#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	rs189356842		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.0					uc001amp.1		NA																	0					0						c.(706-708)GCC>ACC		G protein-coupled receptor 153							77.0	79.0	79.0					1																	6313858		2201	4300	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313858C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.706G>A	1.37:g.6313858C>T	ENSP00000367125:p.Ala236Thr						p.A236T	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	966	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	236			Cytoplasmic (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.706G>A	CCDS64.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.87	2.067016	0.36470	.	.	ENSG00000158292	ENST00000377893	T	0.71934	-0.61	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.373744	0.28914	N	0.013730	T	0.56949	0.2020	N	0.19112	0.55	0.29397	N	0.86221	D	0.54772	0.968	P	0.47346	0.544	T	0.53753	-0.8394	10	0.28530	T	0.3	-50.623	9.4756	0.38869	0.0:0.8127:0.0:0.1873	.	236	Q6NV75	GP153_HUMAN	T	236	ENSP00000367125:A236T	ENSP00000367125:A236T	A	-	1	0	GPR153	6236445	0.042000	0.20092	0.950000	0.38849	0.814000	0.46013	0.331000	0.19733	2.277000	0.76020	0.462000	0.41574	GCC		0.677	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			3	61	0	0	0	0	3	61				
LHX9	56956	broad.mit.edu	37	1	197896796	197896796	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:197896796T>C	ENST00000367387.4	+	4	1234	c.809T>C	c.(808-810)aTg>aCg	p.M270T	LHX9_ENST00000561173.1_Missense_Mutation_p.M276T|LHX9_ENST00000337020.2_Missense_Mutation_p.M270T|LHX9_ENST00000367391.1_Missense_Mutation_p.M261T|LHX9_ENST00000367390.3_Missense_Mutation_p.M261T	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	270					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACCAAGCGCATGCGAACCTCT	0.522																																						uc001guk.1		NA																	0				ovary(1)	1						c.(808-810)ATG>ACG		LIM homeobox 9 isoform 1							252.0	246.0	248.0					1																	197896796		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896796T>C	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.809T>C	1.37:g.197896796T>C	ENSP00000356357:p.Met270Thr					LHX9_uc001gui.1_Missense_Mutation_p.M261T|LHX9_uc001guj.1_Missense_Mutation_p.M276T	p.M270T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			4	1246	+			270			Homeobox.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.809T>C	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421659	0.62622	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	N	0.04508	-0.205	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.988;0.988;0.999	D	0.94036	0.7305	10	0.28530	T	0.3	.	16.3015	0.82820	0.0:0.0:0.0:1.0	.	270;261;261	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	T	261;261;270;270	ENSP00000356361:M261T;ENSP00000356360:M261T;ENSP00000337969:M270T;ENSP00000356357:M270T	ENSP00000337969:M270T	M	+	2	0	LHX9	196163419	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	7.698000	0.84413	2.239000	0.73571	0.533000	0.62120	ATG		0.522	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		9	348	0	0	0	0	9	348				
CNTN2	6900	broad.mit.edu	37	1	205038678	205038678	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:205038678G>A	ENST00000331830.4	+	17	2469	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	729	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGCTCATCGTCAACTGGAC	0.612																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(2185-2187)GTC>ATC		contactin 2 precursor							68.0	71.0	70.0					1																	205038678		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205038678G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2185G>A	1.37:g.205038678G>A	ENSP00000330633:p.Val729Ile					CNTN2_uc001hbq.1_Missense_Mutation_p.V620I|CNTN2_uc001hbs.2_Missense_Mutation_p.V517I	p.V729I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		17	2454	+	all_cancers(21;0.144)|Breast(84;0.0437)		729			Fibronectin type-III 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2185G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	5.215	0.225249	0.09916	.	.	ENSG00000184144	ENST00000331830	T	0.56275	0.47	5.57	-0.219	0.13135	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.650998	0.13169	N	0.408477	T	0.13841	0.0335	N	0.00427	-1.505	0.25770	N	0.984847	B;B	0.11235	0.002;0.004	B;B	0.15052	0.012;0.012	T	0.35076	-0.9803	10	0.02654	T	1	.	7.0402	0.25015	0.7075:0.1513:0.1411:0.0	.	729;620	Q02246;Q68DA2	CNTN2_HUMAN;.	I	729	ENSP00000330633:V729I	ENSP00000330633:V729I	V	+	1	0	CNTN2	203305301	0.781000	0.28676	0.043000	0.18650	0.954000	0.61252	1.390000	0.34464	-0.243000	0.09653	0.563000	0.77884	GTC		0.612	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		3	34	0	0	0	0	3	34				
BMS1	9790	broad.mit.edu	37	10	43318580	43318580	+	Silent	SNP	T	T	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:43318580T>A	ENST00000374518.5	+	20	3210	c.3147T>A	c.(3145-3147)tcT>tcA	p.S1049S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1049					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTTAATTCTGCCTTGGAAG	0.403																																						uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3145-3147)TCT>TCA		BMS1-like, ribosome assembly protein							76.0	83.0	81.0					10																	43318580		2203	4297	6500	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318580T>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3147T>A	10.37:g.43318580T>A							p.S1049S	NM_014753	NP_055568	Q14692	BMS1_HUMAN			20	3505	+			1049					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.3147T>A	CCDS7199.1																																																																																				0.403	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	165	0	0	0	0	4	165				
SORCS1	114815	broad.mit.edu	37	10	108448071	108448071	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:108448071A>G	ENST00000263054.6	-	10	1446	c.1439T>C	c.(1438-1440)tTg>tCg	p.L480S	SORCS1_ENST00000369698.1_Missense_Mutation_p.L15S|SORCS1_ENST00000344440.6_Missense_Mutation_p.L480S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	480					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTGTTAGCCAAGAACATTCC	0.403																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1438-1440)TTG>TCG		SORCS receptor 1 isoform a							91.0	82.0	85.0					10																	108448071		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108448071A>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1439T>C	10.37:g.108448071A>G	ENSP00000263054:p.Leu480Ser					SORCS1_uc001kyl.2_Missense_Mutation_p.L480S|SORCS1_uc009xxs.2_Missense_Mutation_p.L480S|SORCS1_uc001kyn.1_Missense_Mutation_p.L480S|SORCS1_uc001kyo.2_Missense_Mutation_p.L480S	p.L480S	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1447	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	480			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1439T>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520220	0.85495	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.25085	1.82;1.82;1.82	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.61110	0.2321	M	0.91140	3.18	0.52099	D	0.999947	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.982;0.995;0.992;0.982;0.992	T	0.69591	-0.5104	9	.	.	.	-15.9483	16.8222	0.85835	1.0:0.0:0.0:0.0	.	480;480;480;480;480	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	S	15;480;480	ENSP00000358712:L15S;ENSP00000263054:L480S;ENSP00000345964:L480S	.	L	-	2	0	SORCS1	108438061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.855000	0.92236	2.371000	0.80710	0.533000	0.62120	TTG		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	96	0	0	0	0	3	96				
PTPRE	5791	broad.mit.edu	37	10	129877950	129877950	+	Silent	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:129877950G>A	ENST00000254667.3	+	20	2298	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	PTPRE_ENST00000419012.2_Silent_p.V673V|PTPRE_ENST00000306042.5_Silent_p.V615V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	673	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CACATATGGTGCAAACCCTGG	0.383																																					Colon(52;977 1184 20575 41685)	uc001lkb.2		NA																	0				ovary(1)	1						c.(2017-2019)GTG>GTA		protein tyrosine phosphatase, receptor type, E							86.0	86.0	86.0					10																	129877950		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877950G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.2019G>A	10.37:g.129877950G>A						PTPRE_uc009yat.2_Silent_p.V684V|PTPRE_uc009yau.2_Silent_p.V673V|PTPRE_uc001lkd.2_Silent_p.V615V|PTPRE_uc010quq.1_Intron	p.V673V	NM_006504	NP_006495	P23469	PTPRE_HUMAN			20	2298	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	673			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.2019G>A	CCDS7657.1																																																																																				0.383	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			27	100	0	0	0	0	27	100				
KCNA4	3739	broad.mit.edu	37	11	30032800	30032800	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:30032800G>A	ENST00000328224.6	-	2	2659	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	476					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCAGTTCCCGCATGCTGGCT	0.522																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1426-1428)CGG>TGG		potassium voltage-gated channel, shaker-related							55.0	58.0	57.0					11																	30032800		2094	4255	6349	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032800G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1426C>T	11.37:g.30032800G>A	ENSP00000328511:p.Arg476Trp						p.R476W	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2578	-			476						Missense_Mutation	SNP	ENST00000328224.6	37	c.1426C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588555	0.46110	.	.	ENSG00000182255	ENST00000328224	D	0.97480	-4.4	5.57	4.63	0.57726	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99044	1.0825	10	0.87932	D	0	.	12.6468	0.56740	0.0:0.0:0.5434:0.4566	.	476	P22459	KCNA4_HUMAN	W	476	ENSP00000328511:R476W	ENSP00000328511:R476W	R	-	1	2	KCNA4	29989376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.480000	0.35464	1.296000	0.44742	0.650000	0.86243	CGG		0.522	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	79	0	0	0	0	8	79				
OR4A5	81318	broad.mit.edu	37	11	51411725	51411725	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:51411725G>A	ENST00000319760.6	-	1	723	c.671C>T	c.(670-672)aCt>aTt	p.T224I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGACTGTAAGTTTTAAGGGA	0.413																																						uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(670-672)ACT>ATT		olfactory receptor, family 4, subfamily A,							61.0	61.0	61.0					11																	51411725		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411725G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.671C>T	11.37:g.51411725G>A	ENSP00000367664:p.Thr224Ile						p.T224I	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	671	-		all_lung(304;0.236)	224			Cytoplasmic (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.671C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	1.683	-0.505981	0.04261	.	.	ENSG00000221840	ENST00000319760	T	0.00016	9.11	1.93	-0.41	0.12374	GPCR, rhodopsin-like superfamily (1);	1.510970	0.04356	N	0.356655	T	0.00073	0.0002	N	0.02296	-0.605	0.09310	N	1	B	0.20887	0.049	B	0.37387	0.248	T	0.15607	-1.0431	10	0.72032	D	0.01	.	5.4316	0.16456	0.0:0.2209:0.5536:0.2255	.	224	Q8NH83	OR4A5_HUMAN	I	224	ENSP00000367664:T224I	ENSP00000367664:T224I	T	-	2	0	OR4A5	51268301	0.000000	0.05858	0.002000	0.10522	0.099000	0.18886	-1.550000	0.02180	-0.075000	0.12798	0.162000	0.16502	ACT		0.413	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		13	102	0	0	0	0	13	102				
SLC22A25	387601	broad.mit.edu	37	11	62997044	62997044	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:62997044G>C	ENST00000306494.6	-	1	80	c.81C>G	c.(79-81)ttC>ttG	p.F27L	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTATGACGTTGAACATTATAA	0.463																																						uc001nwr.1		NA																	0				ovary(3)|skin(1)	4						c.(79-81)TTC>TTG		putative UST1-like organic anion transporter							106.0	104.0	105.0					11																	62997044		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62997044G>C	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.81C>G	11.37:g.62997044G>C	ENSP00000307443:p.Phe27Leu					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.F27L	p.F27L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			1	81	-			27			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.81C>G	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	2.472	-0.321770	0.05386	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.33438	1.41	3.98	-3.5	0.04710	.	0.449050	0.24825	N	0.035282	T	0.10895	0.0266	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21381	-1.0247	10	0.12766	T	0.61	.	2.1121	0.03705	0.4416:0.1256:0.3055:0.1273	.	25;27	A4IF29;Q6T423	.;S22AP_HUMAN	L	27	ENSP00000307443:F27L	ENSP00000307443:F27L	F	-	3	2	SLC22A25	62753620	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.972000	0.03802	-0.683000	0.05190	0.472000	0.43445	TTC		0.463	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		5	123	0	0	0	0	5	123				
SC5D	6309	broad.mit.edu	37	11	121178029	121178029	+	Silent	SNP	T	T	C			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:121178029T>C	ENST00000392789.2	+	5	945	c.708T>C	c.(706-708)ttT>ttC	p.F236F	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000264027.4_Silent_p.F236F	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	236				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATATGTTCTTTGACTATAATT	0.413																																						uc001pxu.2		NA																	0				ovary(1)	1						c.(706-708)TTT>TTC		sterol-C5-desaturase							137.0	137.0	137.0					11																	121178029		2203	4299	6502	SO:0001819	synonymous_variant	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121178029T>C		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.708T>C	11.37:g.121178029T>C						SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Silent_p.F236F	p.F236F	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	5	856	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	236	PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970).				O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	c.708T>C	CCDS8435.1																																																																																				0.413	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		10	191	0	0	0	0	10	191				
KRT7	3855	broad.mit.edu	37	12	52639289	52639289	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr12:52639289G>A	ENST00000331817.5	+	7	1261	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	360	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCTGGAAGCCGCCCTGCAGCG	0.652																																						uc001saa.1		NA																	0					0						c.(1078-1080)GCC>ACC		keratin 7							44.0	45.0	45.0					12																	52639289		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639289G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1078G>A	12.37:g.52639289G>A	ENSP00000329243:p.Ala360Thr					KRT7_uc009zmf.1_Intron	p.A360T	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1205	+			360			Rod.|Coil 2.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.1078G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057687	0.76074	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.88896	-2.44	4.4	4.4	0.53042	Filament (1);	0.000000	0.37623	N	0.002020	D	0.95268	0.8465	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	D	0.96501	0.9371	10	0.87932	D	0	.	17.5702	0.87933	0.0:0.0:1.0:0.0	.	360	P08729	K2C7_HUMAN	T	360;336	ENSP00000329243:A360T	ENSP00000329243:A360T	A	+	1	0	KRT7	50925556	1.000000	0.71417	0.928000	0.36995	0.178000	0.23041	9.488000	0.97947	2.455000	0.83008	0.561000	0.74099	GCC		0.652	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		5	54	0	0	0	0	5	54				
HECTD1	25831	broad.mit.edu	37	14	31602803	31602803	+	Silent	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr14:31602803C>T	ENST00000399332.1	-	23	4145	c.3657G>A	c.(3655-3657)ggG>ggA	p.G1219G	HECTD1_ENST00000553700.1_Silent_p.G1219G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1219					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGCATTTTTCCCCATCTGTT	0.403																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(3655-3657)GGG>GGA		HECT domain containing 1							220.0	200.0	206.0					14																	31602803		1887	4112	5999	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602803C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3657G>A	14.37:g.31602803C>T						HECTD1_uc001wrd.1_Silent_p.G734G	p.G1219G	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	23	4146	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1219					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.3657G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098536	0.20552	.	.	ENSG00000092148	ENST00000557369	.	.	.	5.45	-1.93	0.07594	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42481	-0.9449	4	.	.	.	-7.3543	6.3813	0.21536	0.0:0.2165:0.153:0.6305	.	.	.	.	K	50	.	.	E	-	1	0	HECTD1	30672554	0.923000	0.31300	0.994000	0.49952	0.997000	0.91878	0.059000	0.14322	-0.222000	0.09958	0.650000	0.86243	GAA		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			27	101	0	0	0	0	27	101				
SAMD4A	23034	broad.mit.edu	37	14	55168922	55168922	+	Silent	SNP	T	T	C			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr14:55168922T>C	ENST00000554335.1	+	3	1002	c.339T>C	c.(337-339)atT>atC	p.I113I	SAMD4A_ENST00000392067.3_Silent_p.I113I|SAMD4A_ENST00000251091.5_Silent_p.I113I|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.I112I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	113					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTCACTCTATTGAACACAACC	0.483																																						uc001xbb.2		NA																	0					0						c.(334-336)ATT>ATC		sterile alpha motif domain containing 4 isoform							87.0	88.0	88.0					14																	55168922		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55168922T>C	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.339T>C	14.37:g.55168922T>C						SAMD4A_uc001xba.2_Silent_p.I112I|SAMD4A_uc001xbc.2_Silent_p.I112I|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Silent_p.I12I	p.I112I	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			2	337	+			113					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.336T>C	CCDS32084.2																																																																																				0.483	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		26	88	0	0	0	0	26	88				
TMEM202	338949	broad.mit.edu	37	15	72691006	72691006	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr15:72691006G>A	ENST00000341689.3	+	2	148	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	32						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TACCGTCCCTGCCAAGAAACA	0.532																																						uc002auq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(94-96)GCC>ACC		transmembrane protein 202							115.0	91.0	99.0					15																	72691006		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72691006G>A		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.94G>A	15.37:g.72691006G>A	ENSP00000340212:p.Ala32Thr					TMEM202_uc002aur.2_Intron	p.A32T	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			2	94	+			32						Missense_Mutation	SNP	ENST00000341689.3	37	c.94G>A	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960586	0.02267	.	.	ENSG00000187806	ENST00000341689	T	0.39229	1.09	4.07	0.558	0.17266	.	0.553031	0.16377	N	0.217060	T	0.12561	0.0305	N	0.02247	-0.625	0.22701	N	0.998839	B	0.06786	0.001	B	0.04013	0.001	T	0.33343	-0.9872	10	0.02654	T	1	-24.0971	5.7413	0.18096	0.6208:0.0:0.3792:0.0	.	32	A6NGA9	TM202_HUMAN	T	32	ENSP00000340212:A32T	ENSP00000340212:A32T	A	+	1	0	TMEM202	70478060	0.012000	0.17670	0.461000	0.27105	0.041000	0.13682	0.377000	0.20552	0.238000	0.21222	-0.302000	0.09304	GCC		0.532	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		17	65	0	0	0	0	17	65				
CACNA1H	8912	broad.mit.edu	37	16	1250512	1250512	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:1250512C>T	ENST00000348261.5	+	7	1308	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P354S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P354S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	354					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGACTCCAACCCCCACAACGG	0.652																																						uc002cks.2		NA																	0				breast(2)	2						c.(1060-1062)CCC>TCC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						58.0	64.0	62.0					16																	1250512		2135	4230	6365	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250512C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1060C>T	16.37:g.1250512C>T	ENSP00000334198:p.Pro354Ser					CACNA1H_uc002ckt.2_Missense_Mutation_p.P354S	p.P354S	NM_021098	NP_066921	O95180	CAC1H_HUMAN			7	1308	+		Hepatocellular(780;0.00369)	354			Extracellular (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.1060C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717126	0.89205	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98684	-5.07;-5.07	4.4	4.4	0.53042	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.95114	3.625	0.42572	D	0.993184	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98554	1.0638	10	0.87932	D	0	.	16.1439	0.81551	0.0:1.0:0.0:0.0	.	354;354	O95180-2;O95180	.;CAC1H_HUMAN	S	354	ENSP00000334198:P354S;ENSP00000351401:P354S	ENSP00000334198:P354S	P	+	1	0	CACNA1H	1190513	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	7.433000	0.80362	2.275000	0.75901	0.586000	0.80456	CCC		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		3	67	0	0	0	0	3	67				
ABCC11	85320	broad.mit.edu	37	16	48221269	48221269	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:48221269C>T	ENST00000394747.1	-	20	3125	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	ABCC11_ENST00000394748.1_Missense_Mutation_p.D926N|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.D926N|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.D926N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	926	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGTTCCAAGTCCCCTGCGAAG	0.527																																						uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2776-2778)GAC>AAC		ATP-binding cassette, sub-family C, member 11							62.0	54.0	57.0					16																	48221269		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221269C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2776G>A	16.37:g.48221269C>T	ENSP00000378230:p.Asp926Asn					ABCC11_uc002efg.1_Missense_Mutation_p.D926N|ABCC11_uc002efh.1_Missense_Mutation_p.D926N|ABCC11_uc010vgk.1_RNA|ABCC11_uc010cbg.1_RNA	p.D926N	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			20	3126	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	926			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2776G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301632	0.95601	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.02	0.724	0.18236	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.316206	0.31542	N	0.007477	D	0.97766	0.9267	M	0.89095	3.005	0.80722	D	1	P;D	0.89917	0.933;1.0	B;D	0.85130	0.33;0.997	D	0.94879	0.8037	10	0.87932	D	0	-6.7631	1.9759	0.03415	0.1603:0.5035:0.1556:0.1807	.	926;926	Q96J66-2;Q96J66	.;ABCCB_HUMAN	N	926	ENSP00000311326:D926N;ENSP00000349017:D926N;ENSP00000378231:D926N;ENSP00000378230:D926N	ENSP00000311326:D926N	D	-	1	0	ABCC11	46778770	0.649000	0.27322	0.000000	0.03702	0.857000	0.48899	1.835000	0.39181	-0.024000	0.13941	0.563000	0.77884	GAC		0.527	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		21	37	0	0	0	0	21	37				
VPS4A	27183	broad.mit.edu	37	16	69349972	69349972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:69349972C>T	ENST00000254950.11	+	2	239	c.83C>T	c.(82-84)gCg>gTg	p.A28V	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.A52V	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TACGAGGAGGCGCTGCGGCTG	0.577																																						uc002eww.2		NA																	0					0						c.(82-84)GCG>GTG		vacuolar protein sorting factor 4A							73.0	80.0	78.0					16																	69349972		2113	4238	6351	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69349972C>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.83C>T	16.37:g.69349972C>T	ENSP00000254950:p.Ala28Val						p.A28V	NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN			2	211	+		Ovarian(137;0.101)	28			Interaction with CHMP1B.|MIT.			Missense_Mutation	SNP	ENST00000254950.11	37	c.83C>T	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851210	0.97023	.	.	ENSG00000132612	ENST00000254950	D	0.94000	-3.33	5.86	5.86	0.93980	MIT (2);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-32.8745	18.958	0.92668	0.0:1.0:0.0:0.0	.	28	Q9UN37	VPS4A_HUMAN	V	28	ENSP00000254950:A28V	ENSP00000254950:A28V	A	+	2	0	VPS4A	67907473	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.814000	0.86154	2.775000	0.95449	0.655000	0.94253	GCG		0.577	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		4	115	0	0	0	0	4	115				
WWP2	11060	broad.mit.edu	37	16	69922039	69922039	+	Silent	SNP	C	C	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:69922039C>A	ENST00000359154.2	+	8	902	c.801C>A	c.(799-801)ccC>ccA	p.P267P	WWP2_ENST00000542271.1_Silent_p.P151P|WWP2_ENST00000356003.2_Silent_p.P267P|WWP2_ENST00000569174.1_Silent_p.P267P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.P267P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	267					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCGAATCCCAACACGACTT	0.617																																						uc002exu.1		NA																	0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(799-801)CCC>CCA		WW domain containing E3 ubiquitin protein ligase							116.0	100.0	105.0					16																	69922039		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69922039C>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.801C>A	16.37:g.69922039C>A						WWP2_uc002ext.2_Silent_p.P267P|WWP2_uc002exv.1_Silent_p.P267P|WWP2_uc010vlm.1_Silent_p.P151P	p.P267P	NM_007014	NP_008945	O00308	WWP2_HUMAN			9	890	+			267					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.801C>A	CCDS10885.1																																																																																				0.617	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		20	78	1	0	4.35e-09	4.86e-09	20	78				
CHST6	4166	broad.mit.edu	37	16	75512887	75512887	+	Silent	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:75512887C>T	ENST00000332272.4	-	3	1019	c.840G>A	c.(838-840)ccG>ccA	p.P280P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P280P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	280					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTTCTGCCAGCGGCTCCCGCG	0.662																																						uc002fef.2		NA																	0					0						c.(838-840)CCG>CCA		carbohydrate (N-acetylglucosamine 6-O)							40.0	41.0	41.0					16																	75512887		2197	4298	6495	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512887C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.840G>A	16.37:g.75512887C>T						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.P280P	p.P280P	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1020	-			280			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.840G>A	CCDS10918.1																																																																																				0.662	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		15	49	0	0	0	0	15	49				
SLC13A5	284111	broad.mit.edu	37	17	6606290	6606290	+	Splice_Site	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:6606290C>T	ENST00000433363.2	-	5	948	c.715G>A	c.(715-717)Gag>Aag	p.E239K	SLC13A5_ENST00000573648.1_Splice_Site_p.E239K|SLC13A5_ENST00000381074.4_Splice_Site_p.E196K|SLC13A5_ENST00000293800.6_Splice_Site_p.E222K	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	239					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGGACTCACTCGTTCATCTGG	0.647																																						uc002gdj.2		NA																	0					0						c.(715-717)GAG>AAG		solute carrier family 13, member 5 isoform a							99.0	85.0	89.0					17																	6606290		2203	4300	6503	SO:0001630	splice_region_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606290C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.716+1G>A	17.37:g.6606290C>T						SLC13A5_uc010vtf.1_Missense_Mutation_p.E239K|SLC13A5_uc010clq.2_Missense_Mutation_p.E196K|SLC13A5_uc002gdk.2_Missense_Mutation_p.E222K|SLC13A5_uc002gdl.1_Missense_Mutation_p.E221K	p.E239K	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			5	803	-			239					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.715G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814005	0.50527	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.02498	4.27;4.27	5.43	3.32	0.38043	.	0.221539	0.49916	D	0.000138	T	0.02494	0.0076	L	0.37507	1.11	0.38138	D	0.938373	B;B;B;B;B	0.31611	0.112;0.331;0.111;0.112;0.112	B;B;B;B;B	0.26416	0.041;0.065;0.069;0.041;0.064	T	0.51426	-0.8707	10	0.38643	T	0.18	.	8.0559	0.30604	0.1619:0.7517:0.0:0.0865	.	239;196;196;222;239	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	K	239;239;196	ENSP00000406220:E239K;ENSP00000370464:E196K	ENSP00000293800:E239K	E	-	1	0	SLC13A5	6547014	0.626000	0.27120	0.983000	0.44433	0.535000	0.34838	0.963000	0.29293	2.742000	0.94016	0.556000	0.70494	GAG		0.647	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	Missense_Mutation	22	95	0	0	0	0	22	95				
DLX3	1747	broad.mit.edu	37	17	48070809	48070809	+	Silent	SNP	G	G	A	rs374399473		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:48070809G>A	ENST00000434704.2	-	2	696	c.471C>T	c.(469-471)ccC>ccT	p.P157P	DLX3_ENST00000512495.2_Silent_p.P37P	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	157					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CGGCGCGCTCGGGCAGCGCCA	0.706																																						uc002ipy.2		NA																	0					0						c.(469-471)CCC>CCT		distal-less homeobox 3		G		0,4402		0,0,2201	29.0	29.0	29.0		471	0.3	1.0	17		29	1,8597		0,1,4298	no	coding-synonymous	DLX3	NM_005220.2		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		157/288	48070809	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48070809G>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.471C>T	17.37:g.48070809G>A							p.P157P	NM_005220	NP_005211	O60479	DLX3_HUMAN			2	697	-			157			Homeobox.		B3KQL6	Silent	SNP	ENST00000434704.2	37	c.471C>T	CCDS11556.1																																																																																				0.706	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			7	22	0	0	0	0	7	22				
GRIN2C	2905	broad.mit.edu	37	17	72840467	72840467	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:72840467C>T	ENST00000293190.5	-	12	2677	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R844H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	844					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCGAGTGGCGCAGCTTCCA	0.617																																						uc002jlt.1		NA																	0				ovary(2)|breast(2)	4						c.(2530-2532)CGC>CAC		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						79.0	75.0	76.0					17																	72840467		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840467C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2531G>A	17.37:g.72840467C>T	ENSP00000293190:p.Arg844His					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R844H	p.R844H	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			12	2687	-	all_lung(278;0.172)|Lung NSC(278;0.207)		844			Cytoplasmic (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2531G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221754	0.58560	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.50001	0.76	4.79	4.79	0.61399	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.82716	2.605	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77702	-0.2489	10	0.87932	D	0	.	17.807	0.88604	0.0:1.0:0.0:0.0	.	878;844	Q8IW23;Q14957	.;NMDE3_HUMAN	H	844;878	ENSP00000293190:R844H	ENSP00000293190:R844H	R	-	2	0	GRIN2C	70352062	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.766000	0.85320	2.360000	0.80028	0.561000	0.74099	CGC		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	110	0	0	0	0	4	110				
SGSH	6448	broad.mit.edu	37	17	78195395	78195395	+	5'Flank	SNP	G	G	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:78195395G>T	ENST00000326317.6	-	0	0				SLC26A11_ENST00000361193.3_Missense_Mutation_p.R12S|SLC26A11_ENST00000411502.3_Missense_Mutation_p.R12S|SGSH_ENST00000534910.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R12S|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000572725.1_Missense_Mutation_p.R12S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCAGGCCAGGTCCTCTGGCC	0.687																																						uc002jyb.1		NA																	0					0						c.(34-36)AGG>AGT		solute carrier family 26, member 11							17.0	18.0	18.0					17																	78195395		2201	4296	6497	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78195395G>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78195395G>T	Exception_encountered					SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.R12S|SLC26A11_uc002jyd.1_Missense_Mutation_p.R12S|SLC26A11_uc010dhv.1_Missense_Mutation_p.R12S	p.R12S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		3	305	+	all_neural(118;0.0538)		12			Extracellular (Potential).		A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.36G>T	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	11.78	1.740566	0.30865	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92858	-3.12;-3.12;-3.12	3.98	1.8	0.24995	.	0.764094	0.10613	N	0.654237	T	0.81494	0.4834	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.70622	-0.4821	10	0.40728	T	0.16	-5.2649	7.0868	0.25261	0.257:0.0:0.743:0.0	.	12	Q86WA9	S2611_HUMAN	S	12	ENSP00000403998:R12S;ENSP00000440724:R12S;ENSP00000355384:R12S	ENSP00000355384:R12S	R	+	3	2	SLC26A11	75809990	0.003000	0.15002	0.006000	0.13384	0.056000	0.15407	0.911000	0.28584	0.868000	0.35678	0.486000	0.48141	AGG		0.687	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		7	19	1	0	0.00621372	0.00671753	7	19				
MTCL1	23255	broad.mit.edu	37	18	8825333	8825333	+	Silent	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr18:8825333G>A	ENST00000306329.11	+	13	4782	c.4782G>A	c.(4780-4782)gaG>gaA	p.E1594E	SOGA2_ENST00000359865.3_Silent_p.E1275E|SOGA2_ENST00000306285.7_Silent_p.E600E|SOGA2_ENST00000518815.1_Silent_p.E600E|SOGA2_ENST00000517570.1_Silent_p.E1234E|SOGA2_ENST00000400050.3_Silent_p.E1234E																							ACAGCCTGGAGATGTCCAAGA	0.617																																						uc002knr.2		NA																	0					0						c.(3823-3825)GAG>GAA		hypothetical protein LOC23255							54.0	49.0	51.0					18																	8825333		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8825333G>A																												ENST00000306329.11:c.4782G>A	18.37:g.8825333G>A						KIAA0802_uc002knq.2_Silent_p.E1234E|KIAA0802_uc002kns.2_Silent_p.E615E	p.E1275E	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3967	+			1585						Silent	SNP	ENST00000306329.11	37	c.3825G>A																																																																																					0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			20	51	0	0	0	0	20	51				
PNPLA6	10908	broad.mit.edu	37	19	7605584	7605584	+	Silent	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:7605584G>A	ENST00000221249.6	+	9	1097	c.666G>A	c.(664-666)ctG>ctA	p.L222L	PNPLA6_ENST00000414982.3_Silent_p.L270L|PNPLA6_ENST00000600737.1_Silent_p.L261L|PNPLA6_ENST00000545201.2_Silent_p.L222L|PNPLA6_ENST00000450331.3_Silent_p.L222L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	261					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCAGCATCCTGGATGTCATCA	0.587																																						uc010xjq.1		NA																	0				ovary(3)	3						c.(808-810)CTG>CTA		neuropathy target esterase isoform b							207.0	158.0	175.0					19																	7605584		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7605584G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.666G>A	19.37:g.7605584G>A						PNPLA6_uc002mgq.1_Silent_p.L222L|PNPLA6_uc010xjp.1_Silent_p.L222L|PNPLA6_uc002mgr.1_Silent_p.L222L|PNPLA6_uc002mgs.2_Silent_p.L261L	p.L270L	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			8	1005	+			261			cNMP 1.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.810G>A	CCDS32891.1																																																																																				0.587	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		5	127	0	0	0	0	5	127				
ILF3	3609	broad.mit.edu	37	19	10793296	10793296	+	Silent	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:10793296G>A	ENST00000590261.1	+	12	1464	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	ILF3_ENST00000588657.1_Silent_p.A488A|ILF3_ENST00000318511.3_Silent_p.A488A|ILF3_ENST00000420083.1_Silent_p.A488A|ILF3_ENST00000592763.1_Silent_p.A488A|ILF3_ENST00000250241.8_Silent_p.A488A|ILF3_ENST00000449870.1_Silent_p.A488A|ILF3_ENST00000589998.1_Silent_p.A488A|ILF3_ENST00000407004.3_Silent_p.A488A			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	488					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGACCGAGGCGAAGCCAGCAG	0.642																																						uc002mpn.2		NA																	0				ovary(3)	3						c.(1462-1464)GCG>GCA		interleukin enhancer binding factor 3 isoform a							52.0	46.0	48.0					19																	10793296		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10793296G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1464G>A	19.37:g.10793296G>A						ILF3_uc002mpm.2_Silent_p.A488A|ILF3_uc002mpl.2_Silent_p.A488A|ILF3_uc002mpk.2_Silent_p.A488A|ILF3_uc010xli.1_Silent_p.A86A|ILF3_uc002mpo.2_Silent_p.A488A|ILF3_uc002mpp.2_Silent_p.A309A	p.A488A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1781	+			488					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1464G>A	CCDS12246.1																																																																																				0.642	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			6	51	0	0	0	0	6	51				
QTRT1	81890	broad.mit.edu	37	19	10823854	10823854	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:10823854C>T	ENST00000250237.5	+	10	1130	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	374					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGACTTCGTGCGGGACTTCAT	0.657																																						uc002mpr.2		NA																	0				skin(1)	1						c.(1120-1122)CGG>TGG		queuine tRNA-ribosyltransferase 1							75.0	73.0	73.0					19																	10823854		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823854C>T	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1120C>T	19.37:g.10823854C>T	ENSP00000250237:p.Arg374Trp					DNM2_uc010dxk.2_RNA	p.R374W	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		10	1145	+			374					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.1120C>T	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122733	0.37436	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.34	2.11	0.27256	.	0.437664	0.20382	U	0.093437	T	0.63698	0.2533	M	0.89287	3.02	0.09310	N	1	D	0.61080	0.989	P	0.53185	0.72	T	0.60742	-0.7203	9	0.87932	D	0	0.0269	11.7827	0.52023	0.3146:0.6853:0.0:0.0	.	374	Q9BXR0	TGT_HUMAN	W	374	.	ENSP00000250237:R374W	R	+	1	2	QTRT1	10684854	0.001000	0.12720	0.065000	0.19835	0.154000	0.21943	1.053000	0.30442	0.262000	0.21774	0.585000	0.79938	CGG		0.657	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		20	97	0	0	0	0	20	97				
CACNA1A	773	broad.mit.edu	37	19	13368242	13368242	+	Silent	SNP	G	G	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:13368242G>T	ENST00000360228.5	-	28	4511	c.4512C>A	c.(4510-4512)atC>atA	p.I1504I	CACNA1A_ENST00000573710.2_Silent_p.I1505I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1505					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCCACAAAGATATTGACAA	0.502																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(4513-4515)ATC>ATA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						124.0	116.0	118.0					19																	13368242		1933	4142	6075	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13368242G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4512C>A	19.37:g.13368242G>T						CACNA1A_uc010xnd.1_Silent_p.I210I|CACNA1A_uc002mwx.3_Silent_p.I210I|CACNA1A_uc010dzc.2_Silent_p.I1030I|CACNA1A_uc002mwy.3_Silent_p.I1504I|CACNA1A_uc010xne.1_Silent_p.I1033I|CACNA1A_uc002mwv.3_Silent_p.I21I	p.I1505I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		28	4751	-			1505			III.|Helical; Name=S6 of repeat III; (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4515C>A	CCDS45998.1																																																																																				0.502	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		14	31	1	0	2.62e-11	2.96e-11	14	31				
ZNF569	148266	broad.mit.edu	37	19	37904081	37904081	+	Silent	SNP	G	G	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:37904081G>T	ENST00000316950.6	-	6	2036	c.1479C>A	c.(1477-1479)ccC>ccA	p.P493P	ZNF569_ENST00000392150.2_Silent_p.P334P|ZNF569_ENST00000392149.2_Silent_p.P493P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	493					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATTCATAGGGTTTCTCTC	0.353																																						uc002ogi.2		NA																	0				breast(2)|skin(1)	3						c.(1477-1479)CCC>CCA		zinc finger protein 569							49.0	48.0	49.0					19																	37904081		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904081G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1479C>A	19.37:g.37904081G>T						ZNF569_uc002ogh.2_Silent_p.P334P|ZNF569_uc002ogj.2_Silent_p.P517P	p.P493P	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2037	-			493					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.1479C>A	CCDS12503.1																																																																																				0.353	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		31	92	1	0	2.66e-16	3.04e-16	31	92				
GYS1	2997	broad.mit.edu	37	19	49494659	49494659	+	Missense_Mutation	SNP	G	G	A	rs376369611		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:49494659G>A	ENST00000323798.3	-	2	396	c.200C>T	c.(199-201)cCg>cTg	p.P67L	RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000263276.6_Missense_Mutation_p.P67L|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Intron|RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000541188.1_Intron|RUVBL2_ENST00000595090.1_5'Flank|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	67					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCGTGTACGGCCCCACCAG	0.637																																						uc002plp.2		NA																	0				ovary(2)	2						c.(199-201)CCG>CTG		glycogen synthase 1 (muscle) isoform 1		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	130.0	141.0	137.0		200,200	5.2	1.0	19		137	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	67/674,67/738	49494659	1,13005	2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49494659G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.200C>T	19.37:g.49494659G>A	ENSP00000317904:p.Pro67Leu					GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.P67L|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	p.P67L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	2	441	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	67					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.200C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209562	0.95069	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000457974	T;T	0.78126	-0.89;-1.15	5.15	5.15	0.70609	.	0.105103	0.64402	N	0.000003	D	0.89777	0.6813	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.908	D	0.91442	0.5174	10	0.72032	D	0.01	-22.8202	16.4927	0.84206	0.0:0.0:1.0:0.0	.	67;67	Q9BTT9;P13807	.;GYS1_HUMAN	L	67;67;66	ENSP00000317904:P67L;ENSP00000263276:P67L	ENSP00000263276:P67L	P	-	2	0	GYS1	54186471	1.000000	0.71417	0.969000	0.41365	0.953000	0.61014	9.176000	0.94839	2.570000	0.86706	0.591000	0.81541	CCG		0.637	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		6	291	0	0	0	0	6	291				
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						uc002qqo.2		NA																	2	Substitution - Missense(2)		prostate(2)		0						c.(1009-1011)GCT>GTT		zinc finger protein 814							58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385748G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.A337V	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1282	-			337			C2H2-type 5.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1010C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	11	0	0	0	0	3	11				
EMX1	2016	broad.mit.edu	37	2	73161022	73161022	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr2:73161022G>T	ENST00000258106.6	+	3	1190	c.812G>T	c.(811-813)cGg>cTg	p.R271L	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	238					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						CACATCAACCGGTGGCGCATT	0.577																																						uc002sin.1		NA																	0					0						c.(811-813)CGG>CTG		empty spiracles homolog 1							71.0	82.0	78.0					2																	73161022		2135	4246	6381	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73161022G>T	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.812G>T	2.37:g.73161022G>T	ENSP00000258106:p.Arg271Leu					EMX1_uc002sim.1_3'UTR	p.R271L	NM_004097	NP_004088	Q04741	EMX1_HUMAN			3	1190	+			238					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.812G>T	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911037	0.92178	.	.	ENSG00000135638	ENST00000258106	D	0.92299	-3.01	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	D	0.93015	0.7777	M	0.78049	2.395	0.80722	D	1	D	0.58268	0.982	P	0.46479	0.518	D	0.94018	0.7290	10	0.66056	D	0.02	-22.4872	16.7711	0.85537	0.0:0.0:1.0:0.0	.	238	Q04741	EMX1_HUMAN	L	271	ENSP00000258106:R271L	ENSP00000258106:R271L	R	+	2	0	EMX1	73014530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.635000	0.89317	0.484000	0.47621	CGG		0.577	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			3	84	1	0	0.004672	0.00507826	3	84				
SNRNP200	23020	broad.mit.edu	37	2	96970571	96970571	+	Silent	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr2:96970571G>A	ENST00000323853.5	-	2	158	c.81C>T	c.(79-81)ctC>ctT	p.L27L	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Silent_p.L27L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	27					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCGGTCAATGAGAGAACGGT	0.507																																						uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(79-81)CTC>CTT		activating signal cointegrator 1 complex subunit							65.0	60.0	62.0					2																	96970571		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970571G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.81C>T	2.37:g.96970571G>A							p.L27L	NM_014014	NP_054733	O75643	U520_HUMAN			2	167	-			27					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.81C>T	CCDS2020.1																																																																																				0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		22	45	0	0	0	0	22	45				
NCOA6	23054	broad.mit.edu	37	20	33345055	33345055	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:33345055T>C	ENST00000374796.2	-	8	4066	c.1496A>G	c.(1495-1497)cAg>cGg	p.Q499R	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q499R			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	499	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTGGCCCCTGGTTTGGTGG	0.488																																						uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1495-1497)CAG>CGG		nuclear receptor coactivator 6							183.0	163.0	170.0					20																	33345055		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345055T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1496A>G	20.37:g.33345055T>C	ENSP00000363929:p.Gln499Arg					NCOA6_uc002xaw.2_Missense_Mutation_p.Q499R|NCOA6_uc010gew.1_Missense_Mutation_p.Q456R	p.Q499R	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	4067	-			499			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1496A>G	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262807	0.59431	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37235	1.21;1.21	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000004	T	0.28532	0.0706	L	0.32530	0.975	0.49915	D	0.999837	B;B	0.30824	0.089;0.296	B;B	0.22753	0.023;0.041	T	0.03898	-1.0994	10	0.31617	T	0.26	-2.9148	16.2898	0.82742	0.0:0.0:0.0:1.0	.	499;499	F6M2K2;Q14686	.;NCOA6_HUMAN	R	499	ENSP00000363929:Q499R;ENSP00000351894:Q499R	ENSP00000351894:Q499R	Q	-	2	0	NCOA6	32808716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.837000	0.55820	2.250000	0.74265	0.482000	0.46254	CAG		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	273	0	0	0	0	6	273				
KCNB1	3745	broad.mit.edu	37	20	48098552	48098552	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:48098552G>A	ENST00000371741.4	-	1	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	156					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCCCGCTCCCGTAGGGTCTCG	0.582																																						uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(466-468)CGG>TGG		potassium voltage-gated channel, Shab-related							170.0	138.0	148.0					20																	48098552		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098552G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.466C>T	20.37:g.48098552G>A	ENSP00000360806:p.Arg156Trp					KCNB1_uc002xus.1_Missense_Mutation_p.R156W	p.R156W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	630	-			156			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.466C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177032	0.38413	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96554	-4.05	5.15	3.17	0.36434	.	0.132166	0.46758	D	0.000280	D	0.97845	0.9292	M	0.85542	2.76	0.32967	D	0.521814	D	0.89917	1.0	D	0.67548	0.952	D	0.99908	1.1188	10	0.87932	D	0	.	13.7034	0.62622	0.0:0.0:0.6011:0.3989	.	156	Q14721	KCNB1_HUMAN	W	156;111	ENSP00000360806:R156W	ENSP00000360806:R156W	R	-	1	2	KCNB1	47531959	0.998000	0.40836	0.009000	0.14445	0.619000	0.37552	1.309000	0.33539	0.726000	0.32339	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		46	117	0	0	0	0	46	117				
ZGPAT	84619	broad.mit.edu	37	20	62340307	62340307	+	Silent	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:62340307C>T	ENST00000328969.5	+	2	502	c.375C>T	c.(373-375)gaC>gaT	p.D125D	ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.D125D|ZGPAT_ENST00000355969.6_Silent_p.D125D|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000448100.2_Silent_p.D125D|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T31M|ZGPAT_ENST00000369967.3_Silent_p.D125D	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	125	Poly-Glu.				negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					agggagaggacgaggaagagC	0.637																																						uc002ygk.2		NA																	0					0						c.(373-375)GAC>GAT		zinc finger, CCCH-type with G patch domain							54.0	50.0	51.0					20																	62340307		2203	4300	6503	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340307C>T	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.375C>T	20.37:g.62340307C>T						ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.D125D|ZGPAT_uc002ygj.2_Silent_p.D125D|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.D125D|ZGPAT_uc002ygm.2_Silent_p.D125D|ZGPAT_uc002ygn.3_RNA	p.D125D	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	553	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		125			Poly-Glu.		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.375C>T	CCDS13534.1																																																																																				0.637	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		5	70	0	0	0	0	5	70				
ABCG1	9619	broad.mit.edu	37	21	43708124	43708124	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr21:43708124C>G	ENST00000361802.2	+	9	1244	c.1099C>G	c.(1099-1101)Ctt>Gtt	p.L367V	ABCG1_ENST00000398457.2_Missense_Mutation_p.L369V|ABCG1_ENST00000398437.1_Missense_Mutation_p.L513V|ABCG1_ENST00000398449.3_Missense_Mutation_p.L367V|ABCG1_ENST00000340588.4_Missense_Mutation_p.L475V|ABCG1_ENST00000347800.2_Missense_Mutation_p.L364V|ABCG1_ENST00000343687.3_Missense_Mutation_p.L378V|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	367					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAACCCTTTTCTTTGGCACCG	0.567																																						uc002zaq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1099-1101)CTT>GTT		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						143.0	146.0	145.0					21																	43708124		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708124C>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1099C>G	21.37:g.43708124C>G	ENSP00000354995:p.Leu367Val					ABCG1_uc002zan.2_Missense_Mutation_p.L369V|ABCG1_uc002zam.2_Missense_Mutation_p.L345V|ABCG1_uc002zao.2_Missense_Mutation_p.L364V|ABCG1_uc002zap.2_Missense_Mutation_p.L367V|ABCG1_uc002zar.2_Missense_Mutation_p.L378V|ABCG1_uc011aev.1_Missense_Mutation_p.L378V|ABCG1_uc010gpb.1_5'UTR	p.L367V	NM_004915	NP_004906	P45844	ABCG1_HUMAN			9	1205	+			367			Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1099C>G	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.703724|1.703724	0.30232|0.30232	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;D;T;D;D|.	0.86769|.	1.06;1.06;1.06;-2.01;1.06;-2.17;-2.15|.	4.64|4.64	3.74|3.74	0.42951|0.42951	.|.	0.278200|.	0.31484|.	N|.	0.007562|.	T|T	0.35158|0.35158	0.0922|0.0922	N|N	0.14661|0.14661	0.345|0.345	0.41878|0.41878	D|D	0.990308|0.990308	B;B;B;B;B;B|.	0.29531|.	0.001;0.247;0.0;0.011;0.001;0.005|.	B;B;B;B;B;B|.	0.37550|.	0.002;0.253;0.002;0.041;0.005;0.005|.	T|T	0.09357|0.09357	-1.0678|-1.0678	9|5	.|.	.|.	.|.	-3.3201|-3.3201	6.7588|6.7588	0.23528|0.23528	0.3155:0.6022:0.0:0.0824|0.3155:0.6022:0.0:0.0824	.|.	378;378;367;367;364;369|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	V|C	369;364;367;367;378;513;475|102	ENSP00000381475:L369V;ENSP00000291524:L364V;ENSP00000381467:L367V;ENSP00000354995:L367V;ENSP00000339744:L378V;ENSP00000381464:L513V;ENSP00000343820:L475V|.	.|.	L|S	+|+	1|2	0|0	ABCG1|ABCG1	42581193|42581193	0.948000|0.948000	0.32251|0.32251	0.964000|0.964000	0.40570|0.40570	0.986000|0.986000	0.74619|0.74619	1.791000|1.791000	0.38744|0.38744	0.926000|0.926000	0.37118|0.37118	0.467000|0.467000	0.42956|0.42956	CTT|TCT		0.567	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		17	238	0	0	0	0	17	238				
SLITRK3	22865	broad.mit.edu	37	3	164906486	164906486	+	Silent	SNP	A	A	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:164906486A>G	ENST00000475390.1	-	2	2576	c.2133T>C	c.(2131-2133)gaT>gaC	p.D711D	SLITRK3_ENST00000241274.3_Silent_p.D711D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	711					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						cacctccaccaTCCTCAAACA	0.582										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(2131-2133)GAT>GAC		slit and trk like 3 protein precursor							90.0	66.0	74.0					3																	164906486		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906486A>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2133T>C	3.37:g.164906486A>G		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.D711D	p.D711D	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2577	-			711			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2133T>C	CCDS3197.1																																																																																				0.582	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		14	72	0	0	0	0	14	72				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			139	67	0	0	0	0	139	67				
IQCG	84223	broad.mit.edu	37	3	197665623	197665623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:197665623G>A	ENST00000265239.6	-	5	735	c.311C>T	c.(310-312)aCg>aTg	p.T104M	IQCG_ENST00000453254.1_Missense_Mutation_p.T104M|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.T104M	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	104						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTCTAGATTCGTTCCTTCTAG	0.358																																						uc003fyo.2		NA																	0					0						c.(310-312)ACG>ATG		IQ motif containing G							197.0	214.0	208.0					3																	197665623		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665623G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.311C>T	3.37:g.197665623G>A	ENSP00000265239:p.Thr104Met					IQCG_uc003fyn.2_Missense_Mutation_p.T6M|IQCG_uc003fyp.2_Missense_Mutation_p.T104M|IQCG_uc003fyq.3_Missense_Mutation_p.T104M	p.T104M	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	457	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		104					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.311C>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322254	0.23994	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.91;0.91;0.97;0.9	4.86	-2.42	0.06542	.	2.564670	0.01070	N	0.004808	T	0.27731	0.0682	N	0.14661	0.345	0.09310	N	1	D;D	0.57571	0.969;0.98	P;B	0.44732	0.459;0.443	T	0.19712	-1.0297	10	0.46703	T	0.11	-1.7997	4.5267	0.11985	0.0:0.2845:0.3232:0.3923	.	104;104	C9JKX8;Q9H095	.;IQCG_HUMAN	M	104;104;104;85	ENSP00000265239:T104M;ENSP00000407736:T104M;ENSP00000389897:T104M;ENSP00000406411:T85M	ENSP00000265239:T104M	T	-	2	0	IQCG	199150020	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.061000	0.11693	-0.230000	0.09840	-0.375000	0.07067	ACG		0.358	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		26	819	0	0	0	0	26	819				
THAP9	79725	broad.mit.edu	37	4	83827690	83827690	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr4:83827690A>G	ENST00000302236.5	+	3	541	c.490A>G	c.(490-492)Aag>Gag	p.K164E		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	164					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GATGATCAAGAAGAGAAAGGG	0.403																																						uc003hnt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(490-492)AAG>GAG		THAP domain containing 9							75.0	72.0	73.0					4																	83827690		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83827690A>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.490A>G	4.37:g.83827690A>G	ENSP00000305533:p.Lys164Glu					THAP9_uc003hns.1_Missense_Mutation_p.K20E|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR	p.K164E	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			3	609	+		Hepatocellular(203;0.114)	164					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.490A>G	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562173	0.27915	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.36520	1.25	3.87	3.87	0.44632	.	0.275589	0.26163	N	0.025973	T	0.21631	0.0521	L	0.34521	1.04	0.26319	N	0.97771	P	0.43392	0.805	B	0.32724	0.151	T	0.16630	-1.0396	10	0.41790	T	0.15	-11.9909	9.3709	0.38252	1.0:0.0:0.0:0.0	.	164	Q9H5L6	THAP9_HUMAN	E	164	ENSP00000305533:K164E	ENSP00000305533:K164E	K	+	1	0	THAP9	84046714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.151000	0.42263	1.991000	0.58162	0.482000	0.46254	AAG		0.403	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		49	117	0	0	0	0	49	117				
CCDC110	256309	broad.mit.edu	37	4	186379447	186379447	+	Missense_Mutation	SNP	C	C	T	rs372188187	byFrequency	TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr4:186379447C>T	ENST00000307588.3	-	6	2369	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	CCDC110_ENST00000393540.3_Missense_Mutation_p.R728Q|CCDC110_ENST00000510617.1_Missense_Mutation_p.R765Q|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	765						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAAGATGCCGCATCTCAAA	0.308													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.001					uc003ixu.3		NA																	0				central_nervous_system(1)	1						c.(2293-2295)CGG>CAG		coiled-coil domain containing 110 isoform a		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	67.0	67.0		2294,2183	1.9	1.0	4		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCDC110	NM_152775.3,NM_001145411.1	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	765/834,728/797	186379447	2,13004	2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186379447C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2294G>A	4.37:g.186379447C>T	ENSP00000306776:p.Arg765Gln					CCDC110_uc003ixv.3_Missense_Mutation_p.R728Q|CCDC110_uc011ckt.1_Missense_Mutation_p.R765Q	p.R765Q	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2370	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	765			Potential.		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2294G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964294	0.18583	2.27E-4	1.16E-4	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.38240	1.15;1.15;1.15	5.54	1.87	0.25490	.	0.306550	0.22947	N	0.053713	T	0.23688	0.0573	L	0.32530	0.975	0.24063	N	0.996006	B;B;B	0.25809	0.135;0.135;0.135	B;B;B	0.16722	0.016;0.01;0.01	T	0.13602	-1.0503	10	0.30078	T	0.28	-0.0742	9.6091	0.39652	0.0:0.6334:0.0:0.3666	.	765;728;765	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Q	728;765;765	ENSP00000377172:R728Q;ENSP00000306776:R765Q;ENSP00000427246:R765Q	ENSP00000306776:R765Q	R	-	2	0	CCDC110	186616441	0.985000	0.35326	0.998000	0.56505	0.987000	0.75469	0.195000	0.17155	0.387000	0.25024	-0.143000	0.13931	CGG		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		18	46	0	0	0	0	18	46				
CHD1	1105	broad.mit.edu	37	5	98237004	98237004	+	Missense_Mutation	SNP	G	G	C	rs368819719		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr5:98237004G>C	ENST00000284049.3	-	5	622	c.473C>G	c.(472-474)tCt>tGt	p.S158C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	158					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACCAGACTGAGATGGAGATCC	0.348																																						uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(472-474)TCT>TGT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						112.0	110.0	111.0					5																	98237004		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98237004G>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.473C>G	5.37:g.98237004G>C	ENSP00000284049:p.Ser158Cys						p.S158C	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	5	621	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	158					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.473C>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497235	0.85069	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.90197	-2.63	5.62	5.62	0.85841	.	0.000000	0.32819	U	0.005602	D	0.94092	0.8106	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.94092	0.7354	10	0.66056	D	0.02	.	18.2105	0.89868	0.0:0.0:1.0:0.0	.	158	O14646	CHD1_HUMAN	C	158	ENSP00000284049:S158C	ENSP00000284049:S158C	S	-	2	0	CHD1	98264904	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.789000	0.62446	2.794000	0.96219	0.650000	0.86243	TCT		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		52	176	0	0	0	0	52	176				
C6orf58	352999	broad.mit.edu	37	6	127911331	127911331	+	Silent	SNP	A	A	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr6:127911331A>G	ENST00000329722.7	+	5	786	c.774A>G	c.(772-774)agA>agG	p.R258R		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	258						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCTTGATTAGATCATATAAGT	0.408																																						uc003qbh.2		NA																	0					0						c.(772-774)AGA>AGG		hypothetical protein LOC352999 precursor							153.0	152.0	152.0					6																	127911331		2203	4300	6503	SO:0001819	synonymous_variant	352999					extracellular region		g.chr6:127911331A>G	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.774A>G	6.37:g.127911331A>G							p.R258R	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	786	+			258					B4E1I0|Q5VUP2	Silent	SNP	ENST00000329722.7	37	c.774A>G	CCDS34533.1																																																																																				0.408	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		68	145	0	0	0	0	68	145				
SYNE1	23345	broad.mit.edu	37	6	152461285	152461285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr6:152461285G>A	ENST00000367255.5	-	140	25859	c.25258C>T	c.(25258-25260)Cga>Tga	p.R8420*	SYNE1_ENST00000354674.4_Nonsense_Mutation_p.R598*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R8420*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.R575*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.R2944*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R8032*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8420					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCCATCGGTCAATCACA	0.453										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25258-25260)CGA>TGA		spectrin repeat containing, nuclear envelope 1							106.0	91.0	96.0					6																	152461285		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461285G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25258C>T	6.37:g.152461285G>A	ENSP00000356224:p.Arg8420*	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2944*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2944*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R8372*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R8420*|SYNE1_uc003qop.3_Nonsense_Mutation_p.R605*|SYNE1_uc011eez.1_Nonsense_Mutation_p.R622*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.R622*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R1343*	p.R8420*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	25860	-		Ovarian(120;0.0955)	8420			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.25258C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	50	17.161668	0.99880	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	5.92	5.04	0.67666	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3013	0.73955	0.0:0.0:0.7456:0.2544	.	.	.	.	X	8420;575;1066;8372;8420;8372;8032;2944;605;600;1365;598	.	ENSP00000265368:R8420X	R	-	1	2	SYNE1	152502978	1.000000	0.71417	0.998000	0.56505	0.424000	0.31475	5.673000	0.68109	1.474000	0.48178	0.561000	0.74099	CGA		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		26	85	0	0	0	0	26	85				
DNAH11	8701	broad.mit.edu	37	7	21598482	21598482	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr7:21598482A>T	ENST00000409508.3	+	3	589	c.558A>T	c.(556-558)caA>caT	p.Q186H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q186H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	186	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACTTCACAAGATATGGAAT	0.333									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(556-558)CAA>CAT		dynein, axonemal, heavy chain 11							46.0	44.0	44.0					7																	21598482		1816	4074	5890	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21598482A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.558A>T	7.37:g.21598482A>T	ENSP00000475939:p.Gln186His						p.Q186H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			3	589	+			186			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.558A>T		.	.	.	.	.	.	.	.	.	.	A	16.00	2.998673	0.54147	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	6.02	6.02	0.97574	.	0.127300	0.53938	D	0.000050	T	0.33614	0.0869	M	0.68317	2.08	0.40411	D	0.979749	D	0.56521	0.976	P	0.47744	0.556	T	0.22138	-1.0225	10	0.54805	T	0.06	.	9.9377	0.41561	0.9238:0.0:0.0762:0.0	.	186	Q96DT5	DYH11_HUMAN	H	186	ENSP00000330671:Q186H	ENSP00000330671:Q186H	Q	+	3	2	DNAH11	21565007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	2.304000	0.77564	0.528000	0.53228	CAA		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	26	0	0	0	0	4	26				
FZD1	8321	broad.mit.edu	37	7	90895605	90895605	+	Silent	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr7:90895605C>T	ENST00000287934.2	+	1	1823	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	470					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGGTGGACGGCGATGTGCTGA	0.622																																						uc003ula.2		NA																	0					0						c.(1408-1410)GGC>GGT		frizzled 1 precursor							148.0	132.0	138.0					7																	90895605		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895605C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1410C>T	7.37:g.90895605C>T							p.G470G	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1823	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		470			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1410C>T	CCDS5620.1																																																																																				0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		5	209	0	0	0	0	5	209				
ERCC6L2	375748	broad.mit.edu	37	9	98740378	98740378	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr9:98740378C>G	ENST00000407474.3	+	2	829	c.316C>G	c.(316-318)Cag>Gag	p.Q106E				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1136					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TCACTCAAACCAGAATGTAAT	0.388																																						uc004avu.2		NA																	0					0						c.(1246-1248)CAG>GAG		Homo sapiens cDNA, FLJ97452.							102.0	93.0	96.0					9																	98740378		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98740378C>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.316C>G	9.37:g.98740378C>G	ENSP00000384365:p.Gln106Glu					uc010msa.1_Missense_Mutation_p.Q106E|uc011lun.1_Missense_Mutation_p.Q106E	p.Q416E			Q5T890	RAD26_HUMAN			12	2491	+		Acute lymphoblastic leukemia(62;0.0559)	Error:Variant_position_missing_in_Q5T890_after_alignment					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.1246C>G		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152466	0.78001	.	.	ENSG00000182150	ENST00000407474	.	.	.	4.94	4.94	0.65067	.	0.000000	0.44097	D	0.000489	T	0.80319	0.4601	.	.	.	0.37486	D	0.916202	D	0.89917	1.0	D	0.83275	0.996	D	0.83883	0.0280	8	0.62326	D	0.03	.	18.7205	0.91691	0.0:1.0:0.0:0.0	.	106	A4D997	CI102_HUMAN	E	106	.	ENSP00000384365:Q106E	Q	+	1	0	C9orf102	97780199	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.754000	0.68743	2.706000	0.92434	0.655000	0.94253	CAG		0.388	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		20	67	0	0	0	0	20	67				
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						uc004czg.3		NA																	0				ovary(1)	1						c.(319-321)GGC>GAC		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D	p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN			4	465	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.320G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			6	222	0	0	0	0	6	222				
PCDH11X	27328	broad.mit.edu	37	X	91642836	91642836	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:91642836C>G	ENST00000373094.1	+	5	4092	c.3247C>G	c.(3247-3249)Cat>Gat	p.H1083D	PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1083D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1046D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1046D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1073D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1073D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1083					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1083Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGCACATCTCATGGCCTGCC	0.552																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3247-3249)CAT>GAT		protocadherin 11 X-linked isoform c							199.0	153.0	169.0					X																	91642836		2201	4298	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642836C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3247C>G	X.37:g.91642836C>G	ENSP00000362186:p.His1083Asp					PCDH11X_uc004efl.1_Missense_Mutation_p.H1073D|PCDH11X_uc004efo.1_Missense_Mutation_p.H1046D|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.H1083D|PCDH11X_uc004efn.1_Missense_Mutation_p.H1073D	p.H1083D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			5	4092	+			1083			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3247C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.581125	0.03854	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.53857	0.67;0.62;0.6;0.64;0.7;0.6	2.83	0.942	0.19525	.	0.239958	0.25472	U	0.030428	T	0.47875	0.1469	L	0.43152	1.355	0.31083	N	0.711753	D;D;D;D;D	0.58620	0.967;0.983;0.983;0.983;0.972	P;P;P;P;P	0.50860	0.652;0.652;0.652;0.652;0.449	T	0.52351	-0.8587	10	0.41790	T	0.15	.	7.5506	0.27796	0.0:0.7652:0.0:0.2348	.	1046;1073;1083;1073;1083	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	D	1083;1073;1046;1073;1083;1083;1046	ENSP00000362186:H1083D;ENSP00000362189:H1073D;ENSP00000362180:H1046D;ENSP00000355105:H1073D;ENSP00000384758:H1083D;ENSP00000298274:H1046D	ENSP00000298274:H1046D	H	+	1	0	PCDH11X	91529492	1.000000	0.71417	0.961000	0.40146	0.342000	0.28953	3.811000	0.55620	-0.016000	0.14127	0.502000	0.49764	CAT		0.552	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		38	134	0	0	0	0	38	134				
WDR44	54521	broad.mit.edu	37	X	117532358	117532358	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:117532358C>T	ENST00000254029.3	+	8	1594	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	WDR44_ENST00000371825.3_Missense_Mutation_p.A400V|WDR44_ENST00000371822.5_Missense_Mutation_p.A375V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	400						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTAATGACGCGGCACAGTCA	0.358																																						uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1198-1200)GCG>GTG		WD repeat domain 44 protein							130.0	113.0	119.0					X																	117532358		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117532358C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1199C>T	X.37:g.117532358C>T	ENSP00000254029:p.Ala400Val					WDR44_uc004eqo.2_Missense_Mutation_p.A400V|WDR44_uc011mtr.1_Missense_Mutation_p.A375V|WDR44_uc010nqi.2_Missense_Mutation_p.A110V	p.A400V	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			8	1624	+			400					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1199C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394605	0.83011	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75260	-0.92;-0.34;-0.21	5.92	5.92	0.95590	.	0.045219	0.85682	D	0.000000	T	0.77718	0.4172	L	0.29908	0.895	0.58432	D	0.999999	P;D;D;P	0.65815	0.866;0.986;0.995;0.667	B;P;P;B	0.57720	0.216;0.623;0.826;0.154	T	0.79822	-0.1641	10	0.66056	D	0.02	-13.3631	18.0906	0.89474	0.0:1.0:0.0:0.0	.	375;400;400;400	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	V	375;400;400	ENSP00000360887:A375V;ENSP00000254029:A400V;ENSP00000360890:A400V	ENSP00000254029:A400V	A	+	2	0	WDR44	117416386	1.000000	0.71417	0.758000	0.31321	0.879000	0.50718	7.581000	0.82535	2.495000	0.84180	0.600000	0.82982	GCG		0.358	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		36	95	0	0	0	0	36	95				
LAX1	54900	broad.mit.edu	37	1	203743036	203743038	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:203743036_203743038delACA	ENST00000442561.2	+	5	814_816	c.424_426delACA	c.(424-426)acadel	p.T142del	LAX1_ENST00000367217.5_In_Frame_Del_p.T126del|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	142					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGGAGCATACAGCCCACATCC	0.527																																						uc001haa.2		NA																	0				central_nervous_system(2)	2						c.(424-426)ACAdel		lymphocyte transmembrane adaptor 1 isoform a																																				SO:0001651	inframe_deletion	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743036_203743038delACA	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.424_426delACA	1.37:g.203743036_203743038delACA	ENSP00000406970:p.Thr142del					LAX1_uc010pql.1_In_Frame_Del_p.T126del|LAX1_uc001hab.2_In_Frame_Del_p.T66del	p.T142del	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	834_836	+	all_cancers(21;0.0915)		142			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	In_Frame_Del	DEL	ENST00000442561.2	37	c.424_426delACA	CCDS1441.2																																																																																				0.527	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		19	73	NA	NA	NA	NA	19	73	---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96348062	96348062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:96348062delT	ENST00000348459.5	+	13	1508	c.1403delT	c.(1402-1404)gttfs	p.V468fs	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Frame_Shift_Del_p.V370fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.V514fs	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GAAGTAGTCGTTTATGCTCCA	0.363																																						uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(1402-1404)GTTfs		helicase, lymphoid-specific							100.0	97.0	98.0					10																	96348062		2203	4300	6503	SO:0001589	frameshift_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96348062delT	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1403delT	10.37:g.96348062delT	ENSP00000239027:p.Val468fs					HELLS_uc001kjs.2_Frame_Shift_Del_p.V452fs|HELLS_uc009xul.2_Frame_Shift_Del_p.V370fs|HELLS_uc009xum.2_Frame_Shift_Del_p.V338fs|HELLS_uc009xun.2_Frame_Shift_Del_p.V344fs|HELLS_uc009xuo.2_Frame_Shift_Del_p.V514fs|HELLS_uc001kju.2_Frame_Shift_Del_p.V107fs|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Frame_Shift_Del_p.V330fs|HELLS_uc009xur.2_RNA	p.V468fs	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	13	1508	+		Colorectal(252;0.0429)	468						Frame_Shift_Del	DEL	ENST00000348459.5	37	c.1403delT	CCDS7434.1																																																																																				0.363	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		35	82	NA	NA	NA	NA	35	82	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						uc002wva.2		NA																	0					0						c.(691-693)ACAfs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.T199fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.T231fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.T231fs	p.T231fs	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1214_1215	-			231					B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	184	NA	NA	NA	NA	7	184	---	---	---	---
