#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
CLCNKA	1187	broad.mit.edu	37	1	16355293	16355293	+	Missense_Mutation	SNP	G	G	A	rs369364364		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:16355293G>A	ENST00000331433.4	+	11	1025	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CLCNKA_ENST00000420078.1_Missense_Mutation_p.A336T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A293T|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A336T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	336					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGCTTCTCGCCTCCATCAC	0.632																																						uc001axu.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1006-1008)Gcc>Acc		Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	Niflumic Acid(DB04552)	G	THR/ALA,THR/ALA	0,4406		0,0,2203	194.0	141.0	159.0		1006,1006	3.4	0.9	1		159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	336/687,336/688	16355293	2,13004	2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16355293G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1006G>A	1.37:g.16355293G>A	ENSP00000332771:p.Ala336Thr					CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A293T|CLCNKA_uc001axv.3_Missense_Mutation_p.A336T|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H|CLCNKA_uc021ogl.1_5'Flank	p.A336T	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1086	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	336					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1006G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424063	0.62733	0.0	2.33E-4	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	3.37	3.37	0.38596	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.71036	2.16	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.996	D	0.95442	0.8526	10	0.56958	D	0.05	.	9.7591	0.40522	0.0:0.0:0.7934:0.2066	.	293;336;336	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	T	336;336;293;336	ENSP00000364844:A336T;ENSP00000410353:A336T;ENSP00000414445:A293T;ENSP00000332771:A336T	ENSP00000332771:A336T	A	+	1	0	CLCNKA	16227880	1.000000	0.71417	0.876000	0.34364	0.446000	0.32137	3.272000	0.51616	1.885000	0.54596	0.313000	0.20887	GCC		0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1		
LRRC7	57554	broad.mit.edu	37	1	70503971	70503971	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:70503971A>G	ENST00000035383.5	+	19	2380	c.2350A>G	c.(2350-2352)Acc>Gcc	p.T784A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T789A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T68A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	784						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCTGAGGAAACCACAGCCGA	0.488																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2350-2352)Acc>Gcc		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							151.0	133.0	139.0					1																	70503971		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503971A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2350A>G	1.37:g.70503971A>G	ENSP00000035383:p.Thr784Ala					LRRC7_uc009wbg.3_Missense_Mutation_p.T68A|LRRC7_uc001deq.3_Missense_Mutation_p.T25A	p.T784A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	2380	+			784					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2350A>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.006791	0.00426	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.35421	1.31;1.39;2.49	5.68	-7.27	0.01461	.	0.585459	0.18741	N	0.132457	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28808	-1.0032	10	0.07175	T	0.84	.	10.1245	0.42641	0.3862:0.1074:0.5064:0.0	.	68;784;784	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	789;784;68;607	ENSP00000309245:T789A;ENSP00000035383:T784A;ENSP00000394867:T68A	ENSP00000035383:T784A	T	+	1	0	LRRC7	70276559	0.248000	0.23930	0.000000	0.03702	0.057000	0.15508	0.273000	0.18662	-1.744000	0.01338	-0.621000	0.04028	ACC		0.488	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
MCOLN3	55283	broad.mit.edu	37	1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	rs144793042	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:85499910C>T	ENST00000370589.2	-	4	473	c.421G>A	c.(421-423)Gtt>Att	p.V141I	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V141I|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V85I	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0					uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(421-423)Gtt>Att		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.		C	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	128.0	110.0	116.0		421	3.9	0.4	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense	MCOLN3	NM_018298.9	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	141/554	85499910	8,12998	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85499910C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.421G>A	1.37:g.85499910C>T	ENSP00000359621:p.Val141Ile					MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	p.V141I	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	568	-			141					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.421G>A	CCDS701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.63	1.405559	0.25378	0.001816	0.0	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59906	0.23;0.23;0.23	5.86	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.39147	1.195	0.31994	N	0.604203	P;D;D	0.57257	0.911;0.979;0.965	B;P;B	0.44772	0.369;0.46;0.271	T	0.08269	-1.0730	10	0.13853	T	0.58	2.7027	11.2681	0.49122	0.126:0.8075:0.0:0.0664	.	141;85;141	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	I	141;141;85;85;141	ENSP00000359621:V141I;ENSP00000342698:V85I;ENSP00000359619:V141I	ENSP00000304843:V141I	V	-	1	0	MCOLN3	85272498	0.181000	0.23161	0.397000	0.26308	0.107000	0.19398	0.771000	0.26633	1.441000	0.47550	0.655000	0.94253	GTT		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
RPL5	6125	broad.mit.edu	37	1	93301746	93301746	+	Splice_Site	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:93301746G>C	ENST00000370321.3	+	5	414		c.e5-1		SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTCTTGAATAGCTTCTCAATA	0.398																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.e5-1		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							122.0	129.0	126.0					1																	93301746		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301746G>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.325-1G>C	1.37:g.93301746G>C						FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Intron|RPL5_uc001dpb.3_Splice_Site_p.L59_splice|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	p.L109_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	403	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	109					Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.325_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990231	0.35131	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5435	0.87854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93074334	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	9.706000	0.98722	2.107000	0.64212	0.460000	0.39030	.		0.398	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron
MAB21L3	126868	broad.mit.edu	37	1	116675825	116675825	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:116675825C>T	ENST00000369500.3	+	7	1193	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	310										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGCATTTCTGCGCCTGGTGAG	0.507																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(928-930)Cgc>Tgc		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.							78.0	67.0	71.0					1																	116675825		2203	4300	6503	SO:0001583	missense	126868							g.chr1:116675825C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.928C>T	1.37:g.116675825C>T	ENSP00000358512:p.Arg310Cys						p.R310C	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			6	1193	+			310					Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	c.928C>T	CCDS886.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298572	0.60195	.	.	ENSG00000173212	ENST00000369500	T	0.09073	3.02	5.57	4.59	0.56863	.	0.095117	0.41823	D	0.000807	T	0.07818	0.0196	M	0.81682	2.555	0.80722	D	1	P	0.48294	0.908	B	0.38428	0.273	T	0.06516	-1.0822	10	0.54805	T	0.06	-5.3588	14.9938	0.71415	0.2122:0.7878:0.0:0.0	.	310	Q8N8X9	MB213_HUMAN	C	310	ENSP00000358512:R310C	ENSP00000358512:R310C	R	+	1	0	MAB21L3	116477348	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.238000	0.51352	2.780000	0.95670	0.655000	0.94253	CGC		0.507	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367	
ADAMTSL4	54507	broad.mit.edu	37	1	150530514	150530514	+	Silent	SNP	T	T	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:150530514T>G	ENST00000369038.2	+	12	2472	c.2271T>G	c.(2269-2271)ggT>ggG	p.G757G	ADAMTSL4_ENST00000369041.5_Silent_p.G757G|ADAMTSL4_ENST00000369039.5_Silent_p.G780G|ADAMTSL4_ENST00000271643.4_Silent_p.G757G|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	757	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGGGGGGTGGCTCCTCGG	0.692																																						uc009wlw.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2338-2340)ggT>ggG		Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.							44.0	50.0	48.0					1																	150530514		2185	4259	6444	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530514T>G	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2271T>G	1.37:g.150530514T>G						ADAMTSL4_uc001euw.3_Silent_p.G757G|ADAMTSL4_uc001eux.3_Silent_p.G757G|ADAMTSL4_uc010pcg.2_Silent_p.G718G|ADAMTSL4_uc009wlx.3_5'UTR	p.G780G	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		13	2498	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		757			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.2340T>G	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
FLG	2312	broad.mit.edu	37	1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	rs148844389	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:152283083C>T	ENST00000368799.1	-	3	4314	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1427	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4279-4281)Gca>Aca		Homo sapiens filaggrin (FLG), mRNA.		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	203.0	204.0	203.0		4279	-6.3	0.0	1	dbSNP_134	203	7,8593	5.7+/-21.5	0,7,4293	no	missense	FLG	NM_002016.1	58	0,9,6494	TT,TC,CC		0.0814,0.0454,0.0692	benign	1427/4062	152283083	9,12997	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283083C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4279G>A	1.37:g.152283083C>T	ENSP00000357789:p.Ala1427Thr					AK056431_uc001ezv.3_5'Flank	p.A1427T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1427			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4279G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112200	0.08831	4.54E-4	8.14E-4	ENSG00000143631	ENST00000368799	T	0.01335	5.0	3.16	-6.31	0.02001	.	.	.	.	.	T	0.00178	0.0005	N	0.12637	0.245	0.09310	N	1	B	0.21905	0.062	B	0.08055	0.003	T	0.46911	-0.9157	9	0.02654	T	1	.	4.7267	0.12945	0.2301:0.3697:0.0:0.4002	.	1427	P20930	FILA_HUMAN	T	1427	ENSP00000357789:A1427T	ENSP00000357789:A1427T	A	-	1	0	FLG	150549707	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.753000	0.01818	-2.604000	0.00449	-0.222000	0.12452	GCA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
F5	2153	broad.mit.edu	37	1	169510563	169510563	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:169510563C>G	ENST00000367797.3	-	13	3966	c.3765G>C	c.(3763-3765)caG>caC	p.Q1255H	F5_ENST00000367796.3_Missense_Mutation_p.Q1260H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1255	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGAGGTTTGTCTGGCTGAGGT	0.522																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3763-3765)caG>caC		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						201.0	220.0	214.0					1																	169510563		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510563C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3765G>C	1.37:g.169510563C>G	ENSP00000356771:p.Gln1255His						p.Q1255H	NM_000130	NP_000121	P12259	FA5_HUMAN			12	3910	-	all_hematologic(923;0.208)		1255			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3765G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	2.119	-0.401795	0.04865	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36699	1.24;1.24	4.24	-5.41	0.02648	.	.	.	.	.	T	0.08088	0.0202	L	0.51914	1.62	0.21897	N	0.999484	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	8	0.26408	T	0.33	.	2.1298	0.03748	0.1887:0.363:0.0923:0.3559	.	1255	P12259	FA5_HUMAN	H	1255;1260	ENSP00000356771:Q1255H;ENSP00000356770:Q1260H	ENSP00000356770:Q1260H	Q	-	3	2	F5	167777187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.593000	0.00420	-1.595000	0.01613	-4.787000	0.00003	CAG		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
OBSCN	84033	broad.mit.edu	37	1	228467603	228467603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:228467603G>A	ENST00000422127.1	+	28	7522	c.7478G>A	c.(7477-7479)cGg>cAg	p.R2493Q	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1340Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2922Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2493Q|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2493	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGACTTCCGGCCAGCCCCC	0.622																																						uc009xez.1																			0		p.R2493L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7477-7479)cGg>cAg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							23.0	28.0	26.0					1																	228467603		2116	4228	6344	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467603G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7478G>A	1.37:g.228467603G>A	ENSP00000409493:p.Arg2493Gln					OBSCN_uc001hsn.3_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	p.R2493Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			27	7522	+		Prostate(94;0.0405)	2493			Ig-like 24.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7478G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.052100	0.36181	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.66638	-0.22;-0.22;-0.22	5.01	1.25	0.21368	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443096	0.23100	N	0.051936	T	0.51702	0.1690	N	0.16016	0.355	0.19775	N	0.99996	D;P;D	0.63880	0.966;0.813;0.993	P;B;P	0.50590	0.489;0.091;0.645	T	0.46925	-0.9156	10	0.25106	T	0.35	.	8.7628	0.34685	0.5285:0.0:0.4715:0.0	.	2493;2493;2493	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	Q	2493;2493;1340;192	ENSP00000284548:R2493Q;ENSP00000409493:R2493Q;ENSP00000352613:R1340Q	ENSP00000284548:R2493Q	R	+	2	0	OBSCN	226534226	0.945000	0.32115	0.981000	0.43875	0.857000	0.48899	0.378000	0.20569	0.406000	0.25560	0.550000	0.68814	CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
RYR2	6262	broad.mit.edu	37	1	237924281	237924281	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:237924281G>A	ENST00000366574.2	+	84	11746	c.11429G>A	c.(11428-11430)cGa>cAa	p.R3810Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R3794Q|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3816Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3810					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATTTGAGCGACAAAACAAA	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11428-11430)cGa>cAa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							106.0	99.0	101.0					1																	237924281		1865	4103	5968	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237924281G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11429G>A	1.37:g.237924281G>A	ENSP00000355533:p.Arg3810Gln					RYR2_uc010pya.2_Missense_Mutation_p.R225Q	p.R3810Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3810					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11429G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.739929	0.96873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.92397	-3.03;-3.03;-3.03	5.84	5.84	0.93424	.	0.000000	0.53938	U	0.000047	D	0.95611	0.8573	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67900	0.929;0.954	D	0.95465	0.8546	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	784;3810	B4DGV4;Q92736	.;RYR2_HUMAN	Q	3810;3816;3794;784	ENSP00000355533:R3810Q;ENSP00000353174:R3816Q;ENSP00000443798:R3794Q	ENSP00000353174:R3816Q	R	+	2	0	RYR2	235990904	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.537000	0.98070	2.767000	0.95098	0.591000	0.81541	CGA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ARHGAP21	57584	broad.mit.edu	37	10	24889768	24889768	+	Missense_Mutation	SNP	G	G	C	rs530533376	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:24889768G>C	ENST00000396432.2	-	14	3425	c.2939C>G	c.(2938-2940)aCg>aGg	p.T980R	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T767R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	979	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGACGGAGTCGTCTGCTCTCT	0.453																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2938-2940)aCg>aGg		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							76.0	78.0	77.0					10																	24889768		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889768G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2939C>G	10.37:g.24889768G>C	ENSP00000379709:p.Thr980Arg					ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	p.T980R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			13	3426	-			979			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2939C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890050	0.33348	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	-3.05	0.05396	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.973128	0.08523	N	0.933113	T	0.60547	0.2277	N	0.05124	-0.11	0.09310	N	1	B;B	0.31318	0.273;0.319	B;B	0.43575	0.094;0.424	T	0.54984	-0.8211	10	0.20046	T	0.44	.	13.8972	0.63781	0.6588:0.0:0.3412:0.0	.	970;979	F8W9U9;Q5T5U3	.;RHG21_HUMAN	R	980;767;970;980;815	ENSP00000379709:T980R;ENSP00000365604:T767R;ENSP00000365592:T970R;ENSP00000405018:T980R	ENSP00000365604:T767R	T	-	2	0	ARHGAP21	24929774	0.000000	0.05858	0.002000	0.10522	0.507000	0.33981	-0.248000	0.08854	-0.615000	0.05679	-0.136000	0.14681	ACG		0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
APBB1IP	54518	broad.mit.edu	37	10	26825105	26825105	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:26825105C>T	ENST00000376236.4	+	10	1458	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	335	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R335W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTCTTTTACGGGCTTCTGG	0.338																																						uc001iss.3																			1	Substitution - Missense(1)	p.R335W(2)|p.R335L(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1003-1005)Cgg>Tgg		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.							99.0	117.0	110.0					10																	26825105		2202	4298	6500	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825105C>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1003C>T	10.37:g.26825105C>T	ENSP00000365411:p.Arg335Trp					APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	p.R335W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			9	1324	+			335			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1003C>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147521	0.77888	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.77358	-1.09	5.93	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90622	0.4560	10	0.87932	D	0	.	16.0766	0.80971	0.1388:0.8612:0.0:0.0	.	335;335	B4E100;Q7Z5R6	.;AB1IP_HUMAN	W	335	ENSP00000365411:R335W	ENSP00000365411:R335W	R	+	1	2	APBB1IP	26865111	0.918000	0.31147	0.994000	0.49952	0.998000	0.95712	1.994000	0.40757	1.455000	0.47813	0.655000	0.94253	CGG		0.338	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
ANK3	288	broad.mit.edu	37	10	61829891	61829891	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:61829891G>A	ENST00000280772.2	-	37	10939	c.10748C>T	c.(10747-10749)aCg>aTg	p.T3583M	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3583					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3583M(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGCTGGCGTTGTATCAGG	0.488																																						uc001jky.3																			1	Substitution - Missense(1)	p.T3583M(2)|p.T3583T(1)	pancreas(1)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10747-10749)aCg>aTg		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							135.0	126.0	129.0					10																	61829891		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829891G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10748C>T	10.37:g.61829891G>A	ENSP00000280772:p.Thr3583Met					ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.T3583M	NM_020987	NP_066267	Q12955	ANK3_HUMAN			36	11086	-			3583					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10748C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666397	0.67814	.	.	ENSG00000151150	ENST00000280772	T	0.17528	2.27	5.77	5.77	0.91146	.	0.000000	0.43416	D	0.000572	T	0.39937	0.1097	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.06320	-1.0833	10	0.87932	D	0	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	3583	Q12955	ANK3_HUMAN	M	3583	ENSP00000280772:T3583M	ENSP00000280772:T3583M	T	-	2	0	ANK3	61499897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	ACG		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
OR5M3	219482	broad.mit.edu	37	11	56237372	56237372	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56237372G>A	ENST00000312240.2	-	1	642	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTTAATGCCGGCAAGTATGAT	0.413																																						uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(601-603)gCc>gTc		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.							128.0	124.0	126.0					11																	56237372		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237372G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.602C>T	11.37:g.56237372G>A	ENSP00000312208:p.Ala201Val					OR8U8_uc001nit.2_Intron	p.A201V	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	643	-	Esophageal squamous(21;0.00448)		201					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.602C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390473	0.25118	.	.	ENSG00000174937	ENST00000312240	T	0.37915	1.17	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000386	T	0.55162	0.1903	M	0.67517	2.055	0.09310	N	1	P	0.46912	0.886	P	0.60682	0.878	T	0.48536	-0.9027	10	0.32370	T	0.25	-13.3566	15.9666	0.79979	0.0:0.0:1.0:0.0	.	201	Q8NGP4	OR5M3_HUMAN	V	201	ENSP00000312208:A201V	ENSP00000312208:A201V	A	-	2	0	OR5M3	55993948	0.000000	0.05858	0.048000	0.18961	0.006000	0.05464	0.367000	0.20382	2.341000	0.79615	0.549000	0.68633	GCC		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
OR9G4	283189	broad.mit.edu	37	11	56510792	56510792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56510792C>A	ENST00000302957.3	-	1	495	c.496G>T	c.(496-498)Gga>Tga	p.G166*		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAAATCCTCCTATGTAGGAG	0.453																																						uc010rjo.2																			0		p.I165T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(496-498)Gga>Tga		Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.							82.0	85.0	84.0					11																	56510792		2201	4296	6497	SO:0001587	stop_gained	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510792C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.496G>T	11.37:g.56510792C>A	ENSP00000307515:p.Gly166*						p.G166*	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			0	496	-			166					Q6IF62|Q96RA9	Nonsense_Mutation	SNP	ENST00000302957.3	37	c.496G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581005	0.28180	.	.	ENSG00000172457	ENST00000302957	.	.	.	5.07	4.16	0.48862	.	0.000000	0.38897	N	0.001528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-8.8222	7.0668	0.25157	0.0:0.7346:0.1753:0.0901	.	.	.	.	X	166	.	ENSP00000307515:G166X	G	-	1	0	OR9G4	56267368	0.000000	0.05858	0.328000	0.25416	0.336000	0.28762	0.040000	0.13905	1.356000	0.45884	0.643000	0.83706	GGA		0.453	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
HNRNPUL2	221092	broad.mit.edu	37	11	62490074	62490074	+	Splice_Site	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:62490074G>A	ENST00000301785.5	-	6	1286	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	HNRNPUL2-BSCL2_ENST00000403734.2_Splice_Site_p.A365V	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	365	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACTTACAGCAAAGCAGCC	0.458																																						uc001nuw.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.e6+1		Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.							103.0	95.0	98.0					11																	62490074		1945	4140	6085	SO:0001630	splice_region_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490074G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1095+1C>T	11.37:g.62490074G>A						HNRNPUL2_uc001nuu.2_Splice_Site	p.A365_splice	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			6	1324	-			365			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1095_splice	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523273	0.64747	.	.	ENSG00000214753	ENST00000301785	T	0.71698	-0.59	5.11	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.059215	0.64402	D	0.000003	T	0.47691	0.1459	N	0.02225	-0.63	0.45762	D	0.998653	B	0.20550	0.046	B	0.32724	0.151	T	0.39210	-0.9625	10	0.17832	T	0.49	-9.6721	13.254	0.60068	0.0:0.1605:0.8395:0.0	.	365	Q1KMD3	HNRL2_HUMAN	V	365	ENSP00000301785:A365V	ENSP00000301785:A365V	A	-	2	0	HNRNPUL2	62246650	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.924000	0.70054	1.323000	0.45263	0.650000	0.86243	GCT		0.458	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	Missense_Mutation
KLC2	64837	broad.mit.edu	37	11	66033175	66033175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:66033175C>T	ENST00000417856.1	+	12	1627	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Nonsense_Mutation_p.Q385*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.Q462*|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Nonsense_Mutation_p.Q385*|RP11-867G23.2_ENST00000533287.1_RNA|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Nonsense_Mutation_p.Q323*|KLC2_ENST00000316924.5_Nonsense_Mutation_p.Q462*|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	462					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATACCGGCGCCAGGGCAAGCT	0.647																																						uc010rov.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1384-1386)Cag>Tag		Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.							31.0	31.0	31.0					11																	66033175		2200	4295	6495	SO:0001587	stop_gained	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033175C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1384C>T	11.37:g.66033175C>T	ENSP00000399403:p.Gln462*					KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.3_5'Flank	p.Q462*	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN			11	1627	+			462					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP	ENST00000417856.1	37	c.1384C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	39	7.428508	0.98279	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.6272	14.7292	0.69368	0.0:1.0:0.0:0.0	.	.	.	.	X	462;462;462;385;385;323	.	ENSP00000314837:Q462X	Q	+	1	0	KLC2	65789751	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.290000	0.78711	2.010000	0.58986	0.491000	0.48974	CAG		0.647	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	
CHORDC1	26973	broad.mit.edu	37	11	89951306	89951306	+	Silent	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:89951306T>C	ENST00000320585.6	-	2	520	c.111A>G	c.(109-111)ttA>ttG	p.L37L	CHORDC1_ENST00000457199.2_Silent_p.L37L|CHORDC1_ENST00000530765.1_Silent_p.L37L	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	37	CHORD 1. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Interaction with PPP5C. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCTACCTTTAATGCATCGT	0.313																																						uc001pdg.2																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(109-111)ttA>ttG		Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.							44.0	43.0	43.0					11																	89951306		2201	4298	6499	SO:0001819	synonymous_variant	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89951306T>C	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.111A>G	11.37:g.89951306T>C						CHORDC1_uc009yvz.2_Silent_p.L37L	p.L37L	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			1	521	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	37			CHORD 1.|Interaction with PPP5C (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Silent	SNP	ENST00000320585.6	37	c.111A>G	CCDS8289.1																																																																																				0.313	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124	
KLRK1	22914	broad.mit.edu	37	12	10525755	10525755	+	Silent	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:10525755A>G	ENST00000240618.6	-	8	749	c.609T>C	c.(607-609)tgT>tgC	p.C203C	KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Silent_p.C203C|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	203	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTGGAGTTGAACAGTTTTCTA	0.388																																						uc009zhj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						c.(607-609)tgT>tgC		Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.							189.0	165.0	173.0					12																	10525755		2203	4300	6503	SO:0001819	synonymous_variant	22914				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	g.chr12:10525755A>G	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.609T>C	12.37:g.10525755A>G						AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.C203C|KLRK1_uc009zhk.3_Silent_p.C203C|KLRK1_uc001qyd.3_Silent_p.C203C	p.C203C	NM_007360	NP_001186734	P26718	NKG2D_HUMAN			7	786	-			203			C-type lectin.		A8K7K5|A8K7P4|Q9NR41	Silent	SNP	ENST00000240618.6	37	c.609T>C	CCDS8623.1																																																																																				0.388	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
PRB4	5545	broad.mit.edu	37	12	11461583	11461583	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:11461583C>G	ENST00000535904.1	-	3	367	c.334G>C	c.(334-336)Ggt>Cgt	p.G112R	PRB4_ENST00000279575.1_Missense_Mutation_p.G112R|PRB4_ENST00000445719.2_Splice_Site_p.G112R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	133	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGGTACCTTGGGACTGG	0.607										HNSCC(22;0.051)																												uc001qzf.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(334-336)Ggt>Cgt		Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.							147.0	157.0	153.0					12																	11461583		2202	4299	6501	SO:0001583	missense	5545					extracellular region		g.chr12:11461583C>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.334G>C	12.37:g.11461583C>G	ENSP00000442834:p.Gly112Arg	HNSCC(22;0.051)				PRB4_uc001qzt.3_Missense_Mutation_p.G112R	p.G112R	NM_002723	NP_002714	P10163	PRB4_HUMAN			2	368	-			154			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.334G>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	4.465	0.086165	0.08583	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.07688	3.62;3.62;3.17	0.458	-0.917	0.10485	.	.	.	.	.	T	0.13670	0.0331	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.15492	-1.0435	8	0.49607	T	0.09	.	.	.	.	.	112	E9PAL0	.	R	112	ENSP00000279575:G112R;ENSP00000442834:G112R;ENSP00000412740:G112R	ENSP00000279575:G112R	G	-	1	0	PRB4	11352850	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.507000	0.00961	-0.639000	0.05502	0.197000	0.17608	GGT;GGT;GGA		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												uc001qzf.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_uc001qzt.3_Missense_Mutation_p.S110P	p.S110P	NM_002723	NP_002714	P10163	PRB4_HUMAN			2	362	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
PIK3C2G	5288	broad.mit.edu	37	12	18552608	18552608	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:18552608G>C	ENST00000266497.5	+	14	2057	c.2019G>C	c.(2017-2019)aaG>aaC	p.K673N	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.K673N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.K714N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	673	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGAAGAAAAGAAAAGATATT	0.378																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2017-2019)aaG>aaC		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							73.0	73.0	73.0					12																	18552608		1807	4073	5880	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552608G>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2019G>C	12.37:g.18552608G>C	ENSP00000266497:p.Lys673Asn					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.2_Missense_Mutation_p.K492N	p.K673N	NM_004570	NP_004561	O75747	P3C2G_HUMAN			14	2135	+		Hepatocellular(102;0.194)	673					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2019G>C	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007416	0.54361	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.63417	-0.04;-0.04;-0.04	5.03	4.09	0.47781	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.145221	0.45606	D	0.000345	T	0.56046	0.1959	L	0.43152	1.355	0.36280	D	0.855748	P;P;P	0.48589	0.912;0.893;0.849	P;B;P	0.45406	0.479;0.347;0.479	T	0.67086	-0.5759	10	0.72032	D	0.01	-20.3523	9.9482	0.41623	0.0:0.1489:0.6969:0.1541	.	713;714;673	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	673;673;714	ENSP00000404845:K673N;ENSP00000266497:K673N;ENSP00000445381:K714N	ENSP00000266497:K673N	K	+	3	2	PIK3C2G	18443875	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.317000	0.51968	2.616000	0.88540	0.585000	0.79938	AAG		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
OR6C74	254783	broad.mit.edu	37	12	55641790	55641790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:55641790C>T	ENST00000343870.4	+	1	809	c.719C>T	c.(718-720)tCt>tTt	p.S240F		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACATGTTCTTCCCACATG	0.373																																						uc010spg.2																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(718-720)tCt>tTt		Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.							86.0	87.0	87.0					12																	55641790		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641790C>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.719C>T	12.37:g.55641790C>T	ENSP00000342836:p.Ser240Phe						p.S240F	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			0	719	+			240						Missense_Mutation	SNP	ENST00000343870.4	37	c.719C>T	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	16.22	3.061612	0.55432	.	.	ENSG00000197706	ENST00000343870	T	0.37058	1.22	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.58836	0.2150	M	0.89163	3.01	0.09310	N	1	D	0.56035	0.974	P	0.59012	0.85	T	0.60606	-0.7230	10	0.72032	D	0.01	.	9.3729	0.38266	0.1462:0.7773:0.0:0.0765	.	240	A6NCV1	O6C74_HUMAN	F	240	ENSP00000342836:S240F	ENSP00000342836:S240F	S	+	2	0	OR6C74	53928057	0.000000	0.05858	0.995000	0.50966	0.950000	0.60333	0.385000	0.20685	2.722000	0.93159	0.551000	0.68910	TCT		0.373	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1		
LRP1	4035	broad.mit.edu	37	12	57569290	57569290	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:57569290G>C	ENST00000243077.3	+	23	4061	c.3595G>C	c.(3595-3597)Gca>Cca	p.A1199P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1199	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCTCAGTGGCACCTGGCGA	0.602											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3595-3597)Gca>Cca		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						73.0	62.0	66.0					12																	57569290		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57569290G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3595G>C	12.37:g.57569290G>C	ENSP00000243077:p.Ala1199Pro		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.A1199P	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	4061	+			1199			EGF-like 5.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3595G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165125	0.57476	.	.	ENSG00000123384	ENST00000243077	D	0.87412	-2.25	4.87	4.87	0.63330	Epidermal growth factor-like (1);	0.153969	0.39834	N	0.001241	D	0.86781	0.6015	L	0.61218	1.895	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	D	0.85992	0.1489	10	0.31617	T	0.26	.	16.9476	0.86233	0.0:0.0:1.0:0.0	.	1199	Q07954	LRP1_HUMAN	P	1199	ENSP00000243077:A1199P	ENSP00000243077:A1199P	A	+	1	0	LRP1	55855557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.514000	0.67043	2.537000	0.85549	0.655000	0.94253	GCA		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
GALNT9	50614	broad.mit.edu	37	12	132682414	132682414	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:132682414C>T	ENST00000328957.8	-	10	1587	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S	GALNT9_ENST00000397325.2_Missense_Mutation_p.G164S|GALNT9_ENST00000541995.1_Missense_Mutation_p.G164S|GALNT9_ENST00000535228.1_Missense_Mutation_p.G281S	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGGCCCGTGCCGTCATCCACC	0.657																																					Colon(186;2147 2752 13553 41466)	uc001ukc.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1588-1590)Ggc>Agc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.							20.0	26.0	24.0					12																	132682414		2132	4227	6359	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132682414C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1588G>A	12.37:g.132682414C>T	ENSP00000329846:p.Gly530Ser					GALNT9_uc009zyr.3_Missense_Mutation_p.G304S|GALNT9_uc001ukb.3_Missense_Mutation_p.G387S|GALNT9_uc001uka.3_Missense_Mutation_p.G164S	p.G530S	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	9	1704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	530			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1588G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.35|13.35	2.210354|2.210354	0.39003|0.39003	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.28454|.	1.61;1.61;1.61;1.61|.	4.29|4.29	4.29|4.29	0.51040|0.51040	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.221342|.	0.47093|.	D|.	0.000244|.	T|T	0.66819|0.66819	0.2828|0.2828	L|L	0.47016|0.47016	1.485|1.485	0.54753|0.54753	D|D	0.999988|0.999988	P;B;B|.	0.36974|.	0.576;0.206;0.013|.	B;B;B|.	0.33960|.	0.173;0.061;0.026|.	T|T	0.65635|0.65635	-0.6120|-0.6120	10|5	0.07175|.	T|.	0.84|.	.|.	16.7802|16.7802	0.85561|0.85561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	281;530;387|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	S|Q	164;530;281;164|302	ENSP00000380488:G164S;ENSP00000329846:G530S;ENSP00000439745:G281S;ENSP00000440544:G164S|.	ENSP00000329846:G530S|.	G|R	-|-	1|2	0|0	GALNT9|GALNT9	131248367|131248367	0.997000|0.997000	0.39634|0.39634	0.464000|0.464000	0.27143|0.27143	0.409000|0.409000	0.31022|0.31022	3.599000|3.599000	0.54045|0.54045	1.929000|1.929000	0.55896|0.55896	0.555000|0.555000	0.69702|0.69702	GGC|CGG		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	
SYNE2	23224	broad.mit.edu	37	14	64457171	64457171	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr14:64457171A>G	ENST00000344113.4	+	20	2568	c.2356A>G	c.(2356-2358)Aga>Gga	p.R786G	SYNE2_ENST00000358025.3_Missense_Mutation_p.R786G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.R786G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	786					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTTATGGCAAGAAGTGAAGA	0.343																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2356-2358)Aga>Gga		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							93.0	89.0	90.0					14																	64457171		1835	4098	5933	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457171A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2356A>G	14.37:g.64457171A>G	ENSP00000341781:p.Arg786Gly					SYNE2_uc001xgm.3_Missense_Mutation_p.R786G|SYNE2_uc021ruh.1_Missense_Mutation_p.R786G	p.R786G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2586	+			786					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2356A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693506	0.30052	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57436	0.76;0.77;0.4	5.39	5.39	0.77823	.	0.352176	0.24748	N	0.035940	T	0.58337	0.2115	L	0.44542	1.39	0.80722	D	1	D;D	0.57571	0.965;0.98	P;P	0.57152	0.656;0.814	T	0.58797	-0.7573	10	0.48119	T	0.1	.	11.8017	0.52130	1.0:0.0:0.0:0.0	.	786;786	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	786	ENSP00000350719:R786G;ENSP00000341781:R786G;ENSP00000452570:R786G	ENSP00000261678:R786G	R	+	1	2	SYNE2	63526924	1.000000	0.71417	0.825000	0.32803	0.406000	0.30931	3.593000	0.54001	2.045000	0.60652	0.460000	0.39030	AGA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
GABRA5	2558	broad.mit.edu	37	15	27182399	27182399	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:27182399G>A	ENST00000335625.5	+	8	1536	c.648G>A	c.(646-648)gcG>gcA	p.A216A	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.A216A|GABRA5_ENST00000355395.5_Silent_p.A216A	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	216					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGGTGGTGGCGGAAGATGGCT	0.577																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(646-648)gcG>gcA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						95.0	99.0	98.0					15																	27182399		2089	4209	6298	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27182399G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.648G>A	15.37:g.27182399G>A						GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.A216A	p.A216A	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	7	1180	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	216					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.648G>A	CCDS45194.1																																																																																				0.577	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
BAHD1	22893	broad.mit.edu	37	15	40751044	40751044	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:40751044C>T	ENST00000416165.1	+	2	452	c.381C>T	c.(379-381)ctC>ctT	p.L127L	BAHD1_ENST00000560846.1_Silent_p.L127L|BAHD1_ENST00000561234.1_Silent_p.L127L	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	127					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTGAAGCTCTCAATAACCTGC	0.682																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(379-381)ctC>ctT		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							28.0	34.0	32.0					15																	40751044		2191	4280	6471	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751044C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.381C>T	15.37:g.40751044C>T						BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L	p.L127L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	452	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	127					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.381C>T	CCDS10058.1																																																																																				0.682	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
CKMT1A	548596	broad.mit.edu	37	15	43991225	43991225	+	Missense_Mutation	SNP	C	C	T	rs148934583	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:43991225C>T	ENST00000413453.2	+	9	1716	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R398W			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	398	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGATTGTGAACGGCGTCTGGA	0.493													C|||	25	0.00499201	0.0	0.0	5008	,	,		20163	0.0238		0.0	False		,,,				2504	0.001					uc001zsn.3																			0				lung(4)	4						c.(1192-1194)Cgg>Tgg		Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)	C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	179.0	160.0	166.0		1192	0.5	1.0	15	dbSNP_134	166	0,8588		0,0,4294	no	missense	CKMT1A	NM_001015001.1	101	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	398/418	43991225	1,12983	2198	4294	6492	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43991225C>T	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1192C>T	15.37:g.43991225C>T	ENSP00000406577:p.Arg398Trp					CKMT1A_uc010uea.2_Missense_Mutation_p.R429W	p.R398W	NM_001015001	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1584	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	398			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.1192C>T	CCDS32217.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.78	3.474313	0.63737	2.27E-4	0.0	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.25250	1.81;1.81	3.71	0.528	0.17089	.	0.108796	0.64402	D	0.000012	T	0.22820	0.0551	.	.	.	0.50813	D	0.999899	.	.	.	.	.	.	T	0.04191	-1.0970	7	0.87932	D	0	8.7535	3.6156	0.08077	0.3386:0.4657:0.0:0.1957	.	.	.	.	W	429;398;398	ENSP00000413165:R398W;ENSP00000406577:R398W	ENSP00000406577:R398W	R	+	1	2	CKMT1A	41778517	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	2.182000	0.42556	-0.233000	0.09797	0.393000	0.25936	CGG		0.493	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1		
CREBBP	1387	broad.mit.edu	37	16	3807844	3807844	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:3807844A>G	ENST00000262367.5	-	18	4384	c.3575T>C	c.(3574-3576)gTc>gCc	p.V1192A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1154A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1192					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGCATGACAGGGTCAAT	0.443			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3574-3576)gTc>gCc		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							110.0	94.0	100.0					16																	3807844		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807844A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3575T>C	16.37:g.3807844A>G	ENSP00000262367:p.Val1192Ala					CREBBP_uc002cvw.3_Missense_Mutation_p.V1154A	p.V1192A	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	17	3779	-		Ovarian(90;0.0266)	1192					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3575T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067570	0.55539	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.18502	2.21;2.21	5.59	5.59	0.84812	Domain of unknown function DUF902, CREBbp (1);Bromodomain (3);	0.000000	0.64402	D	0.000004	T	0.40498	0.1119	M	0.62723	1.935	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.85130	0.997;0.997	T	0.14727	-1.0462	10	0.54805	T	0.06	-23.9721	15.7654	0.78123	1.0:0.0:0.0:0.0	.	1222;1192	Q4LE28;Q92793	.;CBP_HUMAN	A	1192;1222;1154	ENSP00000262367:V1192A;ENSP00000371502:V1154A	ENSP00000262367:V1192A	V	-	2	0	CREBBP	3747845	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	9.210000	0.95106	2.127000	0.65507	0.477000	0.44152	GTC		0.443	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
XYLT1	64131	broad.mit.edu	37	16	17228564	17228564	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:17228564C>T	ENST00000261381.6	-	9	1877	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	598			R -> C (in DBQD2). {ECO:0000269|PubMed:24581741}.		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R598H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCAAACTTGCGGGCAAAGAA	0.552																																						uc002dfa.3																			2	Substitution - Missense(2)	p.R598H(4)	prostate(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1792-1794)cGc>cAc		Homo sapiens xylosyltransferase I (XYLT1), mRNA.							128.0	129.0	129.0					16																	17228564		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228564C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1793G>A	16.37:g.17228564C>T	ENSP00000261381:p.Arg598His						p.R598H	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			8	1878	-			598					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1793G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239213	0.95240	.	.	ENSG00000103489	ENST00000261381	T	0.21031	2.03	5.03	5.03	0.67393	.	0.145178	0.64402	D	0.000010	T	0.51160	0.1658	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	P	0.59288	0.855	T	0.63532	-0.6616	10	0.87932	D	0	-22.1412	17.726	0.88365	0.0:1.0:0.0:0.0	.	598	Q86Y38	XYLT1_HUMAN	H	598	ENSP00000261381:R598H	ENSP00000261381:R598H	R	-	2	0	XYLT1	17136065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.485000	0.83878	0.561000	0.74099	CGC		0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
RLTPR	146206	broad.mit.edu	37	16	67683162	67683162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:67683162delC	ENST00000334583.6	+	19	2022	c.1694delC	c.(1693-1695)accfs	p.T565fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.T529fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	565					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACAGGGAGACCCTGGACGAC	0.637																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1693-1695)accfs		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							52.0	59.0	57.0					16																	67683162		2001	4152	6153	SO:0001589	frameshift_variant	146206							g.chr16:67683162delC	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1694delC	16.37:g.67683162delC	ENSP00000334958:p.Thr565fs					RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.2_Frame_Shift_Del_p.T529fs	p.T565fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	18	1814	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	565					B8X2Z3	Frame_Shift_Del	DEL	ENST00000334583.6	37	c.1694delC	CCDS45513.1																																																																																				0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
ZNF23	7571	broad.mit.edu	37	16	71482423	71482423	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:71482423T>C	ENST00000393539.2	-	6	2318	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	ZNF23_ENST00000564528.1_Missense_Mutation_p.K444R|ZNF23_ENST00000428724.2_Missense_Mutation_p.K444R|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K502R|ZNF23_ENST00000357254.4_Missense_Mutation_p.K502R	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTGATAGGGCTTTTCTCCAGT	0.403																																						uc002faf.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(1504-1506)aAg>aGg		Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.							133.0	124.0	127.0					16																	71482423		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482423T>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1505A>G	16.37:g.71482423T>C	ENSP00000377171:p.Lys502Arg					ZNF23_uc002fah.3_Missense_Mutation_p.K502R|ZNF23_uc002fad.3_Missense_Mutation_p.K444R|ZNF23_uc010vmf.2_Missense_Mutation_p.K444R|ZNF23_uc002fag.3_Missense_Mutation_p.K444R|ZNF23_uc002fai.3_Missense_Mutation_p.K541R	p.K502R	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	5	2319	-		Ovarian(137;0.00768)	502					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1505A>G	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192284	0.58017	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.27	4.27	0.50696	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000301	T	0.36908	0.0984	L	0.31371	0.925	0.36595	D	0.874352	D;D	0.58268	0.963;0.982	D;D	0.79784	0.917;0.993	T	0.43877	-0.9364	10	0.66056	D	0.02	-28.359	12.0056	0.53257	0.0:0.0:0.0:1.0	.	502;502	B3KR55;P17027	.;ZNF23_HUMAN	R	502;502;502;444;444;274	ENSP00000377171:K502R;ENSP00000349796:K502R;ENSP00000395712:K502R;ENSP00000387673:K444R	ENSP00000349796:K502R	K	-	2	0	ZNF23	70039924	0.324000	0.24652	0.996000	0.52242	0.983000	0.72400	0.617000	0.24359	2.148000	0.66965	0.459000	0.35465	AAG		0.403	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
MYH2	4620	broad.mit.edu	37	17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10428788C>T	ENST00000245503.5	-	32	4901	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1506Q|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1506					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1506Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGTTCTCTCGCTTCAGGGT	0.428																																						uc010coi.3																			1	Substitution - Missense(1)	p.R1506Q(2)|p.R1506*(1)	breast(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4516-4518)cGa>cAa		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							93.0	94.0	94.0					17																	10428788		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428788C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4517G>A	17.37:g.10428788C>T	ENSP00000245503:p.Arg1506Gln					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1506Q|MYH2_uc010coj.3_Intron	p.R1506Q	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			31	4645	-			1506					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4517G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409147	0.96072	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83506	-1.73;-1.73	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.33382	U	0.004965	D	0.95092	0.8410	H	0.98525	4.255	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	D	0.96816	0.9600	10	0.87932	D	0	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	1506	Q9UKX2	MYH2_HUMAN	Q	1506	ENSP00000245503:R1506Q;ENSP00000380367:R1506Q	ENSP00000245503:R1506Q	R	-	2	0	MYH2	10369513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.630000	0.83225	2.713000	0.92767	0.591000	0.81541	CGA		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T	rs201040489		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10442604C>T	ENST00000245503.5	-	14	1718	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R445H|MYH2_ENST00000532183.2_Missense_Mutation_p.R445H|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	445	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R445H(3)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGTTGATGCGGGCAACCAT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18714	0.001		0.0	False		,,,				2504	0.0					uc010coi.3																			3	Substitution - Missense(3)	p.R445H(6)	biliary_tract(1)|ovary(1)|breast(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1333-1335)cGc>cAc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	172.0	166.0	168.0		1334,1334	5.4	1.0	17		168	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	445/1942,445/1942	10442604	2,13004	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442604C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1334G>A	17.37:g.10442604C>T	ENSP00000245503:p.Arg445His					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R445H|MYH2_uc010coj.3_Missense_Mutation_p.R445H	p.R445H	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			13	1462	-			445			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1334G>A	CCDS11156.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.437302	0.96168	0.0	2.33E-4	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88741	-2.42;-2.42;-2.42	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.000000	0.40144	U	0.001168	D	0.95796	0.8632	M	0.91561	3.22	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.985	D	0.96516	0.9382	10	0.87932	D	0	.	18.2166	0.89887	0.0:1.0:0.0:0.0	.	445;445	Q567P6;Q9UKX2	.;MYH2_HUMAN	H	445	ENSP00000433944:R445H;ENSP00000245503:R445H;ENSP00000380367:R445H	ENSP00000245503:R445H	R	-	2	0	MYH2	10383329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.547000	0.85894	0.585000	0.79938	CGC		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
GAS2L2	246176	broad.mit.edu	37	17	34074267	34074267	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:34074267G>A	ENST00000254466.6	-	5	880	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	GAS2L2_ENST00000587565.1_Silent_p.L269L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	285					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGGCTTCAGGAAGCTGCCT	0.597																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(853-855)Ctg>Ttg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							128.0	136.0	134.0					17																	34074267		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074267G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.853C>T	17.37:g.34074267G>A							p.L285L	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	881	-		Ovarian(249;0.17)	285					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.853C>T	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
KRT33B	3884	broad.mit.edu	37	17	39522870	39522870	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39522870G>A	ENST00000251646.3	-	3	489	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	147	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGACTGCTCCGTCTGGTACCT	0.517																																						uc002hwl.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(439-441)aCg>aTg		Homo sapiens keratin 33B (KRT33B), mRNA.							43.0	46.0	45.0					17																	39522870		2189	4300	6489	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39522870G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.440C>T	17.37:g.39522870G>A	ENSP00000251646:p.Thr147Met						p.T147M	NM_002279	NP_002270	Q14525	KT33B_HUMAN			2	485	-		Breast(137;0.000496)	147			Coil 1B.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.440C>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.370166	0.24771	.	.	ENSG00000131738	ENST00000251646	D	0.89485	-2.52	4.51	1.13	0.20643	Filament (1);	0.189610	0.38111	N	0.001808	D	0.84511	0.5488	M	0.68593	2.085	0.09310	N	1	P	0.35780	0.52	B	0.32624	0.149	T	0.76091	-0.3086	10	0.59425	D	0.04	.	8.4993	0.33148	0.0:0.2475:0.3788:0.3737	.	147	Q14525	KT33B_HUMAN	M	147	ENSP00000251646:T147M	ENSP00000251646:T147M	T	-	2	0	KRT33B	36776396	0.008000	0.16893	0.014000	0.15608	0.066000	0.16364	0.040000	0.13905	0.221000	0.20879	0.561000	0.74099	ACG		0.517	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT34	3885	broad.mit.edu	37	17	39535941	39535941	+	Missense_Mutation	SNP	C	C	T	rs140296098		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39535941C>T	ENST00000394001.1	-	4	787	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	253	Linker 12.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.552																																						uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(757-759)Gtg>Atg		Homo sapiens keratin 34 (KRT34), mRNA.		C	MET/VAL	10,4396	16.8+/-37.8	0,10,2193	86.0	69.0	75.0		757	3.6	1.0	17	dbSNP_134	75	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	21	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	253/437	39535941	10,12996	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535941C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.757G>A	17.37:g.39535941C>T	ENSP00000377570:p.Val253Met						p.V253M	NM_021013	NP_066293	O76011	KRT34_HUMAN			3	769	-		Breast(137;0.000496)	253			Linker 12.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.757G>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.277093	0.59758	0.00227	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.6	3.63	0.41609	Filament (1);	0.119889	0.38381	N	0.001715	T	0.78317	0.4264	M	0.83223	2.63	0.40106	D	0.976437	D	0.89917	1.0	D	0.72338	0.977	T	0.81551	-0.0881	9	0.87932	D	0	.	11.5788	0.50879	0.0:0.9125:0.0:0.0875	.	253	O76011	KRT34_HUMAN	M	211;253	.	ENSP00000251648:V253M	V	-	1	0	KRT34	36789467	0.984000	0.35163	0.986000	0.45419	0.274000	0.26718	2.656000	0.46716	1.049000	0.40321	0.603000	0.83216	GTG		0.552	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
OTOP3	347741	broad.mit.edu	37	17	72937902	72937902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:72937902G>A	ENST00000328801.4	+	2	488	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	163						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTCTGGGTGCGGGGTGAGTGT	0.687																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(487-489)cGg>cAg		Homo sapiens otopetrin 3 (OTOP3), mRNA.							19.0	20.0	20.0					17																	72937902		2202	4300	6502	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937902G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.488G>A	17.37:g.72937902G>A	ENSP00000328090:p.Arg163Gln					OTOP3_uc010wrq.2_Missense_Mutation_p.R145Q	p.R163Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			1	488	+	all_lung(278;0.151)|Lung NSC(278;0.185)		163						Missense_Mutation	SNP	ENST00000328801.4	37	c.488G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	g	14.59	2.581800	0.46006	.	.	ENSG00000182938	ENST00000328801	T	0.14144	2.53	3.91	2.85	0.33270	.	0.283503	0.23594	N	0.046517	T	0.09291	0.0229	L	0.38531	1.155	0.26226	N	0.979088	B	0.27625	0.183	B	0.12837	0.008	T	0.15122	-1.0448	10	0.51188	T	0.08	-15.7856	6.7893	0.23692	0.284:0.0:0.716:0.0	.	163	Q7RTS5	OTOP3_HUMAN	Q	163	ENSP00000328090:R163Q	ENSP00000328090:R163Q	R	+	2	0	OTOP3	70449497	0.994000	0.37717	1.000000	0.80357	0.819000	0.46315	2.084000	0.41625	1.984000	0.57885	0.457000	0.33378	CGG		0.687	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
ZFR2	23217	broad.mit.edu	37	19	3825291	3825291	+	Missense_Mutation	SNP	C	C	T	rs371712225		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:3825291C>T	ENST00000262961.4	-	7	1160	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	384							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GAGGCACACACGCTGGGGCCA	0.672																																						uc002lyw.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1150-1152)Gtg>Atg		Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.		C	MET/VAL	0,3926		0,0,1963	11.0	14.0	13.0		1150	-4.2	0.0	19		13	1,8285		0,1,4142	no	missense	ZFR2	NM_015174.1	21	0,1,6105	TT,TC,CC		0.0121,0.0,0.0082	benign	384/940	3825291	1,12211	1963	4143	6106	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825291C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1150G>A	19.37:g.3825291C>T	ENSP00000262961:p.Val384Met					ZFR2_uc010xhx.1_Intron	p.V384M	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	6	1162	-			384						Missense_Mutation	SNP	ENST00000262961.4	37	c.1150G>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771133	0.16051	0.0	1.21E-4	ENSG00000105278	ENST00000262961	T	0.07216	3.21	2.83	-4.2	0.03823	.	1.136060	0.07102	N	0.840533	T	0.05364	0.0142	L	0.41824	1.3	0.09310	N	1	P	0.36354	0.549	B	0.31390	0.129	T	0.34976	-0.9807	10	0.33141	T	0.24	-1.6668	3.7064	0.08403	0.1921:0.2857:0.0:0.5222	.	384	Q9UPR6	ZFR2_HUMAN	M	384	ENSP00000262961:V384M	ENSP00000262961:V384M	V	-	1	0	ZFR2	3776291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.425000	0.02446	-0.682000	0.05197	0.462000	0.41574	GTG		0.672	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	
OR7D2	162998	broad.mit.edu	37	19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T	rs201184916		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:9297245C>T	ENST00000344248.2	+	1	967	c.788C>T	c.(787-789)gCg>gTg	p.A263V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A263V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTCACTTCTGCGGTGACTCAC	0.507																																						uc002mkz.1																			1	Substitution - Missense(1)	p.A263V(2)	lung(1)	breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(787-789)gCg>gTg		Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.							90.0	80.0	83.0					19																	9297245		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297245C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.788C>T	19.37:g.9297245C>T	ENSP00000345563:p.Ala263Val						p.A263V	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			0	976	+			263					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.788C>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401737	0.25291	.	.	ENSG00000188000	ENST00000344248	T	0.00152	8.66	2.21	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.385589	0.18737	N	0.132553	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.26258	0.145	B	0.35413	0.202	T	0.22906	-1.0203	10	0.66056	D	0.02	.	5.5954	0.17323	0.0:0.7124:0.0:0.2876	.	263	Q96RA2	OR7D2_HUMAN	V	263	ENSP00000345563:A263V	ENSP00000345563:A263V	A	+	2	0	OR7D2	9158245	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.684000	0.05173	0.518000	0.28383	0.511000	0.50034	GCG		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1		
TRMT1	55621	broad.mit.edu	37	19	13218442	13218442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:13218442C>T	ENST00000592062.1	-	15	2099	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	TRMT1_ENST00000357720.4_Missense_Mutation_p.R510Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.R510Q|TRMT1_ENST00000221504.8_Missense_Mutation_p.R481Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	510							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TAGTCGCTCCCGTTTCACCGG	0.617																																						uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1528-1530)cGg>cAg		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							64.0	41.0	49.0					19																	13218442		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13218442C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1529G>A	19.37:g.13218442C>T	ENSP00000466967:p.Arg510Gln					TRMT1_uc010xmy.1_Missense_Mutation_p.R114Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R510Q|TRMT1_uc010xmz.1_Missense_Mutation_p.R296Q	p.R510Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	12	1779	-			510					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1529G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009238	0.35415	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.09538	2.97;2.97;2.97	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.58810	1.83	0.58432	D	0.999997	P;P	0.42518	0.782;0.695	B;B	0.38264	0.269;0.09	T	0.08932	-1.0698	10	0.33141	T	0.24	-23.3649	13.6456	0.62279	0.0:1.0:0.0:0.0	.	481;510	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	510;510;481	ENSP00000350352:R510Q;ENSP00000416149:R510Q;ENSP00000221504:R481Q	ENSP00000221504:R481Q	R	-	2	0	TRMT1	13079442	1.000000	0.71417	0.999000	0.59377	0.089000	0.18198	4.932000	0.63476	2.081000	0.62600	0.455000	0.32223	CGG		0.617	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	
CTC-260E6.6	0	broad.mit.edu	37	19	20369998	20369998	+	RNA	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:20369998G>A	ENST00000593655.1	-	0	199																											CGGTTGAAACGAGAACTTAAA	0.418																																																									0																																																			284441							g.chr19:20369998G>A																													19.37:g.20369998G>A						ZNF486 (61014 upstream) : ZNF826P (81080 downstream)																			Missense_Mutation	SNP	ENST00000593655.1	37																																																																																						0.418	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1		
NLRP2	55655	broad.mit.edu	37	19	55494686	55494686	+	Silent	SNP	C	C	T	rs190374903		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:55494686C>T	ENST00000543010.1	+	6	1763	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	NLRP2_ENST00000339757.7_Silent_p.S518S|NLRP2_ENST00000537859.1_Silent_p.S518S|NLRP2_ENST00000538819.1_Silent_p.S516S|NLRP2_ENST00000263437.6_Silent_p.S537S|NLRP2_ENST00000427260.2_Silent_p.S517S|NLRP2_ENST00000391721.4_Silent_p.S516S|NLRP2_ENST00000448584.2_Silent_p.S540S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	540					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCTGCTTTCCGGAGTAGAAA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18031	0.0		0.001	False		,,,				2504	0.0					uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1618-1620)tcC>tcT		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.		C	,,,	0,4406		0,0,2203	88.0	81.0	84.0		1620,1554,1551,1620	0.6	0.0	19		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	540/1063,518/1041,517/1040,540/1063	55494686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494686C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1620C>T	19.37:g.55494686C>T						NLRP2_uc010yfp.2_Silent_p.S517S|NLRP2_uc002qij.3_Silent_p.S540S|NLRP2_uc010esp.3_Silent_p.S518S|NLRP2_uc010esn.3_Silent_p.S516S|NLRP2_uc010eso.3_Silent_p.S537S	p.S540S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	1731	+			540					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1620C>T	CCDS12913.1																																																																																				0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
SCN7A	6332	broad.mit.edu	37	2	167327191	167327191	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr2:167327191C>A	ENST00000409855.1	-	6	724	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	200					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGAATGAAGTCCAGAGGTGAG	0.294																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(598-600)Gac>Tac		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							41.0	41.0	41.0					2																	167327191		1798	4049	5847	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167327191C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.598G>T	2.37:g.167327191C>A	ENSP00000386796:p.Asp200Tyr					SCN7A_uc010fpm.2_Non-coding_Transcript	p.D200Y	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			5	728	-			200						Missense_Mutation	SNP	ENST00000409855.1	37	c.598G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	9.902	1.207102	0.22205	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98567	-5.0;-5.0;-5.0	4.62	-3.48	0.04739	Ion transport (1);	1.235800	0.05607	N	0.577337	D	0.94245	0.8152	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.87657	0.2532	10	0.62326	D	0.03	.	7.986	0.30212	0.1521:0.606:0.0:0.2419	.	200	Q01118	SCN7A_HUMAN	Y	200	ENSP00000386796:D200Y;ENSP00000413699:D200Y;ENSP00000403846:D200Y	ENSP00000259060:D200Y	D	-	1	0	SCN7A	167035437	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	0.942000	0.29017	-0.476000	0.06842	-0.339000	0.08088	GAC		0.294	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
PDYN	5173	broad.mit.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	rs201486601		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	PDYN_ENST00000540134.1_Missense_Mutation_p.R212W|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; dbSNP:rs201486601). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16226	0.0		0.0	False		,,,				2504	0.0					uc010gaj.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(634-636)Cgg>Tgg		Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.							102.0	113.0	109.0					20																	1961100		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961100G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.634C>T	20.37:g.1961100G>A	ENSP00000217305:p.Arg212Trp					AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R212W|PDYN_uc021vzt.1_Missense_Mutation_p.R212W|PDYN_uc021vzu.1_Missense_Mutation_p.R212W|PDYN_uc002wfv.3_Missense_Mutation_p.R212W	p.R212W	NM_001190892	NP_077722	P01213	PDYN_HUMAN			2	876	-			212		R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.634C>T	CCDS13023.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.944983	0.73672	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.85556	-2.0;-2.0;-2.0	5.0	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	M	0.89601	3.045	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.91682	0.5359	10	0.59425	D	0.04	-24.1261	16.3704	0.83355	0.0:0.0:0.2532:0.7468	.	212	P01213	PDYN_HUMAN	W	212	ENSP00000440185:R212W;ENSP00000442259:R212W;ENSP00000217305:R212W	ENSP00000217305:R212W	R	-	1	2	PDYN	1909100	1.000000	0.71417	0.822000	0.32727	0.984000	0.73092	0.612000	0.24283	-0.750000	0.04740	0.313000	0.20887	CGG		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
SPAG4	6676	broad.mit.edu	37	20	34206631	34206631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:34206631G>A	ENST00000374273.3	+	7	818	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	236					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTTCGGGCAGCCAACAGCGA	0.642																																						uc002xdb.1																			0				NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(706-708)Gcc>Acc		Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.							11.0	14.0	13.0					20																	34206631		2200	4293	6493	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206631G>A	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.706G>A	20.37:g.34206631G>A	ENSP00000363391:p.Ala236Thr					SPAG4_uc010zvi.1_Missense_Mutation_p.A159T	p.A236T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		6	823	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		236					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.706G>A	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432418	0.43224	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.23754	2.16;1.89	4.97	3.04	0.35103	.	0.421373	0.23856	N	0.043897	T	0.20495	0.0493	L	0.45581	1.43	0.28207	N	0.927109	B;B	0.15930	0.001;0.015	B;B	0.12156	0.003;0.007	T	0.13202	-1.0518	10	0.40728	T	0.16	-24.2383	7.2942	0.26383	0.1927:0.0:0.8073:0.0	.	111;236	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	T	236;111	ENSP00000363391:A236T;ENSP00000396670:A111T	ENSP00000363391:A236T	A	+	1	0	SPAG4	33670045	0.970000	0.33590	0.661000	0.29709	0.809000	0.45718	1.577000	0.36515	0.704000	0.31869	0.462000	0.41574	GCC		0.642	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
PCIF1	63935	broad.mit.edu	37	20	44571848	44571848	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:44571848C>T	ENST00000372409.3	+	8	1150	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	262					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGTCACCTTCCATGTTTCGTG	0.527																																						uc002xqs.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(784-786)tcC>tcT		Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.							115.0	93.0	100.0					20																	44571848		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44571848C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.786C>T	20.37:g.44571848C>T						PCIF1_uc002xqt.3_5'Flank	p.S262S	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			7	1100	+			262					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.786C>T	CCDS13388.1																																																																																				0.527	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
RIPK4	54101	broad.mit.edu	37	21	43161994	43161994	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000542057.1_Silent_p.C390C|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.C453C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	501					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657																																						uc002yzn.1																			1	Substitution - coding silent(1)	p.C453C(2)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1357-1359)tgC>tgT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							89.0	90.0	90.0					21																	43161994		2203	4299	6502	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161994G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1503C>T	21.37:g.43161994G>A							p.C453C	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1407	-			453					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1359C>T																																																																																					0.657	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
SLC5A4	6527	broad.mit.edu	37	22	32650199	32650199	+	Splice_Site	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:32650199G>A	ENST00000266086.4	-	2	148	c.137C>T	c.(136-138)gCg>gTg	p.A46V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e2-1		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							80.0	70.0	73.0					22																	32650199		2203	4300	6503	SO:0001630	splice_region_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650199G>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.136-1C>T	22.37:g.32650199G>A							p.A46_splice	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			2	138	-			46		A -> T (in dbSNP:rs2235171).			O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.136_splice	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461747	0.43736	.	.	ENSG00000100191	ENST00000266086	D	0.87571	-2.27	5.4	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	L	0.58354	1.805	0.58432	D	0.999996	B	0.32324	0.364	B	0.32090	0.14	D	0.83705	0.0184	10	0.54805	T	0.06	.	11.14	0.48398	0.0891:0.0:0.9109:0.0	.	46	Q9NY91	SC5A4_HUMAN	V	46	ENSP00000266086:A46V	ENSP00000266086:A46V	A	-	2	0	SLC5A4	30980199	1.000000	0.71417	0.841000	0.33234	0.221000	0.24807	5.831000	0.69330	2.550000	0.86006	0.655000	0.94253	GCG		0.572	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	Missense_Mutation
ISX	91464	broad.mit.edu	37	22	35480407	35480407	+	Missense_Mutation	SNP	G	G	A	rs184840753	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:35480407G>A	ENST00000308700.6	+	3	1365	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	ISX_ENST00000404699.2_Missense_Mutation_p.R138Q	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	138					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCAAGTGGCGGAAGCAGGAG	0.537													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18750	0.001		0.0	False		,,,				2504	0.0					uc003anj.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(412-414)cGg>cAg		Homo sapiens intestine-specific homeobox (ISX), mRNA.		G	GLN/ARG	0,4406		0,0,2203	57.0	53.0	54.0		413	5.5	1.0	22		54	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ISX	NM_001008494.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/246	35480407	1,13005	2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35480407G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.413G>A	22.37:g.35480407G>A	ENSP00000311492:p.Arg138Gln						p.R138Q	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1364	+			138					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.413G>A	CCDS33640.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.730203	0.96856	0.0	1.16E-4	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.97553	-4.43;-4.43	5.52	5.52	0.82312	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.138601	0.31673	N	0.007252	D	0.99165	0.9711	H	0.98487	4.245	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98931	1.0787	10	0.87932	D	0	.	17.2978	0.87173	0.0:0.0:1.0:0.0	.	138	Q2M1V0	ISX_HUMAN	Q	138	ENSP00000311492:R138Q;ENSP00000386037:R138Q	ENSP00000311492:R138Q	R	+	2	0	ISX	33810407	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.294000	0.96088	2.757000	0.94681	0.655000	0.94253	CGG		0.537	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494	
SGSM3	27352	broad.mit.edu	37	22	40803235	40803235	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:40803235A>G	ENST00000248929.9	+	12	1460	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	SGSM3_ENST00000454798.2_Missense_Mutation_p.K357R	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCAAGGCCAAGAACATCAAG	0.627																																						uc003ayu.1																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1270-1272)aAg>aGg		Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.							58.0	58.0	58.0					22																	40803235		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803235A>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1271A>G	22.37:g.40803235A>G	ENSP00000248929:p.Lys424Arg					SGSM3_uc011aos.1_Missense_Mutation_p.K357R|SGSM3_uc011aot.1_Missense_Mutation_p.K361R	p.K424R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			11	1480	+			424						Missense_Mutation	SNP	ENST00000248929.9	37	c.1271A>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.017375	0.93404	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.18338	2.32;2.22	5.35	5.35	0.76521	.	0.047563	0.85682	D	0.000000	T	0.43211	0.1237	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.992;0.999;0.999	T	0.40590	-0.9555	10	0.66056	D	0.02	.	15.3324	0.74223	1.0:0.0:0.0:0.0	.	361;357;424;424	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	R	424;357	ENSP00000248929:K424R;ENSP00000390998:K357R	ENSP00000248929:K424R	K	+	2	0	SGSM3	39133181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.947000	0.93000	2.029000	0.59856	0.379000	0.24179	AAG		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
RBMS3	27303	broad.mit.edu	37	3	29938905	29938905	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:29938905G>A	ENST00000383767.2	+	9	1163	c.827G>A	c.(826-828)cGc>cAc	p.R276H	RBMS3_ENST00000396583.3_Missense_Mutation_p.R289H|RBMS3_ENST00000273139.9_Missense_Mutation_p.R276H|RBMS3_ENST00000456853.1_Missense_Mutation_p.R289H|RBMS3_ENST00000383766.2_Missense_Mutation_p.R275H|RBMS3_ENST00000434693.2_Missense_Mutation_p.R275H|RBMS3_ENST00000452462.1_Missense_Mutation_p.R276H			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	276					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCAACCAACCGCATGATTCCA	0.433																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(826-828)cGc>cAc		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							277.0	252.0	260.0					3																	29938905		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29938905G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.827G>A	3.37:g.29938905G>A	ENSP00000373277:p.Arg276His					RBMS3_uc010hfq.3_Missense_Mutation_p.R289H|RBMS3_uc003cek.3_Missense_Mutation_p.R276H|RBMS3_uc010hfr.3_Missense_Mutation_p.R276H|RBMS3_uc003cem.3_Missense_Mutation_p.R275H	p.R276H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			8	1197	+		Ovarian(412;0.0956)	276					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.827G>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818647	0.90790	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.29917	1.6;1.64;1.6;1.57;1.7;1.55;1.63	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.973	D;D;D;P	0.79784	0.993;0.993;0.993;0.701	T	0.57900	-0.7731	9	.	.	.	.	18.754	0.91825	0.0:0.0:1.0:0.0	.	276;289;275;276	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	H	275;289;276;276;275;276;289	ENSP00000395592:R275H;ENSP00000379828:R289H;ENSP00000373277:R276H;ENSP00000273139:R276H;ENSP00000373276:R275H;ENSP00000397926:R276H;ENSP00000400519:R289H	.	R	+	2	0	RBMS3	29913909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	CGC		0.433	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
DNAH1	25981	broad.mit.edu	37	3	52422625	52422625	+	Splice_Site	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:52422625G>A	ENST00000420323.2	+	58	9624	c.9363G>A	c.(9361-9363)aaG>aaA	p.K3121K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3121					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCTGGCAAGGTGCGCACCC	0.657																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e58+1		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							18.0	22.0	21.0					3																	52422625		2191	4276	6467	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422625G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9363+1G>A	3.37:g.52422625G>A						DNAH1_uc003ddv.3_5'UTR	p.K3121_splice	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	58	9624	+			3121					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9363_splice	CCDS46842.1																																																																																				0.657	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Silent
FETUB	26998	broad.mit.edu	37	3	186362610	186362610	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:186362610C>A	ENST00000265029.3	+	4	596	c.495C>A	c.(493-495)caC>caA	p.H165Q	FETUB_ENST00000382134.3_Missense_Mutation_p.H100Q|FETUB_ENST00000450521.1_Missense_Mutation_p.H165Q|FETUB_ENST00000539949.1_Missense_Mutation_p.H17Q|FETUB_ENST00000382136.3_Missense_Mutation_p.H128Q|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	165	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTCCAATCACCAAGTGCTGG	0.443																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(493-495)caC>caA		Homo sapiens fetuin B (FETUB), mRNA.							124.0	116.0	119.0					3																	186362610		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362610C>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.495C>A	3.37:g.186362610C>A	ENSP00000265029:p.His165Gln					FETUB_uc011brz.2_Missense_Mutation_p.H17Q|FETUB_uc003fqn.3_Missense_Mutation_p.H165Q|FETUB_uc010hyr.3_Missense_Mutation_p.H128Q|FETUB_uc010hys.3_Missense_Mutation_p.H17Q|FETUB_uc003fqp.4_Missense_Mutation_p.H100Q	p.H165Q	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	756	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		165			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.495C>A	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305401	0.23736	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.16	-2.13	0.07144	Proteinase inhibitor I25, cystatin (2);	1.133660	0.06424	N	0.722820	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.033;0.028;0.007	B;B;B	0.21151	0.009;0.005;0.033	T	0.34875	-0.9811	10	0.35671	T	0.21	0.0968	10.4276	0.44387	0.0:0.4047:0.0:0.5953	.	128;100;165	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	Q	165;17;17;165;100;128	ENSP00000404288:H165Q;ENSP00000396581:H17Q;ENSP00000443704:H17Q;ENSP00000265029:H165Q;ENSP00000371569:H100Q;ENSP00000371571:H128Q	ENSP00000265029:H165Q	H	+	3	2	FETUB	187845304	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.574000	0.02133	-0.410000	0.07542	-0.251000	0.11542	CAC		0.443	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	
GABRA4	2557	broad.mit.edu	37	4	46973176	46973176	+	Silent	SNP	C	C	T	rs541280213		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:46973176C>T	ENST00000264318.3	-	7	1780	c.798G>A	c.(796-798)ccG>ccA	p.P266P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	266					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCATAATGCACGGAATATAGG	0.368																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(796-798)ccG>ccA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83.0	80.0	81.0					4																	46973176		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46973176C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.798G>A	4.37:g.46973176C>T						GABRA4_uc021xnz.1_Silent_p.P247P|GABRA4_uc021xoa.1_Intron	p.P266P	NM_000809	NP_000800	P48169	GBRA4_HUMAN			6	1781	-			266					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.798G>A	CCDS3473.1																																																																																				0.368	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
UGT2B7	7364	broad.mit.edu	37	4	69962448	69962448	+	Silent	SNP	C	C	T	rs151180306		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:69962448C>T	ENST00000508661.1	+	1	237	c.210C>T	c.(208-210)tcC>tcT	p.S70S	UGT2B7_ENST00000305231.7_Silent_p.S70S|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	70					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.S70S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTCATCCGCTCTTAAAA	0.373																																						uc003heg.4																			1	Substitution - coding silent(1)	p.S70S(2)	lung(1)	autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(208-210)tcC>tcT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.		C		4,4402	8.1+/-20.4	0,4,2199	73.0	79.0	77.0		210	-4.8	0.0	4	dbSNP_134	77	0,8596		0,0,4298	no	coding-synonymous	UGT2B7	NM_001074.2		0,4,6497	TT,TC,CC		0.0,0.0908,0.0308		70/530	69962448	4,12998	2203	4298	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962448C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.210C>T	4.37:g.69962448C>T						UGT2B7_uc010ihq.3_Silent_p.S70S	p.S70S	NM_001074	NP_001065	P16662	UD2B7_HUMAN			0	256	+			70					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.210C>T																																																																																					0.373	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GATCCAGAATGAAACCCAGGA	0.478																																						uc003ity.1																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(820-822)tCa>tTa		Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	Glycine(DB00145)						113.0	100.0	105.0					4																	175598335		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598335G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.821C>T	4.37:g.175598335G>A	ENSP00000274093:p.Ser274Leu					GLRA3_uc003itz.1_Missense_Mutation_p.S274L	p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	6	1324	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	274					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.821C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325080	0.95708	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87887	-2.31;-2.31	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.96243	0.9177	10	0.87932	D	0	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	274;274	O75311-2;O75311	.;GLRA3_HUMAN	L	274	ENSP00000274093:S274L;ENSP00000345284:S274L	ENSP00000274093:S274L	S	-	2	0	GLRA3	175834910	1.000000	0.71417	0.961000	0.40146	0.842000	0.47809	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	TCA		0.478	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
PRDM9	56979	broad.mit.edu	37	5	23526914	23526914	+	Missense_Mutation	SNP	A	A	T	rs373367667		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:23526914A>T	ENST00000296682.3	+	11	1899	c.1717A>T	c.(1717-1719)Ata>Tta	p.I573L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	573					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCACCAGAGGATACACACAGG	0.562										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1717-1719)Ata>Tta		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							73.0	81.0	78.0					5																	23526914		2190	4297	6487	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526914A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1717A>T	5.37:g.23526914A>T	ENSP00000296682:p.Ile573Leu	HNSCC(3;0.000094)					p.I573L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1899	+			573					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1717A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816354	0.32145	.	.	ENSG00000164256	ENST00000296682	T	0.07327	3.2	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.249761	0.20968	N	0.082442	T	0.06917	0.0176	L	0.33137	0.985	0.09310	N	0.999997	B	0.09022	0.002	B	0.17979	0.02	T	0.26395	-1.0104	10	0.54805	T	0.06	-2.9928	8.4538	0.32886	1.0:0.0:0.0:0.0	.	573	Q9NQV7	PRDM9_HUMAN	L	573	ENSP00000296682:I573L	ENSP00000296682:I573L	I	+	1	0	PRDM9	23562671	0.000000	0.05858	1.000000	0.80357	0.635000	0.38103	0.664000	0.25068	1.287000	0.44583	0.329000	0.21502	ATA		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
AP3S1	1176	broad.mit.edu	37	5	115249179	115249179	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:115249179T>C	ENST00000316788.7	+	6	1131	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	192					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CCTGCCCTCTTTTAAATAAAA	0.393																																						uc003krl.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(574-576)Ttt>Ctt		Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.							63.0	67.0	65.0					5																	115249179		2202	4300	6502	SO:0001583	missense	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115249179T>C	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.574T>C	5.37:g.115249179T>C	ENSP00000325369:p.Phe192Leu					AP3S1_uc003krk.3_Missense_Mutation_p.F170L	p.F192L	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	5	690	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	192					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	c.574T>C	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129644	0.56721	.	.	ENSG00000177879	ENST00000316788	T	0.40476	1.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.57536	1.79	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.24048	-1.0171	10	0.42905	T	0.14	25.0429	16.0086	0.80380	0.0:0.0:0.0:1.0	.	192;192	B2R4I8;Q92572	.;AP3S1_HUMAN	L	192	ENSP00000325369:F192L	ENSP00000325369:F192L	F	+	1	0	AP3S1	115277078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.905000	0.87416	2.320000	0.78422	0.528000	0.53228	TTT		0.393	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
PCDHA13	56136	broad.mit.edu	37	5	140263908	140263908	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140263908C>T	ENST00000289272.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G685G|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2053-2055)ggC>ggT		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							62.0	53.0	56.0					5																	140263908		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263908C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2055C>T	5.37:g.140263908C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2055	+			698			Cadherin 6.		O75277	Silent	SNP	ENST00000289272.2	37	c.2055C>T	CCDS4240.1																																																																																				0.632	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB12	56124	broad.mit.edu	37	5	140590224	140590224	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140590224C>T	ENST00000239450.2	+	1	1934	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P245L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.692																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1744-1746)cCg>cTg		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							27.0	35.0	32.0					5																	140590224		2176	4256	6432	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590224C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1745C>T	5.37:g.140590224C>T	ENSP00000239450:p.Pro582Leu					PCDHB12_uc011dak.2_Missense_Mutation_p.P245L	p.P582L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1934	+			582			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1745C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958965	0.53400	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.21031	2.03;2.03	3.25	2.35	0.29111	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.30792	0.0776	M	0.66506	2.035	0.20764	N	0.999858	P	0.49253	0.921	P	0.49421	0.61	T	0.09751	-1.0660	9	0.66056	D	0.02	.	9.7124	0.40254	0.3758:0.6242:0.0:0.0	.	582	Q9Y5F1	PCDBC_HUMAN	L	245;582;202	ENSP00000440199:P245L;ENSP00000239450:P582L	ENSP00000239450:P582L	P	+	2	0	PCDHB12	140570408	0.000000	0.05858	0.144000	0.22314	0.990000	0.78478	0.028000	0.13644	0.448000	0.26722	0.479000	0.44913	CCG		0.692	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHGA5	56110	broad.mit.edu	37	5	140745008	140745008	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140745008G>A	ENST00000518069.1	+	1	1111	c.1111G>A	c.(1111-1113)Gta>Ata	p.V371I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	371	Cadherin 4. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTTAGCGTACATGATGG	0.443																																						uc003lju.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1111-1113)Gta>Ata		Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.							101.0	101.0	101.0					5																	140745008		2033	4190	6223	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745008G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1111G>A	5.37:g.140745008G>A	ENSP00000429834:p.Val371Ile					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V371I	p.V371I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1111	+			374			Cadherin 4.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1111G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.289	0.817344	0.16607	.	.	ENSG00000253485	ENST00000518069	T	0.53206	0.63	5.52	3.75	0.43078	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52108	0.1714	M	0.68317	2.08	0.20196	N	0.999927	B;P	0.35328	0.439;0.495	B;B	0.41466	0.178;0.358	T	0.45190	-0.9278	9	0.46703	T	0.11	.	12.0825	0.53680	0.1413:0.0:0.8587:0.0	.	371;371	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	371	ENSP00000429834:V371I	ENSP00000429834:V371I	V	+	1	0	PCDHGA5	140725192	0.967000	0.33354	0.308000	0.25141	0.052000	0.14988	2.067000	0.41461	0.816000	0.34421	0.563000	0.77884	GTA		0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
DOCK2	1794	broad.mit.edu	37	5	169503081	169503081	+	Missense_Mutation	SNP	G	G	A	rs567162342		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:169503081G>A	ENST00000256935.8	+	47	4939	c.4859G>A	c.(4858-4860)cGa>cAa	p.R1620Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1112Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.R681Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1620	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGGTGTCCGAGAGATGGTA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16810	0.001		0.0	False		,,,				2504	0.0					uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4858-4860)cGa>cAa		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							125.0	118.0	120.0					5																	169503081		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169503081G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4859G>A	5.37:g.169503081G>A	ENSP00000256935:p.Arg1620Gln					DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R1112Q|DOCK2_uc003mah.3_Missense_Mutation_p.R176Q	p.R1620Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		46	4939	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1620			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4859G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612940	0.46631	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09255	3.68;3.31;3.0	5.18	5.18	0.71444	Cytochrome c domain (1);	0.114324	0.56097	D	0.000032	T	0.08980	0.0222	L	0.44542	1.39	0.36837	D	0.887174	D;P;P	0.58620	0.983;0.669;0.755	B;B;B	0.34489	0.184;0.065;0.12	T	0.38585	-0.9654	10	0.11485	T	0.65	.	19.1283	0.93394	0.0:0.0:1.0:0.0	.	1112;176;1620	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1620;1112;681	ENSP00000256935:R1620Q;ENSP00000429283:R1112Q;ENSP00000438827:R681Q	ENSP00000256935:R1620Q	R	+	2	0	DOCK2	169435659	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	5.417000	0.66423	2.598000	0.87819	0.650000	0.86243	CGA		0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
AGPAT1	10554	broad.mit.edu	37	6	32138354	32138354	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:32138354G>A	ENST00000395499.1	-	4	937	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	AGPAT1_ENST00000375107.3_Missense_Mutation_p.R120C|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R120C|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R120C|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R120C|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R120C|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R8C			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	120					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGCACACAGCGGCCTGGCAGT	0.652																																						uc003oae.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(358-360)Cgc>Tgc		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.							52.0	56.0	54.0					6																	32138354		1509	2708	4217	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138354G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.358C>T	6.37:g.32138354G>A	ENSP00000378877:p.Arg120Cys					EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.R84C|AGPAT1_uc003oag.3_Intron|AGPAT1_uc003oah.3_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.2_Missense_Mutation_p.R8C	p.R120C	NM_006411	NP_116130	Q99943	PLCA_HUMAN			3	693	-			120					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.358C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202687	0.94997	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465;ENST00000538952	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.89	5.89	0.94794	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.046774	0.85682	D	0.000000	D	0.97356	0.9135	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97642	1.0149	10	0.72032	D	0.01	-15.7039	17.7556	0.88447	0.0:0.0:1.0:0.0	.	84;120	B4DRH1;Q99943	.;PLCA_HUMAN	C	120;120;120;120;120;120;8;24	ENSP00000378874:R120C;ENSP00000364248:R120C;ENSP00000378877:R120C;ENSP00000364245:R120C;ENSP00000378875:R120C;ENSP00000337463:R120C;ENSP00000410473:R8C	ENSP00000337463:R120C	R	-	1	0	AGPAT1	32246332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.159000	0.50731	2.793000	0.96121	0.655000	0.94253	CGC		0.652	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411	
SPDEF	25803	broad.mit.edu	37	6	34508955	34508955	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:34508955G>C	ENST00000374037.3	-	3	854	c.440C>G	c.(439-441)cCc>cGc	p.P147R	SPDEF_ENST00000544425.1_Missense_Mutation_p.P147R	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	147	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P147R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCAGTCCATGGGATCTGGGCA	0.647																																						uc003ojq.2																			1	Substitution - Missense(1)	p.P147R(2)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(439-441)cCc>cGc		Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.							34.0	33.0	33.0					6																	34508955		2203	4299	6502	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34508955G>C	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.440C>G	6.37:g.34508955G>C	ENSP00000363149:p.Pro147Arg					SPDEF_uc011dsq.2_Missense_Mutation_p.P147R	p.P147R	NM_012391	NP_036523	O95238	SPDEF_HUMAN			2	874	-			147			PNT.		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.440C>G	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378238	0.61735	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.68479	-0.33;-0.33	5.65	5.65	0.86999	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.88123	0.2833	10	0.87932	D	0	.	19.323	0.94250	0.0:0.0:1.0:0.0	.	147;147	F5H778;O95238	.;SPDEF_HUMAN	R	147	ENSP00000363149:P147R;ENSP00000442715:P147R	ENSP00000363149:P147R	P	-	2	0	SPDEF	34616933	1.000000	0.71417	0.969000	0.41365	0.120000	0.20174	9.800000	0.99124	2.659000	0.90383	0.561000	0.74099	CCC		0.647	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391	
KHDRBS2	202559	broad.mit.edu	37	6	62604709	62604709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:62604709G>A	ENST00000281156.4	-	6	919	c.641C>T	c.(640-642)cCa>cTa	p.P214L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	214	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAGGTGGTGGGGGAGGAGG	0.557																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(640-642)cCa>cTa		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							33.0	36.0	35.0					6																	62604709		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604709G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.641C>T	6.37:g.62604709G>A	ENSP00000281156:p.Pro214Leu						p.P214L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	888	-			214			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.641C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111207	0.37242	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.46063	0.88	4.99	3.21	0.36854	.	0.356029	0.30043	N	0.010554	T	0.10723	0.0262	N	0.14661	0.345	0.34423	D	0.697633	B	0.27450	0.179	B	0.21151	0.033	T	0.05354	-1.0890	10	0.51188	T	0.08	-2.7479	8.765	0.34698	0.2299:0.0:0.7701:0.0	.	214	Q5VWX1	KHDR2_HUMAN	L	214	ENSP00000281156:P214L	ENSP00000281156:P214L	P	-	2	0	KHDRBS2	62662668	0.995000	0.38212	0.989000	0.46669	0.998000	0.95712	1.573000	0.36472	0.800000	0.34041	0.655000	0.94253	CCA		0.557	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
ANKRD6	22881	broad.mit.edu	37	6	90337365	90337365	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:90337365C>T	ENST00000522441.1	+	14	2076	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R479C|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R444C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R420C|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R479C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	479					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R479C(2)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GTGCCTGAACCGCCTGCAACA	0.512																																						uc003pni.4																			2	Substitution - Missense(2)	p.R479C(4)	large_intestine(2)	NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1435-1437)Cgc>Tgc		Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.							78.0	87.0	84.0					6																	90337365		2047	4212	6259	SO:0001583	missense	22881						protein binding	g.chr6:90337365C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1435C>T	6.37:g.90337365C>T	ENSP00000430985:p.Arg479Cys					ANKRD6_uc003pne.4_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.4_Missense_Mutation_p.R444C|ANKRD6_uc011dzy.2_Missense_Mutation_p.R479C|ANKRD6_uc010kcd.3_Missense_Mutation_p.R420C|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.R75C	p.R479C	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	13	1776	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	479					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1435C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.753786|3.753786	0.69648|0.69648	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793;ENST00000521004	.|T;T;T;T;T	.|0.80393	.|0.33;0.14;0.12;0.14;-1.37	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	D|D	0.87382|0.87382	0.6163|0.6163	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.988;0.998;0.999;0.98	D|D	0.88178|0.88178	0.2869|0.2869	5|10	.|0.87932	.|D	.|0	-18.8383|-18.8383	19.3118|19.3118	0.94189|0.94189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420;479;444;479	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	L|C	52|444;479;479;479;220;420;34	.|ENSP00000358416:R444C;ENSP00000345767:R479C;ENSP00000396771:R479C;ENSP00000430985:R479C;ENSP00000429782:R420C	.|ENSP00000345767:R479C	P|R	+|+	2|1	0|0	ANKRD6|ANKRD6	90394086|90394086	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.423000|0.423000	0.31445|0.31445	5.104000|5.104000	0.64584|0.64584	2.558000|2.558000	0.86282|0.86282	0.563000|0.563000	0.77884|0.77884	CCG|CGC		0.512	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
KIAA1244	57221	broad.mit.edu	37	6	138531166	138531166	+	Silent	SNP	G	G	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138531166G>T	ENST00000251691.4	+	4	505	c.339G>T	c.(337-339)gtG>gtT	p.V113V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCTGCAGGTGGAAGTGATGA	0.502																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(337-339)gtG>gtT		Homo sapiens KIAA1244 (KIAA1244), mRNA.							150.0	113.0	125.0					6																	138531166		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138531166G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.339G>T	6.37:g.138531166G>T							p.V113V	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	3	510	+	Breast(32;0.135)		113						Silent	SNP	ENST00000251691.4	37	c.339G>T	CCDS5189.2																																																																																				0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1244	57221	broad.mit.edu	37	6	138657552	138657552	+	Missense_Mutation	SNP	G	G	A	rs373010266		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138657552G>A	ENST00000251691.4	+	34	6629	c.6463G>A	c.(6463-6465)Gac>Aac	p.D2155N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCACGTGACCGACATCAGAGT	0.562																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6463-6465)Gac>Aac		Homo sapiens KIAA1244 (KIAA1244), mRNA.		G	ASN/ASP	0,4406		0,0,2203	132.0	114.0	120.0		6463	6.0	1.0	6		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2155/2178	138657552	1,13005	2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138657552G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6463G>A	6.37:g.138657552G>A	ENSP00000251691:p.Asp2155Asn						p.D2155N	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6634	+	Breast(32;0.135)		2155						Missense_Mutation	SNP	ENST00000251691.4	37	c.6463G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	33	5.291293	0.95546	0.0	1.16E-4	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.18810	2.19	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.53760	0.734	T	0.01259	-1.1403	10	0.39692	T	0.17	-43.6961	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2155	Q5TH69	BIG3_HUMAN	N	2155;196	ENSP00000251691:D2155N	ENSP00000251691:D2155N	D	+	1	0	KIAA1244	138699245	1.000000	0.71417	0.972000	0.41901	0.892000	0.51952	9.624000	0.98398	2.865000	0.98341	0.655000	0.94253	GAC		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
PLG	5340	broad.mit.edu	37	6	161139731	161139731	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:161139731G>A	ENST00000308192.9	+	9	1020	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	319	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAGAAATTTGGATGAAAACT	0.453																																						uc003qtm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(955-957)ttG>ttA		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						58.0	63.0	61.0					6																	161139731		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139731G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.957G>A	6.37:g.161139731G>A							p.L319L	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	1069	+			319			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.957G>A	CCDS5279.1																																																																																				0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
GHRHR	2692	broad.mit.edu	37	7	31016046	31016046	+	Missense_Mutation	SNP	G	G	A	rs535727568		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:31016046G>A	ENST00000326139.2	+	11	1023	c.977G>A	c.(976-978)cGt>cAt	p.R326H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R262H|GHRHR_ENST00000409316.1_Silent_p.A92A	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	326					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCCTGCAGGCGTCTCTCCAAG	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0					uc003tbx.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(976-978)cGt>cAt		Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	Sermorelin(DB00010)						80.0	66.0	71.0					7																	31016046		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016046G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.977G>A	7.37:g.31016046G>A	ENSP00000320180:p.Arg326His					GHRHR_uc003tby.3_Missense_Mutation_p.R262H|GHRHR_uc003tbz.3_Silent_p.A92A	p.R326H	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			10	1025	+			326					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.977G>A	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	g	35	5.573952	0.96553	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.43688	0.94;0.94	4.93	4.03	0.46877	GPCR, family 2-like (1);	.	.	.	.	T	0.66973	0.2844	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.965;0.991	T	0.72616	-0.4239	9	0.87932	D	0	.	9.6348	0.39800	0.1006:0.0:0.8994:0.0	.	262;326	Q9HB45;Q02643	.;GHRHR_HUMAN	H	326;262	ENSP00000320180:R326H;ENSP00000387113:R262H	ENSP00000320180:R326H	R	+	2	0	GHRHR	30982571	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	7.044000	0.76578	2.283000	0.76528	0.546000	0.68486	CGT		0.512	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	104.0	100.0					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
WBSCR28	135886	broad.mit.edu	37	7	73280082	73280082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:73280082C>T	ENST00000320531.2	+	3	713	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	226						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ACCCAGCTGGCCGAGGCCCAG	0.627																																						uc003tzk.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(676-678)gCc>gTc		Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.							120.0	132.0	128.0					7																	73280082		2109	4228	6337	SO:0001583	missense	135886					integral to membrane		g.chr7:73280082C>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.677C>T	7.37:g.73280082C>T	ENSP00000316775:p.Ala226Val					WBSCR28_uc003tzl.2_Missense_Mutation_p.A125V	p.A226V	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			2	713	+		Lung NSC(55;0.159)	226					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.677C>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033130	0.54896	.	.	ENSG00000175877	ENST00000320531	T	0.27720	1.65	4.15	3.26	0.37387	.	0.000000	0.39210	N	0.001421	T	0.35098	0.0920	L	0.36672	1.1	0.26335	N	0.977454	D	0.60160	0.987	P	0.57283	0.817	T	0.08006	-1.0743	10	0.87932	D	0	-10.9867	7.8069	0.29209	0.0:0.8865:0.0:0.1135	.	226	Q6UE05	WBS28_HUMAN	V	226	ENSP00000316775:A226V	ENSP00000316775:A226V	A	+	2	0	WBSCR28	72918018	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	2.145000	0.42207	1.111000	0.41721	0.644000	0.83932	GCC		0.627	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504	
ASNS	440	broad.mit.edu	37	7	97484694	97484694	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:97484694G>A	ENST00000394309.3	-	9	1579	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	ASNS_ENST00000175506.4_Missense_Mutation_p.L370F|ASNS_ENST00000437628.1_Missense_Mutation_p.L287F|ASNS_ENST00000444334.1_Missense_Mutation_p.L349F|ASNS_ENST00000422745.1_Missense_Mutation_p.L349F|ASNS_ENST00000394308.3_Missense_Mutation_p.L370F|ASNS_ENST00000455086.1_Missense_Mutation_p.L287F	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	370	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGCGTAAGTTCATCTGAT	0.338																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.4																			0				ovary(1)	1						c.(1108-1110)Ctt>Ttt		Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						107.0	101.0	103.0					7																	97484694		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97484694G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1108C>T	7.37:g.97484694G>A	ENSP00000377846:p.Leu370Phe					ASNS_uc011kin.2_Missense_Mutation_p.L287F|ASNS_uc011kio.2_Missense_Mutation_p.L349F|ASNS_uc003uou.4_Missense_Mutation_p.L370F|ASNS_uc003uov.4_Missense_Mutation_p.L370F|ASNS_uc003uox.4_Missense_Mutation_p.L287F	p.L370F	NM_133436	NP_001171548	P08243	ASNS_HUMAN			8	1614	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		370			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1108C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758896	0.89843	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.17	5.17	0.71159	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.86097	2.795	0.80722	D	1	P	0.49185	0.92	P	0.56563	0.801	T	0.77222	-0.2667	10	0.87932	D	0	-23.8061	16.5286	0.84352	0.0:0.0:1.0:0.0	.	370	P08243	ASNS_HUMAN	F	370;370;287;370;349;287;349	ENSP00000175506:L370F;ENSP00000377846:L370F;ENSP00000414379:L287F;ENSP00000377845:L370F;ENSP00000414901:L349F;ENSP00000408472:L287F;ENSP00000406994:L349F	ENSP00000175506:L370F	L	-	1	0	ASNS	97322630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.843000	0.69424	2.574000	0.86865	0.561000	0.74099	CTT		0.338	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356	
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1447-1449)cGa>cAa		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							145.0	132.0	136.0					7																	146997332		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997332G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1448G>A	7.37:g.146997332G>A	ENSP00000354778:p.Arg483Gln	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.R483Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1964	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	483			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1448G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709276	0.48517	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.95	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000015	T	0.70996	0.3288	L	0.55481	1.735	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.67173	-0.5737	10	0.13470	T	0.59	.	13.8215	0.63322	0.074:0.0:0.926:0.0	.	483	Q9UHC6	CNTP2_HUMAN	Q	483	ENSP00000354778:R483Q	ENSP00000354778:R483Q	R	+	2	0	CNTNAP2	146628265	1.000000	0.71417	0.278000	0.24718	0.771000	0.43674	7.350000	0.79385	1.513000	0.48852	0.563000	0.77884	CGA		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)																												uc003zkk.3																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(349-351)Cgg>Tgg		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							195.0	157.0	170.0					9																	8633320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633320G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.349C>T	9.37:g.8633320G>A	ENSP00000370593:p.Arg117Trp	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Missense_Mutation_p.R117W|PTPRD_uc003zkq.3_Missense_Mutation_p.R117W|PTPRD_uc003zkr.3_Missense_Mutation_p.R117W|PTPRD_uc003zks.3_Missense_Mutation_p.R117W|PTPRD_uc022bdj.1_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	13	1092	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	117					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.349C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454414	0.84209	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	0.52;0.52;0.56;0.61;0.7;0.82;0.58;0.48;0.52;0.7;0.81;-0.56	6.05	6.05	0.98169	.	0.126553	0.50627	D	0.000105	D	0.82995	0.5158	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;1.0;0.999;1.0;0.999;0.997	D;P;P;P;P;D;D;P;P;P	0.71414	0.973;0.878;0.827;0.827;0.827;0.911;0.943;0.897;0.849;0.685	T	0.82516	-0.0418	9	.	.	.	.	15.3312	0.74212	0.0:0.0:0.8603:0.1397	.	117;117;117;117;117;117;117;117;117;117	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	117	ENSP00000370593:R117W;ENSP00000348812:R117W;ENSP00000353187:R117W;ENSP00000351293:R117W;ENSP00000347373:R117W;ENSP00000380741:R117W;ENSP00000380735:R117W;ENSP00000440515:R117W;ENSP00000438164:R117W;ENSP00000417093:R117W;ENSP00000380731:R117W;ENSP00000417661:R117W	.	R	-	1	2	PTPRD	8623320	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.534000	0.60622	2.871000	0.98454	0.637000	0.83480	CGG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
FOCAD	54914	broad.mit.edu	37	9	20976500	20976500	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:20976500C>A	ENST00000380249.1	+	38	4578	c.4214C>A	c.(4213-4215)cCt>cAt	p.P1405H	FOCAD_ENST00000605086.1_Missense_Mutation_p.P841H|FOCAD_ENST00000338382.6_Missense_Mutation_p.P1405H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1405						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CAATATCCTCCTGTGAACTGG	0.393																																						uc003zog.1																			0											c.(4213-4215)cCt>cAt		Homo sapiens KIAA1797 (KIAA1797), mRNA.							231.0	215.0	221.0					9																	20976500		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20976500C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4214C>A	9.37:g.20976500C>A	ENSP00000369599:p.Pro1405His					FOCAD_uc003zoh.1_Missense_Mutation_p.P841H	p.P1405H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			37	4577	+			1405					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4214C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426182	0.83667	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.28255	1.62;1.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62110	-0.6923	10	0.87932	D	0	-28.396	19.4167	0.94704	0.0:1.0:0.0:0.0	.	1405	Q5VW36	K1797_HUMAN	H	1405	ENSP00000369599:P1405H;ENSP00000344307:P1405H	ENSP00000344307:P1405H	P	+	2	0	KIAA1797	20966500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.396000	0.73234	2.588000	0.87417	0.563000	0.77884	CCT		0.393	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
NXNL2	158046	broad.mit.edu	37	9	91150637	91150637	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:91150637C>T	ENST00000375854.3	+	1	622	c.288C>T	c.(286-288)caC>caT	p.H96H	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Silent_p.H96H	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	96	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)					lung(3)	3						TGCCCTTCCACGACCCCTACC	0.711																																						uc011ltj.2																			0				lung(3)	3						c.(286-288)caC>caT		Homo sapiens nucleoredoxin-like 2 (NXNL2), transcript variant 1, mRNA.							16.0	19.0	18.0					9																	91150637		1977	4043	6020	SO:0001819	synonymous_variant	158046							g.chr9:91150637C>T	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.288C>T	9.37:g.91150637C>T						NXNL2_uc004aqa.3_Silent_p.H96H	p.H96H	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			0	622	+			96			Thioredoxin.		B1AMD0|Q8TBG6	Silent	SNP	ENST00000375854.3	37	c.288C>T	CCDS55325.1																																																																																				0.711	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283	
CERCAM	51148	broad.mit.edu	37	9	131185156	131185156	+	Silent	SNP	G	G	A	rs147490658	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:131185156G>A	ENST00000372838.4	+	2	605	c.207G>A	c.(205-207)acG>acA	p.T69T	CERCAM_ENST00000372842.1_5'UTR	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	69					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGTGTGCCACGGACCACAATG	0.602																																						uc004buz.4																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(205-207)acG>acA		Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.							64.0	55.0	58.0					9																	131185156		2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131185156G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.207G>A	9.37:g.131185156G>A						CERCAM_uc004buy.1_5'UTR|CERCAM_uc010mxz.3_5'UTR|CERCAM_uc010mya.1_5'Flank	p.T69T	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			1	605	+			69					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.207G>A	CCDS6901.2																																																																																				0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174	
ELF4	2000	broad.mit.edu	37	X	129200915	129200915	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chrX:129200915C>T	ENST00000308167.5	-	9	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_ENST00000335997.7_Silent_p.P591P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML																																	uc004evd.4				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1771-1773)ccG>ccA		Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.							96.0	101.0	99.0					X																	129200915		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200915C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1773G>A	X.37:g.129200915C>T						ELF4_uc004eve.4_Silent_p.P591P	p.P591P	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	2158	-			591						Silent	SNP	ENST00000308167.5	37	c.1773G>A	CCDS14617.1																																																																																				0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
