#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MECR	51102	broad.mit.edu	37	1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:29527049G>A	ENST00000263702.6	-	7	834	c.809C>T	c.(808-810)aCa>aTa	p.T270I	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.T194I			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	270					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGCAGCTCTGTGGAGCTTTT	0.562																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(580-582)aCa>aTa		mitochondrial trans-2-enoyl-CoA reductase							65.0	62.0	63.0					1																	29527049		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29527049G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.809C>T	1.37:g.29527049G>A	ENSP00000263702:p.Thr270Ile					MECR_ENST00000263702.6_Missense_Mutation_p.T270I	p.T194I	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	7	953	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	270					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.581C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021042	0.75275	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.04454	3.62;3.62	5.71	4.8	0.61643	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.140761	0.64402	N	0.000005	T	0.13628	0.0330	M	0.79258	2.445	0.80722	D	1	P	0.42941	0.794	P	0.48840	0.592	T	0.00518	-1.1693	10	0.52906	T	0.07	-12.3087	12.3689	0.55244	0.0818:0.0:0.9182:0.0	.	270	Q9BV79	MECR_HUMAN	I	194;270	ENSP00000362896:T194I;ENSP00000263702:T270I	ENSP00000263702:T270I	T	-	2	0	MECR	29399636	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.416000	0.73332	1.406000	0.46857	0.655000	0.94253	ACA		0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		4	26	4	26	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:33797885A>C	ENST00000257118.5	-	10	1932	c.1879T>G	c.(1879-1881)Tat>Gat	p.Y627D	PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	627					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGCAGATAGGGCTCCTCC	0.567																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1879-1881)Tat>Gat		polyhomeotic homolog 2 (Drosophila)							170.0	144.0	152.0					1																	33797885		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797885A>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1879T>G	1.37:g.33797885A>C	ENSP00000257118:p.Tyr627Asp					PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000485928.1_5'UTR	p.Y627D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			10	1932	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	627					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1879T>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604947	0.66445	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.44881	1.92;1.5;0.91;1.91	6.17	6.17	0.99709	.	0.695069	0.15258	N	0.271927	T	0.45438	0.1342	N	0.16368	0.405	0.35457	D	0.796221	D;D;D;D	0.67145	0.994;0.994;0.994;0.996	P;P;P;P	0.62184	0.795;0.795;0.795;0.899	T	0.51268	-0.8727	10	0.33141	T	0.24	-9.8153	13.214	0.59844	1.0:0.0:0.0:0.0	.	628;599;627;42	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	D	598;627;233;92;205;628;92	ENSP00000389436:Y598D;ENSP00000257118:Y627D;ENSP00000362521:Y233D;ENSP00000391440:Y628D	ENSP00000257118:Y627D	Y	-	1	0	PHC2	33570472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.128000	0.50492	2.371000	0.80710	0.533000	0.62120	TAT		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		4	95	4	95	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	228					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGGGAAGTGGGCGAAGTT	0.577										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(682-684)cAc>cGc		leucine rich repeat transmembrane neuronal 1							112.0	108.0	109.0					2																	80530262		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530262T>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.683A>G	2.37:g.80530262T>C	ENSP00000295057:p.His228Arg	HNSCC(69;0.2)				CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron	p.H228R	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1339	-			228					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.683A>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091478	0.55968	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79454	-1.27;-1.27	5.26	4.1	0.47936	.	0.000000	0.85682	U	0.000000	D	0.83839	0.5341	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.82137	-0.0606	9	.	.	.	.	10.7829	0.46388	0.0:0.0749:0.0:0.9251	.	228	Q86UE6	LRRT1_HUMAN	R	228	ENSP00000295057:H228R;ENSP00000386646:H228R	.	H	-	2	0	LRRTM1	80383773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	0.826000	0.34661	0.533000	0.62120	CAC		0.577	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		39	76	39	76	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883536	228883536	+	Silent	SNP	A	A	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:228883536A>G	ENST00000392056.3	-	7	2080	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SPHKAP_ENST00000344657.5_Silent_p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	678						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCAATGGAATGCCTCAGGA	0.418																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2032-2034)caT>caC		SPHK1 interactor, AKAP domain containing							256.0	234.0	242.0					2																	228883536		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228883536A>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2034T>C	2.37:g.228883536A>G						SPHKAP_ENST00000344657.5_Silent_p.H678H	p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2080	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	678					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2034T>C	CCDS46537.1																																																																																				0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		103	173	103	173	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89468541	89468541	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:89468541G>T	ENST00000336596.2	+	11	2299		c.e11+1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						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)		GTTACCAAAAGTAAGTAAAGT	0.398										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.e11+1		EPH receptor A3							89.0	84.0	86.0					3																	89468541		2203	4297	6500	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89468541G>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.2074+1G>T	3.37:g.89468541G>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Splice_Site		NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2299	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37		CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847459	0.51164	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8493	0.96733	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89551231	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	9.869000	0.99810	2.701000	0.92244	0.563000	0.77884	.		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	22	48	22	48	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135722332	135722332	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:135722332C>T	ENST00000264977.3	+	2	2609	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	664					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGGTGATCAAGGTAAGAC	0.353																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1990-1992)atC>atT		protein phosphatase 2, regulatory subunit B'', alpha							56.0	54.0	54.0					3																	135722332		2202	4298	6500	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722332C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1992C>T	3.37:g.135722332C>T						PPP2R3A_ENST00000490467.1_Intron	p.I664I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2609	+			664					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1992C>T	CCDS3087.1																																																																																				0.353	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		18	66	18	66	---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:15964674C>T	ENST00000259989.6	-	1	185	c.79G>A	c.(79-81)Gga>Aga	p.G27R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	27						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGTGCTTCCTTGCTTTTGC	0.577																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(79-81)Gga>Aga		fibroblast growth factor binding protein 2							70.0	62.0	65.0					4																	15964674		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964674C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.79G>A	4.37:g.15964674C>T	ENSP00000259989:p.Gly27Arg					FGFBP2_ENST00000509331.1_Intron	p.G27R	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	185	-			27						Missense_Mutation	SNP	ENST00000259989.6	37	c.79G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.863	0.160354	0.09287	.	.	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.98	-0.787	0.10943	.	0.879670	0.09515	N	0.791814	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.45234	-0.9275	10	0.08179	T	0.78	-0.6653	6.8372	0.23943	0.0:0.3765:0.0:0.6235	.	27	Q9BYJ0	FGFP2_HUMAN	R	27	ENSP00000259989:G27R	ENSP00000259989:G27R	G	-	1	0	FGFBP2	15573772	0.183000	0.23186	0.009000	0.14445	0.046000	0.14306	0.239000	0.18023	-0.141000	0.11374	-0.157000	0.13467	GGA		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		12	36	12	36	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K			Q6ZU35	K1211_HUMAN	KIAA1211	452	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTATTTGCGAGGAGCAGAA	0.592																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1354-1356)Gag>Aag		KIAA1211							28.0	38.0	35.0					4																	57181022		1998	4175	6173	SO:0001583	missense	57482							g.chr4:57181022G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1354G>A	4.37:g.57181022G>A	ENSP00000423366:p.Glu452Lys					KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K	p.E452K			Q6ZU35	K1211_HUMAN			6	1459	+	Glioma(25;0.08)|all_neural(26;0.101)		452			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1354G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293813	0.23564	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12465	2.68;2.68;2.68	4.89	-2.07	0.07276	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31613	-0.9937	9	0.37606	T	0.19	.	3.9128	0.09210	0.2849:0.3554:0.2808:0.0789	.	445;445;452	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	452;452;445;362	ENSP00000264229:E452K;ENSP00000423366:E452K;ENSP00000444006:E445K	ENSP00000264229:E452K	E	+	1	0	KIAA1211	56875779	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.030000	0.12308	-1.592000	0.01619	-1.598000	0.00824	GAG		0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	14	3	14	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:140559000G>A	ENST00000239444.2	+	1	1630	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.R462P(1)	lung(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1384-1386)cGc>cAc									101.0	145.0	130.0					5																	140559000		2203	4297	6500	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559000G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1385G>A	5.37:g.140559000G>A	ENSP00000239444:p.Arg462His						p.R462H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1630	+			462			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1385G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012079	0.19277	.	.	ENSG00000120322	ENST00000239444	T	0.01767	4.65	4.26	-0.0626	0.13780	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.45581	1.43	0.09310	N	1	B	0.28258	0.205	B	0.26969	0.075	T	0.46303	-0.9201	9	0.37606	T	0.19	.	1.8958	0.03257	0.2297:0.25:0.3933:0.127	.	462	Q9UN66	PCDB8_HUMAN	H	462	ENSP00000239444:R462H	ENSP00000239444:R462H	R	+	2	0	PCDHB8	140539184	0.000000	0.05858	0.705000	0.30386	0.561000	0.35649	-4.039000	0.00308	0.246000	0.21394	0.305000	0.20034	CGC		0.627	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		21	325	21	325	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:153174234A>T	ENST00000285900.5	+	14	2667	c.2324A>T	c.(2323-2325)aAa>aTa	p.K775I	GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	775					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTTTGGACAAATTGAAAAAC	0.443																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2323-2325)aAa>aTa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						71.0	72.0	72.0					5																	153174234		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174234A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2324A>T	5.37:g.153174234A>T	ENSP00000285900:p.Lys775Ile					GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000448073.4_Intron	p.K775I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2667	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	775					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2324A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087250	0.55968	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.27	4.09	0.47781	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.48935	1.535	0.80722	D	1	D;B;D	0.89917	1.0;0.105;0.999	D;P;D	0.91635	0.999;0.544;0.987	T	0.45716	-0.9242	10	0.02654	T	1	.	11.9127	0.52747	0.8543:0.1457:0.0:0.0	.	785;695;775	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	I	775;695;708;706;785	ENSP00000285900:K775I;ENSP00000427920:K695I;ENSP00000427864:K708I;ENSP00000442108:K706I;ENSP00000428994:K785I	ENSP00000285900:K775I	K	+	2	0	GRIA1	153154427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.072000	0.93986	0.928000	0.37168	0.528000	0.53228	AAA		0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			5	51	5	51	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C	rs553089567		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100281226T>C	ENST00000275732.5	-	17	3208	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	667					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGAGTTAATTGGTATGTCC	0.597													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.0					ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1999-2001)Att>Gtt		GRB10 interacting GYF protein 1							138.0	136.0	136.0					7																	100281226		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281226T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1999A>G	7.37:g.100281226T>C	ENSP00000275732:p.Ile667Val						p.I667V	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			17	3208	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		667					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1999A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107235	0.37145	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83075	-1.68	4.05	4.05	0.47172	.	0.383973	0.25416	N	0.030835	T	0.64125	0.2570	N	0.14661	0.345	0.35855	D	0.827047	B	0.31026	0.304	B	0.27500	0.08	T	0.64175	-0.6469	10	0.21540	T	0.41	-1.0625	6.0228	0.19638	0.0:0.115:0.0:0.885	.	667	O75420	PERQ1_HUMAN	V	386;667	ENSP00000275732:I667V	ENSP00000275732:I667V	I	-	1	0	GIGYF1	100119162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.655000	0.37345	1.699000	0.51192	0.260000	0.18958	ATT		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	140	10	140	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:104448995A>C	ENST00000361820.3	-	2	1787	c.1187T>G	c.(1186-1188)gTc>gGc	p.V396G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	396					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGCTCTTGCGACCAGCTCCAT	0.498																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1186-1188)gTc>gGc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						124.0	94.0	104.0					9																	104448995		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448995A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1187T>G	9.37:g.104448995A>C	ENSP00000355155:p.Val396Gly						p.V396G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1787	-		Acute lymphoblastic leukemia(62;0.0568)	396					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1187T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351005	0.82132	.	.	ENSG00000198785	ENST00000361820	D	0.87966	-2.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	L	0.52573	1.65	0.80722	D	1	D	0.55800	0.973	P	0.59948	0.866	D	0.91557	0.5261	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	396	Q8TCU5	NMD3A_HUMAN	G	396	ENSP00000355155:V396G	ENSP00000355155:V396G	V	-	2	0	GRIN3A	103488816	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.229000	0.78088	2.231000	0.72958	0.460000	0.39030	GTC		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			4	80	4	80	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:131765100C>T	ENST00000372577.2	+	37	4163	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1381					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTAGACACCTAGTGCCTCT	0.562																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4141-4143)cCt>cTt		nucleoporin 188kDa							88.0	82.0	84.0					9																	131765100		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765100C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4142C>T	9.37:g.131765100C>T	ENSP00000361658:p.Pro1381Leu						p.P1381L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			37	4163	+			1381					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4142C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134976	0.21123	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30714	1.52	5.93	5.93	0.95920	.	0.259471	0.41500	D	0.000879	T	0.27349	0.0671	L	0.40543	1.245	0.34294	D	0.683585	B;B	0.13594	0.001;0.008	B;B	0.16722	0.001;0.016	T	0.24977	-1.0145	10	0.07813	T	0.8	-20.8526	19.3319	0.94293	0.0:1.0:0.0:0.0	.	714;1381	E9PET9;Q5SRE5	.;NU188_HUMAN	L	1270;1381	ENSP00000361658:P1381L	ENSP00000349125:P1270L	P	+	2	0	NUP188	130804921	0.286000	0.24305	0.957000	0.39632	0.288000	0.27193	3.578000	0.53892	2.815000	0.96918	0.561000	0.74099	CCT		0.562	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			12	45	12	45	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:15590512C>G	ENST00000378076.3	-	27	3175	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	941					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCTCCTCCTTCGAGTCG	0.473																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2821-2823)gGa>gCa		integrin, alpha 8							193.0	157.0	169.0					10																	15590512		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15590512C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2822G>C	10.37:g.15590512C>G	ENSP00000367316:p.Gly941Ala						p.G941A	NM_003638.1	NP_003629	P53708	ITA8_HUMAN			27	3175	-			941					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2822G>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346793	0.61073	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.43688	0.94	5.71	5.71	0.89125	.	0.267720	0.44483	D	0.000449	T	0.40815	0.1132	L	0.54323	1.7	0.35984	D	0.836255	P;P	0.43287	0.802;0.701	B;B	0.40285	0.325;0.174	T	0.45131	-0.9282	10	0.19590	T	0.45	.	16.7697	0.85534	0.0:1.0:0.0:0.0	.	926;941	F5H818;P53708	.;ITA8_HUMAN	A	941;926	ENSP00000367316:G941A	ENSP00000367316:G941A	G	-	2	0	ITGA8	15630518	1.000000	0.71417	0.922000	0.36590	0.782000	0.44232	3.344000	0.52174	2.707000	0.92482	0.637000	0.83480	GGA		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	45	7	45	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:17362963G>T	ENST00000377602.4	-	8	1185	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(1111-1113)Cag>Aag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							258.0	242.0	247.0					10																	17362963		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17362963G>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1111C>A	10.37:g.17362963G>T	ENSP00000366827:p.Gln371Lys						p.Q371K	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	1185	-			371					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.1111C>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365931	0.41902	.	.	ENSG00000148488	ENST00000377602	T	0.28666	1.6	5.5	3.64	0.41730	.	0.273018	0.41605	N	0.000844	T	0.13841	0.0335	N	0.11789	0.175	0.31074	N	0.712739	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	10	0.06236	T	0.91	-3.5386	9.4845	0.38922	0.0:0.6798:0.2304:0.0898	.	371	P61647	SIA8F_HUMAN	K	371	ENSP00000366827:Q371K	ENSP00000366827:Q371K	Q	-	1	0	ST8SIA6	17402969	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	2.690000	0.47001	0.866000	0.35629	0.650000	0.86243	CAG		0.403	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		10	255	10	255	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:76729799T>C	ENST00000287239.4	+	6	1357	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	290					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTTTGTGATTCCTGTGATAG	0.318																																						ENST00000287239.4																			0											c.(868-870)Tcc>Ccc		K(lysine) acetyltransferase 6B							66.0	64.0	65.0					10																	76729799		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76729799T>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.868T>C	10.37:g.76729799T>C	ENSP00000287239:p.Ser290Pro					KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P	p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			6	1357	+			290					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.868T>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156618	0.78114	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000137	D	0.93161	0.7822	M	0.85299	2.745	0.40205	D	0.977567	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.94337	0.7567	10	0.87932	D	0	-9.2128	16.5932	0.84781	0.0:0.0:0.0:1.0	.	290;290;290	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	P	290	ENSP00000361810:S290P;ENSP00000361809:S290P;ENSP00000287239:S290P;ENSP00000361799:S290P;ENSP00000361796:S290P	ENSP00000287239:S290P	S	+	1	0	KAT6B	76399805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	TCC		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	43	6	43	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1271277	1271277	+	Silent	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1271277C>G	ENST00000529681.1	+	31	13225	c.13167C>G	c.(13165-13167)acC>acG	p.T4389T	MUC5B_ENST00000447027.1_Silent_p.T4392T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4389	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13174-13176)acC>acG		mucin 5B, oligomeric mucus/gel-forming							77.0	92.0	87.0					11																	1271277		2043	4185	6228	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271277C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13167C>G	11.37:g.1271277C>G						MUC5B_ENST00000529681.1_Silent_p.T4389T	p.T4392T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13234	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4389			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13176C>G	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	102	4	102	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A	rs577643505		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:55587532G>A	ENST00000333976.4	+	1	447	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468													N|||	1	0.000199681	0.0	0.0	5008	,	,		17858	0.001		0.0	False		,,,				2504	0.0					ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(427-429)Gtg>Atg		olfactory receptor, family 5, subfamily D, member 18							183.0	173.0	176.0					11																	55587532		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587532G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.427G>A	11.37:g.55587532G>A	ENSP00000335025:p.Val143Met						p.V143M	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	447	+		all_epithelial(135;0.208)	143					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.427G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.265	-0.614747	0.03663	.	.	ENSG00000186119	ENST00000333976	T	0.38887	1.11	4.66	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	1.093960	0.07162	N	0.850821	T	0.24470	0.0593	L	0.32530	0.975	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.23261	-1.0193	10	0.30078	T	0.28	-0.4402	0.4872	0.00558	0.3445:0.1336:0.2897:0.2322	.	143	Q8NGL1	OR5DI_HUMAN	M	143	ENSP00000335025:V143M	ENSP00000335025:V143M	V	+	1	0	OR5D18	55344108	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.735000	0.00101	-0.256000	0.09473	-0.289000	0.09944	GTG		0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	124	32	124	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1404	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGCTAGGTGGCTTGTTTACA	0.403																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4210-4212)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							205.0	159.0	175.0					12																	43819391		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43819391G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4210C>A	12.37:g.43819391G>T	ENSP00000374071:p.Pro1404Thr					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	28	4209	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1404			TSP type-1 10.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4210C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233557	0.79688	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.71	4.71	0.59529	.	0.127995	0.35235	N	0.003345	D	0.86957	0.6058	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91803	0.5453	10	0.87932	D	0	.	18.5834	0.91180	0.0:0.0:1.0:0.0	.	1404;522	P59510;E9PBD5	ATS20_HUMAN;.	T	1404;534;522;1404;1404	ENSP00000374071:P1404T;ENSP00000447427:P534T;ENSP00000378911:P522T;ENSP00000448341:P1404T	ENSP00000374068:P1404T	P	-	1	0	ADAMTS20	42105658	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.174000	0.94824	2.546000	0.85860	0.650000	0.86243	CCA		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	21	6	21	---	---	---	---
SHISA2	387914	broad.mit.edu	37	13	26620948	26620948	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:26620948C>T	ENST00000319420.3	-	2	646	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	197					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTGTTGGGGGCGCCCGGGCCC	0.612																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(589-591)gcG>gcA		shisa family member 2							88.0	94.0	92.0					13																	26620948		2203	4300	6503	SO:0001819	synonymous_variant	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620948C>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.591G>A	13.37:g.26620948C>T							p.A197A	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	646	-			197					B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	c.591G>A	CCDS31951.1																																																																																				0.612	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		7	105	7	105	---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:45533530A>C	ENST00000379161.4	-	7	1053	c.1007T>G	c.(1006-1008)aTa>aGa	p.I336R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	336					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATCACTGTTTATCAAAACACC	0.403																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1006-1008)aTa>aGa		nuclear fragile X mental retardation protein interacting protein 1							152.0	139.0	144.0					13																	45533530		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533530A>C	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1007T>G	13.37:g.45533530A>C	ENSP00000368459:p.Ile336Arg						p.I336R	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	1053	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	336					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1007T>G	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572968	0.28092	.	.	ENSG00000083635	ENST00000379161	T	0.46063	0.88	5.11	2.96	0.34315	.	0.692620	0.14055	N	0.344462	T	0.26122	0.0637	L	0.34521	1.04	0.26811	N	0.968994	B	0.29909	0.261	B	0.26517	0.07	T	0.17623	-1.0363	10	0.22109	T	0.4	-1.1823	4.6076	0.12385	0.5074:0.0:0.4926:0.0	.	336	Q9UHK0	NUFP1_HUMAN	R	336	ENSP00000368459:I336R	ENSP00000368459:I336R	I	-	2	0	NUFIP1	44431530	0.935000	0.31712	0.044000	0.18714	0.876000	0.50452	1.726000	0.38085	0.395000	0.25257	0.519000	0.50382	ATA		0.403	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		35	66	35	66	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	54					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGTGAATGGTATAGAGAAA	0.413																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(160-162)gGt>gTt		suppressor of cytokine signaling 4							158.0	148.0	151.0					14																	55509920		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509920G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.161G>T	14.37:g.55509920G>T	ENSP00000378855:p.Gly54Val					SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	493	+			54						Missense_Mutation	SNP	ENST00000395472.2	37	c.161G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.384390	0.01194	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32753	1.44;1.44;1.44	5.22	2.46	0.29980	.	1.495460	0.04085	N	0.310331	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21042	-1.0257	10	0.51188	T	0.08	0.0	2.2154	0.03958	0.138:0.5115:0.1381:0.2124	.	54	Q8WXH5	SOCS4_HUMAN	V	54	ENSP00000378855:G54V;ENSP00000452522:G54V;ENSP00000341327:G54V	ENSP00000341327:G54V	G	+	2	0	SOCS4	54579673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	0.378000	0.24764	-0.823000	0.03104	GGT		0.413	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			23	68	23	68	---	---	---	---
TIMM13	26517	broad.mit.edu	37	19	2427323	2427323	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		TIMM13_ENST00000591871.1_Splice_Site|LMNB2_ENST00000475819.1_5'Flank	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCATCCTCTGTGGAGACA	0.687																																						ENST00000215570.3																			0				endometrium(1)|prostate(1)	2						c.e2-1		translocase of inner mitochondrial membrane 13 homolog (yeast)							72.0	82.0	79.0					19																	2427323		2203	4300	6503	SO:0001630	splice_region_variant	26517				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	g.chr19:2427323C>A	AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"""translocase of inner mitochondrial membrane 13 (yeast) homolog B"""	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.121-1G>T	19.37:g.2427323C>A						TIMM13_ENST00000591871.1_Splice_Site		NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	481	-		Hepatocellular(1079;0.137)						P62206|Q9UHL8|Q9WTL1	Splice_Site	SNP	ENST00000215570.3	37		CCDS12089.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993091	0.74703	.	.	ENSG00000099800	ENST00000215570	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6229	0.56614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIMM13	2378323	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.731000	0.74785	1.886000	0.54624	0.436000	0.28706	.		0.687	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451333.1		Intron	12	149	12	149	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10096993T>A	ENST00000264828.3	-	30	2435	c.2350A>T	c.(2350-2352)Aag>Tag	p.K784*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	784	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATTTACCTTCTCCCCAGCT	0.632																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2350-2352)Aag>Tag		collagen, type V, alpha 3							36.0	40.0	39.0					19																	10096993		2202	4299	6501	SO:0001587	stop_gained	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10096993T>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2350A>T	19.37:g.10096993T>A	ENSP00000264828:p.Lys784*						p.K784*	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2435	-			784			Triple-helical region.		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	c.2350A>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	39	7.610517	0.98387	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0391	0.53442	0.0:0.0:0.0:1.0	.	.	.	.	X	784	.	ENSP00000264828:K784X	K	-	1	0	COL5A3	9957993	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.444000	0.66587	1.783000	0.52377	0.379000	0.24179	AAG		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	24	9	24	---	---	---	---
ICAM4	3386	broad.mit.edu	37	19	10398384	10398384	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10398384C>T	ENST00000380770.3	+	2	613	c.567C>T	c.(565-567)gcC>gcT	p.A189A	ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000393717.2_Silent_p.A189A|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Nonsense_Mutation_p.Q164*	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	189	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGATCTGGCCAACGTGACCT	0.637																																						ENST00000340992.4																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(490-492)Caa>Taa		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							78.0	65.0	70.0					19																	10398384		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398384C>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.567C>T	19.37:g.10398384C>T						CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.A189A|ICAM4_ENST00000393717.2_Silent_p.A189A	p.Q164*	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	529	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Nonsense_Mutation	SNP	ENST00000380770.3	37	c.490C>T	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111359	0.56398	.	.	ENSG00000105371	ENST00000340992	.	.	.	4.53	2.35	0.29111	.	1.527110	0.04436	U	0.370013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.8953	5.6825	0.17784	0.0:0.6859:0.2002:0.1139	.	.	.	.	X	164	.	ENSP00000342114:Q164X	Q	+	1	0	ICAM4	10259384	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	1.406000	0.34646	0.332000	0.23536	0.462000	0.41574	CAA		0.637	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		4	52	4	52	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662943	99662943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:99662943C>T	ENST00000373034.4	-	1	2328	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H|PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTGCCCAGGCGCGGCGGGTC	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(652-654)cGc>cAc		protocadherin 19							75.0	80.0	78.0					X																	99662943		2167	4246	6413	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662943C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.653G>A	X.37:g.99662943C>T	ENSP00000362125:p.Arg218His					PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2328	-			218			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.653G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086168	0.20390	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55052	0.54;0.54;0.54	5.98	3.67	0.42095	Cadherin (4);Cadherin-like (1);	0.247414	0.47852	N	0.000208	T	0.66665	0.2812	M	0.78285	2.405	0.09310	N	0.999993	B;D;D	0.60160	0.001;0.984;0.987	B;P;D	0.63283	0.002;0.859;0.913	T	0.58126	-0.7691	10	0.49607	T	0.09	.	8.7514	0.34618	0.0:0.2182:0.0:0.7818	.	218;218;218	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	218	ENSP00000400327:R218H;ENSP00000362125:R218H;ENSP00000255531:R218H	ENSP00000255531:R218H	R	-	2	0	PCDH19	99549599	0.863000	0.29885	0.079000	0.20413	0.182000	0.23217	1.147000	0.31602	0.871000	0.35750	-0.498000	0.04607	CGC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		24	39	24	39	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:40342400delC	ENST00000403092.1	-	11	2948	c.2915delG	c.(2914-2916)ggcfs	p.G972fs	SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	972					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTTAGAAGCCTTTTATGTG	0.398																																						ENST00000406785.2																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2806-2808)ggcfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						29.0	33.0	32.0					2																	40342400		2202	4300	6502	SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342400delC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2915delG	2.37:g.40342400delC	ENSP00000384763:p.Gly972fs					SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA	p.G936fs			P32418	NAC1_HUMAN			8	2996	-								A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	c.2807delG	CCDS1806.1																																																																																				0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		25	41	25	41	---	---	---	---
