#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
GOLGA3	2802	broad.mit.edu	37	12	133393134	133393134	+	Missense_Mutation	SNP	G	G	A	rs561773900		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:133393134G>A	ENST00000450791.2	-	2	581	c.398C>T	c.(397-399)aCg>aTg	p.T133M	GOLGA3_ENST00000456883.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T133M|GOLGA3_ENST00000204726.3_Missense_Mutation_p.T133M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.T133M			Q08378	GOGA3_HUMAN	golgin A3	133	Interaction with GOPC.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACACAGTTGCGTTTCTTGCAT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		22306	0.0		0.001	False		,,,				2504	0.0					ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(397-399)aCg>aTg		golgin A3							98.0	80.0	86.0					12																	133393134		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133393134G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.398C>T	12.37:g.133393134G>A	ENSP00000410378:p.Thr133Met					GOLGA3_ENST00000456883.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T133M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.T133M	p.T133M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	3	956	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	133			Interaction with GOPC.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.398C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459186	0.84317	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.41758	1.46;1.46;1.46;0.99;0.99	5.8	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.979;0.999	T	0.68284	-0.5449	10	0.87932	D	0	.	16.1022	0.81184	0.0:0.0:0.8651:0.1349	.	133;133;133	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	M	133	ENSP00000204726:T133M;ENSP00000410378:T133M;ENSP00000409303:T133M;ENSP00000442143:T133M;ENSP00000442603:T133M	ENSP00000204726:T133M	T	-	2	0	GOLGA3	131903207	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.467000	0.97671	1.417000	0.47077	0.462000	0.41574	ACG		0.542	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		14	46	0	0	0	1	0	14	46				
LHX4	89884	broad.mit.edu	37	1	180199676	180199676	+	Silent	SNP	T	T	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:180199676T>C	ENST00000263726.2	+	1	256	c.12T>C	c.(10-12)agT>agC	p.S4S		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	4					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGATGCAGAGTGCGACTGTCC	0.517																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(10-12)agT>agC		LIM homeobox 4							45.0	43.0	44.0					1																	180199676		2202	4300	6502	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180199676T>C	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.12T>C	1.37:g.180199676T>C							p.S4S	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			1	256	+			4					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.12T>C	CCDS1338.1																																																																																				0.517	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		4	14	0	0	0	1	0	4	14				
DNTTIP1	116092	broad.mit.edu	37	20	44439738	44439738	+	Silent	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:44439738C>T	ENST00000372622.3	+	13	962	c.894C>T	c.(892-894)gtC>gtT	p.V298V	UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000243893.6_5'Flank|UBE2C_ENST00000356455.4_5'Flank|UBE2C_ENST00000335046.3_5'Flank|UBE2C_ENST00000352551.5_5'Flank|UBE2C_ENST00000405520.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	298						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AATCCTTTGTCCTACCCTCCT	0.502																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(892-894)gtC>gtT		deoxynucleotidyltransferase, terminal, interacting protein 1							153.0	138.0	143.0					20																	44439738		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44439738C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.894C>T	20.37:g.44439738C>T							p.V298V	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			13	962	+		Myeloproliferative disorder(115;0.0122)	298					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.894C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.236|9.236	1.036993|1.036993	0.19669|0.19669	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014	.|.	.|.	.|.	5.78|5.78	2.76|2.76	0.32466|0.32466	.|.	.|.	.|.	.|.	.|.	T|T	0.53867|0.53867	0.1823|0.1823	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43147|0.43147	-0.9409|-0.9409	4|4	.|.	.|.	.|.	-18.1479|-18.1479	5.5687|5.5687	0.17184|0.17184	0.0:0.6438:0.175:0.1812|0.0:0.6438:0.175:0.1812	.|.	.|.	.|.	.|.	S|F	249|201	.|.	.|.	P|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43873145|43873145	0.749000|0.749000	0.28305|0.28305	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	-0.182000|-0.182000	0.09726|0.09726	0.339000|0.339000	0.23719|0.23719	0.555000|0.555000	0.69702|0.69702	CCT|TCC		0.502	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		15	77	0	0	0	1	0	15	77				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	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.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	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		3	35	1	0	1	1	1	3	35				
MYO1B	4430	broad.mit.edu	37	2	192278879	192278879	+	Silent	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:192278879G>A	ENST00000392318.3	+	28	3226	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	MYO1B_ENST00000339514.4_Silent_p.V935V|MYO1B_ENST00000304164.4_Silent_p.V993V|MYO1B_ENST00000439065.2_Silent_p.V238V|MYO1B_ENST00000392316.1_Silent_p.V964V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	993	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTGAAGTCGTGAACAAAATTA	0.393																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2977-2979)gtG>gtA		myosin IB							114.0	112.0	113.0					2																	192278879		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192278879G>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2979G>A	2.37:g.192278879G>A						MYO1B_ENST00000392316.1_Silent_p.V964V|MYO1B_ENST00000339514.4_Silent_p.V935V|MYO1B_ENST00000439065.2_Silent_p.V238V|MYO1B_ENST00000304164.4_Silent_p.V993V	p.V993V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		28	3226	+			993					O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.2979G>A	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	9.076	0.998040	0.19043	.	.	ENSG00000128641	ENST00000427152	.	.	.	5.16	2.28	0.28536	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52102	-0.8620	4	.	.	.	.	9.5949	0.39567	0.0747:0.4085:0.5168:0.0	.	.	.	.	K	72	.	.	E	+	1	0	MYO1B	191987124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.830000	0.27462	0.389000	0.25086	0.591000	0.81541	GAA		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		30	85	0	0	0	1	0	30	85				
ASZ1	136991	broad.mit.edu	37	7	117067495	117067495	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:117067495C>T	ENST00000284629.2	-	1	82	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.R7Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGCAGGCCTCGCAGCGCGCT	0.697											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000284629.2																			1	Substitution - Missense(1)	p.R7Q(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(19-21)cGa>cAa		ankyrin repeat, SAM and basic leucine zipper domain containing 1							48.0	46.0	47.0					7																	117067495		2202	4294	6496	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067495C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.20G>A	7.37:g.117067495C>T	ENSP00000284629:p.Arg7Gln		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478		p.R7Q	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	82	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		7						Missense_Mutation	SNP	ENST00000284629.2	37	c.20G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513236	0.85389	.	.	ENSG00000154438	ENST00000284629	T	0.68331	-0.32	5.14	5.14	0.70334	.	0.494840	0.21431	N	0.074644	T	0.72431	0.3459	M	0.69823	2.125	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.50352	0.638;0.638	T	0.66221	-0.5978	10	0.26408	T	0.33	.	16.4814	0.84158	0.0:1.0:0.0:0.0	.	7;7	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	Q	7	ENSP00000284629:R7Q	ENSP00000284629:R7Q	R	-	2	0	ASZ1	116854731	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	3.829000	0.55760	2.829000	0.97493	0.655000	0.94253	CGA		0.697	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		18	49	0	0	0	1	0	18	49				
SLC26A9	115019	broad.mit.edu	37	1	205886433	205886433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:205886433C>T	ENST00000367135.3	-	20	2419	c.2306G>A	c.(2305-2307)cGc>cAc	p.R769H	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769H|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	769					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTAGCTGCGAATGTCCTC	0.577																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2305-2307)cGc>cAc		solute carrier family 26 (anion exchanger), member 9							258.0	234.0	242.0					1																	205886433		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205886433C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2306G>A	1.37:g.205886433C>T	ENSP00000356103:p.Arg769His					SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769H|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769H	p.R769H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		20	2419	-	Breast(84;0.201)		769					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2306G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	c	12.88	2.071145	0.36566	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92699	-3.09;-3.02;-3.09	5.55	4.65	0.58169	.	0.862299	0.10312	N	0.689878	D	0.83599	0.5289	N	0.08118	0	0.09310	N	1	B;B	0.26147	0.006;0.143	B;B	0.08055	0.001;0.003	T	0.73949	-0.3821	10	0.52906	T	0.07	.	12.6795	0.56914	0.0:0.1661:0.8339:0.0	.	769;769	Q7LBE3;B1AVM8	S26A9_HUMAN;.	H	769	ENSP00000341682:R769H;ENSP00000356103:R769H;ENSP00000356102:R769H	ENSP00000341682:R769H	R	-	2	0	SLC26A9	204153056	0.212000	0.23540	0.339000	0.25562	0.801000	0.45260	2.910000	0.48766	1.349000	0.45751	-0.375000	0.07067	CGC		0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		57	153	0	0	0	1	0	57	153				
MAPK12	6300	broad.mit.edu	37	22	50694559	50694559	+	Missense_Mutation	SNP	G	G	A	rs147362308		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr22:50694559G>A	ENST00000215659.8	-	7	889	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.R102W	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGAGCCCGGTACCACCGG	0.602																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(574-576)Cgg>Tgg		mitogen-activated protein kinase 12		G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	60.0	61.0	61.0		574	3.4	1.0	22	dbSNP_134	61	0,8600		0,0,4300	no	missense	MAPK12	NM_002969.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	192/368	50694559	1,12999	2200	4300	6500	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50694559G>A	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.574C>T	22.37:g.50694559G>A	ENSP00000215659:p.Arg192Trp					MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.R102W	p.R192W	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	889	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	192			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.574C>T	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620390	0.66787	2.27E-4	0.0	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.15718	2.4;2.4	4.41	3.36	0.38483	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31461	U	0.007608	T	0.44456	0.1294	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	T	0.49844	-0.8896	10	0.87932	D	0	-32.796	10.9209	0.47163	0.0:0.0:0.4696:0.5303	.	11;102;192;182	B7Z274;B5MDL5;P53778;F6TXG5	.;.;MK12_HUMAN;.	W	182;102;192	ENSP00000379126:R102W;ENSP00000215659:R192W	ENSP00000215659:R192W	R	-	1	2	MAPK12	49036686	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.532000	0.23067	1.034000	0.39945	0.561000	0.74099	CGG		0.602	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		13	43	0	0	0	1	0	13	43				
BCL11A	53335	broad.mit.edu	37	2	60688664	60688664	+	Silent	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:60688664G>A	ENST00000335712.6	-	4	1610	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.S461S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S427S|BCL11A_ENST00000538214.1_Silent_p.S427S|BCL11A_ENST00000537768.1_Silent_p.S130S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	461					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTTGAGCGCGCTGCTGGCGC	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1381-1383)agC>agT		B-cell CLL/lymphoma 11A (zinc finger protein)							33.0	35.0	34.0					2																	60688664		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688664G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1383C>T	2.37:g.60688664G>A						BCL11A_ENST00000538214.1_Silent_p.S427S|BCL11A_ENST00000356842.4_Silent_p.S461S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.S427S|BCL11A_ENST00000537768.1_Silent_p.S130S|BCL11A_ENST00000359629.5_Intron	p.S461S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1610	-			461					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1383C>T	CCDS1862.1																																																																																				0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		6	22	0	0	0	1	0	6	22				
MCM8	84515	broad.mit.edu	37	20	5948132	5948132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:5948132G>A	ENST00000378896.3	+	9	1303	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	MCM8_ENST00000378886.2_Missense_Mutation_p.R309Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R309Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R309Q|Y_RNA_ENST00000384650.1_RNA	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	309					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CGGATTCCACGAACAATAGAA	0.393																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(925-927)cGa>cAa		minichromosome maintenance complex component 8							163.0	147.0	153.0					20																	5948132		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5948132G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.926G>A	20.37:g.5948132G>A	ENSP00000368174:p.Arg309Gln					MCM8_ENST00000378883.1_Missense_Mutation_p.R309Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R309Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R309Q	p.R309Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			9	1303	+			309					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.926G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516530	0.96402	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.87	4.91	0.64330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.84219	2.685	0.58432	D	0.999999	D;D;P;D	0.71674	0.997;0.977;0.758;0.998	P;P;B;P	0.62014	0.897;0.556;0.335;0.852	T	0.01152	-1.1435	10	0.51188	T	0.08	-11.8477	15.4013	0.74843	0.0678:0.0:0.9322:0.0	.	309;309;309;309	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	309	ENSP00000368174:R309Q;ENSP00000368161:R309Q;ENSP00000368164:R309Q;ENSP00000265187:R309Q	ENSP00000265187:R309Q	R	+	2	0	MCM8	5896132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	CGA		0.393	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		21	56	0	0	0	1	0	21	56				
IGSF1	3547	broad.mit.edu	37	X	130412550	130412550	+	Silent	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:130412550C>T	ENST00000361420.3	-	12	2005	c.1926G>A	c.(1924-1926)cgG>cgA	p.R642R	IGSF1_ENST00000370910.1_Silent_p.R633R|IGSF1_ENST00000370904.1_Silent_p.R633R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Silent_p.R647R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	642	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGAAGGCAGCCCGGACCTGCT	0.632																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1897-1899)cgG>cgA		immunoglobulin superfamily, member 1							55.0	56.0	55.0					X																	130412550		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412550C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1926G>A	X.37:g.130412550C>T						IGSF1_ENST00000361420.3_Silent_p.R642R|IGSF1_ENST00000370910.1_Silent_p.R633R|IGSF1_ENST00000370903.3_Silent_p.R647R	p.R633R			Q8N6C5	IGSF1_HUMAN			18	2809	-			642			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1899G>A	CCDS14629.1																																																																																				0.632	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			25	30	0	0	0	1	0	25	30				
NRG3	10718	broad.mit.edu	37	10	83635703	83635703	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:83635703A>T	ENST00000404547.1	+	1	607	c.607A>T	c.(607-609)Agc>Tgc	p.S203C	NRG3_ENST00000372141.2_Missense_Mutation_p.S203C|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	203	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTTCTTCAGTAGCAGCACGCT	0.692																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(607-609)Agc>Tgc		neuregulin 3							50.0	52.0	51.0					10																	83635703		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635703A>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.607A>T	10.37:g.83635703A>T	ENSP00000384796:p.Ser203Cys					NRG3_ENST00000372141.2_Missense_Mutation_p.S203C	p.S203C			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	607	+			203			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.607A>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814130	0.50527	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.35048	1.33;1.34	3.41	1.02	0.19986	.	0.688639	0.12665	U	0.449287	T	0.17238	0.0414	N	0.08118	0	0.80722	D	1	P;P	0.42123	0.771;0.771	B;B	0.39419	0.299;0.299	T	0.03933	-1.0991	10	0.41790	T	0.15	-16.8746	6.1726	0.20427	0.7666:0.0:0.2334:0.0	.	203;203	B9EGV5;P56975-4	.;.	C	203	ENSP00000361214:S203C;ENSP00000384796:S203C	ENSP00000361214:S203C	S	+	1	0	NRG3	83625683	0.991000	0.36638	0.991000	0.47740	0.852000	0.48524	1.531000	0.36018	0.098000	0.17522	0.392000	0.25879	AGC		0.692	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		9	22	0	0	0	1	0	9	22				
CACNA1C	775	broad.mit.edu	37	12	2721074	2721074	+	Silent	SNP	C	C	T	rs377686760		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:2721074C>T	ENST00000347598.4	+	30	3783	c.3783C>T	c.(3781-3783)taC>taT	p.Y1261Y	CACNA1C_ENST00000399637.1_Silent_p.Y1241Y|CACNA1C_ENST00000399649.1_Silent_p.Y1241Y|CACNA1C_ENST00000327702.7_Silent_p.Y1241Y|CACNA1C_ENST00000399629.1_Silent_p.Y1241Y|CACNA1C_ENST00000406454.3_Silent_p.Y1241Y|CACNA1C_ENST00000399641.1_Silent_p.Y1241Y|CACNA1C_ENST00000399655.1_Silent_p.Y1241Y|CACNA1C_ENST00000335762.5_Silent_p.Y1266Y|CACNA1C_ENST00000399601.1_Silent_p.Y1241Y|CACNA1C_ENST00000399638.1_Silent_p.Y1241Y|CACNA1C_ENST00000399617.1_Silent_p.Y1241Y|CACNA1C_ENST00000399597.1_Silent_p.Y1241Y|CACNA1C_ENST00000399621.1_Silent_p.Y1241Y|CACNA1C_ENST00000399606.1_Silent_p.Y1261Y|CACNA1C_ENST00000344100.3_Silent_p.Y1241Y|CACNA1C_ENST00000399634.1_Silent_p.Y1241Y|CACNA1C_ENST00000480911.1_Silent_p.Y1241Y|CACNA1C_ENST00000399591.1_Silent_p.Y1241Y|CACNA1C_ENST00000402845.3_Silent_p.Y1241Y|CACNA1C_ENST00000399603.1_Silent_p.Y1241Y|CACNA1C_ENST00000399595.1_Silent_p.Y1241Y|CACNA1C_ENST00000399644.1_Silent_p.Y1241Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1261					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGCACTACGGCCAGAGCT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		21296	0.0		0.0	False		,,,				2504	0.001					ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3721-3723)taC>taT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,4350		0,0,2175	72.0	72.0	72.0		3723,3783,3723,3723,3723,3783,3723,3723,3723,3723,3723,3723,3723,3723,3723,3723,3723,3714,3723,3723,3723,3723,3783	-2.7	1.0	12		72	2,8576	2.2+/-6.3	0,2,4287	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,2,6462	TT,TC,CC		0.0233,0.0,0.0155	,,,,,,,,,,,,,,,,,,,,,,	1241/2139,1261/2187,1241/2180,1241/2174,1241/2167,1261/2159,1241/2158,1241/2158,1241/2158,1241/2156,1241/2147,1241/2147,1241/2145,1241/2139,1241/2139,1241/2139,1241/2139,1238/2136,1241/2128,1241/2139,1241/2174,1241/2199,1261/2222	2721074	2,12926	2175	4289	6464	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2721074C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3783C>T	12.37:g.2721074C>T						CACNA1C_ENST00000399641.1_Silent_p.Y1241Y|CACNA1C_ENST00000399606.1_Silent_p.Y1261Y|CACNA1C_ENST00000347598.4_Silent_p.Y1261Y|CACNA1C_ENST00000344100.3_Silent_p.Y1241Y|CACNA1C_ENST00000327702.7_Silent_p.Y1241Y|CACNA1C_ENST00000480911.1_Silent_p.Y1241Y|CACNA1C_ENST00000399649.1_Silent_p.Y1241Y|CACNA1C_ENST00000399591.1_Silent_p.Y1241Y|CACNA1C_ENST00000399637.1_Silent_p.Y1241Y|CACNA1C_ENST00000399621.1_Silent_p.Y1241Y|CACNA1C_ENST00000399595.1_Silent_p.Y1241Y|CACNA1C_ENST00000399634.1_Silent_p.Y1241Y|CACNA1C_ENST00000399597.1_Silent_p.Y1241Y|CACNA1C_ENST00000399629.1_Silent_p.Y1241Y|CACNA1C_ENST00000399638.1_Silent_p.Y1241Y|CACNA1C_ENST00000399644.1_Silent_p.Y1241Y|CACNA1C_ENST00000399617.1_Silent_p.Y1241Y|CACNA1C_ENST00000399601.1_Silent_p.Y1241Y|CACNA1C_ENST00000406454.3_Silent_p.Y1241Y|CACNA1C_ENST00000335762.5_Silent_p.Y1266Y|CACNA1C_ENST00000402845.3_Silent_p.Y1241Y|CACNA1C_ENST00000399603.1_Silent_p.Y1241Y	p.Y1241Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	29	3988	+			1261					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.3723C>T	CCDS44788.1																																																																																				0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	15	0	0	0	1	0	9	15				
ERV3-1	2086	broad.mit.edu	37	7	64452634	64452634	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:64452634G>C	ENST00000394323.2	-	2	1271	c.771C>G	c.(769-771)ttC>ttG	p.F257L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	257						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						catgctcatagaatgactcaa	0.473																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(769-771)ttC>ttG									51.0	52.0	52.0					7																	64452634		1897	4121	6018	SO:0001583	missense	2086					virion		g.chr7:64452634G>C	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.771C>G	7.37:g.64452634G>C	ENSP00000391594:p.Phe257Leu						p.F257L	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1271	-			257						Missense_Mutation	SNP	ENST00000394323.2	37	c.771C>G	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.552733	0.27739	.	.	ENSG00000213462	ENST00000394323	T	0.15834	2.39	0.109	0.109	0.14578	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.20926	N	0.999826	B	0.30584	0.286	B	0.22753	0.041	T	0.40850	-0.9541	8	0.15066	T	0.55	.	.	.	.	.	257	Q14264	ENR1_HUMAN	L	257	ENSP00000391594:F257L	ENSP00000391594:F257L	F	-	3	2	ERV3-1	64090069	0.422000	0.25473	0.814000	0.32528	0.817000	0.46193	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TTC		0.473	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		12	40	0	0	0	1	0	12	40				
CHDC2	286464	broad.mit.edu	37	X	36091266	36091266	+	Silent	SNP	A	A	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:36091266A>C	ENST00000313548.4	+	4	387	c.201A>C	c.(199-201)gtA>gtC	p.V67V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	67						integral component of membrane (GO:0016021)											GAGTGGAAGTACTGCCTGAAA	0.348																																						ENST00000378660.1																			0											c.(199-201)gtA>gtC		calponin homology domain containing 2							55.0	52.0	53.0					X																	36091266		2202	4300	6502	SO:0001819	synonymous_variant	286464							g.chrX:36091266A>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.201A>C	X.37:g.36091266A>C						CHDC2_ENST00000313548.4_Silent_p.V67V	p.V67V							4	389	+									Silent	SNP	ENST00000313548.4	37	c.201A>C	CCDS14238.1																																																																																				0.348	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		6	12	0	0	0	1	0	6	12				
CENPF	1063	broad.mit.edu	37	1	214816112	214816112	+	Silent	SNP	A	A	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:214816112A>G	ENST00000366955.3	+	12	4599	c.4431A>G	c.(4429-4431)tcA>tcG	p.S1477S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1573	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATCCCTGTCATCCTCTTGTG	0.473																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4429-4431)tcA>tcG		centromere protein F, 350/400kDa							68.0	66.0	67.0					1																	214816112		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816112A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4431A>G	1.37:g.214816112A>G							p.S1477S	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4599	+			1573			2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4431A>G	CCDS31023.1																																																																																				0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		19	41	0	0	0	1	0	19	41				
BOD1L1	259282	broad.mit.edu	37	4	13600626	13600626	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:13600626G>T	ENST00000040738.5	-	10	8033	c.7898C>A	c.(7897-7899)cCt>cAt	p.P2633H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2633						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCCTTCCTCAGGGAATGATTT	0.373																																						ENST00000040738.5																			0											c.(7897-7899)cCt>cAt		biorientation of chromosomes in cell division 1-like 1							165.0	147.0	153.0					4																	13600626		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600626G>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7898C>A	4.37:g.13600626G>T	ENSP00000040738:p.Pro2633His						p.P2633H	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	8033	-			2633					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7898C>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	8.236	0.805678	0.16467	.	.	ENSG00000038219	ENST00000040738	T	0.05925	3.37	5.12	-4.74	0.03249	.	1.391440	0.04528	N	0.385837	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42396	-0.9454	10	0.35671	T	0.21	.	2.0798	0.03632	0.1287:0.2076:0.4075:0.2562	.	2633	Q8NFC6	BOD1L_HUMAN	H	2633	ENSP00000040738:P2633H	ENSP00000040738:P2633H	P	-	2	0	BOD1L	13209724	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.034000	0.03567	-0.748000	0.04753	-1.426000	0.01102	CCT		0.373	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	75	1	0	0.184627	1	0.186048	5	75				
DZIP1L	199221	broad.mit.edu	37	3	137822609	137822609	+	Missense_Mutation	SNP	G	G	A	rs545888037		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr3:137822609G>A	ENST00000327532.2	-	2	567	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R69W	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	69					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.R69W(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACACCTCCCGGTCCAAGTTG	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19708	0.0		0.0	False		,,,				2504	0.0					ENST00000327532.2																			1	Substitution - Missense(1)	p.R69W(1)	breast(1)	breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(205-207)Cgg>Tgg		DAZ interacting zinc finger protein 1-like							46.0	45.0	46.0					3																	137822609		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137822609G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.205C>T	3.37:g.137822609G>A	ENSP00000332148:p.Arg69Trp					DZIP1L_ENST00000469243.1_Missense_Mutation_p.R69W	p.R69W	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			2	567	-			69					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.205C>T	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.46451	0.87;0.87	4.83	-4.64	0.03349	.	0.815811	0.09952	N	0.734599	T	0.29620	0.0739	N	0.14661	0.345	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53722	0.613;0.733	T	0.24693	-1.0153	10	0.66056	D	0.02	-6.3362	4.6259	0.12477	0.0773:0.4158:0.1373:0.3696	.	69;69	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	W	69	ENSP00000332148:R69W;ENSP00000419486:R69W	ENSP00000332148:R69W	R	-	1	2	DZIP1L	139305299	0.000000	0.05858	0.096000	0.21009	0.039000	0.13416	-0.238000	0.08977	-0.491000	0.06697	-0.169000	0.13324	CGG		0.617	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		9	55	0	0	0	1	0	9	55				
NAP1L3	4675	broad.mit.edu	37	X	92927176	92927176	+	Silent	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:92927176T>A	ENST00000373079.3	-	1	1391	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	NAP1L3_ENST00000475430.2_Silent_p.T369T|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	376					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTATTATATATGTCTTCACCA	0.408																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1126-1128)acA>acT		nucleosome assembly protein 1-like 3							44.0	38.0	40.0					X																	92927176		2203	4300	6503	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927176T>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1128A>T	X.37:g.92927176T>A						NAP1L3_ENST00000475430.1_5'UTR	p.T376T	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1391	-			376					B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.1128A>T	CCDS14465.1																																																																																				0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		8	14	0	0	0	1	0	8	14				
USH2A	7399	broad.mit.edu	37	1	216373122	216373122	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:216373122C>A	ENST00000307340.3	-	17	4044	c.3658G>T	c.(3658-3660)Gta>Tta	p.V1220L	USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|USH2A_ENST00000366943.2_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACGCCTGTACAGAAAAATCG	0.517										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3658-3660)Gta>Tta		Usher syndrome 2A (autosomal recessive, mild)							82.0	84.0	83.0					1																	216373122		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373122C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3658G>T	1.37:g.216373122C>A	ENSP00000305941:p.Val1220Leu	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1220L	p.V1220L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4044	-			1220			Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3658G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530614	0.27387	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.72282	-0.64;-0.64;-0.64	5.87	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001113	T	0.60143	0.2246	L	0.33189	0.99	0.36942	D	0.892448	B;B	0.20261	0.043;0.031	B;B	0.23574	0.023;0.047	T	0.57046	-0.7878	10	0.12766	T	0.61	.	16.8437	0.85975	0.0:0.8718:0.1282:0.0	.	1220;1220	O75445-2;O75445	.;USH2A_HUMAN	L	1220	ENSP00000305941:V1220L;ENSP00000355910:V1220L;ENSP00000355909:V1220L	ENSP00000305941:V1220L	V	-	1	0	USH2A	214439745	1.000000	0.71417	0.897000	0.35233	0.660000	0.38997	1.315000	0.33608	2.941000	0.99782	0.655000	0.94253	GTA		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	62	1	0	0.00010058	1	0.000106258	13	62				
ZNF235	9310	broad.mit.edu	37	19	44792818	44792818	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:44792818T>C	ENST00000291182.4	-	5	872	c.770A>G	c.(769-771)cAc>cGc	p.H257R	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTGTCCTGTGTGAATACTACG	0.388																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(769-771)cAc>cGc		zinc finger protein 235							97.0	96.0	97.0					19																	44792818		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792818T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.770A>G	19.37:g.44792818T>C	ENSP00000291182:p.His257Arg					ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	p.H257R	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	872	-		Prostate(69;0.0352)|all_neural(266;0.116)	257					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.770A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	t	15.10	2.733088	0.48939	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.26518	1.73	4.46	-2.09	0.07232	.	1.412990	0.04858	N	0.443575	T	0.26846	0.0657	M	0.82517	2.595	0.09310	N	0.999997	B;B	0.29341	0.0;0.242	B;B	0.21151	0.001;0.033	T	0.26573	-1.0099	10	0.56958	D	0.05	.	1.0541	0.01586	0.1465:0.1644:0.2529:0.4362	.	253;257	Q14590-2;Q14590	.;ZN235_HUMAN	R	257;257;179	ENSP00000291182:H257R	ENSP00000291182:H257R	H	-	2	0	ZNF235	49484658	0.185000	0.23213	0.000000	0.03702	0.761000	0.43186	1.588000	0.36633	-0.821000	0.04312	0.375000	0.23000	CAC		0.388	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			12	53	0	0	0	1	0	12	53				
VIPAS39	63894	broad.mit.edu	37	14	77914882	77914882	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:77914882A>T	ENST00000553888.1	-	7	969	c.459T>A	c.(457-459)aaT>aaA	p.N153K	VIPAS39_ENST00000448935.2_Missense_Mutation_p.N104K|VIPAS39_ENST00000556412.1_Missense_Mutation_p.N179K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.N140K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.N153K|VIPAS39_ENST00000557658.1_Missense_Mutation_p.N153K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	153					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GGCTCCAGTCATTGCTGTAAT	0.463																																						ENST00000553888.1																			0											c.(457-459)aaT>aaA		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							111.0	103.0	106.0					14																	77914882		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77914882A>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.459T>A	14.37:g.77914882A>T	ENSP00000452181:p.Asn153Lys					VIPAS39_ENST00000557658.1_Missense_Mutation_p.N153K|VIPAS39_ENST00000556412.1_Missense_Mutation_p.N179K|VIPAS39_ENST00000448935.2_Missense_Mutation_p.N104K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.N153K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.N140K	p.N153K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					7	969	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.459T>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339385	0.41398	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.08	2.74	0.32292	.	0.254605	0.46758	D	0.000264	T	0.22627	0.0546	L	0.29908	0.895	0.42002	D	0.990891	B;B	0.20164	0.042;0.032	B;B	0.24394	0.038;0.053	T	0.13602	-1.0503	10	0.05620	T	0.96	-25.7813	4.4558	0.11642	0.701:0.0:0.1555:0.1435	.	104;153	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	K	153;153;140;153;104;179	ENSP00000339122:N153K;ENSP00000452181:N153K;ENSP00000313098:N140K;ENSP00000452191:N153K;ENSP00000404815:N104K;ENSP00000451857:N179K	ENSP00000313098:N140K	N	-	3	2	VIPAR	76984635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.351000	0.34022	0.290000	0.22444	0.460000	0.39030	AAT		0.463	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		41	34	0	0	0	1	0	41	34				
TPTE	7179	broad.mit.edu	37	21	10970031	10970031	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr21:10970031C>T	ENST00000361285.4	-	6	426	c.97G>A	c.(97-99)Gag>Aag	p.E33K	TPTE_ENST00000342420.5_Missense_Mutation_p.E33K|TPTE_ENST00000298232.7_Missense_Mutation_p.E33K|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	33					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGCCTCCTCGGTTGCTCCT	0.393																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(97-99)Gag>Aag		transmembrane phosphatase with tensin homology							248.0	230.0	236.0					21																	10970031		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970031C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.97G>A	21.37:g.10970031C>T	ENSP00000355208:p.Glu33Lys					TPTE_ENST00000361285.4_Missense_Mutation_p.E33K|TPTE_ENST00000342420.5_Missense_Mutation_p.E33K|TPTE_ENST00000415664.2_5'UTR	p.E33K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	464	-			33					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.97G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	1.681	-0.506473	0.04231	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95137	-3.4;-3.62;-3.49	0.725	-0.767	0.11016	.	.	.	.	.	T	0.79913	0.4528	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.17667	0.001;0.023;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.69873	-0.5027	9	0.06236	T	0.91	.	3.4121	0.07363	0.5411:0.4589:0.0:0.0	.	33;33;33	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	33	ENSP00000298232:E33K;ENSP00000355208:E33K;ENSP00000344441:E33K	ENSP00000298232:E33K	E	-	1	0	TPTE	9991902	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.951000	0.00678	-0.260000	0.09418	0.194000	0.17425	GAG		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	115	0	0	0	1	0	6	115				
ZNF189	7743	broad.mit.edu	37	9	104171678	104171678	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr9:104171678A>T	ENST00000339664.2	+	3	1757	c.1628A>T	c.(1627-1629)gAt>gTt	p.D543V	ZNF189_ENST00000259395.4_Missense_Mutation_p.D501V|ZNF189_ENST00000374861.3_Missense_Mutation_p.D529V	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	543					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CATAAATGTGATGAATGTGGA	0.423																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(1585-1587)gAt>gTt		zinc finger protein 189							88.0	87.0	87.0					9																	104171678		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171678A>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1628A>T	9.37:g.104171678A>T	ENSP00000342019:p.Asp543Val					ZNF189_ENST00000339664.2_Missense_Mutation_p.D543V|ZNF189_ENST00000259395.4_Missense_Mutation_p.D501V	p.D529V	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1870	+		Acute lymphoblastic leukemia(62;0.0559)	543					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1586A>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881478	0.17467	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.07567	3.18;3.18;3.18	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152049	0.30820	N	0.008809	T	0.10078	0.0247	L	0.59912	1.85	0.50632	D	0.99988	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.23852	0.01;0.049;0.019	T	0.06162	-1.0842	10	0.52906	T	0.07	.	7.4568	0.27272	0.8077:0.0:0.0:0.1923	.	528;529;543	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	V	529;543;501	ENSP00000363995:D529V;ENSP00000342019:D543V;ENSP00000259395:D501V	ENSP00000259395:D501V	D	+	2	0	ZNF189	103211499	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.171000	0.09883	2.180000	0.69256	0.528000	0.53228	GAT		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		13	55	0	0	0	1	0	13	55				
OR2G6	391211	broad.mit.edu	37	1	248685295	248685295	+	Silent	SNP	C	C	T	rs376681900		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:248685295C>T	ENST00000343414.4	+	1	380	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCTTGGCCGTCATGGCTT	0.557													.|||	1	0.000199681	0.0	0.0	5008	,	,		19545	0.0		0.0	False		,,,				2504	0.001					ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(346-348)gcC>gcT		olfactory receptor, family 2, subfamily G, member 6							88.0	86.0	87.0					1																	248685295		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685295C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.348C>T	1.37:g.248685295C>T							p.A116A	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	380	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	116					B2RP33	Silent	SNP	ENST00000343414.4	37	c.348C>T	CCDS31119.1																																																																																				0.557	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	75	0	0	0	1	0	4	75				
GDF6	392255	broad.mit.edu	37	8	97157145	97157145	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:97157145G>T	ENST00000287020.5	-	2	1113	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	338					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGCGACTGGCGAAGGCCGTgc	0.746																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1012-1014)ttC>ttA		growth differentiation factor 6							23.0	19.0	20.0					8																	97157145		2202	4298	6500	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157145G>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1014C>A	8.37:g.97157145G>T	ENSP00000287020:p.Phe338Leu						p.F338L	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1113	-	Breast(36;2.67e-05)		338					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1014C>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	1.018	-0.685701	0.03328	.	.	ENSG00000156466	ENST00000287020	T	0.77750	-1.12	4.57	1.64	0.23874	Transforming growth factor-beta, C-terminal (1);	0.538592	0.18588	N	0.136804	T	0.47358	0.1441	N	0.03608	-0.345	0.29347	N	0.865596	B	0.02656	0.0	B	0.01281	0.0	T	0.35325	-0.9793	10	0.08837	T	0.75	.	5.6995	0.17875	0.1981:0.1596:0.6423:0.0	.	338	Q6KF10	GDF6_HUMAN	L	338	ENSP00000287020:F338L	ENSP00000287020:F338L	F	-	3	2	GDF6	97226321	0.094000	0.21725	0.981000	0.43875	0.757000	0.42996	0.151000	0.16283	0.125000	0.18397	-0.262000	0.10625	TTC		0.746	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		9	17	1	0	2.17888e-05	1	2.33961e-05	9	17				
ICE1	23379	broad.mit.edu	37	5	5464410	5464410	+	Missense_Mutation	SNP	T	T	C	rs370382183		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr5:5464410T>C	ENST00000296564.7	+	13	5185	c.4963T>C	c.(4963-4965)Tcg>Ccg	p.S1655P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1655	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCCACTGATATCGAGTTCTAG	0.567																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4963-4965)Tcg>Ccg		KIAA0947		T	PRO/SER	0,4108		0,0,2054	184.0	193.0	190.0		4963	2.5	0.0	5		190	1,8401		0,1,4200	no	missense	KIAA0947	NM_015325.1	74	0,1,6254	CC,CT,TT		0.0119,0.0,0.0080	benign	1655/2267	5464410	1,12509	2054	4201	6255	SO:0001583	missense	23379							g.chr5:5464410T>C																												ENST00000296564.7:c.4963T>C	5.37:g.5464410T>C	ENSP00000296564:p.Ser1655Pro						p.S1655P	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	5185	+			1655			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4963T>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898449	0.33535	0.0	1.19E-4	ENSG00000164151	ENST00000296564	T	0.13307	2.6	4.96	2.53	0.30540	.	.	.	.	.	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.32800	0.385	B	0.30251	0.113	T	0.38457	-0.9660	9	0.27785	T	0.31	-1.3045	5.579	0.17238	0.0:0.0957:0.174:0.7303	.	1655	Q9Y2F5	K0947_HUMAN	P	1655	ENSP00000296564:S1655P	ENSP00000296564:S1655P	S	+	1	0	KIAA0947	5517410	0.108000	0.22018	0.002000	0.10522	0.555000	0.35460	1.002000	0.29796	0.237000	0.21200	0.377000	0.23210	TCG		0.567	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			36	140	0	0	0	1	0	36	140				
SDK1	221935	broad.mit.edu	37	7	4091409	4091409	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:4091409C>T	ENST00000404826.2	+	19	2997	c.2858C>T	c.(2857-2859)aCc>aTc	p.T953I	SDK1_ENST00000389531.3_Missense_Mutation_p.T953I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	953	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCTTCACCACCCCTGGGGAC	0.527																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2857-2859)aCc>aTc		sidekick cell adhesion molecule 1							149.0	135.0	140.0					7																	4091409		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091409C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2858C>T	7.37:g.4091409C>T	ENSP00000385899:p.Thr953Ile					SDK1_ENST00000389531.3_Missense_Mutation_p.T953I	p.T953I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	2997	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	953			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2858C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609467	0.66558	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58506	0.33;0.33	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71846	0.3388	L	0.49455	1.56	0.80722	D	1	D;D	0.63046	0.99;0.992	D;P	0.65443	0.935;0.893	T	0.72141	-0.4380	10	0.59425	D	0.04	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	953;953	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	I	953	ENSP00000385899:T953I;ENSP00000374182:T953I	ENSP00000374182:T953I	T	+	2	0	SDK1	4057935	1.000000	0.71417	0.957000	0.39632	0.807000	0.45602	7.716000	0.84723	2.648000	0.89879	0.650000	0.86243	ACC		0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		26	80	0	0	0	1	0	26	80				
FREM1	158326	broad.mit.edu	37	9	14819319	14819319	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr9:14819319G>C	ENST00000380880.3	-	14	3242	c.2459C>G	c.(2458-2460)cCt>cGt	p.P820R	FREM1_ENST00000380881.4_Missense_Mutation_p.P821R|FREM1_ENST00000422223.2_Missense_Mutation_p.P820R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	820					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCGTGCAGAGGCAATTCCCG	0.468																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2461-2463)cCt>cGt		FRAS1 related extracellular matrix 1							112.0	108.0	109.0					9																	14819319		1934	4134	6068	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14819319G>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2459C>G	9.37:g.14819319G>C	ENSP00000370262:p.Pro820Arg					FREM1_ENST00000422223.2_Missense_Mutation_p.P820R|FREM1_ENST00000380880.3_Missense_Mutation_p.P820R	p.P821R			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	15	3277	-			820					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2462C>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536592	0.45176	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.39787	1.06;1.06;1.06	5.86	4.97	0.65823	.	0.092677	0.85682	D	0.000000	T	0.70254	0.3203	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.78550	-0.2161	10	0.72032	D	0.01	-7.7754	15.0212	0.71632	0.0679:0.0:0.9321:0.0	.	820	Q5H8C1	FREM1_HUMAN	R	821;820;820	ENSP00000370263:P821R;ENSP00000412940:P820R;ENSP00000370262:P820R	ENSP00000370257:P823R	P	-	2	0	FREM1	14809319	1.000000	0.71417	0.117000	0.21633	0.013000	0.08279	6.780000	0.75063	1.492000	0.48499	0.563000	0.77884	CCT		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		9	16	0	0	0	1	0	9	16				
SNX25	83891	broad.mit.edu	37	4	186272622	186272622	+	Silent	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:186272622G>C	ENST00000504273.1	+	14	2127	c.1833G>C	c.(1831-1833)ctG>ctC	p.L611L	SNX25_ENST00000264694.8_Silent_p.L611L|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	611	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGAAAGACTGTGTCAGAGTG	0.438																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1831-1833)ctG>ctC		sorting nexin 25							192.0	182.0	185.0					4																	186272622		2203	4300	6503	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186272622G>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1833G>C	4.37:g.186272622G>C						SNX25_ENST00000264694.8_Silent_p.L611L|SNX25_ENST00000512853.1_Intron	p.L611L			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	14	2127	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	611			PX.		Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.1833G>C	CCDS34116.1																																																																																				0.438	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		13	45	0	0	0	1	0	13	45				
GRM8	2918	broad.mit.edu	37	7	126883110	126883110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:126883110C>T	ENST00000339582.2	-	2	957	c.149G>A	c.(148-150)gGt>gAt	p.G50D	GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	50					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGGAAGAGACCCCCCAAAAT	0.517										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(148-150)gGt>gAt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						95.0	91.0	92.0					7																	126883110		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883110C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.149G>A	7.37:g.126883110C>T	ENSP00000344173:p.Gly50Asp	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D	p.G50D			O00222	GRM8_HUMAN			2	957	-		Prostate(267;0.186)	50					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.149G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123734	0.77436	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.848;0.999	D	0.92534	0.6036	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	50;50	O00222-2;O00222	.;GRM8_HUMAN	D	50	ENSP00000344173:G50D;ENSP00000409790:G50D;ENSP00000351142:G50D;ENSP00000385731:G50D;ENSP00000415522:G50D	ENSP00000344173:G50D	G	-	2	0	GRM8	126670346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT		0.517	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			9	70	0	0	0	1	0	9	70				
PPP1R8	5511	broad.mit.edu	37	1	28176681	28176681	+	Silent	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:28176681C>T	ENST00000311772.5	+	7	838	c.780C>T	c.(778-780)agC>agT	p.S260S	PPP1R8_ENST00000236412.7_Silent_p.S36S|PPP1R8_ENST00000486634.1_3'UTR|PPP1R8_ENST00000373931.4_Silent_p.S118S	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	260					cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCTTCAGCGGAGGACTCT	0.622																																						ENST00000373931.4																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(352-354)agC>agT		protein phosphatase 1, regulatory subunit 8							120.0	132.0	128.0					1																	28176681		2203	4300	6503	SO:0001819	synonymous_variant	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28176681C>T	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.780C>T	1.37:g.28176681C>T						PPP1R8_ENST00000311772.5_Silent_p.S260S|PPP1R8_ENST00000236412.7_Silent_p.S36S|PPP1R8_ENST00000486634.1_3'UTR	p.S118S	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	7	1149	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	260			Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	37	c.354C>T	CCDS311.1																																																																																				0.622	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		47	195	0	0	0	1	0	47	195				
GLCCI1	113263	broad.mit.edu	37	7	8110672	8110672	+	Missense_Mutation	SNP	A	A	G	rs148958007		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:8110672A>G	ENST00000223145.5	+	6	1645	c.1088A>G	c.(1087-1089)cAt>cGt	p.H363R		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	363						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCAGCAGTCATTCACCCTGT	0.517																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1087-1089)cAt>cGt		glucocorticoid induced transcript 1		A	ARG/HIS	0,4406		0,0,2203	155.0	137.0	143.0		1088	5.0	0.9	7	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	363/548	8110672	1,13005	2203	4300	6503	SO:0001583	missense	113263							g.chr7:8110672A>G	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1088A>G	7.37:g.8110672A>G	ENSP00000223145:p.His363Arg						p.H363R	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	6	1645	+		Ovarian(82;0.0608)	363					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1088A>G	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858152	0.32791	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.02	5.02	0.67125	.	0.180265	0.48286	D	0.000181	T	0.43255	0.1239	N	0.03324	-0.35	0.42033	D	0.991035	D	0.62365	0.991	P	0.59115	0.852	T	0.42481	-0.9449	9	0.13853	T	0.58	-10.5881	15.2107	0.73222	1.0:0.0:0.0:0.0	.	363	Q86VQ1	GLCI1_HUMAN	R	363	.	ENSP00000223145:H363R	H	+	2	0	GLCCI1	8077197	1.000000	0.71417	0.889000	0.34880	0.984000	0.73092	5.635000	0.67841	2.232000	0.73038	0.528000	0.53228	CAT		0.517	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		23	92	0	0	0	1	0	23	92				
ABCC9	10060	broad.mit.edu	37	12	22012543	22012543	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:22012543G>C	ENST00000261201.4	-	20	2481	c.2482C>G	c.(2482-2484)Caa>Gaa	p.Q828E	ABCC9_ENST00000261200.4_Missense_Mutation_p.Q828E|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.Q792E	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	828	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.Q828*(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGGTGTTTTGATACAGCGCT	0.408																																						ENST00000261200.4																			2	Substitution - Nonsense(2)	p.Q828*(2)	lung(2)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2482-2484)Caa>Gaa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						186.0	182.0	183.0					12																	22012543		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22012543G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2482C>G	12.37:g.22012543G>C	ENSP00000261201:p.Gln828Glu					ABCC9_ENST00000345162.2_Missense_Mutation_p.Q792E|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q828E|RP11-729I10.2_ENST00000539874.1_RNA	p.Q828E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			20	2481	-			828			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2482C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883076	0.51908	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	4.71	4.71	0.59529	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	L	0.35249	1.045	0.80722	D	1	P;P	0.52170	0.772;0.951	P;P	0.47251	0.542;0.514	D	0.85220	0.1026	10	0.56958	D	0.05	-11.649	17.8397	0.88712	0.0:0.0:1.0:0.0	.	828;828	O60706;O60706-2	ABCC9_HUMAN;.	E	828;455;828;792	ENSP00000261200:Q828E;ENSP00000440521:Q455E;ENSP00000261201:Q828E;ENSP00000261202:Q792E	ENSP00000261200:Q828E	Q	-	1	0	ABCC9	21903810	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.640000	0.98453	2.449000	0.82847	0.467000	0.42956	CAA		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		30	90	0	0	0	1	0	30	90				
DNAH7	56171	broad.mit.edu	37	2	196750966	196750966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:196750966C>T	ENST00000312428.6	-	34	5537	c.5437G>A	c.(5437-5439)Gtc>Atc	p.V1813I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1813					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGGACCGGACCAAGTTTGTA	0.333																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5437-5439)Gtc>Atc		dynein, axonemal, heavy chain 7							96.0	92.0	93.0					2																	196750966		1818	4079	5897	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196750966C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5437G>A	2.37:g.196750966C>T	ENSP00000311273:p.Val1813Ile						p.V1813I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			34	5537	-			1813					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5437G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027831	0.35797	.	.	ENSG00000118997	ENST00000312428	D	0.90788	-2.73	4.81	4.81	0.61882	.	0.073022	0.52532	D	0.000061	D	0.86401	0.5924	L	0.48362	1.52	0.80722	D	1	B	0.14805	0.011	B	0.20384	0.029	T	0.81239	-0.1023	10	0.21540	T	0.41	.	12.7351	0.57218	0.0:0.9174:0.0:0.0826	.	1813	Q8WXX0	DYH7_HUMAN	I	1813	ENSP00000311273:V1813I	ENSP00000311273:V1813I	V	-	1	0	DNAH7	196459211	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	3.355000	0.52262	2.377000	0.81083	0.557000	0.71058	GTC		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	38	0	0	0	1	0	5	38				
TRAV5	28688	broad.mit.edu	37	14	22217750	22217750	+	RNA	SNP	G	G	A	rs372151551	byFrequency	TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:22217750G>A	ENST00000390427.3	+	0	113									T cell receptor alpha variable 5																		CTGAGTGTCCGAGAGGGAGAC	0.483																																						ENST00000390427.3																			0																				51.0	50.0	51.0					14																	22217750		1942	4149	6091			28688							g.chr14:22217750G>A	AE000659		14q11.2	2012-02-07			ENSG00000211779	ENSG00000211779		"""T cell receptors / TRA locus"""	12143	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168983		14.37:g.22217750G>A														0	113	+									RNA	SNP	ENST00000390427.3	37																																																																																						0.483	TRAV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401881.1	NG_001332		9	23	0	0	0	1	0	9	23				
ZNF648	127665	broad.mit.edu	37	1	182026642	182026642	+	Silent	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:182026642G>T	ENST00000339948.3	-	2	711	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCCATTGCTGGGGAAGCTGG	0.567																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(502-504)ccC>ccA		zinc finger protein 648							74.0	75.0	75.0					1																	182026642		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026642G>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.504C>A	1.37:g.182026642G>T							p.P168P	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	711	-			168					B2RP16	Silent	SNP	ENST00000339948.3	37	c.504C>A	CCDS30952.1																																																																																				0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		7	29	1	0	0.000157383	1	0.000163629	7	29				
ZNFX1	57169	broad.mit.edu	37	20	47886636	47886636	+	Silent	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:47886636T>A	ENST00000396105.1	-	3	1959	c.1713A>T	c.(1711-1713)ctA>ctT	p.L571L	ZNFX1_ENST00000371754.4_Silent_p.L571L|ZNFX1_ENST00000371752.1_Silent_p.L571L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	571							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGACATTTCTTAGAAATTCCC	0.478																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1711-1713)ctA>ctT		zinc finger, NFX1-type containing 1							88.0	95.0	93.0					20																	47886636		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47886636T>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1713A>T	20.37:g.47886636T>A						ZNFX1_ENST00000371754.4_Silent_p.L571L|ZNFX1_ENST00000371752.1_Silent_p.L571L	p.L571L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1959	-			571					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.1713A>T	CCDS13417.1																																																																																				0.478	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		26	94	0	0	0	1	0	26	94				
SALL3	27164	broad.mit.edu	37	18	76756969	76756969	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr18:76756969C>G	ENST00000537592.2	+	3	3550	c.3550C>G	c.(3550-3552)Ctc>Gtc	p.L1184V	SALL3_ENST00000575389.2_Missense_Mutation_p.L1112V|SALL3_ENST00000536229.3_Missense_Mutation_p.L979V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1184					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCATGGCTCTCCTAGGGGG	0.602																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2935-2937)Ctc>Gtc		spalt-like transcription factor 3							36.0	39.0	38.0					18																	76756969		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756969C>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3550C>G	18.37:g.76756969C>G	ENSP00000441823:p.Leu1184Val					SALL3_ENST00000575389.2_Missense_Mutation_p.L1112V|SALL3_ENST00000537592.2_Missense_Mutation_p.L1184V	p.L979V			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3644	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1184					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2935C>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	8.939	0.965289	0.18583	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	5.09	4.01	0.46588	.	0.000000	0.45606	D	0.000356	T	0.28566	0.0707	M	0.79693	2.465	0.49389	D	0.999784	D;D	0.76494	0.996;0.999	P;D	0.78314	0.854;0.991	T	0.01452	-1.1351	10	0.49607	T	0.09	-35.4023	5.9087	0.19016	0.0:0.709:0.0:0.291	.	844;1184	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	1184;1112;844	ENSP00000441823:L1184V	ENSP00000299466:L1184V	L	+	1	0	SALL3	74857957	0.155000	0.22806	0.699000	0.30290	0.811000	0.45836	0.664000	0.25068	2.351000	0.79841	0.561000	0.74099	CTC		0.602	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		13	26	0	0	0	1	0	13	26				
CCDC88C	440193	broad.mit.edu	37	14	91763765	91763765	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:91763765T>C	ENST00000389857.6	-	22	3936	c.3850A>G	c.(3850-3852)Acc>Gcc	p.T1284A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1284					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCAGTGAGGTTTTCAGCTCC	0.597																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3850-3852)Acc>Gcc		coiled-coil domain containing 88C							54.0	58.0	57.0					14																	91763765		2181	4260	6441	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91763765T>C		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3850A>G	14.37:g.91763765T>C	ENSP00000374507:p.Thr1284Ala						p.T1284A	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			22	3936	-		all_cancers(154;0.0468)	1284					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3850A>G	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538623	0.45176	.	.	ENSG00000015133	ENST00000389857	T	0.13778	2.56	5.34	2.98	0.34508	.	0.000000	0.49916	U	0.000128	T	0.14570	0.0352	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.27608	0.081	T	0.03993	-1.0986	10	0.72032	D	0.01	-22.023	9.4867	0.38933	0.0:0.1437:0.0:0.8563	.	1284	Q9P219	DAPLE_HUMAN	A	1284	ENSP00000374507:T1284A	ENSP00000374507:T1284A	T	-	1	0	CCDC88C	90833518	1.000000	0.71417	0.252000	0.24328	0.547000	0.35210	5.147000	0.64851	0.358000	0.24211	0.496000	0.49642	ACC		0.597	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		17	8	0	0	0	1	0	17	8				
SPTBN2	6712	broad.mit.edu	37	11	66476402	66476402	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:66476402C>T	ENST00000533211.1	-	11	1493	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E388K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E388K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	388					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCCGGCCCTCGCGGGGCGTG	0.617																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1162-1164)Gag>Aag		spectrin, beta, non-erythrocytic 2							66.0	65.0	66.0					11																	66476402		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66476402C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1162G>A	11.37:g.66476402C>T	ENSP00000432568:p.Glu388Lys					SPTBN2_ENST00000309996.2_Missense_Mutation_p.E388K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E388K	p.E388K			O15020	SPTN2_HUMAN			11	1493	-			388					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.1162G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761697	0.96906	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.50813	0.73;0.73;0.73	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82281	-0.0535	10	0.48119	T	0.1	.	17.5095	0.87756	0.0:1.0:0.0:0.0	.	388	O15020	SPTN2_HUMAN	K	388	ENSP00000432568:E388K;ENSP00000311489:E388K;ENSP00000433593:E388K	ENSP00000311489:E388K	E	-	1	0	SPTBN2	66232978	1.000000	0.71417	0.981000	0.43875	0.888000	0.51559	7.543000	0.82106	2.673000	0.90976	0.591000	0.81541	GAG		0.617	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		18	49	0	0	0	1	0	18	49				
CXorf22	170063	broad.mit.edu	37	X	35966480	35966480	+	Silent	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:35966480A>T	ENST00000297866.5	+	4	633	c.567A>T	c.(565-567)ccA>ccT	p.P189P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	189										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATTTTTCCAACTAGTGGTA	0.393																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(565-567)ccA>ccT		chromosome X open reading frame 22							200.0	159.0	173.0					X																	35966480		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35966480A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.567A>T	X.37:g.35966480A>T							p.P189P	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			4	633	+			189					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.567A>T	CCDS14237.2																																																																																				0.393	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		30	25	0	0	0	1	0	30	25				
PNLIP	5406	broad.mit.edu	37	10	118313298	118313298	+	Silent	SNP	C	C	T	rs150321250		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:118313298C>T	ENST00000369221.2	+	6	547	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	173					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGGGTGCCCACGCTGCTGGGG	0.522																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(517-519)caC>caT		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)	C		0,4406		0,0,2203	79.0	67.0	71.0		519	-6.9	0.5	10	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNLIP	NM_000936.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		173/466	118313298	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118313298C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.519C>T	10.37:g.118313298C>T							p.H173H	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	6	547	+			173					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.519C>T	CCDS7594.1																																																																																				0.522	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		11	30	0	0	0	1	0	11	30				
CDH17	1015	broad.mit.edu	37	8	95186135	95186135	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:95186135T>G	ENST00000027335.3	-	7	797	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	CDH17_ENST00000450165.2_Missense_Mutation_p.S225R|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGGTATCACTGAAGGAATTC	0.438																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(673-675)Agt>Cgt		cadherin 17, LI cadherin (liver-intestine)							123.0	116.0	119.0					8																	95186135		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95186135T>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.673A>C	8.37:g.95186135T>G	ENSP00000027335:p.Ser225Arg					CDH17_ENST00000450165.2_Missense_Mutation_p.S225R|CDH17_ENST00000441892.2_Intron	p.S225R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		7	797	-	Breast(36;4.65e-06)		225			Cadherin 2.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.673A>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125494	0.77436	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.54675	0.56;0.56	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.086935	0.50627	D	0.000103	T	0.70988	0.3287	M	0.86268	2.805	0.48288	D	0.999628	D	0.55605	0.972	P	0.60345	0.873	T	0.76135	-0.3070	10	0.87932	D	0	-20.327	11.0763	0.48034	0.1388:0.0:0.0:0.8612	.	225	Q12864	CAD17_HUMAN	R	225	ENSP00000027335:S225R;ENSP00000401468:S225R	ENSP00000027335:S225R	S	-	1	0	CDH17	95255311	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.766000	0.55280	2.285000	0.76669	0.533000	0.62120	AGT		0.438	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		19	84	0	0	0	1	0	19	84				
IGHV7-81	28378	broad.mit.edu	37	14	107283086	107283086	+	RNA	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:107283086G>T	ENST00000390639.2	-	0	110									immunoglobulin heavy variable 7-81 (non-functional)																		GCTGCACCTGGGAGTAGGTAC	0.582																																						ENST00000390639.2																			0																				114.0	125.0	122.0					14																	107283086		1974	4153	6127			28378							g.chr14:107283086G>T	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283086G>T														0	110	-									RNA	SNP	ENST00000390639.2	37																																																																																						0.582	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		21	105	1	0	6.44725e-10	1	7.28095e-10	21	105				
SLC28A1	9154	broad.mit.edu	37	15	85486699	85486699	+	Silent	SNP	G	G	A	rs147715805		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:85486699G>A	ENST00000286749.3	+	15	1695	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	SLC28A1_ENST00000394573.1_Silent_p.T535T|SLC28A1_ENST00000537624.1_Silent_p.T535T|SLC28A1_ENST00000538177.1_Silent_p.T369T|SLC28A1_ENST00000537216.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	535					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCCTCACGACGTTTGCCCTCT	0.552																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1603-1605)acG>acA		solute carrier family 28 (concentrative nucleoside transporter), member 1		G		0,4406		0,0,2203	124.0	98.0	107.0		1605	-8.4	0.0	15	dbSNP_134	107	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SLC28A1	NM_004213.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		535/650	85486699	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85486699G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1605G>A	15.37:g.85486699G>A						SLC28A1_ENST00000537624.1_Silent_p.T535T|SLC28A1_ENST00000538177.1_Silent_p.T369T|SLC28A1_ENST00000286749.3_Silent_p.T535T|SLC28A1_ENST00000537216.1_Intron	p.T535T	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		16	1807	+			535					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1605G>A	CCDS10334.1																																																																																				0.552	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			13	28	0	0	0	1	0	13	28				
PIWIL4	143689	broad.mit.edu	37	11	94331061	94331061	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:94331061A>C	ENST00000299001.6	+	11	1571	c.1360A>C	c.(1360-1362)Ata>Cta	p.I454L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	454					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGAAAAAATATTAATGCA	0.388																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1360-1362)Ata>Cta		piwi-like RNA-mediated gene silencing 4							82.0	83.0	83.0					11																	94331061		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94331061A>C	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1360A>C	11.37:g.94331061A>C	ENSP00000299001:p.Ile454Leu					RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.I454L	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			11	1571	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	454					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1360A>C	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825567	0.16749	.	.	ENSG00000134627	ENST00000299001	T	0.03386	3.95	4.83	3.69	0.42338	Ribonuclease H-like (1);	0.181255	0.35772	N	0.002999	T	0.06142	0.0159	M	0.75447	2.3	0.80722	D	1	B	0.23735	0.09	B	0.23574	0.047	T	0.18272	-1.0342	10	0.19147	T	0.46	-11.0939	10.8324	0.46667	0.841:0.159:0.0:0.0	.	454	Q7Z3Z4	PIWL4_HUMAN	L	454	ENSP00000299001:I454L	ENSP00000299001:I454L	I	+	1	0	PIWIL4	93970709	0.994000	0.37717	0.609000	0.28983	0.069000	0.16628	0.946000	0.29069	0.862000	0.35528	-0.438000	0.05819	ATA		0.388	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		11	24	0	0	0	1	0	11	24				
FAT1	2195	broad.mit.edu	37	4	187540460	187540460	+	Missense_Mutation	SNP	T	T	C	rs372188939		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:187540460T>C	ENST00000441802.2	-	10	7489	c.7280A>G	c.(7279-7281)tAt>tGt	p.Y2427C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2427	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGAATGGAATACTGCAACTT	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7279-7281)tAt>tGt		FAT atypical cadherin 1		T	CYS/TYR	1,4051		0,1,2025	87.0	91.0	89.0		7280	5.2	1.0	4		89	0,8360		0,0,4180	no	missense	FAT1	NM_005245.3	194	0,1,6205	CC,CT,TT		0.0,0.0247,0.0081	probably-damaging	2427/4589	187540460	1,12411	2026	4180	6206	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540460T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7280A>G	4.37:g.187540460T>C	ENSP00000406229:p.Tyr2427Cys	HNSCC(5;0.00058)					p.Y2427C	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7489	-			2427			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7280A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638476	0.47153	2.47E-4	0.0	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.63255	-0.03	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.056061	0.64402	D	0.000001	D	0.88511	0.6456	H	0.99634	4.67	0.58432	D	0.999999	D	0.76494	0.999	D	0.74348	0.983	D	0.93572	0.6905	10	0.87932	D	0	.	15.5954	0.76574	0.0:0.0:0.0:1.0	.	2427	Q14517	FAT1_HUMAN	C	2427;2429	ENSP00000406229:Y2427C	ENSP00000260147:Y2429C	Y	-	2	0	FAT1	187777454	1.000000	0.71417	0.957000	0.39632	0.672000	0.39443	6.208000	0.72165	2.330000	0.79161	0.528000	0.53228	TAT		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	34	0	0	0	1	0	14	34				
ARF6	382	broad.mit.edu	37	14	50360513	50360513	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:50360513G>T	ENST00000298316.5	+	2	606	c.59G>T	c.(58-60)gGc>gTc	p.G20V		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	20					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CTCATGTTGGGCCTGGACGCG	0.597																																						ENST00000298316.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(58-60)gGc>gTc		ADP-ribosylation factor 6							73.0	74.0	74.0					14																	50360513		2203	4300	6503	SO:0001583	missense	382				cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding	g.chr14:50360513G>T		CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.59G>T	14.37:g.50360513G>T	ENSP00000298316:p.Gly20Val						p.G20V	NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN			2	606	+	all_epithelial(31;0.000822)|Breast(41;0.0117)		20					P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	c.59G>T	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139455	0.77775	.	.	ENSG00000165527	ENST00000298316	D	0.99292	-5.7	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99752	4.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96589	0.9436	10	0.87932	D	0	-8.245	17.4715	0.87647	0.0:0.0:1.0:0.0	.	20	P62330	ARF6_HUMAN	V	20	ENSP00000298316:G20V	ENSP00000298316:G20V	G	+	2	0	ARF6	49430263	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.127000	0.65507	0.491000	0.48974	GGC		0.597	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		21	83	1	0	1.10513e-12	1	1.29261e-12	21	83				
GALNT1	2589	broad.mit.edu	37	18	33243770	33243770	+	Intron	SNP	A	A	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr18:33243770A>G	ENST00000269195.5	+	2	417				GALNT1_ENST00000537549.1_Intron|GALNT1_ENST00000591081.1_Silent_p.*106*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAGAAGGGTAAGTACTTACTG	0.323																																						ENST00000591081.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(316-318)taA>taG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							126.0	120.0	122.0					18																	33243770		2203	4300	6503	SO:0001627	intron_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243770A>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.314+4A>G	18.37:g.33243770A>G						GALNT1_ENST00000537549.1_Intron|GALNT1_ENST00000269195.5_Intron	p.*106*			Q10472	GALT1_HUMAN			2	409	+			0					Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.318A>G	CCDS11915.1																																																																																				0.323	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		31	42	0	0	0	1	0	31	42				
WDR60	55112	broad.mit.edu	37	7	158704239	158704239	+	Splice_Site	SNP	A	A	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:158704239A>G	ENST00000407559.3	+	12	1618		c.e12-1			NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60						cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTATTTCAAAGGATGCGAAG	0.333																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.e12-1		WD repeat domain 60							81.0	74.0	76.0					7																	158704239		1824	4085	5909	SO:0001630	splice_region_variant	55112							g.chr7:158704239A>G		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1461-1A>G	7.37:g.158704239A>G								NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1618	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)						Q9NW58	Splice_Site	SNP	ENST00000407559.3	37		CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010262	0.75046	.	.	ENSG00000126870	ENST00000407559	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4	0.55407	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR60	158397000	1.000000	0.71417	0.889000	0.34880	0.941000	0.58515	7.732000	0.84908	1.811000	0.52892	0.260000	0.18958	.		0.333	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	Intron	4	20	0	0	0	1	0	4	20				
GLRB	2743	broad.mit.edu	37	4	158057730	158057730	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:158057730A>C	ENST00000264428.4	+	5	677	c.407A>C	c.(406-408)aAg>aCg	p.K136T	GLRB_ENST00000509282.1_Missense_Mutation_p.K136T|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.K136T	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	136					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACAATGTACAAGTGTTTATGG	0.398																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(406-408)aAg>aCg		glycine receptor, beta	Glycine(DB00145)						97.0	98.0	98.0					4																	158057730		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057730A>C	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.407A>C	4.37:g.158057730A>C	ENSP00000264428:p.Lys136Thr					GLRB_ENST00000541722.1_Missense_Mutation_p.K136T|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.K136T	p.K136T	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	5	677	+	all_hematologic(180;0.24)	Renal(120;0.0458)	136					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.407A>C	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823471	0.71143	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.78246	-1.16;-1.16;-1.16	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	L	0.48877	1.53	0.80722	D	1	P	0.37914	0.611	B	0.40256	0.324	T	0.78204	-0.2295	10	0.72032	D	0.01	.	15.3155	0.74074	1.0:0.0:0.0:0.0	.	136	P48167	GLRB_HUMAN	T	136	ENSP00000264428:K136T;ENSP00000441873:K136T;ENSP00000427186:K136T	ENSP00000264428:K136T	K	+	2	0	GLRB	158277180	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	9.281000	0.95811	2.012000	0.59069	0.455000	0.32223	AAG		0.398	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		22	62	0	0	0	1	0	22	62				
FMO4	2329	broad.mit.edu	37	1	171303840	171303840	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:171303840T>G	ENST00000367749.3	+	8	1448	c.1118T>G	c.(1117-1119)cTt>cGt	p.L373R		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	373					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTATCGGCCTTAAAGGATCC	0.438																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1117-1119)cTt>cGt		flavin containing monooxygenase 4							72.0	72.0	72.0					1																	171303840		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303840T>G	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1118T>G	1.37:g.171303840T>G	ENSP00000356723:p.Leu373Arg						p.L373R	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			8	1448	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		373					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1118T>G	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	T	8.626	0.892440	0.17613	.	.	ENSG00000076258	ENST00000367749	T	0.58652	0.32	5.53	4.41	0.53225	.	0.132668	0.48767	D	0.000162	T	0.43433	0.1247	L	0.41079	1.255	0.09310	N	1	P	0.37061	0.58	P	0.50590	0.645	T	0.41413	-0.9510	10	0.54805	T	0.06	-10.0302	8.3217	0.32132	0.0:0.1541:0.0:0.8459	.	373	P31512	FMO4_HUMAN	R	373	ENSP00000356723:L373R	ENSP00000356723:L373R	L	+	2	0	FMO4	169570464	0.041000	0.20044	0.001000	0.08648	0.080000	0.17528	2.491000	0.45303	0.927000	0.37143	0.477000	0.44152	CTT		0.438	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		15	57	0	0	0	1	0	15	57				
UGT2B28	54490	broad.mit.edu	37	4	70155439	70155439	+	Silent	SNP	G	G	T	rs377325021		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:70155439G>T	ENST00000335568.5	+	4	1061	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	353					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATACTCGGCTGTATAAGTGGA	0.373																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1057-1059)ctG>ctT		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						105.0	138.0	126.0					4																	70155439		1489	2704	4193	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70155439G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1059G>T	4.37:g.70155439G>T						UGT2B28_ENST00000511240.1_Intron	p.L353L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			4	1061	+			353					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1059G>T	CCDS3528.1																																																																																				0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		18	77	1	0	1.02788e-11	1	1.18116e-11	18	77				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	23	0	0	0	1	0	29	23				
BEND2	139105	broad.mit.edu	37	X	18220055	18220055	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:18220055G>A	ENST00000380033.4	-	6	1045	c.913C>T	c.(913-915)Cca>Tca	p.P305S	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	305										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGTCTTTCTGGCATTTCTGTA	0.343																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(913-915)Cca>Tca		BEN domain containing 2							147.0	115.0	126.0					X																	18220055		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18220055G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.913C>T	X.37:g.18220055G>A	ENSP00000369372:p.Pro305Ser					BEND2_ENST00000380030.3_Intron	p.P305S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			6	1045	-			305					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.913C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	-	11.35	1.613288	0.28712	.	.	ENSG00000177324	ENST00000380033	T	0.25579	1.79	3.36	-0.457	0.12186	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	1	P	0.47841	0.901	B	0.43867	0.434	T	0.20338	-1.0278	9	0.22109	T	0.4	-3.5911	6.4647	0.21975	0.478:0.0:0.522:0.0	.	305	Q8NDZ0	BEND2_HUMAN	S	305	ENSP00000369372:P305S	ENSP00000369372:P305S	P	-	1	0	BEND2	18129976	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.154000	0.16343	-0.253000	0.09514	-0.467000	0.05162	CCA		0.343	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		9	16	0	0	0	1	0	9	16				
CACNA1C	775	broad.mit.edu	37	12	2717711	2717711	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:2717711G>T	ENST00000347598.4	+	28	3451	c.3451G>T	c.(3451-3453)Gac>Tac	p.D1151Y	CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1156Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1131Y|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1131Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1151	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACACGGAAGACAAGGGCCC	0.552																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3391-3393)Gac>Tac		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						76.0	70.0	72.0					12																	2717711		2203	4300	6503	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2717711G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3451G>T	12.37:g.2717711G>T	ENSP00000266376:p.Asp1151Tyr					CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1156Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1131Y	p.D1131Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3656	+			1151			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3391G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427030	0.83667	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97066	-4.18;-4.17;-4.15;-4.16;-4.16;-4.17;-4.18;-4.07;-4.11;-4.16;-4.1;-4.09;-4.16;-4.21;-4.08;-4.0;-4.23;-4.17;-4.17;-4.2;-4.11;-4.2;-4.22	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.983;1.0;1.0;0.993;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.986;0.999;0.999;0.999;1.0;0.981;0.976;0.999;0.999;0.967;1.0;0.999;1.0;0.998;0.981;0.999;0.928;0.998;0.999;0.999;0.996;0.997;0.999	D	0.99572	1.0971	10	0.87932	D	0	.	18.2748	0.90078	0.0:0.0:1.0:0.0	.	1131;1128;1151;1131;1131;1131;1131;1131;1131;1151;1131;1102;1151;1131;1131;1131;1131;1131;1131;1131;1131;1131;1131;1131;1131	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	1156;1131;1131;1131;1131;1131;1131;1131;1131;1131;1151;1151;1131;1131;1131;1131;1131;1131;1131;1131;1131;1131;1131;972	ENSP00000336982:D1156Y;ENSP00000382563:D1131Y;ENSP00000437936:D1131Y;ENSP00000382552:D1131Y;ENSP00000382547:D1131Y;ENSP00000382506:D1131Y;ENSP00000382530:D1131Y;ENSP00000382546:D1131Y;ENSP00000382500:D1131Y;ENSP00000382549:D1131Y;ENSP00000266376:D1151Y;ENSP00000382515:D1151Y;ENSP00000382510:D1131Y;ENSP00000341092:D1131Y;ENSP00000382537:D1131Y;ENSP00000329877:D1131Y;ENSP00000382557:D1131Y;ENSP00000385724:D1131Y;ENSP00000382512:D1131Y;ENSP00000382542:D1131Y;ENSP00000382526:D1131Y;ENSP00000385896:D1131Y;ENSP00000382504:D1131Y	ENSP00000323129:D972Y	D	+	1	0	CACNA1C	2587972	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.379000	0.79691	2.618000	0.88619	0.655000	0.94253	GAC		0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		5	10	1	0	5.9392e-07	1	6.43004e-07	5	10				
SLC6A2	6530	broad.mit.edu	37	16	55729260	55729260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:55729260C>T	ENST00000379906.2	+	7	1348	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	SLC6A2_ENST00000561820.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L260F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L365F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.L320F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L365F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	365					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCTCCATCCTTGGTTACAT	0.587																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1093-1095)Ctt>Ttt		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						176.0	123.0	141.0					16																	55729260		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55729260C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1093C>T	16.37:g.55729260C>T	ENSP00000369237:p.Leu365Phe					SLC6A2_ENST00000566163.1_Missense_Mutation_p.L320F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L365F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L365F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L260F	p.L365F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	7	1348	+			365					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1093C>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958909	0.74016	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	D;D;D	0.82619	-1.63;-1.63;-1.63	4.64	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	H	0.95004	3.61	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93474	0.6821	10	0.87932	D	0	.	11.0784	0.48045	0.0:0.8465:0.0:0.1535	.	365;79;260;365	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	F	365;79;365;365	ENSP00000394956:L365F;ENSP00000369237:L365F;ENSP00000219833:L365F	ENSP00000219833:L365F	L	+	1	0	SLC6A2	54286761	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	2.260000	0.43267	2.300000	0.77407	0.650000	0.86243	CTT		0.587	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			12	56	0	0	0	1	0	12	56				
SPTA1	6708	broad.mit.edu	37	1	158648221	158648221	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:158648221G>C	ENST00000368147.4	-	6	962	c.782C>G	c.(781-783)tCc>tGc	p.S261C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	261			S -> P (in EL2). {ECO:0000269|PubMed:2794061}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGCATTGGACAGAGCTTT	0.438																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(781-783)tCc>tGc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							123.0	114.0	117.0					1																	158648221		1872	4117	5989	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648221G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.782C>G	1.37:g.158648221G>C	ENSP00000357129:p.Ser261Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.S261C	p.S261C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	962	-	all_hematologic(112;0.0378)		261		S -> P (in EL2).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.782C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205800	0.39003	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	4.66	4.66	0.58398	.	0.000000	0.31636	N	0.007309	T	0.46210	0.1381	M	0.78049	2.395	0.37926	D	0.931856	D	0.61697	0.99	D	0.69142	0.962	T	0.51647	-0.8679	10	0.56958	D	0.05	.	7.1856	0.25797	0.1808:0.0:0.8192:0.0	.	261	P02549	SPTA1_HUMAN	C	261	ENSP00000357130:S261C;ENSP00000357129:S261C	ENSP00000357129:S261C	S	-	2	0	SPTA1	156914845	1.000000	0.71417	0.209000	0.23619	0.075000	0.17131	4.308000	0.59129	2.572000	0.86782	0.650000	0.86243	TCC		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	57	0	0	0	1	0	9	57				
NF2	4771	broad.mit.edu	37	22	30051658	30051658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr22:30051658C>T	ENST00000338641.4	+	6	1033	c.592C>T	c.(592-594)Cga>Tga	p.R198*	NF2_ENST00000361452.4_Nonsense_Mutation_p.R157*|NF2_ENST00000403435.1_Nonsense_Mutation_p.R198*|NF2_ENST00000361166.4_Nonsense_Mutation_p.R198*|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Nonsense_Mutation_p.R198*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R156*|NF2_ENST00000403999.3_Nonsense_Mutation_p.R198*|NF2_ENST00000334961.7_Nonsense_Mutation_p.R115*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R115*|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	198	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.R198*(3)|p.R198fs*4(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCACCGAGGCCGAGCCAGGTG	0.398			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		7	Substitution - Nonsense(3)|Unknown(3)|Deletion - Frameshift(1)	p.?(3)|p.R198*(3)|p.R198fs*4(1)	soft_tissue(2)|central_nervous_system(2)|meninges(1)|large_intestine(1)|stomach(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CM950856	NF2	M		c.(592-594)Cga>Tga		neurofibromin 2 (merlin)							88.0	92.0	91.0					22																	30051658		2203	4300	6503	SO:0001587	stop_gained	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30051658C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.592C>T	22.37:g.30051658C>T	ENSP00000344666:p.Arg198*					NF2_ENST00000397789.3_Nonsense_Mutation_p.R198*|NF2_ENST00000361452.4_Nonsense_Mutation_p.R157*|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.R198*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R115*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R156*|NF2_ENST00000403999.3_Nonsense_Mutation_p.R198*|NF2_ENST00000361166.4_Nonsense_Mutation_p.R198*|NF2_ENST00000334961.7_Nonsense_Mutation_p.R115*	p.R198*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			6	1033	+			198			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.592C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	39	7.892640	0.98548	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.41	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6654	0.62391	0.5617:0.4383:0.0:0.0	.	.	.	.	X	198;198;157;198;198;115;115;198;156;198	.	.	R	+	1	2	NF2	28381658	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.700000	0.54786	0.566000	0.29273	0.555000	0.69702	CGA		0.398	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		16	23	0	0	0	1	0	16	23				
ERBB3	2065	broad.mit.edu	37	12	56490841	56490841	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:56490841A>T	ENST00000267101.3	+	20	2727	c.2287A>T	c.(2287-2289)Att>Ttt	p.I763F	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.I4F|ERBB3_ENST00000415288.2_Missense_Mutation_p.I704F|ERBB3_ENST00000450146.2_Missense_Mutation_p.I120F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TATGCTGGCCATTGGCAGCCT	0.537																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2287-2289)Att>Ttt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							99.0	81.0	87.0					12																	56490841		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490841A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2287A>T	12.37:g.56490841A>T	ENSP00000267101:p.Ile763Phe					ERBB3_ENST00000553131.1_Missense_Mutation_p.I4F|ERBB3_ENST00000450146.2_Missense_Mutation_p.I120F|ERBB3_ENST00000415288.2_Missense_Mutation_p.I704F	p.I763F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2727	+			763			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2287A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090617	0.76756	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	D;D;D;T	0.82711	-1.64;-1.64;-1.64;-0.0	5.59	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.161524	0.41938	D	0.000797	T	0.74801	0.3764	L	0.28400	0.85	0.50813	D	0.999892	P	0.41929	0.765	B	0.41271	0.352	T	0.75872	-0.3164	10	0.87932	D	0	.	10.1341	0.42695	0.9187:0.0:0.0813:0.0	.	763	P21860	ERBB3_HUMAN	F	763;120;704;4	ENSP00000267101:I763F;ENSP00000399178:I120F;ENSP00000408340:I704F;ENSP00000449129:I4F	ENSP00000267101:I763F	I	+	1	0	ERBB3	54777108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.844000	0.75390	1.070000	0.40811	0.459000	0.35465	ATT		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			13	50	0	0	0	1	0	13	50				
CARD11	84433	broad.mit.edu	37	7	2969673	2969673	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:2969673G>A	ENST00000396946.4	-	12	2009	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	536					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAGCTAGGGCTGGCGTCC	0.627			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1606-1608)Cct>Tct		caspase recruitment domain family, member 11							129.0	89.0	103.0					7																	2969673		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2969673G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1606C>T	7.37:g.2969673G>A	ENSP00000380150:p.Pro536Ser						p.P536S	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	12	2009	-		Ovarian(82;0.0115)	536					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1606C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	2.188	-0.385914	0.04966	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.29142	1.58;2.34	4.0	3.02	0.34903	.	0.204155	0.41938	D	0.000795	T	0.11537	0.0281	N	0.08118	0	0.37218	D	0.905097	B	0.11235	0.004	B	0.04013	0.001	T	0.17258	-1.0375	10	0.07644	T	0.81	-34.9872	6.4562	0.21930	0.0:0.1981:0.5976:0.2043	.	536	Q9BXL7	CAR11_HUMAN	S	536;8	ENSP00000380150:P536S;ENSP00000347695:P8S	ENSP00000347695:P8S	P	-	1	0	CARD11	2936199	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	2.809000	0.47971	2.225000	0.72522	0.561000	0.74099	CCT		0.627	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	44	0	0	0	1	0	12	44				
MICAL1	64780	broad.mit.edu	37	6	109770680	109770680	+	Missense_Mutation	SNP	C	C	A	rs143598372		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:109770680C>A	ENST00000358807.3	-	11	1750	c.1439G>T	c.(1438-1440)cGa>cTa	p.R480L	MICAL1_ENST00000358577.3_Missense_Mutation_p.R394L|MICAL1_ENST00000368952.4_Missense_Mutation_p.R499L|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	480	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATACAGGTCTCGTACCTAAGG	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1495-1497)cGa>cTa		microtubule associated monooxygenase, calponin and LIM domain containing 1							149.0	129.0	136.0					6																	109770680		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109770680C>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1439G>T	6.37:g.109770680C>A	ENSP00000351664:p.Arg480Leu					MICAL1_ENST00000358577.3_Missense_Mutation_p.R394L|MICAL1_ENST00000358807.3_Missense_Mutation_p.R480L	p.R499L			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	11	1786	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	480					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1496G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560695	0.45590	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577	T;T;T	0.59502	0.26;0.26;0.26	4.71	0.466	0.16716	Calponin homology domain (1);	0.550352	0.15769	N	0.245506	T	0.24661	0.0598	L	0.49350	1.555	0.27500	N	0.952029	P;P;B	0.35844	0.499;0.524;0.389	B;B;B	0.28849	0.061;0.095;0.044	T	0.05131	-1.0904	10	0.51188	T	0.08	.	7.1823	0.25780	0.0:0.571:0.0:0.429	.	499;394;480	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	L	480;499;394	ENSP00000351664:R480L;ENSP00000357948:R499L;ENSP00000351385:R394L	ENSP00000351385:R394L	R	-	2	0	MICAL1	109877373	0.019000	0.18553	0.930000	0.37139	0.960000	0.62799	0.082000	0.14847	-0.023000	0.13963	0.655000	0.94253	CGA		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		15	67	1	0	6.31663e-08	1	6.9536e-08	15	67				
KIAA0556	23247	broad.mit.edu	37	16	27751397	27751397	+	Silent	SNP	C	C	T	rs574398462		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:27751397C>T	ENST00000261588.4	+	15	1798	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	593						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGAAGCTTTACGTCAACAGAA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		20276	0.0		0.001	False		,,,				2504	0.0					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(1777-1779)taC>taT		KIAA0556							100.0	94.0	96.0					16																	27751397		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751397C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1779C>T	16.37:g.27751397C>T							p.Y593Y	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	1798	+			593					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.1779C>T	CCDS32415.1																																																																																				0.438	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		15	74	0	0	0	1	0	15	74				
KCTD19	146212	broad.mit.edu	37	16	67337093	67337093	+	Missense_Mutation	SNP	G	G	A	rs190821373		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:67337093G>A	ENST00000304372.5	-	4	654	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	200					protein homooligomerization (GO:0051260)			p.T200M(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAGGGCCACCGTCTCAGCCAG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16575	0.0		0.0	False		,,,				2504	0.0					ENST00000304372.5																			1	Substitution - Missense(1)	p.T200M(1)	lung(1)	endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(598-600)aCg>aTg		potassium channel tetramerization domain containing 19							76.0	79.0	78.0					16																	67337093		2094	4203	6297	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67337093G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.599C>T	16.37:g.67337093G>A	ENSP00000305702:p.Thr200Met					KCTD19_ENST00000562860.1_5'UTR	p.T200M	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	4	654	-		Ovarian(137;0.192)	200					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.599C>T	CCDS42179.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.944464	0.73672	.	.	ENSG00000168676	ENST00000304372	T	0.59083	0.29	5.82	3.73	0.42828	BTB/POZ fold (1);	0.164318	0.43747	D	0.000540	T	0.35364	0.0929	N	0.08118	0	0.30831	N	0.736678	D	0.67145	0.996	P	0.45276	0.475	T	0.40590	-0.9555	10	0.72032	D	0.01	-14.7963	6.1363	0.20235	0.0934:0.0:0.6671:0.2395	.	200	Q17RG1	KCD19_HUMAN	M	200	ENSP00000305702:T200M	ENSP00000305702:T200M	T	-	2	0	KCTD19	65894594	0.998000	0.40836	0.953000	0.39169	0.987000	0.75469	3.167000	0.50793	2.757000	0.94681	0.655000	0.94253	ACG		0.612	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		9	20	0	0	0	1	0	9	20				
REXO1	57455	broad.mit.edu	37	19	1821533	1821533	+	Silent	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:1821533G>A	ENST00000170168.4	-	5	2473	c.2379C>T	c.(2377-2379)caC>caT	p.H793H	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	793						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATGGACTGTGGGCGATTC	0.647																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2377-2379)caC>caT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							201.0	152.0	168.0					19																	1821533		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1821533G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2379C>T	19.37:g.1821533G>A							p.H793H	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2473	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	793					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2379C>T	CCDS32866.1																																																																																				0.647	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		24	91	0	0	0	1	0	24	91				
OLFM3	118427	broad.mit.edu	37	1	102296366	102296366	+	Silent	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:102296366C>T	ENST00000338858.5	-	3	293	c.294G>A	c.(292-294)caG>caA	p.Q98Q	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.Q78Q|OLFM3_ENST00000536598.1_Silent_p.Q3Q|OLFM3_ENST00000359814.3_Silent_p.Q98Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	98					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTCAATAGACTGGGACATGT	0.353																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(232-234)caG>caA		olfactomedin 3							103.0	104.0	103.0					1																	102296366		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102296366C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.294G>A	1.37:g.102296366C>T						OLFM3_ENST00000338858.5_Silent_p.Q98Q|OLFM3_ENST00000359814.3_Silent_p.Q98Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Silent_p.Q3Q	p.Q78Q	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	3	447	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	98					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.234G>A																																																																																					0.353	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			9	46	0	0	0	1	0	9	46				
CHAD	1101	broad.mit.edu	37	17	48545748	48545748	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr17:48545748G>A	ENST00000508540.1	-	1	579	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L143F|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	143					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCGGGGAGAGCAACCCCCGG	0.632																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(427-429)Ctc>Ttc		chondroadherin							46.0	43.0	44.0					17																	48545748		2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545748G>A	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.427C>T	17.37:g.48545748G>A	ENSP00000423812:p.Leu143Phe					ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L143F|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron	p.L143F	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	579	-	Breast(11;1.93e-18)		143					A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.427C>T	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241063	0.22711	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.42900	0.96;0.96	4.77	3.8	0.43715	.	0.058000	0.64402	D	0.000001	T	0.13415	0.0325	N	0.01668	-0.77	0.42490	D	0.992893	B	0.06786	0.001	B	0.09377	0.004	T	0.20042	-1.0287	10	0.02654	T	1	.	9.295	0.37811	0.1624:0.0:0.8376:0.0	.	143	O15335	CHAD_HUMAN	F	143	ENSP00000423812:L143F;ENSP00000258969:L143F	ENSP00000258969:L143F	L	-	1	0	CHAD	45900747	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	6.343000	0.72986	1.234000	0.43709	0.563000	0.77884	CTC		0.632	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		17	54	0	0	0	1	0	17	54				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_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		3	36	0	0	0	1	0	3	36				
ZFHX4	79776	broad.mit.edu	37	8	77618518	77618518	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:77618518A>T	ENST00000521891.2	+	2	2643	c.2195A>T	c.(2194-2196)aAt>aTt	p.N732I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N732I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N732I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N732I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTCCAAAATGGCAATGGT	0.517										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2194-2196)aAt>aTt		zinc finger homeobox 4							61.0	64.0	63.0					8																	77618518		2188	4296	6484	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618518A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2195A>T	8.37:g.77618518A>T	ENSP00000430497:p.Asn732Ile	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.N732I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N732I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N732I|ZFHX4_ENST00000517683.1_Intron	p.N732I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2643	+			732					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2195A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450501	0.43531	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.99	4.99	0.66335	.	0.000000	0.47455	U	0.000233	T	0.63815	0.2543	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.997;0.999;0.999;0.975	T	0.67868	-0.5559	10	0.72032	D	0.01	.	15.1453	0.72647	1.0:0.0:0.0:0.0	.	732;732;732;732	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	732	ENSP00000430497:N732I;ENSP00000399605:N732I;ENSP00000050961:N732I;ENSP00000430848:N732I	ENSP00000050961:N732I	N	+	2	0	ZFHX4	77781073	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.087000	0.94110	2.216000	0.71823	0.528000	0.53228	AAT		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	28	0	0	0	1	0	16	28				
ASPRV1	151516	broad.mit.edu	37	2	70188289	70188289	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:70188289C>A	ENST00000320256.4	-	1	1108	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGCTGGGGGCAGCCCCAGGG	0.587																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(532-534)Gcc>Tcc		aspartic peptidase, retroviral-like 1							45.0	49.0	47.0					2																	70188289		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188289C>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.532G>T	2.37:g.70188289C>A	ENSP00000315383:p.Ala178Ser						p.A178S	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1108	-			178						Missense_Mutation	SNP	ENST00000320256.4	37	c.532G>T	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	3.812	-0.039433	0.07497	.	.	ENSG00000244617	ENST00000320256	T	0.50001	0.76	5.25	0.35	0.16037	.	0.685983	0.11356	U	0.572413	T	0.29190	0.0726	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.20273	-1.0280	10	0.56958	D	0.05	-4.33	4.1657	0.10305	0.1505:0.5131:0.0:0.3365	.	178	Q53RT3	APRV1_HUMAN	S	178	ENSP00000315383:A178S	ENSP00000315383:A178S	A	-	1	0	ASPRV1	70041793	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.581000	0.02119	-0.243000	0.09653	-0.291000	0.09656	GCC		0.587	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		19	40	1	0	1.33834e-09	1	1.48578e-09	19	40				
DCUN1D3	123879	broad.mit.edu	37	16	20871437	20871437	+	Missense_Mutation	SNP	G	G	A	rs149680095		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:20871437G>A	ENST00000324344.4	-	3	971	c.686C>T	c.(685-687)aCa>aTa	p.T229I	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.T229I|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	229	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GGGGTTCTCTGTTAGGAAGTT	0.517																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(685-687)aCa>aTa		DCN1, defective in cullin neddylation 1, domain containing 3		G	ILE/THR	1,4401	2.1+/-5.4	0,1,2200	142.0	141.0	141.0		686	6.1	1.0	16	dbSNP_134	141	0,8600		0,0,4300	no	missense	DCUN1D3	NM_173475.2	89	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	229/305	20871437	1,13001	2201	4300	6501	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871437G>A	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.686C>T	16.37:g.20871437G>A	ENSP00000319482:p.Thr229Ile					DCUN1D3_ENST00000563934.1_Missense_Mutation_p.T229I|ERI2_ENST00000564349.1_Intron	p.T229I	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	971	-			229			DCUN1.		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.686C>T	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756332	0.31137	2.27E-4	0.0	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	Domain of unknown function DUF298 (2);	0.372849	0.32868	N	0.005543	T	0.49525	0.1562	L	0.47716	1.5	0.34601	D	0.71647	B	0.10296	0.003	B	0.11329	0.006	T	0.56637	-0.7946	9	0.51188	T	0.08	-15.7597	9.4785	0.38887	0.0766:0.0:0.7777:0.1456	.	229	Q8IWE4	DCNL3_HUMAN	I	229	.	ENSP00000319482:T229I	T	-	2	0	DCUN1D3	20778938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.780000	0.55386	2.894000	0.99253	0.655000	0.94253	ACA		0.517	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		29	104	0	0	0	1	0	29	104				
HNRNPR	10236	broad.mit.edu	37	1	23637080	23637080	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:23637080T>A	ENST00000374612.1	-	11	1892	c.1769A>T	c.(1768-1770)aAc>aTc	p.N590I	HNRNPR_ENST00000427764.2_Missense_Mutation_p.N552I|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000302271.6_Missense_Mutation_p.N590I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N593I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N430I|HNRNPR_ENST00000478691.1_Missense_Mutation_p.N492I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N451I	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	590	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTCTGTTGGTTGTTGGTCTG	0.522																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1474-1476)aAc>aTc		heterogeneous nuclear ribonucleoprotein R							213.0	186.0	195.0					1																	23637080		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637080T>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1769A>T	1.37:g.23637080T>A	ENSP00000363741:p.Asn590Ile					HNRNPR_ENST00000302271.6_Missense_Mutation_p.N590I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N430I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N451I|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N590I|HNRNPR_ENST00000427764.2_Missense_Mutation_p.N552I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N593I|HNRNPR_ENST00000476660.1_5'UTR	p.N492I	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1746	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	590			3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1475A>T	CCDS232.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290895	0.23564	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.20598	2.06;2.07;2.07;2.37;2.91	5.42	4.27	0.50696	.	0.134755	0.64402	D	0.000003	T	0.26268	0.0641	M	0.68317	2.08	0.58432	D	0.999999	B;P;P;P;P;P	0.52061	0.392;0.917;0.917;0.917;0.917;0.95	B;B;B;B;B;P	0.45099	0.137;0.278;0.278;0.207;0.278;0.469	T	0.04347	-1.0958	10	0.66056	D	0.02	-2.9892	10.2207	0.43194	0.0:0.0884:0.0:0.9116	.	430;552;451;570;590;593	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	I	593;590;590;552;430	ENSP00000363745:N593I;ENSP00000363741:N590I;ENSP00000304405:N590I;ENSP00000392799:N552I;ENSP00000415042:N430I	ENSP00000304405:N590I	N	-	2	0	HNRNPR	23509667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.039000	0.70972	2.275000	0.75901	0.528000	0.53228	AAC		0.522	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		52	137	0	0	0	1	0	52	137				
KIF25	3834	broad.mit.edu	37	6	168440845	168440845	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:168440845C>T	ENST00000443060.2	+	7	986	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	KIF25_ENST00000351261.3_Missense_Mutation_p.H199Y|KIF25_ENST00000354419.2_Missense_Mutation_p.H199Y			Q9UIL4	KIF25_HUMAN	kinesin family member 25	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCCAGGTCTCACCTGATAAT	0.557																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(595-597)Cac>Tac		kinesin family member 25							78.0	66.0	70.0					6																	168440845		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440845C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.595C>T	6.37:g.168440845C>T	ENSP00000388878:p.His199Tyr					KIF25_ENST00000351261.3_Missense_Mutation_p.H199Y|KIF25_ENST00000354419.2_Missense_Mutation_p.H199Y	p.H199Y			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	986	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	199			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.595C>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516543	0.44763	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	D;D;D	0.93659	-3.26;-3.26;-3.26	4.09	4.09	0.47781	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97253	0.9102	H	0.96398	3.815	0.44890	D	0.9979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97934	1.0322	10	0.87932	D	0	-25.7881	11.8028	0.52137	0.0:1.0:0.0:0.0	.	199;199	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	Y	199	ENSP00000388878:H199Y;ENSP00000346401:H199Y;ENSP00000252688:H199Y	ENSP00000252688:H199Y	H	+	1	0	KIF25	168183694	1.000000	0.71417	0.447000	0.26932	0.121000	0.20230	5.281000	0.65609	1.821000	0.53095	0.411000	0.27672	CAC		0.557	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			15	29	0	0	0	1	0	15	29				
PCLO	27445	broad.mit.edu	37	7	82764191	82764191	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:82764191G>C	ENST00000333891.9	-	3	3012	c.2675C>G	c.(2674-2676)cCt>cGt	p.P892R	PCLO_ENST00000423517.2_Missense_Mutation_p.P892R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACTGTTGAGGTGTGGGGAC	0.532																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2674-2676)cCt>cGt		piccolo presynaptic cytomatrix protein							195.0	194.0	194.0					7																	82764191		1982	4160	6142	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764191G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2675C>G	7.37:g.82764191G>C	ENSP00000334319:p.Pro892Arg					PCLO_ENST00000333891.8_Missense_Mutation_p.P892R	p.P892R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3012	-			838			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2675C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617308	0.28801	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19532	2.16;2.14	6.07	6.07	0.98685	.	.	.	.	.	T	0.17023	0.0409	N	0.22421	0.69	0.80722	D	1	P;P	0.42203	0.773;0.773	B;B	0.33521	0.165;0.165	T	0.02109	-1.1212	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	892;892	Q9Y6V0-5;Q9Y6V0-6	.;.	R	838;892;892	ENSP00000334319:P892R;ENSP00000388393:P892R	ENSP00000334319:P892R	P	-	2	0	PCLO	82602127	0.996000	0.38824	0.484000	0.27391	0.900000	0.52787	4.459000	0.60102	2.884000	0.98904	0.655000	0.94253	CCT		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		39	182	0	0	0	1	0	39	182				
KMT2E	55904	broad.mit.edu	37	7	104717552	104717552	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:104717552C>T	ENST00000311117.3	+	10	1456	c.911C>T	c.(910-912)gCt>gTt	p.A304V	KMT2E_ENST00000476671.1_Missense_Mutation_p.A304V|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304V|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.A304V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	304					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAAAGAATAGCTCTGAGATTA	0.388																																						ENST00000334877.4																			0											c.(910-912)gCt>gTt		lysine (K)-specific methyltransferase 2E							122.0	111.0	115.0					7																	104717552		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104717552C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.911C>T	7.37:g.104717552C>T	ENSP00000312379:p.Ala304Val					KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.A304V|KMT2E_ENST00000311117.3_Missense_Mutation_p.A304V|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304V	p.A304V							10	1445	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.911C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421666	0.62622	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.96041	-2.99;-2.61;-2.99;-3.89;-3.36	6.07	6.07	0.98685	.	0.116849	0.64402	D	0.000011	D	0.94251	0.8154	L	0.44542	1.39	0.80722	D	1	D;B	0.56521	0.976;0.4	P;B	0.46659	0.523;0.121	D	0.92101	0.5688	10	0.22706	T	0.39	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	304;304	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	V	304;304;304;304;304;162;304;238	ENSP00000312379:A304V;ENSP00000335599:A304V;ENSP00000257745:A304V;ENSP00000419883:A162V;ENSP00000417888:A304V	ENSP00000257745:A304V	A	+	2	0	MLL5	104504788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.885000	0.99019	0.655000	0.94253	GCT		0.388	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			6	29	0	0	0	1	0	6	29				
LRP1	4035	broad.mit.edu	37	12	57573659	57573659	+	Silent	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:57573659C>A	ENST00000243077.3	+	30	5527	c.5061C>A	c.(5059-5061)gcC>gcA	p.A1687A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1687					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAATGTGGCCCGGCTGGATG	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5059-5061)gcC>gcA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						105.0	108.0	107.0					12																	57573659		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573659C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5061C>A	12.37:g.57573659C>A							p.A1687A	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	30	5527	+			1687					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5061C>A	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	84	1	0	1.5548e-18	1	1.83494e-18	25	84				
CPT1A	1374	broad.mit.edu	37	11	68552417	68552417	+	Silent	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:68552417G>A	ENST00000265641.5	-	10	1183	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	CPT1A_ENST00000539743.1_Silent_p.F343F|CPT1A_ENST00000376618.2_Silent_p.F343F|CPT1A_ENST00000540367.1_Silent_p.F343F	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	343			F -> V (in CPT1AD). {ECO:0000269|PubMed:15110323}.		carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCAGACCTTGAAGTAGCGTC	0.592																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1027-1029)ttC>ttT		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						159.0	124.0	136.0					11																	68552417		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68552417G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1029C>T	11.37:g.68552417G>A						CPT1A_ENST00000376618.2_Silent_p.F343F|CPT1A_ENST00000539743.1_Silent_p.F343F|CPT1A_ENST00000540367.1_Silent_p.F343F	p.F343F	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		10	1183	-	Esophageal squamous(3;3.28e-14)		343		F -> V (in CPT1AD).			Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1029C>T	CCDS8185.1																																																																																				0.592	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		14	358	0	0	0	1	0	14	358				
RSBN1	54665	broad.mit.edu	37	1	114308737	114308737	+	Silent	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:114308737T>A	ENST00000261441.5	-	7	2337	c.2274A>T	c.(2272-2274)tcA>tcT	p.S758S	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	758						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGAAAGATGATGAAGCAG	0.418																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2272-2274)tcA>tcT		round spermatid basic protein 1							203.0	189.0	194.0					1																	114308737		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308737T>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2274A>T	1.37:g.114308737T>A							p.S758S	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2337	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	758					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2274A>T	CCDS862.1																																																																																				0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		29	82	0	0	0	1	0	29	82				
CERS2	29956	broad.mit.edu	37	1	150939941	150939941	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:150939941T>C	ENST00000271688.6	-	7	925	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.Y180C|CERS2_ENST00000561294.1_Missense_Mutation_p.Y171C|CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	180	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GTAGTACCAATACTGGGAAGG	0.527																																						ENST00000271688.6																			0											c.(538-540)tAt>tGt		ceramide synthase 2							79.0	73.0	75.0					1																	150939941		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150939941T>C	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.539A>G	1.37:g.150939941T>C	ENSP00000271688:p.Tyr180Cys					CERS2_ENST00000368954.5_Missense_Mutation_p.Y180C|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.Y171C	p.Y180C	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			7	925	-			180			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.539A>G	CCDS973.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409580	0.83340	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;D;T	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;2.16	5.42	5.42	0.78866	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92866	0.6310	10	0.44086	T	0.13	-12.9543	15.1245	0.72472	0.0:0.0:0.0:1.0	.	180	Q96G23	CERS2_HUMAN	C	180;180;30;200;180;180	ENSP00000357950:Y180C;ENSP00000271688:Y180C;ENSP00000337842:Y30C;ENSP00000357945:Y200C;ENSP00000355020:Y180C;ENSP00000393239:Y180C	ENSP00000271688:Y180C	Y	-	2	0	CERS2	149206565	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	3.260000	0.51523	2.050000	0.60909	0.533000	0.62120	TAT		0.527	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		15	46	0	0	0	1	0	15	46				
OR10H3	26532	broad.mit.edu	37	19	15852977	15852977	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:15852977C>G	ENST00000305892.1	+	1	775	c.775C>G	c.(775-777)Ctt>Gtt	p.L259V		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTTTGCCTCCCTTATCTACCT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(775-777)Ctt>Gtt		olfactory receptor, family 10, subfamily H, member 3							180.0	152.0	161.0					19																	15852977		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852977C>G		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.775C>G	19.37:g.15852977C>G	ENSP00000307130:p.Leu259Val						p.L259V	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	775	+			259					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.775C>G	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.792274	0.00623	.	.	ENSG00000171936	ENST00000305892	T	0.00099	8.73	2.37	-2.09	0.07232	GPCR, rhodopsin-like superfamily (1);	0.647393	0.12347	U	0.476943	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.14008	-1.0488	10	0.37606	T	0.19	.	0.684	0.00880	0.2023:0.2176:0.3752:0.205	.	259	O60404	O10H3_HUMAN	V	259	ENSP00000307130:L259V	ENSP00000307130:L259V	L	+	1	0	OR10H3	15713977	0.000000	0.05858	0.276000	0.24689	0.062000	0.15995	-0.838000	0.04372	-0.504000	0.06577	0.205000	0.17691	CTT		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			26	94	0	0	0	1	0	26	94				
FGFR3	2261	broad.mit.edu	37	4	1808391	1808391	+	Missense_Mutation	SNP	G	G	A	rs17882190	byFrequency	TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:1808391G>A	ENST00000260795.2	+	15	2251	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	FGFR3_ENST00000340107.4_Missense_Mutation_p.A719T|FGFR3_ENST00000440486.2_Missense_Mutation_p.A717T|FGFR3_ENST00000412135.2_Missense_Mutation_p.A605T|FGFR3_ENST00000481110.2_Missense_Mutation_p.R694H|FGFR3_ENST00000352904.1_Missense_Mutation_p.A605T			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	717	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs17882190). {ECO:0000269|Ref.4}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGACAAGCCCGCCAACTGCAC	0.692		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				g|||	2	0.000399361	0.0015	0.0	5008	,	,		11849	0.0		0.0	False		,,,				2504	0.0					ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2155-2157)Gcc>Acc		fibroblast growth factor receptor 3	Palifermin(DB00039)	G	THR/ALA,THR/ALA,THR/ALA	13,4393	19.1+/-41.9	0,13,2190	31.0	35.0	33.0		2149,2155,1813	4.5	1.0	4	dbSNP_124	33	0,8600		0,0,4300	yes	missense,missense,missense	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	58,58,58	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	benign,benign,benign	717/807,719/809,605/695	1808391	13,12993	2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808391G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2149G>A	4.37:g.1808391G>A	ENSP00000260795:p.Ala717Thr					FGFR3_ENST00000440486.2_Missense_Mutation_p.A717T|FGFR3_ENST00000352904.1_Missense_Mutation_p.A605T|FGFR3_ENST00000412135.2_Missense_Mutation_p.A605T|FGFR3_ENST00000260795.2_Missense_Mutation_p.A717T|FGFR3_ENST00000481110.2_Missense_Mutation_p.R694H	p.A719T	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		16	2411	+		Breast(71;0.212)|all_epithelial(65;0.241)	717			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2155G>A	CCDS3353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.11|16.11	3.029269|3.029269	0.54790|0.54790	0.002951|0.002951	0.0|0.0	ENSG00000068078|ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904|ENST00000481110	D;D;D;D;D|T	0.82803|0.80909	-1.65;-1.65;-1.65;-1.65;-1.65|-1.43	4.49|4.49	4.49|4.49	0.54785|0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	.|0.512087	.|0.20517	.|N	.|0.090763	T|T	0.70219|0.70219	0.3199|0.3199	N|N	0.17278|0.17278	0.47|0.47	0.80722|0.80722	D|D	1|1	B;B;B|B	0.27416|0.02656	0.178;0.064;0.059|0.0	B;B;B|B	0.22601|0.04013	0.04;0.006;0.016|0.001	T|T	0.67280|0.67280	-0.5710|-0.5710	9|10	0.31617|0.56958	T|D	0.26|0.05	.|.	17.5412|17.5412	0.87848|0.87848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs17882190|rs17882190	719;605;717|694	P22607-2;P22607-3;P22607|F8W9L4	.;.;FGFR3_HUMAN|.	T|H	719;717;605;717;605|694	ENSP00000339824:A719T;ENSP00000414914:A717T;ENSP00000412903:A605T;ENSP00000260795:A717T;ENSP00000231803:A605T|ENSP00000420533:R694H	ENSP00000260795:A717T|ENSP00000420533:R694H	A|R	+|+	1|2	0|0	FGFR3|FGFR3	1778189|1778189	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.717000|0.717000	0.41224|0.41224	3.880000|3.880000	0.56145|0.56145	2.206000|2.206000	0.71126|0.71126	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		3	32	0	0	0	1	0	3	32				
GRM8	2918	broad.mit.edu	37	7	126746673	126746673	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:126746673G>C	ENST00000339582.2	-	3	1412	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	GRM8_ENST00000405249.1_Missense_Mutation_p.Q202E|GRM8_ENST00000358373.3_Missense_Mutation_p.Q202E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Q202E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	202					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTTGGGCTTGGTAGGAGTCA	0.512										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(604-606)Caa>Gaa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						147.0	138.0	141.0					7																	126746673		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746673G>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.604C>G	7.37:g.126746673G>C	ENSP00000344173:p.Gln202Glu	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Missense_Mutation_p.Q202E|GRM8_ENST00000358373.3_Missense_Mutation_p.Q202E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Q202E	p.Q202E			O00222	GRM8_HUMAN			3	1412	-		Prostate(267;0.186)	202					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.604C>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518802	0.85495	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	M	0.93898	3.47	0.80722	D	1	P;D	0.89917	0.954;1.0	D;D	0.91635	0.954;0.999	D	0.97117	0.9808	10	0.87932	D	0	.	17.5651	0.87917	0.0:0.0:1.0:0.0	.	202;202	O00222-2;O00222	.;GRM8_HUMAN	E	202;202;202;202;202;12	ENSP00000344173:Q202E;ENSP00000409790:Q202E;ENSP00000351142:Q202E;ENSP00000385731:Q202E;ENSP00000415522:Q202E;ENSP00000418255:Q12E	ENSP00000344173:Q202E	Q	-	1	0	GRM8	126533909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.386000	0.81285	0.563000	0.77884	CAA		0.512	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	37	0	0	0	1	0	11	37				
LEPR	3953	broad.mit.edu	37	1	66088607	66088607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:66088607G>A	ENST00000349533.6	+	19	2801	c.2616G>A	c.(2614-2616)tgG>tgA	p.W872*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W872*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W872*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W872*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGCTATTTTGGGAAGATGTTC	0.348																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2614-2616)tgG>tgA		leptin receptor							93.0	94.0	94.0					1																	66088607		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66088607G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2616G>A	1.37:g.66088607G>A	ENSP00000330393:p.Trp872*					LEPR_ENST00000371060.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W872*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W872*|LEPR_ENST00000406510.3_Intron	p.W872*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	19	2801	+			872					Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2616G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	41	8.830383	0.98970	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4332	18.8318	0.92143	0.0:0.0:1.0:0.0	.	.	.	.	X	872	.	ENSP00000340884:W872X	W	+	3	0	LEPR	65861195	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.974000	0.76122	2.495000	0.84180	0.650000	0.86243	TGG		0.348	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		9	21	0	0	0	1	0	9	21				
HMCN1	83872	broad.mit.edu	37	1	186063420	186063420	+	Silent	SNP	T	T	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:186063420T>C	ENST00000271588.4	+	67	10438	c.10209T>C	c.(10207-10209)gcT>gcC	p.A3403A	HMCN1_ENST00000367492.2_Silent_p.A3403A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3403	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTGAGAGCTCAGGTGTCTG	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10207-10209)gcT>gcC		hemicentin 1							228.0	201.0	210.0					1																	186063420		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186063420T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10209T>C	1.37:g.186063420T>C						HMCN1_ENST00000367492.2_Silent_p.A3403A	p.A3403A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			67	10438	+			3403			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10209T>C	CCDS30956.1																																																																																				0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	39	0	0	0	1	0	9	39				
RBM14	10432	broad.mit.edu	37	11	66394099	66394099	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:66394099G>A	ENST00000310137.4	+	3	2109	c.1970G>A	c.(1969-1971)cGg>cAg	p.R657Q	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000393979.3_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	657					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GATTACCTGCGGGCGGCTCAG	0.607																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1969-1971)cGg>cAg		RNA binding motif protein 14							37.0	34.0	35.0					11																	66394099		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66394099G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1970G>A	11.37:g.66394099G>A	ENSP00000311747:p.Arg657Gln					RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron	p.R657Q	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			3	2109	+			657					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1970G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474215	0.63737	.	.	ENSG00000239306	ENST00000310137	D	0.86230	-2.09	5.16	5.16	0.70880	.	0.068972	0.56097	D	0.000021	D	0.88295	0.6398	L	0.27053	0.805	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	D	0.89878	0.4028	10	0.72032	D	0.01	-0.7838	16.1515	0.81626	0.0:0.0:1.0:0.0	.	657	Q96PK6	RBM14_HUMAN	Q	657	ENSP00000311747:R657Q	ENSP00000311747:R657Q	R	+	2	0	RBM14	66150675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.123000	0.50453	2.425000	0.82216	0.557000	0.71058	CGG		0.607	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		10	9	0	0	0	1	0	10	9				
GTPBP4	23560	broad.mit.edu	37	10	1056448	1056448	+	Silent	SNP	A	A	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:1056448A>T	ENST00000360803.4	+	13	1414	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.P397P|GTPBP4_ENST00000538293.1_Silent_p.P328P	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	444					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATATTGATCCAGCCATCATGA	0.353																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(1330-1332)ccA>ccT		GTP binding protein 4							158.0	150.0	152.0					10																	1056448		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1056448A>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1332A>T	10.37:g.1056448A>T						GTPBP4_ENST00000545048.1_Silent_p.P397P|GTPBP4_ENST00000538293.1_Silent_p.P328P|GTPBP4_ENST00000491635.1_3'UTR	p.P444P	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	13	1414	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	444					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.1332A>T	CCDS31132.1																																																																																				0.353	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		7	53	0	0	0	1	0	7	53				
TECRL	253017	broad.mit.edu	37	4	65274925	65274925	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:65274925T>A	ENST00000381210.3	-	1	255	c.145A>T	c.(145-147)Act>Tct	p.T49S	TECRL_ENST00000507440.1_Missense_Mutation_p.T49S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	49					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTGCTGGAGTTGGTCTTAGA	0.368																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(145-147)Act>Tct		trans-2,3-enoyl-CoA reductase-like							76.0	75.0	75.0					4																	65274925		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274925T>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.145A>T	4.37:g.65274925T>A	ENSP00000370607:p.Thr49Ser					TECRL_ENST00000507440.1_Missense_Mutation_p.T49S	p.T49S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			1	255	-			49						Missense_Mutation	SNP	ENST00000381210.3	37	c.145A>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	T	0.677	-0.799800	0.02841	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.46063	0.88;0.88;0.88	4.57	-5.4	0.02656	.	1.118960	0.06612	N	0.755777	T	0.20740	0.0499	L	0.31294	0.92	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.28964	-1.0027	10	0.07325	T	0.83	-0.3687	3.1987	0.06643	0.1287:0.4215:0.1318:0.3181	.	49;49	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	S	49	ENSP00000426043:T49S;ENSP00000370607:T49S;ENSP00000422497:T49S	ENSP00000370607:T49S	T	-	1	0	TECRL	64957520	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-0.699000	0.05077	-1.004000	0.02495	ACT		0.368	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		17	29	0	0	0	1	0	17	29				
SCGB1D4	404552	broad.mit.edu	37	11	62065047	62065047	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:62065047C>A	ENST00000358585.1	-	2	192	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	47						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						TTAAGTTTGGCAACTTGGAGG	0.448																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(139-141)Gcc>Tcc		secretoglobin, family 1D, member 4							155.0	162.0	160.0					11																	62065047		2202	4299	6501	SO:0001583	missense	404552					extracellular region	binding	g.chr11:62065047C>A	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.139G>T	11.37:g.62065047C>A	ENSP00000351395:p.Ala47Ser						p.A47S	NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN			2	192	-			47					A1L4Q8	Missense_Mutation	SNP	ENST00000358585.1	37	c.139G>T	CCDS31583.1	.	.	.	.	.	.	.	.	.	.	C	2.005	-0.428449	0.04701	.	.	ENSG00000197745	ENST00000358585	T	0.14640	2.49	1.65	-0.811	0.10857	.	7.298260	0.00909	N	0.002454	T	0.16471	0.0396	.	.	.	0.09310	N	1	P	0.48089	0.905	P	0.51999	0.687	T	0.11991	-1.0565	9	0.24483	T	0.36	.	2.4177	0.04440	0.285:0.5187:0.0:0.1964	.	47	Q6XE38	SG1D4_HUMAN	S	47	ENSP00000351395:A47S	ENSP00000351395:A47S	A	-	1	0	SCGB1D4	61821623	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-4.274000	0.00262	-0.199000	0.10317	0.479000	0.44913	GCC		0.448	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		48	119	1	0	1.48734e-19	1	1.77128e-19	48	119				
BTBD3	22903	broad.mit.edu	37	20	11899106	11899106	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:11899106G>T	ENST00000405977.1	+	2	808	c.183G>T	c.(181-183)aaG>aaT	p.K61N	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.K61N	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.K61K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAAGAAGAAGATGGCTGCTG	0.448																																						ENST00000405977.1																			1	Substitution - coding silent(1)	p.K61K(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(181-183)aaG>aaT		BTB (POZ) domain containing 3							133.0	150.0	145.0					20																	11899106		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899106G>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.183G>T	20.37:g.11899106G>T	ENSP00000384545:p.Lys61Asn					BTBD3_ENST00000378226.2_Missense_Mutation_p.K61N|BTBD3_ENST00000399006.2_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR	p.K61N			Q9Y2F9	BTBD3_HUMAN			2	808	+			61					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.183G>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310400	0.60414	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	D;D	0.82619	-1.63;-1.63	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	L	0.46157	1.445	0.38128	D	0.938062	P	0.40476	0.718	B	0.35470	0.203	T	0.82673	-0.0341	10	0.62326	D	0.03	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	61	Q9Y2F9	BTBD3_HUMAN	N	61	ENSP00000384545:K61N;ENSP00000367471:K61N	ENSP00000367471:K61N	K	+	3	2	BTBD3	11847106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	AAG		0.448	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			18	139	1	0	2.35188e-11	1	2.6791e-11	18	139				
ZNF540	163255	broad.mit.edu	37	19	38104133	38104133	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:38104133A>G	ENST00000592533.1	+	5	2284	c.1952A>G	c.(1951-1953)tAt>tGt	p.Y651C	ZNF540_ENST00000316433.4_Missense_Mutation_p.Y651C|ZNF540_ENST00000343599.5_Missense_Mutation_p.Y651C|ZNF540_ENST00000589117.1_Missense_Mutation_p.Y619C	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	651					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACATCTTTATCAACATCAG	0.318																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1951-1953)tAt>tGt		zinc finger protein 540							27.0	30.0	29.0					19																	38104133		2190	4277	6467	SO:0001583	missense	163255							g.chr19:38104133A>G	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1952A>G	19.37:g.38104133A>G	ENSP00000466274:p.Tyr651Cys					ZNF540_ENST00000316433.4_Missense_Mutation_p.Y651C|ZNF540_ENST00000343599.5_Missense_Mutation_p.Y651C|ZNF540_ENST00000589117.1_Missense_Mutation_p.Y619C	p.Y651C	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2284	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1952A>G	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.728759	0.48833	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.54279	0.58	2.39	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.31926	0.97	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.29971	-0.9994	9	0.59425	D	0.04	.	3.1506	0.06486	0.5733:0.0:0.2381:0.1885	.	619;651	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	C	651;619	ENSP00000324598:Y651C	ENSP00000324598:Y651C	Y	+	2	0	ZNF540	42795973	0.000000	0.05858	0.001000	0.08648	0.925000	0.55904	-7.523000	0.00034	-0.189000	0.10482	0.254000	0.18369	TAT		0.318	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		6	30	0	0	0	1	0	6	30				
RNF130	55819	broad.mit.edu	37	5	179405210	179405210	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr5:179405210G>C	ENST00000261947.4	-	5	1239	c.841C>G	c.(841-843)Ccc>Gcc	p.P281A	RNF130_ENST00000522208.2_Missense_Mutation_p.P281A|RNF130_ENST00000521389.1_Missense_Mutation_p.P281A	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACTTGCAGGGGAGAATTCGG	0.413																																					GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(841-843)Ccc>Gcc		ring finger protein 130							128.0	113.0	118.0					5																	179405210		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179405210G>C	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.841C>G	5.37:g.179405210G>C	ENSP00000261947:p.Pro281Ala					RNF130_ENST00000521389.1_Missense_Mutation_p.P281A|RNF130_ENST00000261947.4_Missense_Mutation_p.P281A	p.P281A			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	859	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	281						Missense_Mutation	SNP	ENST00000261947.4	37	c.841C>G		.	.	.	.	.	.	.	.	.	.	G	17.78	3.474198	0.63737	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.72282	-0.64;-0.64;-0.64	5.78	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.82793	0.5114	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84939	0.0864	10	0.72032	D	0.01	.	14.5514	0.68070	0.071:0.0:0.929:0.0	.	298;281	Q59EL1;Q86XS8	.;GOLI_HUMAN	A	281	ENSP00000429509:P281A;ENSP00000430237:P281A;ENSP00000261947:P281A	ENSP00000261947:P281A	P	-	1	0	RNF130	179337816	1.000000	0.71417	0.917000	0.36280	0.498000	0.33706	8.680000	0.91225	1.575000	0.49775	0.655000	0.94253	CCC		0.413	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		13	53	0	0	0	1	0	13	53				
GLDN	342035	broad.mit.edu	37	15	51687166	51687166	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:51687166G>A	ENST00000335449.6	+	5	732	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	GLDN_ENST00000396399.2_Missense_Mutation_p.V102M	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	226					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCCAACGACGTGCTCCTGGC	0.587																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(676-678)Gtg>Atg		gliomedin							111.0	96.0	101.0					15																	51687166		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51687166G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.676G>A	15.37:g.51687166G>A	ENSP00000335196:p.Val226Met					GLDN_ENST00000396399.2_Missense_Mutation_p.V102M	p.V226M	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	5	732	+			226					Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.676G>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255027	0.59321	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.93426	-3.22;-3.22	4.81	3.87	0.44632	.	0.000000	0.37809	N	0.001930	D	0.92130	0.7505	M	0.62723	1.935	0.46749	D	0.999186	D	0.61697	0.99	P	0.48873	0.593	D	0.90850	0.4730	10	0.52906	T	0.07	.	7.7992	0.29164	0.0869:0.1661:0.7469:0.0	.	226	Q6ZMI3	GLDN_HUMAN	M	226;102;102	ENSP00000335196:V226M;ENSP00000379681:V102M	ENSP00000335196:V226M	V	+	1	0	GLDN	49474458	1.000000	0.71417	0.339000	0.25562	0.978000	0.69477	3.622000	0.54217	1.346000	0.45694	0.650000	0.86243	GTG		0.587	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		6	15	0	0	0	1	0	6	15				
OGG1	4968	broad.mit.edu	37	3	9792851	9792851	+	Silent	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr3:9792851C>T	ENST00000344629.7	+	2	703	c.360C>T	c.(358-360)ttC>ttT	p.F120F	OGG1_ENST00000383826.5_Silent_p.F120F|OGG1_ENST00000339511.5_Silent_p.F120F|OGG1_ENST00000349503.5_Silent_p.F120F|OGG1_ENST00000302036.7_Silent_p.F120F|OGG1_ENST00000449570.2_Silent_p.F120F|OGG1_ENST00000302008.8_Silent_p.F120F|OGG1_ENST00000302003.7_Silent_p.F120F			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	120					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACTCCCACTTCCAAGAGGTGG	0.547								Base excision repair (BER), DNA glycosylases																														ENST00000302036.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(358-360)ttC>ttT	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							58.0	52.0	54.0					3																	9792851		2203	4300	6503	SO:0001819	synonymous_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9792851C>T	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.360C>T	3.37:g.9792851C>T						OGG1_ENST00000349503.5_Silent_p.F120F|OGG1_ENST00000339511.5_Silent_p.F120F|OGG1_ENST00000302003.7_Silent_p.F120F|OGG1_ENST00000383826.5_Silent_p.F120F|OGG1_ENST00000449570.2_Silent_p.F120F|OGG1_ENST00000344629.7_Silent_p.F120F|OGG1_ENST00000302008.8_Silent_p.F120F	p.F120F	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN			2	703	+	Medulloblastoma(99;0.227)		120					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.360C>T	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.590510|1.590510	0.28357|0.28357	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000426518	.|.	.|.	.|.	5.54|5.54	2.74|2.74	0.32292|0.32292	.|.	.|.	.|.	.|.	.|.	T|T	0.58779|0.58779	0.2146|0.2146	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51482|0.51482	-0.8700|-0.8700	4|4	.|.	.|.	.|.	-24.0409|-24.0409	9.6538|9.6538	0.39914|0.39914	0.0:0.7724:0.0:0.2276|0.0:0.7724:0.0:0.2276	.|.	.|.	.|.	.|.	S|F	26|30	.|.	.|.	P|S	+|+	1|2	0|0	OGG1|OGG1	9767851|9767851	0.958000|0.958000	0.32768|0.32768	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	1.047000|1.047000	0.30367|0.30367	0.278000|0.278000	0.22164|0.22164	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.547	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		15	14	0	0	0	1	0	15	14				
SPG11	80208	broad.mit.edu	37	15	44878014	44878014	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:44878014C>A	ENST00000261866.7	-	29	4957	c.4941G>T	c.(4939-4941)caG>caT	p.Q1647H	SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1647					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTCAAAATCTGGCAAAGGA	0.358																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(4939-4941)caG>caT		spastic paraplegia 11 (autosomal recessive)							121.0	121.0	121.0					15																	44878014		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44878014C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4941G>T	15.37:g.44878014C>A	ENSP00000261866:p.Gln1647His					SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H	p.Q1647H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	29	4957	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1647					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4941G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.613722	0.28712	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78364	-1.17;-0.91;-0.91	5.5	-11.0	0.00169	.	0.441905	0.24220	N	0.040456	T	0.67822	0.2934	M	0.62723	1.935	0.28124	N	0.930474	B;B;B	0.21905	0.02;0.062;0.02	B;B;B	0.21708	0.036;0.035;0.036	T	0.44314	-0.9336	10	0.72032	D	0.01	.	14.8897	0.70600	0.0795:0.7439:0.0803:0.0964	.	1647;1647;1647	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	H	1647	ENSP00000261866:Q1647H;ENSP00000445278:Q1647H;ENSP00000396110:Q1647H	ENSP00000261866:Q1647H	Q	-	3	2	SPG11	42665306	0.000000	0.05858	0.065000	0.19835	0.686000	0.39977	-2.345000	0.01097	-2.231000	0.00718	-0.348000	0.07805	CAG		0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			26	69	1	0	1.17739e-12	1	1.36494e-12	26	69				
NEU2	4759	broad.mit.edu	37	2	233898940	233898940	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:233898940C>A	ENST00000233840.3	+	2	316	c.316C>A	c.(316-318)Cct>Act	p.P106T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	106					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CATTGCCATCCCTGGGCAAGT	0.647																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(316-318)Cct>Act		sialidase 2 (cytosolic sialidase)							102.0	80.0	88.0					2																	233898940		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233898940C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.316C>A	2.37:g.233898940C>A	ENSP00000233840:p.Pro106Thr						p.P106T	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	316	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	106					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.316C>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	5.924	0.354522	0.11239	.	.	ENSG00000115488	ENST00000233840	D	0.85013	-1.93	4.88	3.89	0.44902	Neuraminidase (2);	0.603304	0.15823	N	0.242912	D	0.84334	0.5449	M	0.80183	2.485	0.32070	N	0.594598	B	0.23937	0.094	B	0.30105	0.111	T	0.79850	-0.1629	10	0.22706	T	0.39	-7.8211	8.6084	0.33786	0.0:0.8105:0.0:0.1895	.	106	Q9Y3R4	NEUR2_HUMAN	T	106	ENSP00000233840:P106T	ENSP00000233840:P106T	P	+	1	0	NEU2	233607184	0.276000	0.24211	0.003000	0.11579	0.227000	0.25037	2.498000	0.45363	0.881000	0.35993	0.561000	0.74099	CCT		0.647	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		20	50	1	0	0.000132079	1	0.000138419	20	50				
CABS1	85438	broad.mit.edu	37	4	71201289	71201289	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:71201289C>T	ENST00000273936.5	+	1	607	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	178					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACGCTCCTGCCTTTCCACGT	0.468																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(532-534)gCc>gTc		calcium-binding protein, spermatid-specific 1							55.0	59.0	58.0					4																	71201289		2200	4297	6497	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201289C>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.533C>T	4.37:g.71201289C>T	ENSP00000273936:p.Ala178Val						p.A178V	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	592	+			178					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.533C>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	3.279	-0.147370	0.06627	.	.	ENSG00000145309	ENST00000273936	T	0.22134	1.97	4.57	-9.14	0.00701	.	2.157550	0.02203	N	0.062499	T	0.06917	0.0176	N	0.12182	0.205	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33343	-0.9872	10	0.05959	T	0.93	-18.4785	0.6163	0.00770	0.2963:0.1251:0.196:0.3825	.	178	Q96KC9	CABS1_HUMAN	V	178	ENSP00000273936:A178V	ENSP00000273936:A178V	A	+	2	0	CABS1	71235878	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.676000	0.00840	-2.159000	0.00787	0.655000	0.94253	GCC		0.468	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		9	33	0	0	0	1	0	9	33				
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs11260921	byFrequency	TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:17084510G>A	ENST00000455405.2	-	0	379							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577																																						ENST00000455405.2																			4	Substitution - coding silent(4)	p.L525L(2)|p.L530L(2)	endometrium(2)|kidney(2)																																																11223							g.chr1:17084510G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084510G>A														0	379	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	30	0	0	0	1	0	3	30				
CTGF	1490	broad.mit.edu	37	6	132270603	132270603	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:132270603C>A	ENST00000367976.3	-	5	1051	c.851G>T	c.(850-852)tGt>tTt	p.C284F	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	284	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACATACTCCACAGAATTTAGC	0.527																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(850-852)tGt>tTt		connective tissue growth factor							238.0	234.0	235.0					6																	132270603		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270603C>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.851G>T	6.37:g.132270603C>A	ENSP00000356954:p.Cys284Phe						p.C284F	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1051	-	Breast(56;0.0602)		284			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.851G>T	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870459	0.51588	.	.	ENSG00000118523	ENST00000367976	D	0.98280	-4.84	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99552	1.0966	10	0.72032	D	0.01	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	284	P29279	CTGF_HUMAN	F	284	ENSP00000356954:C284F	ENSP00000356954:C284F	C	-	2	0	CTGF	132312296	1.000000	0.71417	0.967000	0.41034	0.218000	0.24690	7.776000	0.85560	2.773000	0.95371	0.585000	0.79938	TGT		0.527	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		61	183	1	0	1.08141e-31	1	1.29967e-31	61	183				
FCN3	8547	broad.mit.edu	37	1	27695795	27695795	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:27695795C>T	ENST00000270879.4	-	8	837	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	MAP3K6_ENST00000357582.2_5'Flank|FCN3_ENST00000354982.2_Missense_Mutation_p.G267S|MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000374040.3_5'Flank	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	278	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCAATGCCATATTTGTGG	0.577																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(832-834)Ggc>Agc		ficolin (collagen/fibrinogen domain containing) 3							125.0	110.0	115.0					1																	27695795		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27695795C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.832G>A	1.37:g.27695795C>T	ENSP00000270879:p.Gly278Ser					FCN3_ENST00000354982.2_Missense_Mutation_p.G267S	p.G278S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	8	837	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	278			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.832G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958088	0.92726	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	D;D	0.88124	-2.34;-2.34	4.8	3.89	0.44902	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000016	D	0.91136	0.7209	M	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.79108	0.992;0.985	D	0.91240	0.5021	10	0.87932	D	0	.	10.6077	0.45404	0.0:0.9067:0.0:0.0933	.	267;278	Q6UXM4;O75636	.;FCN3_HUMAN	S	278;267	ENSP00000270879:G278S;ENSP00000347077:G267S	ENSP00000270879:G278S	G	-	1	0	FCN3	27568382	0.057000	0.20700	0.321000	0.25320	0.620000	0.37586	0.700000	0.25601	1.248000	0.43934	0.561000	0.74099	GGC		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			18	75	0	0	0	1	0	18	75				
FLNC	2318	broad.mit.edu	37	7	128485310	128485310	+	Splice_Site	SNP	G	G	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:128485310G>A	ENST00000325888.8	+	21	4051		c.e21+1		FLNC_ENST00000346177.6_Splice_Site	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma						cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGCCACACGGTGAGTGGACA	0.622																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.e21+1		filamin C, gamma							20.0	22.0	21.0					7																	128485310		2135	4236	6371	SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485310G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3790+1G>A	7.37:g.128485310G>A						FLNC_ENST00000346177.6_Splice_Site		NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	4051	+								B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Splice_Site	SNP	ENST00000325888.8	37		CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610052	0.87258	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5273	0.95212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNC	128272546	1.000000	0.71417	0.994000	0.49952	0.674000	0.39518	9.827000	0.99397	2.615000	0.88500	0.555000	0.69702	.		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Intron	3	17	0	0	0	1	0	3	17				
ALKBH2	121642	broad.mit.edu	37	12	109530356	109530356	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:109530356T>A	ENST00000429722.2	-	2	599	c.236A>T	c.(235-237)gAt>gTt	p.D79V	ALKBH2_ENST00000440112.2_Missense_Mutation_p.D79V|ALKBH2_ENST00000343075.3_Missense_Mutation_p.D79V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	79					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GAAAATCTCATCTGCCTCAGC	0.522								Direct reversal of damage																														ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(235-237)gAt>gTt	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						96.0	93.0	94.0					12																	109530356		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530356T>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.236A>T	12.37:g.109530356T>A	ENSP00000398181:p.Asp79Val					ALKBH2_ENST00000440112.2_Missense_Mutation_p.D79V|ALKBH2_ENST00000343075.3_Missense_Mutation_p.D79V	p.D79V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			2	599	-			79					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.236A>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695418	0.48202	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T;T;T	0.15139	2.81;2.81;2.45;2.45	5.89	4.75	0.60458	.	0.091056	0.64402	D	0.000001	T	0.45357	0.1338	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.959	T	0.49532	-0.8930	10	0.87932	D	0	-20.9579	10.6684	0.45745	0.0:0.0749:0.0:0.9251	.	79;79	A4PET2;Q6NS38	.;ALKB2_HUMAN	V	79	ENSP00000398181:D79V;ENSP00000343021:D79V;ENSP00000443042:D79V;ENSP00000444103:D79V	ENSP00000343021:D79V	D	-	2	0	ALKBH2	108014739	1.000000	0.71417	0.031000	0.17742	0.013000	0.08279	4.989000	0.63870	1.062000	0.40625	0.533000	0.62120	GAT		0.522	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		29	48	0	0	0	1	0	29	48				
MROH5	389690	broad.mit.edu	37	8	142481168	142481168	+	RNA	SNP	T	T	A			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:142481168T>A	ENST00000430863.1	-	0	2073					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TTGTGGCACATCAAGAGCTGG	0.597																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							137.0	146.0	143.0					8																	142481168		2092	4194	6286			389690							g.chr8:142481168T>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142481168T>A								NM_207414.2	NP_997297.2					0	2073	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.597	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		30	110	0	0	0	1	0	30	110				
KMT2E	55904	broad.mit.edu	37	7	104717551	104717551	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:104717551G>T	ENST00000311117.3	+	10	1455	c.910G>T	c.(910-912)Gct>Tct	p.A304S	KMT2E_ENST00000476671.1_Missense_Mutation_p.A304S|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304S|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.A304S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	304					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACAAAGAATAGCTCTGAGATT	0.388																																						ENST00000334877.4																			0											c.(910-912)Gct>Tct		lysine (K)-specific methyltransferase 2E							122.0	111.0	115.0					7																	104717551		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104717551G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.910G>T	7.37:g.104717551G>T	ENSP00000312379:p.Ala304Ser					KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.A304S|KMT2E_ENST00000311117.3_Missense_Mutation_p.A304S|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304S	p.A304S							10	1444	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.910G>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184648	0.57909	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95788	-2.91;-2.53;-2.91;-3.81;-3.27	6.07	6.07	0.98685	.	0.116849	0.64402	D	0.000011	D	0.95592	0.8567	L	0.44542	1.39	0.80722	D	1	D;P	0.67145	0.996;0.729	P;B	0.57620	0.824;0.269	D	0.92495	0.6003	10	0.10902	T	0.67	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	304;304	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	S	304;304;304;304;304;162;304;238	ENSP00000312379:A304S;ENSP00000335599:A304S;ENSP00000257745:A304S;ENSP00000419883:A162S;ENSP00000417888:A304S	ENSP00000257745:A304S	A	+	1	0	MLL5	104504787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.885000	0.99019	0.655000	0.94253	GCT		0.388	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			6	28	1	0	5.9392e-07	1	6.43004e-07	6	28				
CSRP2BP	57325	broad.mit.edu	37	20	18143347	18143347	+	Missense_Mutation	SNP	G	G	A	rs372711116		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:18143347G>A	ENST00000435364.3	+	6	1770	c.1429G>A	c.(1429-1431)Gct>Act	p.A477T	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A349T|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.A476T	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	477					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGGCTGGAAGCTTGTCCCGG	0.517																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1429-1431)Gct>Act		CSRP2 binding protein							72.0	66.0	68.0					20																	18143347		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143347G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1429G>A	20.37:g.18143347G>A	ENSP00000392318:p.Ala477Thr					CSRP2BP_ENST00000435364.2_Missense_Mutation_p.A477T|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A349T|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.A476T	p.A477T			Q9H8E8	CSR2B_HUMAN			7	2079	+			477					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1429G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946343	0.53079	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.14766	2.48;2.48;2.48;2.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.24368	-1.0162	10	0.26408	T	0.33	-17.7075	11.0573	0.47927	0.1365:0.0:0.8635:0.0	.	349;477	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	T	477;476;477;349	ENSP00000278816:A477T;ENSP00000366909:A476T;ENSP00000392318:A477T;ENSP00000425909:A349T	ENSP00000278816:A477T	A	+	1	0	CSRP2BP	18091347	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	6.100000	0.71473	2.941000	0.99782	0.655000	0.94253	GCT		0.517	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		21	60	0	0	0	1	0	21	60				
TRHDE	29953	broad.mit.edu	37	12	72680679	72680679	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:72680679C>G	ENST00000261180.4	+	2	1094	c.998C>G	c.(997-999)gCc>gGc	p.A333G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	333					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TATTATTTAGCCTGGGCAATT	0.398																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(997-999)gCc>gGc		thyrotropin-releasing hormone degrading enzyme							108.0	103.0	105.0					12																	72680679		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680679C>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.998C>G	12.37:g.72680679C>G	ENSP00000261180:p.Ala333Gly						p.A333G	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			2	1094	+			333					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.998C>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.236269|5.236269	0.95240|0.95240	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.09630|.	2.96|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83022|0.83022	0.5164|0.5164	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	P|.	0.46784|.	0.884|.	P|.	0.48815|.	0.591|.	T|T	0.82671|0.82671	-0.0342|-0.0342	10|5	0.66056|.	D|.	0.02|.	.|.	20.3539|20.3539	0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333|.	Q9UKU6|.	TRHDE_HUMAN|.	G|R	333|98	ENSP00000261180:A333G|.	ENSP00000261180:A333G|.	A|S	+|+	2|3	0|2	TRHDE|TRHDE	70966946|70966946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.398	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		20	56	0	0	0	1	0	20	56				
CPSF2	53981	broad.mit.edu	37	14	92609452	92609452	+	Silent	SNP	C	C	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:92609452C>G	ENST00000298875.4	+	9	1239	c.954C>G	c.(952-954)gcC>gcG	p.A318A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	318					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGACTTGGCCCGTGTACCTA	0.418																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(952-954)gcC>gcG		cleavage and polyadenylation specific factor 2, 100kDa							105.0	89.0	94.0					14																	92609452		2203	4300	6503	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92609452C>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.954C>G	14.37:g.92609452C>G							p.A318A	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	9	1239	+		all_cancers(154;0.0766)	318					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.954C>G	CCDS9902.1																																																																																				0.418	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			40	30	0	0	0	1	0	40	30				
SRCAP	10847	broad.mit.edu	37	16	30745264	30745264	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:30745264C>G	ENST00000262518.4	+	30	6929	c.6544C>G	c.(6544-6546)Cag>Gag	p.Q2182E	SRCAP_ENST00000344771.4_Missense_Mutation_p.Q2024E|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2120E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2182	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AAAGGCAAATCAGAAGAGAAT	0.463																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6544-6546)Cag>Gag		Snf2-related CREBBP activator protein							89.0	78.0	82.0					16																	30745264		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30745264C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6544C>G	16.37:g.30745264C>G	ENSP00000262518:p.Gln2182Glu					SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2120E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q2024E	p.Q2182E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		30	6929	+			2182			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6544C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710912	0.48517	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.95756	-3.8;-3.8;-3.8	5.36	5.36	0.76844	Helicase, C-terminal (1);	0.000000	0.46758	D	0.000264	D	0.95538	0.8550	N	0.17764	0.52	0.42809	D	0.993952	D;D	0.67145	0.996;0.994	D;D	0.76071	0.987;0.97	D	0.96073	0.9047	10	0.54805	T	0.06	-12.1711	18.0328	0.89290	0.0:1.0:0.0:0.0	.	2120;2182	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	E	2182;2120;2024	ENSP00000262518:Q2182E;ENSP00000378499:Q2120E;ENSP00000343042:Q2024E	ENSP00000262518:Q2182E	Q	+	1	0	SRCAP	30652765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.101000	0.50283	2.783000	0.95769	0.655000	0.94253	CAG		0.463	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		13	19	0	0	0	1	0	13	19				
BAG4	9530	broad.mit.edu	37	8	38050240	38050240	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:38050240A>G	ENST00000287322.4	+	2	576	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Intron	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	102					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				AATTCTAACTATTGGAATTCT	0.353																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(304-306)tAt>tGt		BCL2-associated athanogene 4							93.0	89.0	90.0					8																	38050240		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38050240A>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.305A>G	8.37:g.38050240A>G	ENSP00000287322:p.Tyr102Cys					BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Intron	p.Y102C	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			2	576	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	102					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.305A>G	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116561	0.56505	.	.	ENSG00000156735	ENST00000287322	D	0.90444	-2.67	5.02	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.67953	2.075	0.34993	D	0.755269	B	0.10296	0.003	B	0.10450	0.005	T	0.80197	-0.1482	10	0.39692	T	0.17	-4.9102	4.416	0.11455	0.7321:0.0:0.095:0.1729	.	102	O95429	BAG4_HUMAN	C	102	ENSP00000287322:Y102C	ENSP00000287322:Y102C	Y	+	2	0	BAG4	38169397	1.000000	0.71417	0.466000	0.27168	0.995000	0.86356	3.289000	0.51747	0.322000	0.23283	0.482000	0.46254	TAT		0.353	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		14	49	0	0	0	1	0	14	49				
CKS1B	1163	broad.mit.edu	37	1	154951209	154951210	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:154951209_154951210insT	ENST00000308987.5	+	3	243_244	c.196_197insT	c.(196-198)atcfs	p.I66fs	CKS1B_ENST00000471245.1_3'UTR|CKS1B_ENST00000368439.1_Frame_Shift_Ins_p.I50fs|MIR4258_ENST00000580920.1_RNA	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	66					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAACCTCACATCTTGCTGTTC	0.465																																						ENST00000368439.1																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(148-150)cttfs		CDC28 protein kinase regulatory subunit 1B																																				SO:0001589	frameshift_variant	1163				cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	g.chr1:154951209_154951210insT	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.197dupT	1.37:g.154951210_154951210dupT	ENSP00000311083:p.Ile66fs					CKS1B_ENST00000308987.5_Frame_Shift_Ins_p.L66fs|CKS1B_ENST00000471245.1_3'UTR	p.L50fs			P61024	CKS1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	397_398	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		66					P33551	Frame_Shift_Ins	INS	ENST00000308987.5	37	c.148_149insT	CCDS1077.1																																																																																				0.465	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826		8	21						8	21	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155735634	155735637	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:155735634_155735637delGCCA	ENST00000368331.1	-	21	3675_3678	c.3627_3630delTGGC	c.(3625-3630)tctggcfs	p.SG1209fs	GON4L_ENST00000437809.1_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000361040.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1209					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACAGAATTGCCAGAAACAATTA	0.49																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3625-3630)tcfs		gon-4-like (C. elegans)																																				SO:0001589	frameshift_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735634_155735637delGCCA	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3627_3630delTGGC	1.37:g.155735634_155735637delGCCA	ENSP00000357315:p.Ser1209fs					GON4L_ENST00000361040.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000368331.1_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000471341.1_5'UTR	p.SG1209fs			Q3T8J9	GON4L_HUMAN			21	3749_3752	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1209					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Del	DEL	ENST00000368331.1	37	c.3627_3630delTGGC																																																																																					0.490	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		9	60						9	60	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	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																																																			440926							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			3	5						3	5	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25222144	25222144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:25222144delT	ENST00000276440.7	+	30	3091	c.3047delT	c.(3046-3048)gttfs	p.V1016fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1016					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCCGCAGGGTTTTTCTCCGT	0.418																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3046-3048)gtfs		dedicator of cytokinesis 5							151.0	130.0	137.0					8																	25222144		2203	4300	6503	SO:0001589	frameshift_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25222144delT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3047delT	8.37:g.25222144delT	ENSP00000276440:p.Val1016fs						p.V1016fs	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	30	3091	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1016					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Del	DEL	ENST00000276440.7	37	c.3047delT	CCDS6047.1																																																																																				0.418	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		2	4						2	4	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	lincRNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174147delAACAAC																													12.37:g.13174148_13174153delAACAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.553	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			3	4						3	4	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87723649	87723649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:87723649delG	ENST00000284262.2	+	4	1925	c.1683delG	c.(1681-1683)tcgfs	p.S561fs	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	561					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCGAGGTTCGGGCCGCAAGC	0.741																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1681-1683)tcfs		junctophilin 3							3.0	5.0	5.0					16																	87723649		1987	3895	5882	SO:0001589	frameshift_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723649delG	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1683delG	16.37:g.87723649delG	ENSP00000284262:p.Ser561fs					JPH3_ENST00000563609.1_3'UTR	p.S561fs	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	1925	+			561					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Del	DEL	ENST00000284262.2	37	c.1683delG	CCDS10962.1																																																																																				0.741	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			2	4						2	4	---	---	---	---
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.46																																						ENST00000601562.1																			0																																																			102724105							g.chr19:52896073_52896074delTA																													19.37:g.52896083_52896084delTA														0	784	-									RNA	DEL	ENST00000601562.1	37																																																																																						0.460	CTD-3018O17.3-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000462867.1			2	4						2	4	---	---	---	---
