#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDF4	51150	broad.mit.edu	37	1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T	rs192791486	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:1154157C>T	ENST00000360001.6	-	5	990	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	SDF4_ENST00000263741.7_Missense_Mutation_p.R243Q			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	243	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACCCAGGTCCCGGACGATCTC	0.697													c|||	4	0.000798722	0.0	0.0	5008	,	,		15130	0.004		0.0	False		,,,				2504	0.0					ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(727-729)cGg>cAg		stromal cell derived factor 4							64.0	70.0	68.0					1																	1154157		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154157C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.728G>A	1.37:g.1154157C>T	ENSP00000353094:p.Arg243Gln		Somatic				SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	WXS	Illumina GAIIx	Phase_I	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	5	1020	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	243			EF-hand 4.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.728G>A	CCDS30553.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	17.33	3.361760	0.61403	.	.	ENSG00000078808	ENST00000360001;ENST00000263741	T;T	0.20069	2.1;2.1	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68039	0.955;0.787	T	0.19095	-1.0316	10	0.45353	T	0.12	-28.832	16.2798	0.82670	0.0:1.0:0.0:0.0	.	243;243	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	Q	243	ENSP00000353094:R243Q;ENSP00000263741:R243Q	ENSP00000263741:R243Q	R	-	2	0	SDF4	1144020	1.000000	0.71417	0.947000	0.38551	0.829000	0.46940	5.803000	0.69129	2.058000	0.61347	0.305000	0.20034	CGG		0.697	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		6	192	6	192	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:111216759C>T	ENST00000369769.2	-	1	896	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCGGGGTACTCGAAGAGCAGC	0.677																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(673-675)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 3							31.0	39.0	37.0					1																	111216759		2202	4296	6498	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216759C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.673G>A	1.37:g.111216759C>T	ENSP00000358784:p.Glu225Lys		Somatic					p.E225K	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	896	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	225					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.673G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737440	0.89482	.	.	ENSG00000177272	ENST00000369769	T	0.67865	-0.29	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87341	0.2331	10	0.87932	D	0	.	17.82	0.88648	0.0:1.0:0.0:0.0	.	225	P22001	KCNA3_HUMAN	K	225	ENSP00000358784:E225K	ENSP00000358784:E225K	E	-	1	0	KCNA3	111018282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.704000	0.84595	2.209000	0.71365	0.561000	0.74099	GAG		0.677	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		44	98	44	98	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	rs371470806		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:181745355G>A	ENST00000367573.2	+	38	5258	c.5258G>A	c.(5257-5259)cGa>cAa	p.R1753Q	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5200-5202)cGa>cAa		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3900		0,0,1950	101.0	102.0	102.0		5258,5258,5201	5.3	1.0	1		102	1,8271		0,1,4135	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	1753/2271,1753/2314,1734/2252	181745355	1,12171	1950	4136	6086	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745355G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5258G>A	1.37:g.181745355G>A	ENSP00000356545:p.Arg1753Gln		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q	p.R1734Q	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			37	5366	+			1753					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5201G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386960	0.95988	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.84;-3.84;-3.85;-3.84;-3.91;-3.85;-3.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.76494	0.99;0.992;0.999	P;P;P	0.61874	0.877;0.881;0.895	D	0.96583	0.9432	10	0.72032	D	0.01	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	1734;1753;1753	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	1753;1734;1704;1685;1360;1734;1753	ENSP00000356542:R1753Q;ENSP00000434814:R1734Q;ENSP00000350183:R1704Q;ENSP00000351101:R1685Q;ENSP00000356539:R1360Q;ENSP00000353222:R1734Q;ENSP00000356545:R1753Q	ENSP00000350183:R1704Q	R	+	2	0	CACNA1E	180011978	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	6.509000	0.73725	2.479000	0.83701	0.655000	0.94253	CGA		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		79	104	79	104	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196711060	196711060	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3010-3012)aaG>aaA		complement factor H							119.0	111.0	113.0					1																	196711060		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711060G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3012G>A	1.37:g.196711060G>A			Somatic					p.K1004K	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	P08603	CFAH_HUMAN			19	3252	+			1004			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3012G>A	CCDS1385.1																																																																																				0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	90	5	90	---	---	---	---
TMEM177	80775	broad.mit.edu	37	2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGGGAAGTGGTGTACCTGGA	0.662																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(475-477)Gtg>Atg		transmembrane protein 177							69.0	77.0	75.0					2																	120438904		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120438904G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.475G>A	2.37:g.120438904G>A	ENSP00000402661:p.Val159Met		Somatic				TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M	p.V159M	NM_001105198.1	NP_001098668.1	WXS	Illumina GAIIx	Phase_I	Q53S58	TM177_HUMAN			2	948	+	Colorectal(110;0.196)		159					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.475G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155754	0.21454	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.46819	0.86;0.86;0.86	4.36	0.215	0.15253	.	0.187736	0.46145	N	0.000320	T	0.33294	0.0858	L	0.43701	1.375	0.39946	D	0.974473	B	0.18166	0.026	B	0.21708	0.036	T	0.07712	-1.0758	10	0.35671	T	0.21	-1.0467	5.4991	0.16819	0.2784:0.1489:0.5727:0.0	.	159	Q53S58	TM177_HUMAN	M	159	ENSP00000385966:V159M;ENSP00000402661:V159M;ENSP00000272521:V159M	ENSP00000272521:V159M	V	+	1	0	TMEM177	120155374	0.984000	0.35163	0.898000	0.35279	0.836000	0.47400	0.462000	0.21956	0.218000	0.20820	-0.480000	0.04831	GTG		0.662	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		8	166	8	166	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62535600	62535600	+	Silent	SNP	C	C	G			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:62535600C>G	ENST00000383710.4	-	11	2293	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CADPS_ENST00000357948.3_Silent_p.L648L|CADPS_ENST00000283269.9_Silent_p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	648					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGGGCATCCAGCTGAGGTA	0.473																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1942-1944)ctG>ctC		Ca++-dependent secretion activator							101.0	94.0	97.0					3																	62535600		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535600C>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1944G>C	3.37:g.62535600C>G			Somatic				CADPS_ENST00000283269.9_Silent_p.L648L|CADPS_ENST00000357948.3_Silent_p.L648L	p.L648L	NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	11	2293	-		Lung SC(41;0.0452)	648					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1944G>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454625	0.12283	.	.	ENSG00000163618	ENST00000478434	.	.	.	4.71	2.91	0.33838	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51244	-0.8730	4	.	.	.	.	6.9963	0.24784	0.0:0.7079:0.0:0.2921	.	.	.	.	S	79	.	.	W	-	2	0	CADPS	62510640	0.999000	0.42202	1.000000	0.80357	0.913000	0.54294	0.647000	0.24812	1.354000	0.45846	-0.237000	0.12165	TGG		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		40	70	40	70	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:89528621C>T	ENST00000336596.2	+	17	3146	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	974	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTCTAGAAACGCAATCAAAG	0.468										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2920-2922)aCg>aTg		EPH receptor A3							94.0	82.0	86.0					3																	89528621		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89528621C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2921C>T	3.37:g.89528621C>T	ENSP00000337451:p.Thr974Met	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_3'UTR	p.T974M	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	17	3146	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	974			SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2921C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678678	0.47886	.	.	ENSG00000044524	ENST00000336596	T	0.06768	3.26	5.72	5.72	0.89469	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.049227	0.85682	D	0.000000	T	0.08846	0.0219	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.14023	0.01	T	0.20706	-1.0267	9	.	.	.	.	14.4171	0.67158	0.0:0.9296:0.0:0.0704	.	974	P29320	EPHA3_HUMAN	M	974	ENSP00000337451:T974M	.	T	+	2	0	EPHA3	89611311	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.626000	0.61269	2.857000	0.98124	0.650000	0.86243	ACG		0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	30	7	30	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCTGCATCTGTGGCCTTGAC	0.413										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(553-555)aCa>aGa		cadherin 12, type 2 (N-cadherin 2)							113.0	105.0	108.0					5																	21854872		2203	4299	6502	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854872G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.554C>G	5.37:g.21854872G>C	ENSP00000371689:p.Thr185Arg	HNSCC(59;0.17)	Somatic				CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	p.T185R	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			7	1640	-			185			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.554C>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383877	0.82792	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.55930	0.49;0.49	5.4	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.046898	0.85682	D	0.000000	T	0.65502	0.2697	M	0.71920	2.185	0.80722	D	1	P	0.40211	0.707	P	0.52514	0.701	T	0.69045	-0.5249	10	0.87932	D	0	.	13.8793	0.63674	0.0736:0.0:0.9264:0.0	.	185	P55289	CAD12_HUMAN	R	185	ENSP00000423577:T185R;ENSP00000371689:T185R	ENSP00000371689:T185R	T	-	2	0	CDH12	21890629	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.905000	0.87416	2.684000	0.91462	0.650000	0.86243	ACA		0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		21	26	21	26	---	---	---	---
PCDHB17	54661	broad.mit.edu	37	5	140537272	140537272	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:140537272C>T	ENST00000539533.1	+	1	1696	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C						protocadherin beta 17 pseudogene																		GTGCTGTACCCGCTGCAGAAC	0.721																																						ENST00000539533.1																			0											c.(1696-1698)Cgc>Tgc																																						SO:0001583	missense	54661							g.chr5:140537272C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1696C>T	5.37:g.140537272C>T	ENSP00000438685:p.Arg566Cys		Somatic					p.R566C			WXS	Illumina GAIIx	Phase_I					1	1696	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1696C>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.543474	0.86022	.	.	ENSG00000255622	ENST00000539533	T	0.56941	0.43	4.99	4.99	0.66335	.	.	.	.	.	T	0.49321	0.1550	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.56013	-0.8049	7	0.72032	D	0.01	.	18.3093	0.90193	0.0:1.0:0.0:0.0	.	566	Q96T98	.	C	566	ENSP00000438685:R566C	ENSP00000438685:R566C	R	+	1	0	AC005754.1	140517456	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	3.548000	0.53670	2.486000	0.83907	0.556000	0.70494	CGC		0.721	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	95	4	95	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr6:158514069T>A	ENST00000355585.4	+	26	3752	c.3677T>A	c.(3676-3678)cTc>cAc	p.L1226H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGCCCCCACTCCTTCCCCGT	0.592																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3676-3678)cTc>cAc		synaptojanin 2							47.0	53.0	51.0					6																	158514069		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158514069T>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3677T>A	6.37:g.158514069T>A	ENSP00000347792:p.Leu1226His		Somatic				SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H	p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina GAIIx	Phase_I	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	26	3752	+			1226			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3677T>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232146	0.58777	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94537	-3.36;-3.45;-3.22;0.61	5.57	1.72	0.24424	.	0.395756	0.21644	N	0.071297	D	0.89178	0.6641	L	0.43923	1.385	0.18873	N	0.999989	D;D;D	0.63046	0.992;0.986;0.989	P;P;P	0.55345	0.711;0.711;0.774	D	0.83972	0.0327	10	0.66056	D	0.02	.	5.691	0.17829	0.0:0.2142:0.1317:0.6541	.	621;1226;1226	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	H	1181;1226;1226;311	ENSP00000356089:L1181H;ENSP00000356088:L1226H;ENSP00000347792:L1226H;ENSP00000356079:L311H	ENSP00000347792:L1226H	L	+	2	0	SYNJ2	158434057	0.004000	0.15560	0.010000	0.14722	0.105000	0.19272	0.473000	0.22132	-0.537000	0.06290	-0.133000	0.14855	CTC		0.592	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			8	65	8	65	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:45750138G>T	ENST00000297323.7	+	19	2966	c.2944G>T	c.(2944-2946)Ggc>Tgc	p.G982C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	982					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCAATGTTGGCCCTGTGGT	0.577																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2944-2946)Ggc>Tgc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						89.0	84.0	86.0					7																	45750138		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750138G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2944G>T	7.37:g.45750138G>T	ENSP00000297323:p.Gly982Cys		Somatic					p.G982C	NM_021116.2	NP_066939.1	WXS	Illumina GAIIx	Phase_I	Q08828	ADCY1_HUMAN			19	2966	+			982					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2944G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308189	0.81247	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.86769	-2.17	4.97	4.97	0.65823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	16.1123	0.81271	0.0:0.0:1.0:0.0	.	982	Q08828	ADCY1_HUMAN	C	982	ENSP00000297323:G982C	ENSP00000297323:G982C	G	+	1	0	ADCY1	45716663	1.000000	0.71417	0.968000	0.41197	0.695000	0.40330	9.044000	0.93805	2.739000	0.93911	0.561000	0.74099	GGC		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		8	115	8	115	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:72891995G>T	ENST00000339594.4	-	7	2134	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	599					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCCCTTCAGGGGTATCCAC	0.458																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1795-1797)cCt>cAt		bromodomain adjacent to zinc finger domain, 1B							115.0	125.0	121.0					7																	72891995		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891995G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1796C>A	7.37:g.72891995G>T	ENSP00000342434:p.Pro599His		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	p.P599H	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			7	2134	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	599					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1796C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955094	0.73902	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.66638	-0.22;-0.22	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.79072	-0.1953	10	0.52906	T	0.07	-17.4923	19.0882	0.93215	0.0:0.0:1.0:0.0	.	599	Q9UIG0	BAZ1B_HUMAN	H	599	ENSP00000342434:P599H;ENSP00000385442:P599H	ENSP00000342434:P599H	P	-	2	0	BAZ1B	72529931	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.161000	0.94739	2.760000	0.94817	0.655000	0.94253	CCT		0.458	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		6	161	6	161	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:41705461T>A	ENST00000379485.1	-	1	1421	c.1187A>T	c.(1186-1188)tAt>tTt	p.Y396F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	396										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGCTAGATAGATGTCATG	0.517																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1186-1188)tAt>tTt		kelch repeat and BTB (POZ) domain containing 6							119.0	109.0	113.0					13																	41705461		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705461T>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1187A>T	13.37:g.41705461T>A	ENSP00000368799:p.Tyr396Phe		Somatic				KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	p.Y396F	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1421	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	396					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1187A>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	6.486	0.457897	0.12342	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.73575	-0.76;-0.76	3.8	2.62	0.31277	Kelch-type beta propeller (1);	0.073479	0.56097	D	0.000034	T	0.63733	0.2536	L	0.49350	1.555	0.29537	N	0.852397	B;B	0.34255	0.404;0.445	B;B	0.34931	0.192;0.077	T	0.57148	-0.7861	10	0.30854	T	0.27	.	6.7322	0.23388	0.0:0.1222:0.0:0.8778	.	330;396	F5GZN7;Q86V97	.;KBTB6_HUMAN	F	396;330	ENSP00000368799:Y396F;ENSP00000444326:Y330F	ENSP00000368799:Y396F	Y	-	2	0	KBTBD6	40603461	1.000000	0.71417	0.788000	0.31933	0.203000	0.24098	1.830000	0.39131	0.649000	0.30751	0.379000	0.24179	TAT		0.517	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		78	101	78	101	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76379699	76379699	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:76379699G>A	ENST00000321797.8	+	7	1021	c.300G>A	c.(298-300)gaG>gaA	p.E100E	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000377534.3_Silent_p.E385E|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	385	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTTGGAAGAGGAAAAAGCAA	0.433																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1153-1155)gaG>gaA		LIM domain 7							211.0	191.0	197.0					13																	76379699		1568	3582	5150	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379699G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.300G>A	13.37:g.76379699G>A			Somatic				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Silent_p.E100E	p.E385E			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2415	+		Breast(118;0.0992)	385					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.1155G>A																																																																																					0.433	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	197	5	197	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2606635	2606635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:2606635delC	ENST00000570628.2	-	3	443	c.338delG	c.(337-339)ggcfs	p.G113fs	CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	113					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGCACAGAGCCCTCCTGCAG	0.667																																						ENST00000570628.2																			0											c.(337-339)ggcfs		clustered mitochondria (cluA/CLU1) homolog							30.0	34.0	33.0					17																	2606635		2191	4282	6473	SO:0001589	frameshift_variant	23277							g.chr17:2606635delC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.338delG	17.37:g.2606635delC	ENSP00000458986:p.Gly113fs		Somatic				CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs	p.G113fs			WXS	Illumina GAIIx	Phase_I					3	443	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	37	c.338delG	CCDS45572.1																																																																																				0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		7	11	7	11	---	---	---	---
