#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIAA1522	57648	broad.mit.edu	37	1	33237322	33237322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:33237322G>A	ENST00000373480.1	+	6	2468	c.2365G>A	c.(2365-2367)Gcc>Acc	p.A789T	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.A848T|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A800T	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTAGTTCCGCCCCAGGGCA	0.677																																						uc001bvv.2		NA																	0					0						c.(2365-2367)GCC>ACC		hypothetical protein LOC57648							26.0	30.0	29.0					1																	33237322		1981	4149	6130	SO:0001583	missense	57648							g.chr1:33237322G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2365G>A	1.37:g.33237322G>A	ENSP00000362579:p.Ala789Thr					KIAA1522_uc001bvu.1_Missense_Mutation_p.A848T|KIAA1522_uc010ohm.1_Missense_Mutation_p.A800T|KIAA1522_uc010ohn.1_Intron	p.A789T	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2501	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	789			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2365G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031632	0.54790	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.11277	2.79;2.79;2.8	4.0	4.0	0.46444	.	0.812514	0.10190	N	0.704789	T	0.03520	0.0101	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.35433	0.281;0.133;0.501	B;B;B	0.22152	0.026;0.026;0.038	T	0.22103	-1.0226	10	0.12430	T	0.62	-1.0026	7.2694	0.26248	0.0887:0.0:0.7425:0.1688	.	800;789;848	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	T	848;800;789	ENSP00000383851:A848T;ENSP00000362580:A800T;ENSP00000362579:A789T	ENSP00000362579:A789T	A	+	1	0	KIAA1522	33009909	0.001000	0.12720	0.877000	0.34402	0.473000	0.32948	0.550000	0.23345	2.226000	0.72624	0.650000	0.86243	GCC		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			3	31	0	0	0	0	3	31				
C1orf87	127795	broad.mit.edu	37	1	60503714	60503714	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:60503714T>A	ENST00000371201.3	-	6	920	c.813A>T	c.(811-813)aaA>aaT	p.K271N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	271							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCAGCTGCTTTATTTTGCT	0.383																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	0				ovary(1)|breast(1)	2						c.(811-813)AAA>AAT		hypothetical protein LOC127795							106.0	94.0	98.0					1																	60503714		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60503714T>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.813A>T	1.37:g.60503714T>A	ENSP00000360244:p.Lys271Asn						p.K271N	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			6	905	-			271					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.813A>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420697	0.25639	.	.	ENSG00000162598	ENST00000371201	T	0.19250	2.16	5.65	2.05	0.26809	.	1.259230	0.05120	N	0.490592	T	0.16471	0.0396	L	0.50333	1.59	0.09310	N	1	P	0.37276	0.589	B	0.36608	0.229	T	0.20438	-1.0275	10	0.02654	T	1	-1.7288	4.7104	0.12870	0.1431:0.159:0.0:0.6978	.	271	Q8N0U7	CA087_HUMAN	N	271	ENSP00000360244:K271N	ENSP00000360244:K271N	K	-	3	2	C1orf87	60276302	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.506000	0.22658	1.161000	0.42604	0.533000	0.62120	AAA		0.383	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		19	38	0	0	0	0	19	38				
BRDT	676	broad.mit.edu	37	1	92459659	92459659	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:92459659A>G	ENST00000362005.3	+	16	2553	c.2135A>G	c.(2134-2136)gAc>gGc	p.D712G	BRDT_ENST00000402388.1_Missense_Mutation_p.D712G|BRDT_ENST00000370389.2_Missense_Mutation_p.D639G|BRDT_ENST00000399546.2_Missense_Mutation_p.D712G|BRDT_ENST00000394530.3_Missense_Mutation_p.D666G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	712					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGTGTGCAAGACACAACCTCT	0.348																																						uc001dok.3		NA																	0				stomach(2)|ovary(1)|lung(1)	4						c.(2134-2136)GAC>GGC		testis-specific bromodomain protein							164.0	144.0	151.0					1																	92459659		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92459659A>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2135A>G	1.37:g.92459659A>G	ENSP00000354568:p.Asp712Gly					BRDT_uc001dol.3_Missense_Mutation_p.D712G|BRDT_uc010osz.1_Missense_Mutation_p.D716G|BRDT_uc009wdf.2_Missense_Mutation_p.D639G|BRDT_uc010ota.1_Missense_Mutation_p.D666G|BRDT_uc010otb.1_Missense_Mutation_p.D666G|BRDT_uc001dom.3_Missense_Mutation_p.D712G	p.D712G	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	15	2484	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	712					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2135A>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331807	0.24167	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.19	4.08	0.47627	.	0.527900	0.17570	N	0.169508	T	0.23249	0.0562	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.33694	0.421;0.421;0.039;0.421	B;B;B;B	0.30401	0.115;0.115;0.023;0.115	T	0.11421	-1.0588	10	0.66056	D	0.02	-8.3525	7.1241	0.25461	0.903:0.0:0.097:0.0	.	666;666;716;712	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	G	712;639;712;666;712	ENSP00000354568:D712G;ENSP00000359416:D639G;ENSP00000387822:D712G;ENSP00000378038:D666G;ENSP00000384051:D712G	ENSP00000354568:D712G	D	+	2	0	BRDT	92232247	0.935000	0.31712	0.029000	0.17559	0.003000	0.03518	2.336000	0.43938	2.311000	0.77944	0.533000	0.62120	GAC		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		41	76	0	0	0	0	41	76				
NBPF7	343505	broad.mit.edu	37	1	120387065	120387065	+	IGR	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:120387065T>A								REG4 (32782 upstream) : ADAM30 (49090 downstream)																							ATCTCTGCTTTCTCACTGGAC	0.488											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010oxk.1		NA																	0				ovary(1)|skin(1)	2						c.(94-96)AAA>TAA		hypothetical protein LOC343505							100.0	111.0	107.0					1																	120387065		2147	4284	6431	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120387065T>A																													1.37:g.120387065T>A			OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.K32*	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	1	715	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	32						Nonsense_Mutation	SNP		37	c.94A>T																																																																																				0	0.488									31	122	0	0	0	0	31	122				
KIAA0907	22889	broad.mit.edu	37	1	155891296	155891296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:155891296C>T	ENST00000368321.3	-	10	1159	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	KIAA0907_ENST00000482337.1_5'UTR|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.G379E|KIAA0907_ENST00000368319.3_Silent_p.R345R	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTGGTACTCCGTAGGGAGG	0.517																																						uc001fmi.1		NA																	0					0						c.(1135-1137)GGA>GAA		hypothetical protein LOC22889							120.0	109.0	112.0					1																	155891296		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891296C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1136G>A	1.37:g.155891296C>T	ENSP00000357304:p.Gly379Glu					KIAA0907_uc001fmj.1_Missense_Mutation_p.G379E|KIAA0907_uc009wrk.1_Missense_Mutation_p.G236E|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Silent_p.R345R	p.G379E	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1160	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		379			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1136G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427574	0.62733	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.241207	0.42548	D	0.000698	T	0.26774	0.0655	N	0.14661	0.345	0.80722	D	1	P;P	0.46512	0.879;0.879	B;B	0.42995	0.404;0.404	T	0.12451	-1.0547	9	0.45353	T	0.12	-8.6237	14.1296	0.65245	0.1502:0.8498:0.0:0.0	.	379;379	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	E	379	.	ENSP00000357303:G379E	G	-	2	0	KIAA0907	154157920	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	3.189000	0.50965	2.644000	0.89710	0.491000	0.48974	GGA		0.517	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		25	63	0	0	0	0	25	63				
OR10K1	391109	broad.mit.edu	37	1	158435777	158435777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:158435777G>A	ENST00000289451.2	+	1	506	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGTGTGTATGGGACTAATGG	0.562																																						uc010pij.1		NA																	0				ovary(1)	1						c.(424-426)ATG>ATA		olfactory receptor, family 10, subfamily K,							207.0	195.0	199.0					1																	158435777		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435777G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.426G>A	1.37:g.158435777G>A	ENSP00000289451:p.Met142Ile						p.M142I	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	426	+	all_hematologic(112;0.0378)		142			Helical; Name=4; (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.426G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.944	-0.708577	0.03230	.	.	ENSG00000173285	ENST00000289451	T	0.34859	1.34	4.5	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	2.424390	0.01710	N	0.027692	T	0.03305	0.0096	N	0.01493	-0.835	0.09310	N	1	B	0.20459	0.045	B	0.21151	0.033	T	0.33240	-0.9876	10	0.06891	T	0.86	.	3.8541	0.08968	0.1894:0.0:0.5191:0.2914	.	142	Q8NGX5	O10K1_HUMAN	I	142	ENSP00000289451:M142I	ENSP00000289451:M142I	M	+	3	0	OR10K1	156702401	0.000000	0.05858	0.394000	0.26270	0.743000	0.42351	-0.665000	0.05286	0.522000	0.28464	-0.262000	0.10625	ATG		0.562	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			62	121	0	0	0	0	62	121				
TNN	63923	broad.mit.edu	37	1	175063297	175063297	+	Missense_Mutation	SNP	C	C	T	rs17374761	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:175063297C>T	ENST00000239462.4	+	7	1609	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	499	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs17374761).		axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGTCCTGACGGGCCTGAAG	0.547													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18862	0.0		0.0	False		,,,				2504	0.001					uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1495-1497)ACG>ATG		tenascin N precursor							99.0	73.0	82.0					1																	175063297		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175063297C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1496C>T	1.37:g.175063297C>T	ENSP00000239462:p.Thr499Met					TNN_uc010pmx.1_Missense_Mutation_p.T499M	p.T499M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	7	1609	+		Breast(1374;0.000962)	499			Fibronectin type-III 3.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1496C>T	CCDS30943.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	10.25	1.297831	0.23650	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.59772	0.24	5.12	-0.0113	0.13993	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.737410	0.12743	N	0.442822	T	0.72724	0.3496	M	0.94021	3.485	0.09310	N	1	D;D	0.65815	0.995;0.993	P;D	0.63113	0.836;0.911	T	0.60732	-0.7205	10	0.46703	T	0.11	.	0.5577	0.00673	0.2536:0.3234:0.1236:0.2994	rs17374761;rs52823939;rs17374761	499;499	B3KXB6;Q9UQP3	.;TENN_HUMAN	M	499	ENSP00000239462:T499M	ENSP00000239462:T499M	T	+	2	0	TNN	173329920	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.483000	0.06536	-0.274000	0.09232	-0.964000	0.02622	ACG		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	32	0	0	0	0	16	32				
SLC41A1	254428	broad.mit.edu	37	1	205764562	205764562	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:205764562T>A	ENST00000367137.3	-	9	2131	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	373					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAGGAAGGTGGAGATGCGG	0.587																																						uc001hdh.1		NA																	0				skin(2)	2						c.(1117-1119)ACC>TCC		solute carrier family 41 member 1							71.0	59.0	63.0					1																	205764562		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205764562T>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1117A>T	1.37:g.205764562T>A	ENSP00000356105:p.Thr373Ser					SLC41A1_uc001hdg.1_5'UTR	p.T373S	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		9	1989	-	Breast(84;0.0799)		373					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.1117A>T	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	T	33	5.204753	0.95033	.	.	ENSG00000133065	ENST00000367137	T	0.34667	1.35	5.35	5.35	0.76521	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60068	-0.7335	10	0.46703	T	0.11	-12.5255	15.1443	0.72637	0.0:0.0:0.0:1.0	.	373	Q8IVJ1	S41A1_HUMAN	S	373	ENSP00000356105:T373S	ENSP00000356105:T373S	T	-	1	0	SLC41A1	204031185	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.525000	0.81892	2.240000	0.73641	0.533000	0.62120	ACC		0.587	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			19	29	0	0	0	0	19	29				
RYR2	6262	broad.mit.edu	37	1	237982376	237982376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:237982376G>A	ENST00000366574.2	+	101	14791	c.14474G>A	c.(14473-14475)gGa>gAa	p.G4825E	RYR2_ENST00000360064.6_Missense_Mutation_p.G4831E|RYR2_ENST00000542537.1_Missense_Mutation_p.G4809E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4825					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)			CGTGCTGGAGGAGGGATCGGG	0.408																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14473-14475)GGA>GAA		cardiac muscle ryanodine receptor							189.0	189.0	189.0					1																	237982376		1934	4125	6059	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.chr1:237982376G>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.14474G>A	1.37:g.237982376G>A	ENSP00000355533:p.Gly4825Glu					RYR2_uc010pyb.1_Missense_Mutation_p.G258E	p.G4825E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14594	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4825			Helical; Name=M9; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14474G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098467	0.76870	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98400	-4.91;-4.91;-4.91	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.64402	U	0.000013	D	0.99342	0.9769	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98776	1.0730	10	0.87932	D	0	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	258;4825	F5H3C7;Q92736	.;RYR2_HUMAN	E	4825;4831;4809;258	ENSP00000355533:G4825E;ENSP00000353174:G4831E;ENSP00000443798:G4809E	ENSP00000353174:G4831E	G	+	2	0	RYR2	236048999	1.000000	0.71417	0.990000	0.47175	0.270000	0.26580	9.813000	0.99286	2.630000	0.89119	0.655000	0.94253	GGA		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	37	0	0	0	0	15	37				
RGS7	6000	broad.mit.edu	37	1	240975267	240975267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:240975267C>A	ENST00000407727.1	-	13	1032	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RGS7_ENST00000348120.2_Nonsense_Mutation_p.E292*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E319*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E345*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E292*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E261*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.E345*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	345	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGGAACTGTTCTCTCCCAACT	0.413																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1033-1035)GAA>TAA		regulator of G-protein signaling 7							92.0	96.0	94.0					1																	240975267		2203	4300	6503	SO:0001587	stop_gained	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240975267C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1033G>T	1.37:g.240975267C>A	ENSP00000384428:p.Glu345*					RGS7_uc010pyh.1_Nonsense_Mutation_p.E319*|RGS7_uc010pyj.1_Nonsense_Mutation_p.E261*|RGS7_uc001hyu.2_Nonsense_Mutation_p.E345*|RGS7_uc009xgn.1_Nonsense_Mutation_p.E292*|RGS7_uc001hyw.2_Nonsense_Mutation_p.E345*|RGS7_uc001hyt.2_Nonsense_Mutation_p.E177*	p.E345*	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1363	-		all_cancers(173;0.0131)	345			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37	c.1033G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.954696	0.97139	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	.	.	.	X	319;345;345;345;176;292;261;345;345;292	.	ENSP00000331485:E319X	E	-	1	0	RGS7	239041890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	GAA		0.413	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		33	84	1	0	4.32e-19	5.37e-19	33	84				
CUBN	8029	broad.mit.edu	37	10	16949520	16949520	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:16949520G>T	ENST00000377833.4	-	49	7757	c.7692C>A	c.(7690-7692)tcC>tcA	p.S2564S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2564	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTTCACTGGAGGTATAGG	0.463																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7690-7692)TCC>TCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						82.0	69.0	73.0					10																	16949520		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16949520G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7692C>A	10.37:g.16949520G>T						CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	p.S2564S	NM_001081	NP_001072	O60494	CUBN_HUMAN			49	7744	-			2564			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7692C>A	CCDS7113.1																																																																																				0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	48	1	0	4.38e-07	4.97e-07	11	48				
SPAG6	9576	broad.mit.edu	37	10	22676869	22676869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:22676869T>A	ENST00000376624.3	+	6	938	c.796T>A	c.(796-798)Tac>Aac	p.Y266N	SPAG6_ENST00000376603.2_Missense_Mutation_p.Y342N|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.Y266N|SPAG6_ENST00000538630.1_Missense_Mutation_p.Y241N|RP11-301N24.3_ENST00000422675.1_RNA	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	266					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CAAGGATGAATACGTGAAGAA	0.373																																						uc001iri.2		NA																	0				breast(1)	1						c.(796-798)TAC>AAC		sperm associated antigen 6 isoform 1							79.0	79.0	79.0					10																	22676869		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22676869T>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.796T>A	10.37:g.22676869T>A	ENSP00000365811:p.Tyr266Asn					SPAG6_uc001irj.2_Missense_Mutation_p.Y266N|SPAG6_uc010qct.1_Missense_Mutation_p.Y236N|SPAG6_uc009xkh.2_Missense_Mutation_p.Y244N	p.Y266N	NM_012443	NP_036575	O75602	SPAG6_HUMAN			6	938	+			266			ARM 6.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.796T>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647228	0.29246	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.64	1.85	0.25348	Armadillo-like helical (1);Armadillo-type fold (1);	0.282033	0.41500	D	0.000870	T	0.47322	0.1439	L	0.47016	1.485	0.47511	D	0.999448	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.15052	0.002;0.012;0.005;0.001	T	0.20974	-1.0259	10	0.27785	T	0.31	-8.8741	4.3285	0.11051	0.1239:0.0674:0.1297:0.6789	.	241;342;266;266	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	N	266;342;241;266	ENSP00000365811:Y266N;ENSP00000365788:Y342N;ENSP00000441325:Y241N;ENSP00000323599:Y266N	ENSP00000323599:Y266N	Y	+	1	0	SPAG6	22716875	1.000000	0.71417	0.020000	0.16555	0.997000	0.91878	4.073000	0.57570	0.056000	0.16144	0.533000	0.62120	TAC		0.373	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			19	39	0	0	0	0	19	39				
ZNF33B	7582	broad.mit.edu	37	10	43088789	43088789	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:43088789T>C	ENST00000359467.3	-	5	1723	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGGTCTGACTTCAAGCAGAAG	0.423																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(1609-1611)AAG>GAG		zinc finger protein 33B							127.0	123.0	124.0					10																	43088789		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088789T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1609A>G	10.37:g.43088789T>C	ENSP00000352444:p.Lys537Glu					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K425E|ZNF33B_uc001jad.2_Intron	p.K537E	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1724	-			537			C2H2-type 8.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1609A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091597	0.36952	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.13420	2.59	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003056	T	0.28433	0.0703	M	0.73962	2.25	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.03619	-1.1019	10	0.33141	T	0.24	.	5.039	0.14449	0.2663:0.0:0.0:0.7337	.	537	Q06732	ZN33B_HUMAN	E	537;503	ENSP00000352444:K537E	ENSP00000352444:K537E	K	-	1	0	ZNF33B	42408795	0.000000	0.05858	0.990000	0.47175	0.871000	0.50021	-0.005000	0.12855	1.449000	0.47699	0.341000	0.21757	AAG		0.423	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		27	110	0	0	0	0	27	110				
SFTPD	6441	broad.mit.edu	37	10	81697729	81697729	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:81697729T>C	ENST00000372292.3	-	8	1047	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	336	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGGGGCCCAGTTGGAATAGAC	0.552																																						uc001kbh.2		NA																	0				skin(1)	1						c.(1006-1008)AAC>AGC		pulmonary surfactant-associated protein D							148.0	150.0	150.0					10																	81697729		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81697729T>C	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.1007A>G	10.37:g.81697729T>C	ENSP00000361366:p.Asn336Ser					MBL1P_uc001kbf.2_Intron	p.N336S	NM_003019	NP_003010	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		8	1050	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		336			C-type lectin.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.1007A>G	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397851	0.42512	.	.	ENSG00000133661	ENST00000372292	T	0.30182	1.54	5.63	5.63	0.86233	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000005	T	0.53318	0.1789	M	0.66378	2.025	0.38607	D	0.950805	D	0.89917	1.0	D	0.80764	0.994	T	0.59825	-0.7381	10	0.66056	D	0.02	-21.9572	13.7596	0.62956	0.0:0.0:0.0:1.0	.	336	P35247	SFTPD_HUMAN	S	336	ENSP00000361366:N336S	ENSP00000361366:N336S	N	-	2	0	SFTPD	81687709	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.622000	0.67750	2.127000	0.65507	0.482000	0.46254	AAC		0.552	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			25	145	0	0	0	0	25	145				
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:133758916G>A	ENST00000422256.2	+	4	577	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	258					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R227H(1)|p.R31H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.582																																						uc001lks.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(673-675)CGC>CAC		protein phosphatase 2, regulatory subunit B,							118.0	124.0	122.0					10																	133758916		2202	4300	6502	SO:0001583	missense	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133758916G>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.92G>A	10.37:g.133758916G>A	ENSP00000406501:p.Arg31His					PPP2R2D_uc001lkr.2_Missense_Mutation_p.R31H|PPP2R2D_uc001lkt.2_Missense_Mutation_p.R31H|PPP2R2D_uc009yay.2_Missense_Mutation_p.R93H	p.R225H	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	5	917	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	258			WD 4.		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.674G>A		.	.	.	.	.	.	.	.	.	.	G	15.77	2.932079	0.52866	.	.	ENSG00000175470	ENST00000455566;ENST00000422256	T;T	0.32988	1.43;1.43	3.57	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54695	0.1874	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.64114	-0.6483	9	0.87932	D	0	-21.1785	15.3552	0.74421	0.0:0.0:1.0:0.0	.	258	Q66LE6	2ABD_HUMAN	H	227;31	ENSP00000399970:R227H;ENSP00000406501:R31H	ENSP00000406501:R31H	R	+	2	0	PPP2R2D	133608906	0.976000	0.34144	0.065000	0.19835	0.287000	0.27160	6.563000	0.73964	2.013000	0.59113	0.655000	0.94253	CGC		0.582	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		20	46	0	0	0	0	20	46				
TAF10	6881	broad.mit.edu	37	11	6632501	6632501	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:6632501G>A	ENST00000299424.4	-	4	963	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	162					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTGAGATGAATTTCTGGG	0.488																																						uc001mej.1		NA																	0					0						c.(484-486)TTC>TTT		TBP-related factor 10							86.0	89.0	88.0					11																	6632501		2201	4296	6497	SO:0001819	synonymous_variant	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632501G>A	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.486C>T	11.37:g.6632501G>A							p.F162F	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	4	511	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	162					O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	c.486C>T	CCDS7769.1																																																																																				0.488	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		37	74	0	0	0	0	37	74				
OR5D14	219436	broad.mit.edu	37	11	55563785	55563785	+	Missense_Mutation	SNP	A	A	G	rs149902192		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55563785A>G	ENST00000335605.1	+	1	754	c.754A>G	c.(754-756)Atc>Gtc	p.I252V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I252F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458																																						uc010rim.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(754-756)ATC>GTC		olfactory receptor, family 5, subfamily D,		A	VAL/ILE	1,4399	2.1+/-5.4	0,1,2199	101.0	94.0	96.0		754	5.1	1.0	11	dbSNP_134	96	0,8592		0,0,4296	no	missense	OR5D14	NM_001004735.1	29	0,1,6495	GG,GA,AA		0.0,0.0227,0.0077	benign	252/315	55563785	1,12991	2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563785A>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.754A>G	11.37:g.55563785A>G	ENSP00000334456:p.Ile252Val						p.I252V	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	754	+		all_epithelial(135;0.196)	252			Helical; Name=6; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.754A>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	4.842	0.156611	0.09236	2.27E-4	0.0	ENSG00000186113	ENST00000335605	T	0.00107	8.72	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000466	T	0.00144	0.0004	L	0.31371	0.925	0.25439	N	0.98811	B	0.33826	0.427	B	0.40940	0.344	T	0.45644	-0.9247	10	0.35671	T	0.21	-21.1989	10.5383	0.45018	0.8381:0.1619:0.0:0.0	.	252	Q8NGL3	OR5DE_HUMAN	V	252	ENSP00000334456:I252V	ENSP00000334456:I252V	I	+	1	0	OR5D14	55320361	0.000000	0.05858	0.983000	0.44433	0.089000	0.18198	-0.560000	0.05964	1.916000	0.55485	0.523000	0.50628	ATC		0.458	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		24	62	0	0	0	0	24	62				
OR5D18	219438	broad.mit.edu	37	11	55587248	55587248	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55587248T>A	ENST00000333976.4	+	1	163	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGTTGATTGTGATCATCAAA	0.458																																						uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(142-144)GTG>GAG		olfactory receptor, family 5, subfamily D,							219.0	200.0	206.0					11																	55587248		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587248T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.143T>A	11.37:g.55587248T>A	ENSP00000335025:p.Val48Glu						p.V48E	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	143	+		all_epithelial(135;0.208)	48			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.143T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.27	1.302762	0.23736	.	.	ENSG00000186119	ENST00000333976	T	0.01139	5.28	4.84	0.947	0.19555	GPCR, rhodopsin-like superfamily (1);	0.730031	0.11269	N	0.581735	T	0.03608	0.0103	M	0.86502	2.82	0.09310	N	1	B	0.28324	0.207	B	0.40940	0.344	T	0.24870	-1.0148	10	0.45353	T	0.12	-3.375	6.379	0.21523	0.0:0.1328:0.1375:0.7297	.	48	Q8NGL1	OR5DI_HUMAN	E	48	ENSP00000335025:V48E	ENSP00000335025:V48E	V	+	2	0	OR5D18	55343824	0.000000	0.05858	0.004000	0.12327	0.285000	0.27093	-0.425000	0.07017	0.339000	0.23719	0.514000	0.50259	GTG		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		69	119	0	0	0	0	69	119				
KCNE3	10008	broad.mit.edu	37	11	74168458	74168458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:74168458G>A	ENST00000310128.4	-	3	570	c.151C>T	c.(151-153)Cct>Tct	p.P51S	RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.P51S	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	51					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TCACGGCCAGGTAGGCTGGCC	0.557																																						uc001ovc.2		NA																	0				ovary(1)	1						c.(151-153)CCT>TCT		potassium voltage-gated channel, Isk-related							69.0	60.0	63.0					11																	74168458		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168458G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.151C>T	11.37:g.74168458G>A	ENSP00000310557:p.Pro51Ser					KCNE3_uc001ovd.2_Missense_Mutation_p.P51S	p.P51S	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN			3	498	-	Breast(11;2.86e-06)		51						Missense_Mutation	SNP	ENST00000310128.4	37	c.151C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	3.599	-0.081943	0.07141	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.22	4.79	2.92	0.33932	.	0.673667	0.14823	N	0.296365	T	0.74359	0.3706	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.59820	-0.7382	10	0.02654	T	1	-38.8592	7.403	0.26975	0.1962:0.0:0.8038:0.0	.	51	Q9Y6H6	KCNE3_HUMAN	S	51	ENSP00000310557:P51S;ENSP00000433633:P51S;ENSP00000431739:P51S;ENSP00000433697:P51S	ENSP00000310557:P51S	P	-	1	0	KCNE3	73846106	.	.	0.153000	0.22517	0.547000	0.35210	.	.	0.748000	0.32831	-0.291000	0.09656	CCT		0.557	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		19	116	0	0	0	0	19	116				
DYNC2H1	79659	broad.mit.edu	37	11	103175431	103175431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:103175431G>C	ENST00000375735.2	+	77	11508	c.11364G>C	c.(11362-11364)tgG>tgC	p.W3788C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3795C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3788	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTATCTTGGCTGCCAGTTC	0.378																																						uc001pho.2		NA																	0					0						c.(11362-11364)TGG>TGC		dynein, cytoplasmic 2, heavy chain 1							97.0	95.0	96.0					11																	103175431		1864	4108	5972	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103175431G>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11364G>C	11.37:g.103175431G>C	ENSP00000364887:p.Trp3788Cys					DYNC2H1_uc001phn.1_Missense_Mutation_p.W3795C|DYNC2H1_uc009yxe.1_Intron	p.W3788C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	77	11508	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3788			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11364G>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958228	0.73902	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.16457	2.34;2.34	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65734	-0.6096	10	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	3788;3795	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3788;3795;34	ENSP00000364887:W3788C;ENSP00000381167:W3795C	ENSP00000364887:W3788C	W	+	3	0	DYNC2H1	102680641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.492000	0.97957	2.687000	0.91594	0.655000	0.94253	TGG		0.378	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		21	645	0	0	0	0	21	645				
GALNT8	26290	broad.mit.edu	37	12	4854710	4854710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:4854710G>A	ENST00000252318.2	+	5	1313	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	326					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	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)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCAGTTGATGGGTTTAACTG	0.493																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(976-978)GGG>AGG		polypeptide N-acetylgalactosaminyltransferase 8							123.0	104.0	110.0					12																	4854710		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4854710G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.976G>A	12.37:g.4854710G>A	ENSP00000252318:p.Gly326Arg						p.G326R	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			5	1068	+			326			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.976G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752296	0.69533	.	.	ENSG00000130035	ENST00000252318	T	0.59364	0.27	4.2	4.2	0.49525	.	0.143859	0.43416	D	0.000571	T	0.80581	0.4650	M	0.92507	3.315	0.38655	D	0.951938	D	0.89917	1.0	D	0.91635	0.999	D	0.86881	0.2042	10	0.87932	D	0	.	14.0866	0.64962	0.0:0.0:1.0:0.0	.	326	Q9NY28	GALT8_HUMAN	R	326	ENSP00000252318:G326R	ENSP00000252318:G326R	G	+	1	0	GALNT8	4724971	1.000000	0.71417	0.186000	0.23195	0.800000	0.45204	8.891000	0.92485	2.175000	0.68902	0.491000	0.48974	GGG		0.493	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		11	49	0	0	0	0	11	49				
ENO2	2026	broad.mit.edu	37	12	7028878	7028878	+	Silent	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:7028878T>A	ENST00000535366.1	+	7	1442	c.816T>A	c.(814-816)acT>acA	p.T272T	ENO2_ENST00000229277.1_Silent_p.T272T|ENO2_ENST00000545045.2_Silent_p.T153T|ENO2_ENST00000541477.1_Silent_p.T272T|ENO2_ENST00000538763.1_Silent_p.T229T|ENO2_ENST00000544774.1_Silent_p.T229T			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	272					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATACATCACTGGGGACCAGC	0.542																																						uc001qru.1		NA																	0					0						c.(814-816)ACT>ACA		enolase 2							93.0	81.0	85.0					12																	7028878		2203	4300	6503	SO:0001819	synonymous_variant	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7028878T>A	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.816T>A	12.37:g.7028878T>A						ENO2_uc009zfi.1_Silent_p.T272T|ENO2_uc010sfq.1_Silent_p.T229T|ENO2_uc001qrv.1_Silent_p.T272T	p.T272T	NM_001975	NP_001966	P09104	ENOG_HUMAN			8	1038	+			272					B7Z2X9|Q96J33	Silent	SNP	ENST00000535366.1	37	c.816T>A	CCDS8570.1																																																																																				0.542	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			21	54	0	0	0	0	21	54				
SLCO1B1	10599	broad.mit.edu	37	12	21358894	21358894	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:21358894G>C	ENST00000256958.2	+	11	1520	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	475	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CCAGTCTGTGGAAACAATGGA	0.378																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1423-1425)GGA>GCA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						142.0	140.0	140.0					12																	21358894		2203	4299	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21358894G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1424G>C	12.37:g.21358894G>C	ENSP00000256958:p.Gly475Ala						p.G475A	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			11	1528	+			475			Extracellular (Potential).|Kazal-like.		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1424G>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147225	0.57151	.	.	ENSG00000134538	ENST00000256958	D	0.83163	-1.69	4.06	3.08	0.35506	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.157358	0.56097	D	0.000031	D	0.87613	0.6221	M	0.74389	2.26	0.43942	D	0.996605	P	0.44877	0.845	P	0.57324	0.818	D	0.87581	0.2484	10	0.52906	T	0.07	.	10.3147	0.43729	0.0:0.2016:0.7983:0.0	.	475	Q9Y6L6	SO1B1_HUMAN	A	475	ENSP00000256958:G475A	ENSP00000256958:G475A	G	+	2	0	SLCO1B1	21250161	1.000000	0.71417	0.863000	0.33907	0.973000	0.67179	3.586000	0.53950	1.783000	0.52377	0.484000	0.47621	GGA		0.378	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		17	110	0	0	0	0	17	110				
KCNH3	23416	broad.mit.edu	37	12	49951243	49951243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49951243G>A	ENST00000257981.6	+	15	3019	c.2759G>A	c.(2758-2760)cGg>cAg	p.R920Q	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	920					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCGTGCCCTCGGGCATCGGGA	0.677																																						uc001ruh.1		NA																	0					0						c.(2758-2760)CGG>CAG		potassium voltage-gated channel, subfamily H							24.0	27.0	26.0					12																	49951243		2202	4299	6501	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951243G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2759G>A	12.37:g.49951243G>A	ENSP00000257981:p.Arg920Gln					KCNH3_uc010smj.1_Missense_Mutation_p.R860Q	p.R920Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			15	3019	+			920			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2759G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	0.790	-0.759169	0.03019	.	.	ENSG00000135519	ENST00000257981	D	0.98550	-4.99	4.05	-0.129	0.13502	.	0.875803	0.09453	N	0.800137	D	0.92485	0.7614	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	D	0.85520	0.1203	10	0.25751	T	0.34	.	6.5179	0.22258	0.4836:0.0:0.5164:0.0	.	920	Q9ULD8	KCNH3_HUMAN	Q	920	ENSP00000257981:R920Q	ENSP00000257981:R920Q	R	+	2	0	KCNH3	48237510	0.020000	0.18652	0.007000	0.13788	0.010000	0.07245	-0.119000	0.10676	-0.217000	0.10033	-0.367000	0.07326	CGG		0.677	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		4	18	0	0	0	0	4	18				
KRT5	3852	broad.mit.edu	37	12	52909018	52909018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:52909018A>T	ENST00000252242.4	-	9	1871	c.1481T>A	c.(1480-1482)gTc>gAc	p.V494D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	494	Tail.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCTTGTGACAACAGCTGC	0.587																																						uc001san.2		NA																	0					0						c.(1480-1482)GTC>GAC		keratin 5							54.0	53.0	53.0					12																	52909018		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52909018A>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1481T>A	12.37:g.52909018A>T	ENSP00000252242:p.Val494Asp						p.V494D	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1644	-			494			Tail.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1481T>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283912	0.59867	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.84944	-1.92	5.57	5.57	0.84162	.	0.579531	0.14446	N	0.319073	D	0.89203	0.6648	L	0.60067	1.865	0.52099	D	0.999947	D	0.58620	0.983	P	0.58520	0.84	D	0.88476	0.3065	10	0.59425	D	0.04	.	13.0962	0.59192	1.0:0.0:0.0:0.0	.	494	P13647	K2C5_HUMAN	D	494;459	ENSP00000252242:V494D	ENSP00000252242:V494D	V	-	2	0	KRT5	51195285	0.988000	0.35896	0.997000	0.53966	0.369000	0.29798	2.478000	0.45189	2.112000	0.64535	0.533000	0.62120	GTC		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			12	26	0	0	0	0	12	26				
METTL21B	25895	broad.mit.edu	37	12	58166597	58166597	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:58166597G>C	ENST00000300209.8	+	1	215	c.90G>C	c.(88-90)aaG>aaC	p.K30N	AC025165.1_ENST00000582738.1_RNA|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_5'Flank|METTL21B_ENST00000548256.1_Intron|METTL21B_ENST00000333012.5_Missense_Mutation_p.K30N|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL1_ENST00000257848.7_5'Flank|RP11-571M6.15_ENST00000471530.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	30						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						ACTCGGAGAAGAGCCAGTTCT	0.652																																						uc001sqg.2		NA																	0					0						c.(88-90)AAG>AAC		hypothetical protein LOC25895 isoform a							62.0	60.0	61.0					12																	58166597		2203	4300	6503	SO:0001583	missense	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58166597G>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.90G>C	12.37:g.58166597G>C	ENSP00000300209:p.Lys30Asn					METTL1_uc010ssd.1_5'Flank|METTL1_uc009zqc.2_5'Flank|FAM119B_uc001sqf.2_Missense_Mutation_p.K30N|FAM119B_uc009zqd.2_RNA	p.K30N	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN			1	215	+	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		30					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.90G>C	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662679	0.29515	.	.	ENSG00000123427	ENST00000300209;ENST00000333012	T;T	0.24151	3.09;1.87	5.35	-0.0483	0.13839	.	0.492283	0.18653	N	0.134937	T	0.08980	0.0222	N	0.08118	0	0.23916	N	0.996474	B;B	0.32160	0.019;0.358	B;B	0.31101	0.011;0.124	T	0.25433	-1.0132	10	0.20519	T	0.43	.	3.0424	0.06142	0.2125:0.1197:0.5445:0.1232	.	30;30	Q96AZ1;Q96AZ1-2	MT21B_HUMAN;.	N	30	ENSP00000300209:K30N;ENSP00000327425:K30N	ENSP00000300209:K30N	K	+	3	2	METTL21B	56452864	0.998000	0.40836	0.339000	0.25562	0.659000	0.38960	0.421000	0.21280	-0.297000	0.08934	0.462000	0.41574	AAG		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		16	42	0	0	0	0	16	42				
OAS2	4939	broad.mit.edu	37	12	113435452	113435452	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:113435452T>A	ENST00000342315.4	+	4	969	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.L252Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	252	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAACCGTACTGGAGCTGATC	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(754-756)CTG>CAG		2'-5'-oligoadenylate synthetase 2 isoform 1							122.0	107.0	112.0					12																	113435452		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113435452T>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.755T>A	12.37:g.113435452T>A	ENSP00000342278:p.Leu252Gln					OAS2_uc001tui.1_Missense_Mutation_p.L252Q	p.L252Q	NM_016817	NP_058197	P29728	OAS2_HUMAN			4	895	+			252			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.755T>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826530	0.50739	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.61040	0.14;0.14;0.14	4.06	4.06	0.47325	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.29348	U	0.012412	T	0.78310	0.4263	M	0.90870	3.155	0.35268	D	0.780186	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85778	0.1359	10	0.87932	D	0	-17.5651	9.5731	0.39440	0.0:0.0:0.0:1.0	.	252;252	P29728;P29728-2	OAS2_HUMAN;.	Q	252;252;177	ENSP00000342278:L252Q;ENSP00000376362:L252Q;ENSP00000446977:L177Q	ENSP00000342278:L252Q	L	+	2	0	OAS2	111919835	0.691000	0.27709	0.029000	0.17559	0.007000	0.05969	4.088000	0.57678	1.822000	0.53115	0.377000	0.23210	CTG		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			16	41	0	0	0	0	16	41				
ULK1	8408	broad.mit.edu	37	12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	rs147399196	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:132401102C>T	ENST00000321867.4	+	20	2389	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	680					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687													C|||	13	0.00259585	0.0076	0.0	5008	,	,		15062	0.0		0.002	False		,,,				2504	0.001					uc001uje.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2038-2040)CGG>TGG		Unc-51-like kinase 1		C	TRP/ARG	4,4368		0,4,2182	19.0	24.0	22.0		2038	2.4	0.9	12	dbSNP_134	22	3,8569		0,3,4283	yes	missense	ULK1	NM_003565.2	101	0,7,6465	TT,TC,CC		0.035,0.0915,0.0541	probably-damaging	680/1051	132401102	7,12937	2186	4286	6472	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132401102C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2038C>T	12.37:g.132401102C>T	ENSP00000324560:p.Arg680Trp						p.R680W	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	20	2306	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		680					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2038C>T	CCDS9274.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.37	2.814833	0.50527	9.15E-4	3.5E-4	ENSG00000177169	ENST00000321867;ENST00000541761	T;T	0.56776	0.44;0.44	5.69	2.44	0.29823	.	0.089379	0.49305	D	0.000146	T	0.65260	0.2674	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.56474	0.799	T	0.72037	-0.4411	10	0.72032	D	0.01	-39.8645	15.3796	0.74645	0.4307:0.5693:0.0:0.0	.	680	O75385	ULK1_HUMAN	W	680;28	ENSP00000324560:R680W;ENSP00000444298:R28W	ENSP00000324560:R680W	R	+	1	2	ULK1	130967055	0.950000	0.32346	0.856000	0.33681	0.063000	0.16089	1.354000	0.34056	0.706000	0.31912	0.655000	0.94253	CGG		0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			5	47	0	0	0	0	5	47				
POSTN	10631	broad.mit.edu	37	13	38137487	38137487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:38137487C>T	ENST00000379747.4	-	23	2611	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	POSTN_ENST00000541179.1_Missense_Mutation_p.E777K|POSTN_ENST00000541481.1_Missense_Mutation_p.E745K|POSTN_ENST00000379749.4_Missense_Mutation_p.E804K|POSTN_ENST00000379742.4_Missense_Mutation_p.E775K|POSTN_ENST00000379743.4_Missense_Mutation_p.E805K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	832					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAACGACCTTCCCTTAATCGT	0.303																																						uc001uwo.3		NA																	0				ovary(2)	2						c.(2494-2496)GAA>AAA		periostin, osteoblast specific factor isoform 1							105.0	98.0	100.0					13																	38137487		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38137487C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2494G>A	13.37:g.38137487C>T	ENSP00000369071:p.Glu832Lys					POSTN_uc010tet.1_Missense_Mutation_p.E333K|POSTN_uc001uwp.3_Missense_Mutation_p.E775K|POSTN_uc001uwr.2_Missense_Mutation_p.E777K|POSTN_uc001uwq.2_Missense_Mutation_p.E747K	p.E832K	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	23	2612	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	832					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2494G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009551	0.35415	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92348	-2.95;-2.87;-2.78;-3.02;-2.92;-2.92	5.31	3.44	0.39384	.	0.404249	0.23947	N	0.042985	D	0.85805	0.5782	L	0.27053	0.805	0.20563	N	0.999888	B;B;B;B	0.30406	0.073;0.073;0.073;0.278	B;B;B;B	0.27887	0.037;0.037;0.037;0.084	T	0.79247	-0.1882	10	0.56958	D	0.05	.	13.0187	0.58773	0.0:0.5566:0.4434:0.0	.	777;747;775;832	Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;POSTN_HUMAN	K	777;804;832;805;775;745	ENSP00000437959:E777K;ENSP00000369073:E804K;ENSP00000369071:E832K;ENSP00000369067:E805K;ENSP00000369066:E775K;ENSP00000437953:E745K	ENSP00000369066:E775K	E	-	1	0	POSTN	37035487	0.988000	0.35896	0.921000	0.36526	0.129000	0.20672	2.066000	0.41452	1.351000	0.45789	0.655000	0.94253	GAA		0.303	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		16	39	0	0	0	0	16	39				
CYSLTR2	57105	broad.mit.edu	37	13	49281497	49281497	+	Missense_Mutation	SNP	G	G	A	rs201906229		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:49281497G>A	ENST00000282018.3	+	1	547	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483																																						uc010acx.1		NA																	0				lung(2)	2						c.(544-546)GGC>AGC		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						124.0	119.0	121.0					13																	49281497		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281497G>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.544G>A	13.37:g.49281497G>A	ENSP00000282018:p.Gly182Ser					CYSLTR2_uc010acy.1_Missense_Mutation_p.G182S|CYSLTR2_uc010acz.1_Missense_Mutation_p.G182S|CYSLTR2_uc010ada.1_Missense_Mutation_p.G182S|CYSLTR2_uc010adb.1_Missense_Mutation_p.G182S|CYSLTR2_uc010adc.1_Missense_Mutation_p.G182S|CYSLTR2_uc010add.1_Missense_Mutation_p.G182S|CYSLTR2_uc010acw.1_Missense_Mutation_p.G182S|CYSLTR2_uc001vck.2_Missense_Mutation_p.G182S	p.G182S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1227	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	182			Extracellular (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.544G>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	3.893	-0.023560	0.07634	.	.	ENSG00000152207	ENST00000282018	T	0.71103	-0.54	5.89	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	0.766478	0.11918	N	0.516965	T	0.51669	0.1688	L	0.28115	0.83	0.09310	N	1	B	0.26120	0.142	B	0.18871	0.023	T	0.25117	-1.0141	10	0.09843	T	0.71	.	11.5624	0.50785	0.4018:0.0:0.5982:0.0	.	182	Q9NS75	CLTR2_HUMAN	S	182	ENSP00000282018:G182S	ENSP00000282018:G182S	G	+	1	0	CYSLTR2	48179498	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.930000	0.03972	0.004000	0.14682	0.655000	0.94253	GGC		0.483	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			39	122	0	0	0	0	39	122				
DIAPH3	81624	broad.mit.edu	37	13	60485887	60485887	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:60485887A>T	ENST00000400324.4	-	20	2569	c.2349T>A	c.(2347-2349)ccT>ccA	p.P783P	DIAPH3_ENST00000400320.1_Silent_p.P737P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Silent_p.P772P|DIAPH3_ENST00000400319.1_Silent_p.P713P|DIAPH3_ENST00000267215.4_Silent_p.P783P|DIAPH3_ENST00000400330.1_Silent_p.P783P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	783	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAACTGCTCAGGTTCACATA	0.348																																						uc001vht.2		NA																	0				ovary(2)	2						c.(2347-2349)CCT>CCA		diaphanous homolog 3 isoform a							85.0	79.0	81.0					13																	60485887		1864	4119	5983	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60485887A>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2349T>A	13.37:g.60485887A>T						DIAPH3_uc001vhu.2_Silent_p.P520P|DIAPH3_uc001vhv.2_Silent_p.P361P	p.P783P	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	20	2568	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	783			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.2349T>A	CCDS41898.1																																																																																				0.348	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		30	56	0	0	0	0	30	56				
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1510-1512)TGC>TGT		glypican 5 precursor		C		0,4406		0,0,2203	168.0	143.0	151.0		1512	-2.8	0.6	13	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPC5	NM_004466.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		504/573	92797193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797193C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1512C>T	13.37:g.92797193C>T							p.C504C	NM_004466	NP_004457	P78333	GPC5_HUMAN			7	1878	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	504					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1512C>T	CCDS9468.1																																																																																				0.443	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		16	62	0	0	0	0	16	62				
TTC5	91875	broad.mit.edu	37	14	20768886	20768886	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:20768886C>A	ENST00000258821.3	-	3	332	c.276G>T	c.(274-276)ctG>ctT	p.L92L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	92					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CAGCCTTTGACAGAAGCTCCT	0.532																																						uc001vwt.2		NA																	0				ovary(1)	1						c.(274-276)CTG>CTT		tetratricopeptide repeat domain 5							134.0	132.0	132.0					14																	20768886		2203	4300	6503	SO:0001819	synonymous_variant	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20768886C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.276G>T	14.37:g.20768886C>A						TTC5_uc001vwu.2_5'UTR	p.L92L	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	3	333	-	all_cancers(95;0.00092)		92			TPR 1.		A8MQ18|Q96HF9	Silent	SNP	ENST00000258821.3	37	c.276G>T	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470984	0.43942	.	.	ENSG00000136319	ENST00000423949	.	.	.	5.16	-0.115	0.13560	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9306	0.09283	0.4663:0.2315:0.2283:0.0739	.	.	.	.	.	-1	.	.	.	-	.	.	TTC5	19838726	0.443000	0.25641	0.993000	0.49108	0.996000	0.88848	-0.456000	0.06754	-0.191000	0.10448	0.655000	0.94253	.		0.532	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		62	64	1	0	4.17e-40	5.25e-40	62	64				
AJUBA	84962	broad.mit.edu	37	14	23450599	23450599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:23450599G>A	ENST00000262713.2	-	1	1252	c.877C>T	c.(877-879)Cga>Tga	p.R293*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R293*|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	293	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCGGCTTCTCGCCCACCGGTG	0.706																																						uc001whz.2		NA																	0					0						c.(877-879)CGA>TGA		ajuba isoform 1							13.0	17.0	16.0					14																	23450599		2194	4287	6481	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450599G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.877C>T	14.37:g.23450599G>A	ENSP00000262713:p.Arg293*						p.R293*	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	1253	-	all_cancers(95;4.6e-05)		293			PreLIM.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.877C>T	CCDS9581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.981317|5.981317	0.97168|0.97168	.|.	.|.	ENSG00000129474|ENSG00000129474	ENST00000553736|ENST00000262713;ENST00000361265	.|.	.|.	.|.	5.25|5.25	3.28|3.28	0.37604|0.37604	.|.	.|0.645961	.|0.14165	.|N	.|0.337111	T|.	0.40015|.	0.1100|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39563|.	-0.9608|.	3|.	.|0.08599	.|T	.|0.76	.|.	13.1044|13.1044	0.59239|0.59239	0.0:0.3076:0.6924:0.0|0.0:0.3076:0.6924:0.0	.|.	.|.	.|.	.|.	V|X	66|293	.|.	.|ENSP00000262713:R293X	A|R	-|-	2|1	0|2	JUB|JUB	22520439|22520439	0.983000|0.983000	0.35010|0.35010	0.989000|0.989000	0.46669|0.46669	0.939000|0.939000	0.58152|0.58152	1.834000|1.834000	0.39171|0.39171	1.181000|1.181000	0.42912|0.42912	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.706	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			10	10	0	0	0	0	10	10				
C14orf105	55195	broad.mit.edu	37	14	57938276	57938276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:57938276G>T	ENST00000216445.3	-	6	824	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q270K|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q229K	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	230										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTCACTGCTTGATGTTTCAAA	0.358																																						uc001xcy.2		NA																	0					0						c.(688-690)CAA>AAA		hypothetical protein LOC55195							57.0	50.0	52.0					14																	57938276		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57938276G>T	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.688C>A	14.37:g.57938276G>T	ENSP00000216445:p.Gln230Lys					C14orf105_uc010trl.1_Missense_Mutation_p.Q270K|C14orf105_uc010trm.1_Missense_Mutation_p.Q141K|C14orf105_uc010trn.1_Missense_Mutation_p.Q141K|C14orf105_uc001xcz.2_Missense_Mutation_p.Q229K	p.Q230K	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			6	831	-			230					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.688C>A	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325700	0.24080	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.45276	0.9;0.9;0.9	5.09	4.2	0.49525	.	0.690983	0.13758	N	0.364776	T	0.39410	0.1077	L	0.60455	1.87	0.23893	N	0.996546	B;B;B;B	0.33103	0.397;0.397;0.058;0.058	B;B;B;B	0.37047	0.24;0.24;0.059;0.059	T	0.24225	-1.0166	10	0.15066	T	0.55	-0.0118	9.8444	0.41017	0.0963:0.0:0.9037:0.0	.	270;270;229;230	B7ZL43;F5GWJ3;E9PSE9;Q9NVL8	.;.;.;CN105_HUMAN	K	230;270;229	ENSP00000216445:Q230K;ENSP00000392368:Q270K;ENSP00000434003:Q229K	ENSP00000216445:Q230K	Q	-	1	0	C14orf105	57008029	0.061000	0.20836	0.005000	0.12908	0.012000	0.07955	2.738000	0.47401	1.273000	0.44346	0.650000	0.86243	CAA		0.358	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		12	21	1	0	1.62e-10	1.93e-10	12	21				
SIPA1L1	26037	broad.mit.edu	37	14	72054661	72054661	+	Silent	SNP	C	C	T	rs112129340		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:72054661C>T	ENST00000555818.1	+	2	420	c.72C>T	c.(70-72)gaC>gaT	p.D24D	SIPA1L1_ENST00000381232.3_Silent_p.D24D|SIPA1L1_ENST00000358550.2_Silent_p.D24D	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	24					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTGGCACAGACGGCACCCCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		16361	0.001		0.0	False		,,,				2504	0.0					uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(70-72)GAC>GAT		signal-induced proliferation-associated 1 like		C		0,4406		0,0,2203	94.0	92.0	93.0		72	-1.8	0.9	14	dbSNP_132	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		24/1805	72054661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054661C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.72C>T	14.37:g.72054661C>T						SIPA1L1_uc001xmt.2_Silent_p.D24D|SIPA1L1_uc001xmu.2_Silent_p.D24D|SIPA1L1_uc001xmv.2_Silent_p.D24D	p.D24D	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	420	+			24					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.72C>T	CCDS9807.1																																																																																				0.522	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		48	93	0	0	0	0	48	93				
NRXN3	9369	broad.mit.edu	37	14	80328189	80328189	+	Missense_Mutation	SNP	C	C	T	rs369782422		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:80328189C>T	ENST00000557594.1	+	6	2749	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	NRXN3_ENST00000428277.2_Missense_Mutation_p.T421M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.T1023M|NRXN3_ENST00000554719.1_Missense_Mutation_p.T1023M|NRXN3_ENST00000281127.7_Missense_Mutation_p.T394M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	599					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGACGAGACGCGGAACTAC	0.562																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(3067-3069)ACG>ATG		neurexin 3 isoform 1 precursor		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	93.0	85.0	88.0		1262,3068,1181	6.2	1.0	14		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN3	NM_001105250.1,NM_004796.4,NM_138970.3	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	421/460,1023/1062,394/433	80328189	1,13005	2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80328189C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1796C>T	14.37:g.80328189C>T	ENSP00000451672:p.Thr599Met					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.T599M|NRXN3_uc010asw.2_Missense_Mutation_p.T421M|NRXN3_uc001xur.3_Missense_Mutation_p.T394M	p.T1023M	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	17	3559	+		Renal(4;0.00876)	1605			Cytoplasmic (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.3068C>T		.	.	.	.	.	.	.	.	.	.	C	13.56	2.273415	0.40194	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.69926	-0.44;-0.44;1.19;1.25;1.04	6.16	6.16	0.99307	Neurexin/syndecan/glycophorin C (1);	0.056129	0.64402	D	0.000001	T	0.80919	0.4716	M	0.61703	1.905	0.31961	N	0.608444	D;D;D;D	0.89917	0.999;0.999;1.0;0.986	D;P;D;P	0.71184	0.917;0.878;0.972;0.796	T	0.79427	-0.1808	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	421;394;599;1023	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1605;1023;1023;599;394;421	ENSP00000451648:T1023M;ENSP00000338349:T1023M;ENSP00000451672:T599M;ENSP00000281127:T394M;ENSP00000394426:T421M	.	T	+	2	0	NRXN3	79397942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.902000	0.56310	2.937000	0.99478	0.650000	0.86243	ACG		0.562	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		8	18	0	0	0	0	8	18				
FLRT2	23768	broad.mit.edu	37	14	86088735	86088735	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:86088735C>G	ENST00000330753.4	+	2	1644	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	FLRT2_ENST00000554746.1_Missense_Mutation_p.Q293E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	293					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATGCTGACTCAAGGGGTTTT	0.463																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(877-879)CAA>GAA		fibronectin leucine rich transmembrane protein 2							170.0	178.0	175.0					14																	86088735		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088735C>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.877C>G	14.37:g.86088735C>G	ENSP00000332879:p.Gln293Glu					FLRT2_uc010atd.2_Missense_Mutation_p.Q293E	p.Q293E	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1644	+			293			Extracellular (Potential).|LRR 10.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.877C>G	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679854	0.29783	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.55588	0.51;0.51	5.97	5.08	0.68730	.	0.229700	0.45126	D	0.000388	T	0.35189	0.0923	N	0.12502	0.225	0.38402	D	0.945681	B	0.16396	0.017	B	0.20184	0.028	T	0.19712	-1.0297	10	0.27785	T	0.31	-11.6854	13.5011	0.61457	0.4231:0.5769:0.0:0.0	.	293	O43155	FLRT2_HUMAN	E	293	ENSP00000332879:Q293E;ENSP00000451050:Q293E	ENSP00000332879:Q293E	Q	+	1	0	FLRT2	85158488	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.070000	0.57548	1.517000	0.48917	0.655000	0.94253	CAA		0.463	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			75	205	0	0	0	0	75	205				
CAPN3	825	broad.mit.edu	37	15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:42693865C>T	ENST00000397163.3	+	11	1600	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	CAPN3_ENST00000357568.3_Missense_Mutation_p.R461C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R374C|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.R461C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R413C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	461	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R461C(1)|p.R374C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582																																						uc001zpn.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1	GRCh37	CM994189	CAPN3	M		c.(1381-1383)CGT>TGT		calpain 3 isoform a							96.0	80.0	85.0					15																	42693865		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693865C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1381C>T	15.37:g.42693865C>T	ENSP00000380349:p.Arg461Cys					CAPN3_uc001zpk.1_Missense_Mutation_p.R234C|CAPN3_uc001zpl.1_Missense_Mutation_p.R374C|CAPN3_uc010udf.1_Missense_Mutation_p.R374C|CAPN3_uc010udg.1_Missense_Mutation_p.R326C|CAPN3_uc001zpo.1_Missense_Mutation_p.R461C|CAPN3_uc001zpp.1_Missense_Mutation_p.R413C|CAPN3_uc001zpq.1_5'Flank	p.R461C	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1687	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	461			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1381C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112619	0.94339	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	4.67	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.95825	0.8641	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.993	D	0.96904	0.9662	10	0.87932	D	0	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	326;374;413;461;461;374	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	C	374;461;461;413;461	ENSP00000348667:R374C;ENSP00000380349:R461C;ENSP00000350181:R461C;ENSP00000183936:R413C;ENSP00000326281:R461C	ENSP00000326281:R461C	R	+	1	0	CAPN3	40481157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.721000	0.61951	2.433000	0.82419	0.655000	0.94253	CGT		0.582	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			7	24	0	0	0	0	7	24				
LINS	55180	broad.mit.edu	37	15	101120487	101120487	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:101120487T>G	ENST00000314742.8	-	3	692	c.470A>C	c.(469-471)tAt>tCt	p.Y157S	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.Y38S|LINS_ENST00000561308.1_Missense_Mutation_p.Y157S	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	157										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAATTGGAAATATAGAAGCAA	0.294																																						uc002bwe.2		NA																	0					0						c.(469-471)TAT>TCT		lines homolog 1							47.0	48.0	48.0					15																	101120487		2203	4299	6502	SO:0001583	missense	55180							g.chr15:101120487T>G	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.470A>C	15.37:g.101120487T>G	ENSP00000318423:p.Tyr157Ser					LINS1_uc002bwf.2_Missense_Mutation_p.Y157S|LINS1_uc002bwg.2_Missense_Mutation_p.Y157S|LINS1_uc002bwh.2_Missense_Mutation_p.Y157S|LINS1_uc010usa.1_Missense_Mutation_p.Y38S|LINS1_uc002bwi.2_Missense_Mutation_p.Y157S	p.Y157S	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		4	761	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		157					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.470A>C	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963407	0.53507	.	.	ENSG00000140471	ENST00000314742	T	0.10960	2.82	5.81	3.39	0.38822	.	0.428905	0.25885	N	0.027680	T	0.20659	0.0497	M	0.64997	1.995	0.35229	D	0.776701	P;P;D	0.64830	0.925;0.937;0.994	P;P;P	0.60117	0.447;0.584;0.869	T	0.18745	-1.0327	10	0.66056	D	0.02	-18.1913	4.5135	0.11923	0.1436:0.152:0.0:0.7044	.	38;157;157	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	S	157	ENSP00000318423:Y157S	ENSP00000318423:Y157S	Y	-	2	0	LINS	98938010	0.999000	0.42202	0.909000	0.35828	0.859000	0.49053	1.187000	0.32090	1.038000	0.40049	0.528000	0.53228	TAT		0.294	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		9	17	0	0	0	0	9	17				
ACSM2B	348158	broad.mit.edu	37	16	20554275	20554275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:20554275C>A	ENST00000329697.6	-	12	1638	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E411D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACAGCCGTCTCAACCACAG	0.557																																						uc002dhj.3		NA																	0		p.E490A(1)		skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1468-1470)GAG>GAT		acyl-CoA synthetase medium-chain family member							105.0	101.0	102.0					16																	20554275		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554275C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1470G>T	16.37:g.20554275C>A	ENSP00000327453:p.Glu490Asp					ACSM2B_uc002dhk.3_Missense_Mutation_p.E490D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E490D	p.E490D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			13	1680	-			490					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1470G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143187	0.21205	.	.	ENSG00000066813	ENST00000329697	T	0.63580	-0.05	3.1	0.979	0.19745	AMP-dependent synthetase/ligase (1);	0.289161	0.24202	N	0.040602	T	0.54581	0.1867	L	0.45698	1.435	0.58432	D	0.999991	B;B	0.26809	0.16;0.16	B;B	0.38616	0.277;0.277	T	0.51244	-0.8730	10	0.87932	D	0	-8.7215	3.8953	0.09136	0.0:0.4851:0.1853:0.3296	.	490;490	A8K051;Q68CK6	.;ACS2B_HUMAN	D	490	ENSP00000327453:E490D	ENSP00000327453:E490D	E	-	3	2	ACSM2B	20461776	0.001000	0.12720	0.006000	0.13384	0.321000	0.28281	-0.309000	0.08145	0.135000	0.18707	0.508000	0.49915	GAG		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		15	60	1	0	1.15e-07	1.32e-07	15	60				
CDH8	1006	broad.mit.edu	37	16	61687870	61687870	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:61687870T>A	ENST00000577390.1	-	12	2996	c.2042A>T	c.(2041-2043)gAc>gTc	p.D681V	CDH8_ENST00000577730.1_Missense_Mutation_p.D681V|CDH8_ENST00000299345.6_Missense_Mutation_p.D681V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	681					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTTGCAATGTCAAAAGCCTC	0.398																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(2041-2043)GAC>GTC		cadherin 8, type 2 preproprotein							136.0	127.0	130.0					16																	61687870		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687870T>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2042A>T	16.37:g.61687870T>A	ENSP00000462701:p.Asp681Val						p.D681V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2294	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	681			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2042A>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300473	0.60195	.	.	ENSG00000150394	ENST00000299345	D	0.83837	-1.77	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93249	0.7849	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94745	0.7922	10	0.72032	D	0.01	.	15.1545	0.72730	0.0:0.0:0.0:1.0	.	681	P55286	CADH8_HUMAN	V	681	ENSP00000299345:D681V	ENSP00000299345:D681V	D	-	2	0	CDH8	60245371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.164000	0.68074	0.533000	0.62120	GAC		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		43	88	0	0	0	0	43	88				
EXOC3L1	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:67218811G>A	ENST00000314586.6	-	12	2139	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	633					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCACCAAACTGAGGAAAAGCT	0.687																																						uc002erx.1		NA																	0					0						c.(1897-1899)CTC>CTT		exocyst complex component 3-like							18.0	21.0	20.0					16																	67218811		2191	4297	6488	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67218811G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1899C>T	16.37:g.67218811G>A						KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.L284L|EXOC3L_uc002ery.1_Silent_p.L535L|EXOC3L_uc010vje.1_Silent_p.L530L	p.L633L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	12	2140	-		Ovarian(137;0.0563)	633					A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.1899C>T	CCDS10832.1																																																																																				0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		3	18	0	0	0	0	3	18				
TANGO6	79613	broad.mit.edu	37	16	68894425	68894425	+	Nonsense_Mutation	SNP	G	G	T	rs370800324		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:68894425G>T	ENST00000261778.1	+	2	745	c.733G>T	c.(733-735)Gag>Tag	p.E245*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	245						integral component of membrane (GO:0016021)											ACCTGCAGAAGAGGTAAATAT	0.428																																						uc002ewi.3		NA																	0					0						c.(733-735)GAG>TAG		transmembrane and coiled-coil domains 7							47.0	47.0	47.0					16																	68894425		1899	4117	6016	SO:0001587	stop_gained	79613					integral to membrane	binding	g.chr16:68894425G>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.733G>T	16.37:g.68894425G>T	ENSP00000261778:p.Glu245*					TMCO7_uc002ewh.2_Nonsense_Mutation_p.E245*	p.E245*	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	745	+		Ovarian(137;0.0568)	245					Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.733G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371239	0.82573	.	.	ENSG00000103047	ENST00000261778	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-9.3983	10.69	0.45864	0.0893:0.0:0.9107:0.0	.	.	.	.	X	245	.	ENSP00000261778:E245X	E	+	1	0	TMCO7	67451926	1.000000	0.71417	0.992000	0.48379	0.074000	0.17049	3.895000	0.56258	2.319000	0.78375	0.655000	0.94253	GAG		0.428	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		14	40	1	0	1.58e-08	1.84e-08	14	40				
ZFHX3	463	broad.mit.edu	37	16	72993956	72993956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:72993956G>A	ENST00000268489.5	-	2	761	c.89C>T	c.(88-90)aCc>aTc	p.T30I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	30					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGAGGTGGGTGCTGTTGAG	0.627																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(88-90)ACC>ATC		zinc finger homeobox 3 isoform A							143.0	133.0	136.0					16																	72993956		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993956G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.89C>T	16.37:g.72993956G>A	ENSP00000268489:p.Thr30Ile					ZFHX3_uc002fcl.2_Intron	p.T30I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	762	-		Ovarian(137;0.13)	30					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.89C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199390	0.38806	.	.	ENSG00000140836	ENST00000268489	T	0.73897	-0.79	5.11	5.11	0.69529	.	0.125411	0.35555	N	0.003139	T	0.64148	0.2572	N	0.08118	0	0.80722	D	1	D	0.54047	0.964	P	0.46940	0.532	T	0.72312	-0.4331	10	0.56958	D	0.05	.	18.5506	0.91063	0.0:0.0:1.0:0.0	.	30	Q15911	ZFHX3_HUMAN	I	30	ENSP00000268489:T30I	ENSP00000268489:T30I	T	-	2	0	ZFHX3	71551457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.416000	0.66417	2.379000	0.81126	0.462000	0.41574	ACC		0.627	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		17	59	0	0	0	0	17	59				
LDHD	197257	broad.mit.edu	37	16	75148731	75148731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:75148731G>T	ENST00000450168.2	-	4	513	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	LDHD_ENST00000300051.4_Missense_Mutation_p.P155T	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTACCCACGGGAAACCAGAGG	0.657																																						uc002fdm.2		NA																	0					0						c.(463-465)CCC>ACC		D-lactate dehydrogenase isoform 1 precursor							60.0	65.0	63.0					16																	75148731		2198	4300	6498	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75148731G>T	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.463C>A	16.37:g.75148731G>T	ENSP00000417011:p.Pro155Thr					LDHD_uc002fdn.2_Missense_Mutation_p.P155T	p.P155T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			4	510	-			155			FAD-binding PCMH-type.			Missense_Mutation	SNP	ENST00000450168.2	37	c.463C>A	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234083	0.79688	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.96745	-4.11;-4.11	5.71	4.74	0.60224	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.051428	0.85682	N	0.000000	D	0.98406	0.9470	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99316	1.0905	10	0.72032	D	0.01	-16.5986	15.1069	0.72329	0.0:0.0:0.8573:0.1427	.	155;155	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	T	155	ENSP00000417011:P155T;ENSP00000300051:P155T	ENSP00000300051:P155T	P	-	1	0	LDHD	73706232	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	7.150000	0.77403	1.394000	0.46624	0.462000	0.41574	CCC		0.657	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		9	32	1	0	1.77e-08	2.05e-08	9	32				
ATP2A3	489	broad.mit.edu	37	17	3853822	3853822	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:3853822T>C	ENST00000352011.3	-	7	667	c.613A>G	c.(613-615)Aag>Gag	p.K205E	ATP2A3_ENST00000359983.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397035.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000309890.7_Missense_Mutation_p.K205E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	205					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCATGTTCTTCTTGTCCTGG	0.483																																					GBM(32;29 774 15719 37967)	uc002fxb.1		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(613-615)AAG>GAG		ATPase, Ca++ transporting, ubiquitous isoform b							122.0	113.0	116.0					17																	3853822		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3853822T>C		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.613A>G	17.37:g.3853822T>C	ENSP00000301387:p.Lys205Glu					ATP2A3_uc002fwx.1_Missense_Mutation_p.K205E|ATP2A3_uc002fwy.1_Missense_Mutation_p.K205E|ATP2A3_uc002fwz.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxa.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxc.1_Missense_Mutation_p.K205E|ATP2A3_uc002fxd.1_Missense_Mutation_p.K205E	p.K205E	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	7	764	-			205			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.613A>G	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314292	0.60414	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	3.76	3.76	0.43208	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	N	0.16130	0.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.964;0.971;0.964;0.964;0.964	D;P;P;P;P;P	0.79784	0.993;0.664;0.857;0.621;0.776;0.621	D	0.86783	0.1980	10	0.25106	T	0.35	.	12.2905	0.54815	0.0:0.0:0.0:1.0	.	205;205;205;205;205;205	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	E	205	ENSP00000380236:K205E;ENSP00000301387:K205E;ENSP00000353072:K205E;ENSP00000380234:K205E;ENSP00000312577:K205E;ENSP00000380229:K205E	ENSP00000312577:K205E	K	-	1	0	ATP2A3	3800571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	1.930000	0.55929	0.460000	0.39030	AAG		0.483	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		12	71	0	0	0	0	12	71				
FXR2	9513	broad.mit.edu	37	17	7495898	7495898	+	Silent	SNP	T	T	C	rs561587687		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7495898T>C	ENST00000250113.7	-	15	2083	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000538513.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	583						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GATTACGACGTTGAGGTCTTG	0.542													T|||	1	0.000199681	0.0	0.0	5008	,	,		14695	0.0		0.0	False		,,,				2504	0.001					uc002gia.1		NA																	0					0						c.(1747-1749)CAA>CAG		fragile X mental retardation syndrome related							129.0	135.0	133.0					17																	7495898		2023	4160	6183	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495898T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1749A>G	17.37:g.7495898T>C						MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.Q583Q	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	1976	-			583					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1749A>G	CCDS45604.1																																																																																				0.542	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			49	125	0	0	0	0	49	125				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	23	55	1	0	7.88e-20	9.82e-20	23	55				
MYH4	4622	broad.mit.edu	37	17	10369620	10369620	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:10369620G>A	ENST00000255381.2	-	4	428	c.318C>T	c.(316-318)ctC>ctT	p.L106L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	106	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACGCTCTTTGAGGTTATACA	0.453																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(316-318)CTC>CTT		myosin, heavy polypeptide 4, skeletal muscle							265.0	222.0	237.0					17																	10369620		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369620G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.318C>T	17.37:g.10369620G>A						uc002gml.1_Intron	p.L106L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	429	-			106			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.318C>T	CCDS11154.1																																																																																				0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	92	0	0	0	0	34	92				
DBF4B	80174	broad.mit.edu	37	17	42828265	42828265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:42828265G>A	ENST00000315005.3	+	14	1630	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	498					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCTTCCCTGAAGCCAGACC	0.587																																						uc002ihf.2		NA																	0					0						c.(1492-1494)GAA>AAA		DBF4 homolog B isoform 1							112.0	101.0	105.0					17																	42828265		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828265G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1492G>A	17.37:g.42828265G>A	ENSP00000323663:p.Glu498Lys					DBF4B_uc010wjc.1_Intron	p.E498K	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1705	+		Prostate(33;0.0322)	498					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1492G>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828634	0.32329	.	.	ENSG00000161692	ENST00000315005	T	0.54479	0.57	2.59	-1.26	0.09376	.	16.862700	0.00166	N	0.000005	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.06250	-1.0837	9	.	.	.	.	2.1517	0.03801	0.4039:0.0:0.3508:0.2454	.	498	Q8NFT6	DBF4B_HUMAN	K	498	ENSP00000323663:E498K	.	E	+	1	0	DBF4B	40183791	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-2.112000	0.01332	-0.240000	0.09696	0.313000	0.20887	GAA		0.587	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		20	105	0	0	0	0	20	105				
ZNF652	22834	broad.mit.edu	37	17	47394438	47394438	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:47394438A>C	ENST00000362063.2	-	2	968	c.650T>G	c.(649-651)gTa>gGa	p.V217G	ZNF652_ENST00000430262.2_Missense_Mutation_p.V217G	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGTGGCTCTACACTCTTCCT	0.522																																						uc002iov.3		NA																	0				ovary(1)	1						c.(649-651)GTA>GGA		zinc finger protein 652							121.0	106.0	111.0					17																	47394438		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394438A>C	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.650T>G	17.37:g.47394438A>C	ENSP00000354686:p.Val217Gly					ZNF652_uc002iow.2_Missense_Mutation_p.V217G|ZNF652_uc002iou.3_Intron	p.V217G	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1114	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		217					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.650T>G	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	4.228	0.041180	0.08196	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08458	3.09;3.09	4.95	2.76	0.32466	.	0.358037	0.33005	N	0.005396	T	0.03053	0.0090	N	0.03608	-0.345	0.45979	D	0.998799	B	0.02656	0.0	B	0.01281	0.0	T	0.47446	-0.9117	10	0.25106	T	0.35	-2.1744	4.8036	0.13308	0.6713:0.1595:0.1692:0.0	.	217	Q9Y2D9	ZN652_HUMAN	G	217	ENSP00000354686:V217G;ENSP00000416305:V217G	ENSP00000354686:V217G	V	-	2	0	ZNF652	44749437	0.852000	0.29690	1.000000	0.80357	0.981000	0.71138	1.572000	0.36461	0.405000	0.25532	-0.250000	0.11733	GTA		0.522	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		19	42	0	0	0	0	19	42				
ABCA8	10351	broad.mit.edu	37	17	66865847	66865847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:66865847C>G	ENST00000269080.2	-	36	4722	c.4585G>C	c.(4585-4587)Gag>Cag	p.E1529Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.E1569Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.E1569Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1529					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTACCCTTCTCTAATTTGAAG	0.363																																						uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(4585-4587)GAG>CAG		ATP-binding cassette, sub-family A member 8							140.0	141.0	141.0					17																	66865847		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66865847C>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4585G>C	17.37:g.66865847C>G	ENSP00000269080:p.Glu1529Gln					ABCA8_uc002jhq.2_Missense_Mutation_p.E1569Q|ABCA8_uc010wqq.1_Missense_Mutation_p.E1564Q	p.E1529Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN			36	4764	-	Breast(10;4.56e-13)		1529					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4585G>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752483	0.69533	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.89050	-2.46;-2.46	4.83	1.73	0.24493	.	0.000000	0.49916	D	0.000131	D	0.93598	0.7956	M	0.88906	2.99	0.40687	D	0.982362	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91272	0.5045	10	0.44086	T	0.13	.	7.5025	0.27526	0.0:0.7102:0.1371:0.1527	.	1569;1569;1529	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	Q	1529;1569	ENSP00000269080:E1529Q;ENSP00000402814:E1569Q	ENSP00000269080:E1529Q	E	-	1	0	ABCA8	64377442	1.000000	0.71417	0.969000	0.41365	0.939000	0.58152	5.202000	0.65169	0.338000	0.23692	0.561000	0.74099	GAG		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		56	128	0	0	0	0	56	128				
LRRC30	339291	broad.mit.edu	37	18	7231433	7231433	+	Silent	SNP	G	G	A	rs372369121		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:7231433G>A	ENST00000383467.2	+	1	311	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCGTGGTCCTGAACTTGTGCG	0.577																																						uc010wzk.1		NA																	0				ovary(1)|liver(1)	2						c.(295-297)CTG>CTA		leucine rich repeat containing 30							45.0	49.0	48.0					18																	7231433		1948	4146	6094	SO:0001819	synonymous_variant	339291							g.chr18:7231433G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.297G>A	18.37:g.7231433G>A							p.L99L	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	297	+			99			LRR 2.			Silent	SNP	ENST00000383467.2	37	c.297G>A	CCDS42409.1																																																																																				0.577	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		10	29	0	0	0	0	10	29				
ANKRD12	23253	broad.mit.edu	37	18	9256801	9256801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:9256801C>G	ENST00000262126.4	+	9	3776	c.3536C>G	c.(3535-3537)tCt>tGt	p.S1179C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1156C|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1156C	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1179						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGGAAGTCATCTTTTGTTTCA	0.383																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3535-3537)TCT>TGT		ankyrin repeat domain 12 isoform 1							45.0	45.0	45.0					18																	9256801		2202	4299	6501	SO:0001583	missense	23253					nucleus		g.chr18:9256801C>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3536C>G	18.37:g.9256801C>G	ENSP00000262126:p.Ser1179Cys					ANKRD12_uc002knw.2_Missense_Mutation_p.S1156C|ANKRD12_uc002knx.2_Missense_Mutation_p.S1156C|ANKRD12_uc010dkx.1_Missense_Mutation_p.S886C	p.S1179C	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	3793	+			1179					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.3536C>G	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286939	0.23478	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.65916	-0.18;-0.18	5.58	4.71	0.59529	.	0.657963	0.16576	N	0.208411	T	0.57858	0.2082	L	0.36672	1.1	0.09310	N	1	D;P	0.54964	0.969;0.953	P;B	0.49528	0.614;0.315	T	0.50625	-0.8806	10	0.48119	T	0.1	-28.7768	9.0567	0.36410	0.0:0.7309:0.0:0.2691	.	1156;1179	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	C	1156;1179	ENSP00000372932:S1156C;ENSP00000262126:S1179C	ENSP00000262126:S1179C	S	+	2	0	ANKRD12	9246801	0.000000	0.05858	0.427000	0.26684	0.993000	0.82548	0.908000	0.28545	1.370000	0.46153	-0.128000	0.14901	TCT		0.383	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		16	48	0	0	0	0	16	48				
CFAP53	220136	broad.mit.edu	37	18	47777156	47777156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:47777156T>A	ENST00000398545.4	-	5	1085	c.968A>T	c.(967-969)gAa>gTa	p.E323V		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTGCCTCTTCCTGTAAGTC	0.428																																						uc002lee.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(967-969)GAA>GTA		coiled-coil domain containing 11							277.0	245.0	255.0					18																	47777156		1846	4096	5942	SO:0001583	missense	220136							g.chr18:47777156T>A																												ENST00000398545.4:c.968A>T	18.37:g.47777156T>A	ENSP00000381553:p.Glu323Val						p.E323V	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1059	-			323			Potential.			Missense_Mutation	SNP	ENST00000398545.4	37	c.968A>T	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952766	0.73787	.	.	ENSG00000172361	ENST00000398545	T	0.10382	2.88	5.81	3.31	0.37934	.	0.552919	0.18713	N	0.133232	T	0.12475	0.0303	L	0.40543	1.245	0.23727	N	0.99701	D	0.54397	0.966	P	0.49637	0.617	T	0.09422	-1.0675	10	0.46703	T	0.11	-2.3577	6.6522	0.22969	0.0:0.0813:0.1549:0.7637	.	323	Q96M91	CCD11_HUMAN	V	323	ENSP00000381553:E323V	ENSP00000381553:E323V	E	-	2	0	CCDC11	46031154	0.987000	0.35691	0.995000	0.50966	0.993000	0.82548	1.767000	0.38501	1.041000	0.40125	0.533000	0.62120	GAA		0.428	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			52	182	0	0	0	0	52	182				
PIGN	23556	broad.mit.edu	37	18	59742026	59742026	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:59742026C>A	ENST00000357637.5	-	29	3020	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	PIGN_ENST00000400334.3_Missense_Mutation_p.D869Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	869					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCATAATGTCTGATATGACG	0.318																																						uc002lii.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(2605-2607)GAC>TAC		phosphatidylinositol glycan anchor biosynthesis,							49.0	45.0	47.0					18																	59742026		1800	4070	5870	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59742026C>A	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2605G>T	18.37:g.59742026C>A	ENSP00000350263:p.Asp869Tyr					PIGN_uc002lij.3_Missense_Mutation_p.D869Y	p.D869Y	NM_176787	NP_789744	O95427	PIGN_HUMAN			30	3053	-		Colorectal(73;0.187)	869			Helical; (Potential).		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.2605G>T	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367049	0.82463	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.72051	-0.62;-0.62	5.71	5.71	0.89125	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90603	0.4546	10	0.87932	D	0	-12.0025	18.6293	0.91354	0.0:1.0:0.0:0.0	.	869;869	B2RCI8;O95427	.;PIGN_HUMAN	Y	869	ENSP00000350263:D869Y;ENSP00000383188:D869Y	ENSP00000350263:D869Y	D	-	1	0	PIGN	57893006	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.286000	0.72665	2.687000	0.91594	0.655000	0.94253	GAC		0.318	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		13	17	1	0	1.36e-06	1.52e-06	13	17				
BTBD2	55643	broad.mit.edu	37	19	1993106	1993106	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:1993106C>T	ENST00000255608.4	-	3	613	c.597G>A	c.(595-597)aaG>aaA	p.K199K	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	199						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCGCGTACTTCTTGGCGG	0.632																																						uc002lup.1		NA																	0				ovary(1)|skin(1)	2						c.(595-597)AAG>AAA		BTB (POZ) domain containing 2							79.0	57.0	64.0					19																	1993106		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1993106C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.597G>A	19.37:g.1993106C>T						BTBD2_uc002luo.1_5'Flank	p.K199K	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	597	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	199					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.597G>A	CCDS12078.1																																																																																				0.632	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			5	24	0	0	0	0	5	24				
PLIN5	440503	broad.mit.edu	37	19	4523797	4523797	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:4523797C>G	ENST00000381848.3	-	8	1215	c.1135G>C	c.(1135-1137)Gcg>Ccg	p.A379P		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGGATGGGCGCGAAGGGTCCC	0.751																																						uc002mas.2		NA																	0					0						c.(1135-1137)GCG>CCG		lipid storage droplet protein 5							11.0	14.0	13.0					19																	4523797		2081	4139	6220	SO:0001583	missense	440503					lipid particle		g.chr19:4523797C>G	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1135G>C	19.37:g.4523797C>G	ENSP00000371272:p.Ala379Pro						p.A379P	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN			8	1188	-			379					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1135G>C	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862221	0.32884	.	.	ENSG00000214456	ENST00000381848	T	0.20069	2.1	4.62	0.453	0.16639	.	2.539230	0.02507	U	0.091059	T	0.22975	0.0555	N	0.24115	0.695	0.23043	N	0.99839	D	0.54047	0.964	P	0.48454	0.578	T	0.44283	-0.9338	10	0.34782	T	0.22	-16.6876	12.2752	0.54730	0.4373:0.5627:0.0:0.0	.	379	Q00G26	PLIN5_HUMAN	P	379	ENSP00000371272:A379P	ENSP00000371272:A379P	A	-	1	0	PLIN5	4474797	0.483000	0.25956	0.528000	0.27938	0.096000	0.18686	0.505000	0.22642	0.304000	0.22809	0.511000	0.50034	GCG		0.751	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		12	25	0	0	0	0	12	25				
ZNF700	90592	broad.mit.edu	37	19	12060067	12060067	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12060067A>G	ENST00000254321.5	+	4	1371	c.1228A>G	c.(1228-1230)Agg>Ggg	p.R410G	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R392G|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATATCATGAAAGGATTCACAC	0.443																																						uc002msu.2		NA																	0					0						c.(1228-1230)AGG>GGG		zinc finger protein 700							64.0	63.0	63.0					19																	12060067		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060067A>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1228A>G	19.37:g.12060067A>G	ENSP00000254321:p.Arg410Gly					ZNF700_uc010xme.1_Missense_Mutation_p.R428G|ZNF763_uc010xmf.1_Intron	p.R410G	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1354	+			410			C2H2-type 7.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1228A>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	12.93	2.085620	0.36758	.	.	ENSG00000196757	ENST00000254321	T	0.24723	1.84	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44953	0.1318	M	0.78637	2.42	0.23376	N	0.997801	D	0.76494	0.999	D	0.77557	0.99	T	0.17684	-1.0361	9	0.72032	D	0.01	.	4.5938	0.12320	0.6694:0.3305:0.0:0.0	.	410	Q9H0M5	ZN700_HUMAN	G	410	ENSP00000254321:R410G	ENSP00000254321:R410G	R	+	1	2	ZNF700	11921067	0.000000	0.05858	0.026000	0.17262	0.203000	0.24098	-0.464000	0.06688	0.524000	0.28502	0.254000	0.18369	AGG		0.443	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		22	62	0	0	0	0	22	62				
ZNF709	163051	broad.mit.edu	37	19	12575299	12575299	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12575299T>C	ENST00000397732.3	-	4	1608	c.1437A>G	c.(1435-1437)aaA>aaG	p.K479K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.K479K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCACACTGTTTACATTCAT	0.398																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3		NA																	0					0						c.(1435-1437)AAA>AAG		zinc finger protein 709 isoform a							88.0	94.0	92.0					19																	12575299		2202	4300	6502	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575299T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1437A>G	19.37:g.12575299T>C						ZNF709_uc002mtw.3_Silent_p.K447K|ZNF709_uc002mtx.3_Silent_p.K479K	p.K479K	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			4	1598	-			479			C2H2-type 14.		A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1437A>G	CCDS42504.1																																																																																				0.398	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		42	102	0	0	0	0	42	102				
MAP1S	55201	broad.mit.edu	37	19	17844128	17844128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:17844128G>T	ENST00000324096.4	+	6	3066	c.2915G>T	c.(2914-2916)cGc>cTc	p.R972L	MAP1S_ENST00000544059.2_Missense_Mutation_p.R946L|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	972	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGCGCGTGCGCGCGCTCTGC	0.672																																						uc002nhe.1		NA																	0				central_nervous_system(1)	1						c.(2914-2916)CGC>CTC		BPY2 interacting protein 1							41.0	32.0	35.0					19																	17844128		2202	4298	6500	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17844128G>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2915G>T	19.37:g.17844128G>T	ENSP00000325313:p.Arg972Leu					MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R220L|MAP1S_uc010xpv.1_Missense_Mutation_p.R946L	p.R972L	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			6	2924	+			972			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2915G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588212	0.66105	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.21734	1.99;1.99	4.63	4.63	0.57726	.	0.000000	0.49305	D	0.000155	T	0.44993	0.1320	M	0.68317	2.08	0.52501	D	0.999951	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.971	T	0.46359	-0.9197	10	0.87932	D	0	-16.4192	14.9488	0.71054	0.0:0.0:1.0:0.0	.	946;972	B4DH53;Q66K74	.;MAP1S_HUMAN	L	972;946	ENSP00000325313:R972L;ENSP00000439243:R946L	ENSP00000325313:R972L	R	+	2	0	MAP1S	17705128	1.000000	0.71417	0.856000	0.33681	0.008000	0.06430	7.661000	0.83786	2.112000	0.64535	0.655000	0.94253	CGC		0.672	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		8	12	1	0	0.00448238	0.00463789	8	12				
ZNF626	199777	broad.mit.edu	37	19	20807449	20807449	+	Missense_Mutation	SNP	G	G	T	rs372206873		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:20807449G>T	ENST00000601440.1	-	4	1380	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTGTAGTAAGGTTAGAGGAG	0.403																																						uc002npb.1		NA																	0				skin(1)	1						c.(1234-1236)CTT>ATT		zinc finger protein 626 isoform 1							56.0	58.0	58.0					19																	20807449		2148	4267	6415	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807449G>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1234C>A	19.37:g.20807449G>T	ENSP00000469958:p.Leu412Ile					ZNF626_uc002npc.1_Missense_Mutation_p.L336I	p.L412I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1384	-			412			C2H2-type 9.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1234C>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	5.716	0.316617	0.10845	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73040	0.3536	M	0.87381	2.88	0.32863	D	0.508195	P	0.43973	0.823	P	0.60068	0.868	T	0.76119	-0.3076	8	0.87932	D	0	.	7.1275	0.25479	0.0:0.0:1.0:0.0	.	412	Q68DY1	ZN626_HUMAN	I	412;336;412	.	ENSP00000445201:L412I	L	-	1	0	ZNF626	20599289	0.240000	0.23847	0.008000	0.14137	0.008000	0.06430	0.664000	0.25068	0.284000	0.22305	0.289000	0.19496	CTT		0.403	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		16	49	1	0	3.41e-10	4.03e-10	16	49				
MIA	8190	broad.mit.edu	37	19	41281724	41281724	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:41281724C>T	ENST00000263369.3	+	2	361	c.195C>T	c.(193-195)caC>caT	p.H65H	MIA-RAB4B_ENST00000600729.1_Silent_p.H65H|RAB4B_ENST00000594800.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Silent_p.H65H|RAB4B_ENST00000357052.2_5'Flank|MIA_ENST00000597784.1_Silent_p.H65H	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	65	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGACCATTCACCGGGGCCAAG	0.587																																						uc002opb.3		NA																	0					0						c.(193-195)CAC>CAT		melanoma inhibitory activity precursor							68.0	67.0	67.0					19																	41281724		2203	4300	6503	SO:0001819	synonymous_variant	8190				cell proliferation	extracellular space	growth factor activity	g.chr19:41281724C>T	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.195C>T	19.37:g.41281724C>T						MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_RNA|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	p.H65H	NM_006533	NP_006524	Q16674	MIA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)	2	343	+			65			SH3.		Q6FHV3	Silent	SNP	ENST00000263369.3	37	c.195C>T	CCDS12566.1																																																																																				0.587	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			33	62	0	0	0	0	33	62				
PTOV1	53635	broad.mit.edu	37	19	50361873	50361873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:50361873C>T	ENST00000601675.1	+	10	1108	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	PTOV1_ENST00000599732.1_Missense_Mutation_p.T335I|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.T303I|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.T303I|PTOV1_ENST00000600603.1_Missense_Mutation_p.T303I|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000391842.1_Missense_Mutation_p.T335I			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCTGGAGACACTGAAGAGC	0.667																																						uc002pqf.1		NA																	0					0						c.(1003-1005)ACA>ATA		prostate tumor overexpressed 1							43.0	30.0	34.0					19																	50361873		2201	4299	6500	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50361873C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1004C>T	19.37:g.50361873C>T	ENSP00000472816:p.Thr335Ile					PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.T303I|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.T335I	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	10	1174	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	335			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.1004C>T	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929392	0.52759	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.44	3.44	0.39384	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.070768	0.64402	D	0.000020	T	0.48259	0.1490	N	0.03608	-0.345	0.37725	D	0.925061	D;P	0.69078	0.997;0.95	D;P	0.75484	0.986;0.698	T	0.64037	-0.6501	9	0.72032	D	0.01	-22.2965	13.1875	0.59691	0.0:1.0:0.0:0.0	.	335;303	Q86YD1;Q86YD1-2	PTOV1_HUMAN;.	I	303;335	.	ENSP00000221557:T303I	T	+	2	0	PTOV1	55053685	1.000000	0.71417	0.928000	0.36995	0.164000	0.22412	5.332000	0.65911	2.228000	0.72767	0.563000	0.77884	ACA		0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		4	9	0	0	0	0	4	9				
ZNF845	91664	broad.mit.edu	37	19	53855800	53855800	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:53855800T>C	ENST00000595091.1	+	5	2091	c.1872T>C	c.(1870-1872)gtT>gtC	p.V624V	ZNF845_ENST00000458035.1_Silent_p.V624V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTGCAGTTCATTGGCGAA	0.363																																						uc010ydv.1		NA																	0					0						c.(1870-1872)GTT>GTC		zinc finger protein 845							25.0	21.0	22.0					19																	53855800		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855800T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1872T>C	19.37:g.53855800T>C						ZNF845_uc010ydw.1_Silent_p.V624V	p.V624V	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1989	+			624			C2H2-type 15.			Silent	SNP	ENST00000595091.1	37	c.1872T>C	CCDS46170.1																																																																																				0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		2	11	0	0	0	0	2	11				
LILRA2	11027	broad.mit.edu	37	19	55086773	55086773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55086773C>T	ENST00000251377.3	+	6	839	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	LILRA2_ENST00000391737.1_Missense_Mutation_p.P224S|LILRA2_ENST00000391738.3_Missense_Mutation_p.P236S|LILRA2_ENST00000251376.3_Missense_Mutation_p.P236S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	236	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TATGGTGGCCCCCGGGGAGAG	0.567																																						uc002qgg.3		NA																	0				ovary(1)	1						c.(706-708)CCC>TCC		leukocyte immunoglobulin-like receptor,							104.0	108.0	107.0					19																	55086773		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086773C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.706C>T	19.37:g.55086773C>T	ENSP00000251377:p.Pro236Ser					LILRA2_uc010ern.2_Missense_Mutation_p.P236S|LILRA2_uc002qgf.2_Missense_Mutation_p.P236S|LILRA2_uc010yfe.1_Missense_Mutation_p.P236S|LILRA2_uc010yff.1_Missense_Mutation_p.P224S|LILRA2_uc010ero.2_Missense_Mutation_p.P224S|LILRA2_uc010yfg.1_Intron	p.P236S	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	795	+			236			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.706C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	3.673	-0.067197	0.07273	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	2.8	0.546	0.17196	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.577990	0.04366	N	0.358331	T	0.06462	0.0166	N	0.04260	-0.245	0.09310	N	0.999997	B;B;B;B	0.31879	0.015;0.344;0.198;0.182	B;B;B;B	0.35240	0.037;0.189;0.088;0.198	T	0.34875	-0.9811	10	0.11182	T	0.66	.	4.8393	0.13481	0.0:0.6622:0.0:0.3378	.	236;224;236;236	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	S	236;236;236;236;224	ENSP00000388131:P236S;ENSP00000251377:P236S;ENSP00000375618:P236S;ENSP00000251376:P236S;ENSP00000375617:P224S	ENSP00000251376:P236S	P	+	1	0	LILRA2	59778585	0.000000	0.05858	0.011000	0.14972	0.017000	0.09413	-1.329000	0.02677	0.392000	0.25172	0.400000	0.26472	CCC		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			47	83	0	0	0	0	47	83				
NLRP7	199713	broad.mit.edu	37	19	55450643	55450643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55450643A>T	ENST00000590030.1	-	3	1584	c.1544T>A	c.(1543-1545)cTg>cAg	p.L515Q	NLRP7_ENST00000448121.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.L543Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.L515Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.L515Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	515							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TACTTGAATCAGGTCGGGGTT	0.567																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1543-1545)CTG>CAG		NACHT, leucine rich repeat and PYD containing 7							83.0	83.0	83.0					19																	55450643		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450643A>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1544T>A	19.37:g.55450643A>T	ENSP00000465520:p.Leu515Gln					NLRP7_uc002qig.3_Missense_Mutation_p.L515Q|NLRP7_uc002qii.3_Missense_Mutation_p.L515Q|NLRP7_uc010esk.2_Missense_Mutation_p.L515Q|NLRP7_uc010esl.2_Missense_Mutation_p.L543Q	p.L515Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1620	-			515					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1544T>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169164	0.38315	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.79141	-1.21;-1.21;-1.24;-1.24	2.34	2.34	0.29019	.	0.000000	0.27236	N	0.020292	D	0.87370	0.6160	M	0.90650	3.135	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.76372	-0.2983	10	0.87932	D	0	.	6.6004	0.22697	1.0:0.0:0.0:0.0	.	543;515;515;515	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	Q	515;515;515;543;282	ENSP00000329568:L515Q;ENSP00000409137:L515Q;ENSP00000339491:L515Q;ENSP00000414273:L543Q	ENSP00000329568:L515Q	L	-	2	0	NLRP7	60142455	0.339000	0.24784	0.049000	0.19019	0.073000	0.16967	4.146000	0.58072	1.332000	0.45431	0.379000	0.24179	CTG		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		28	66	0	0	0	0	28	66				
NLRP4	147945	broad.mit.edu	37	19	56370318	56370318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:56370318G>T	ENST00000301295.6	+	3	1981	c.1559G>T	c.(1558-1560)gGc>gTc	p.G520V	NLRP4_ENST00000346986.5_Missense_Mutation_p.G520V|NLRP4_ENST00000587891.1_Missense_Mutation_p.G445V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	520					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTTTTTTGGCTTCCAACTG	0.428																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1558-1560)GGC>GTC		NLR family, pyrin domain containing 4							80.0	86.0	84.0					19																	56370318		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370318G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1559G>T	19.37:g.56370318G>T	ENSP00000301295:p.Gly520Val					NLRP4_uc002qmf.2_Missense_Mutation_p.G445V|NLRP4_uc010etf.2_Missense_Mutation_p.G351V	p.G520V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1981	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	520					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1559G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260970	0.59431	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.88664	-2.41;-2.41	4.15	4.15	0.48705	.	.	.	.	.	D	0.93585	0.7952	M	0.73962	2.25	0.22266	N	0.999246	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85939	0.1457	9	0.72032	D	0.01	.	12.1381	0.53982	0.0:0.0:1.0:0.0	.	520;445;520	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	520	ENSP00000301295:G520V;ENSP00000344787:G520V	ENSP00000301295:G520V	G	+	2	0	NLRP4	61062130	0.057000	0.20700	0.144000	0.22314	0.476000	0.33039	1.404000	0.34623	2.307000	0.77673	0.591000	0.81541	GGC		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		24	61	1	0	1.55e-16	1.91e-16	24	61				
REG3G	130120	broad.mit.edu	37	2	79255001	79255001	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:79255001G>A	ENST00000272324.5	+	5	586	c.402G>A	c.(400-402)gaG>gaA	p.E134E	REG3G_ENST00000393897.2_Silent_p.E134E|REG3G_ENST00000409471.1_Silent_p.E88E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	134	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCATGGGAGAAAAATCCCT	0.507																																						uc002snw.2		NA																	0					0						c.(400-402)GAG>GAA		regenerating islet-derived 3 gamma precursor							146.0	142.0	143.0					2																	79255001		2203	4300	6503	SO:0001819	synonymous_variant	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255001G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.402G>A	2.37:g.79255001G>A						REG3G_uc002snx.2_Silent_p.E134E|REG3G_uc010ffu.2_Silent_p.E88E	p.E134E	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	487	+			134			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent	SNP	ENST00000272324.5	37	c.402G>A	CCDS1962.1																																																																																				0.507	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		36	41	0	0	0	0	36	41				
FOXD4L1	200350	broad.mit.edu	37	2	114257667	114257667	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:114257667C>A	ENST00000306507.5	+	1	1007	c.834C>A	c.(832-834)gcC>gcA	p.A278A		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	278	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCGCCTATGCCGGGGCACCGA	0.701																																						uc002tjw.3		NA																	0					0						c.(832-834)GCC>GCA		forkhead box D4-like 1							24.0	30.0	28.0					2																	114257667		1720	3395	5115	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257667C>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.834C>A	2.37:g.114257667C>A							p.A278A	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	1007	+			278			Pro-rich.		B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.834C>A	CCDS2117.1																																																																																				0.701	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		24	29	1	0	2.61e-14	3.15e-14	24	29				
DPP10	57628	broad.mit.edu	37	2	116485420	116485420	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:116485420A>G	ENST00000410059.1	+	8	1085	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	DPP10_ENST00000310323.8_Missense_Mutation_p.Y195C|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.Y206C|DPP10_ENST00000409163.1_Missense_Mutation_p.Y152C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	202						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATATCTACTATCAACCTGAT	0.313																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(604-606)TAT>TGT		dipeptidyl peptidase 10 isoform long							46.0	50.0	49.0					2																	116485420		2201	4288	6489	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116485420A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.605A>G	2.37:g.116485420A>G	ENSP00000386565:p.Tyr202Cys					DPP10_uc002tlb.1_Missense_Mutation_p.Y152C|DPP10_uc002tlc.1_Missense_Mutation_p.Y198C|DPP10_uc002tle.2_Missense_Mutation_p.Y206C|DPP10_uc002tlf.1_Missense_Mutation_p.Y195C	p.Y202C	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			8	1062	+			202			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.605A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263998	0.80358	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.46	5.46	0.80206	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	T	0.73360	-0.4007	10	0.87932	D	0	-6.7567	14.7176	0.69280	1.0:0.0:0.0:0.0	.	195;206;198;202	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	C	202;152;198;206;195;152	ENSP00000386565:Y202C;ENSP00000387038:Y152C;ENSP00000376854:Y198C;ENSP00000376855:Y206C;ENSP00000309066:Y195C	ENSP00000309066:Y195C	Y	+	2	0	DPP10	116201890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.114000	0.94329	2.079000	0.62486	0.482000	0.46254	TAT		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		7	32	0	0	0	0	7	32				
LRP1B	53353	broad.mit.edu	37	2	141771236	141771236	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:141771236T>G	ENST00000389484.3	-	14	3240	c.2269A>C	c.(2269-2271)Atg>Ctg	p.M757L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	757					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACCATTCATATAATCAGTC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2269-2271)ATG>CTG		low density lipoprotein-related protein 1B							133.0	127.0	129.0					2																	141771236		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771236T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2269A>C	2.37:g.141771236T>G	ENSP00000374135:p.Met757Leu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.M757L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	14	3241	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	757			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2269A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562460	0.65538	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.87172	0.6111	L	0.39633	1.23	0.47949	D	0.999551	B	0.15473	0.013	B	0.11329	0.006	T	0.82841	-0.0258	10	0.41790	T	0.15	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	757	Q9NZR2	LRP1B_HUMAN	L	757;695	ENSP00000374135:M757L	ENSP00000374135:M757L	M	-	1	0	LRP1B	141487706	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.892000	0.63193	2.203000	0.70933	0.533000	0.62120	ATG		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		33	78	0	0	0	0	33	78				
GALNT13	114805	broad.mit.edu	37	2	155102432	155102432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:155102432G>A	ENST00000392825.3	+	7	1361	c.794G>A	c.(793-795)cGc>cAc	p.R265H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R265H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	265					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTGAATTTCCGCTGGTATCCT	0.403																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(793-795)CGC>CAC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							87.0	86.0	86.0					2																	155102432		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102432G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.794G>A	2.37:g.155102432G>A	ENSP00000376570:p.Arg265His					GALNT13_uc002tyt.3_Missense_Mutation_p.R265H|GALNT13_uc010foc.1_Missense_Mutation_p.R84H|GALNT13_uc010fod.2_Missense_Mutation_p.R18H	p.R265H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			7	1361	+			265			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.794G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268256	0.95429	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.62788	0.0;0.0	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.995;0.998	P;D;D;P	0.79784	0.55;0.993;0.911;0.843	T	0.78468	-0.2192	10	0.72032	D	0.01	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	265;265;265;265	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	H	265	ENSP00000376570:R265H;ENSP00000387239:R265H	ENSP00000376570:R265H	R	+	2	0	GALNT13	154810678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.655000	0.90218	0.580000	0.79431	CGC		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		22	47	0	0	0	0	22	47				
SCN1A	6323	broad.mit.edu	37	2	166852534	166852534	+	Missense_Mutation	SNP	G	G	T	rs143088184		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:166852534G>T	ENST00000303395.4	-	24	4569	c.4570C>A	c.(4570-4572)Cct>Act	p.P1524T	SCN1A_ENST00000375405.3_Missense_Mutation_p.P1513T|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1496T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P1524T|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1524					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTGGTCGAGGTATAGGCTTT	0.338																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4537-4539)CCT>ACT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	THR/PRO,THR/PRO,THR/PRO,THR/PRO	1,4405	2.1+/-5.4	0,1,2202	128.0	123.0	124.0		4570,4486,4570,4537	5.8	1.0	2	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	38,38,38,38	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1524/2010,1496/1982,1524/2010,1513/1999	166852534	1,13005	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166852534G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4570C>A	2.37:g.166852534G>T	ENSP00000303540:p.Pro1524Thr						p.P1513T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			24	4555	-			1524			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4537C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038482	0.93630	2.27E-4	0.0	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97138	-4.26;-4.26;-4.21;-4.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	1513	P35498-2	.	T	1524;1524;1513;1496	ENSP00000407030:P1524T;ENSP00000303540:P1524T;ENSP00000364554:P1513T;ENSP00000386312:P1496T	ENSP00000303540:P1524T	P	-	1	0	SCN1A	166560780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.768000	0.95171	0.650000	0.86243	CCT		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		22	69	1	0	2.4e-15	2.91e-15	22	69				
LRP2	4036	broad.mit.edu	37	2	170063445	170063445	+	Missense_Mutation	SNP	C	C	T	rs201740125	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:170063445C>T	ENST00000263816.3	-	39	7070	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2262					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCATTGATACGAATCCTTGC	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		21601	0.0		0.0	False		,,,				2504	0.0031					uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6784-6786)CGT>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						139.0	140.0	140.0					2																	170063445		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063445C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6785G>A	2.37:g.170063445C>T	ENSP00000263816:p.Arg2262His						p.R2262H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6998	-			2262			LDL-receptor class B 23.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6785G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	4.337	0.061891	0.08339	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.89	-2.59	0.06209	Six-bladed beta-propeller, TolB-like (1);	1.051770	0.07209	N	0.858859	T	0.79488	0.4454	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64639	-0.6360	10	0.38643	T	0.18	.	5.9801	0.19403	0.0:0.2675:0.2243:0.5082	.	2262	P98164	LRP2_HUMAN	H	2262	ENSP00000263816:R2262H	ENSP00000263816:R2262H	R	-	2	0	LRP2	169771691	0.413000	0.25400	0.000000	0.03702	0.092000	0.18411	0.223000	0.17719	-0.113000	0.11958	-0.436000	0.05848	CGT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		35	107	0	0	0	0	35	107				
TTN	7273	broad.mit.edu	37	2	179587087	179587087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179587087A>G	ENST00000591111.1	-	75	21700	c.21476T>C	c.(21475-21477)tTa>tCa	p.L7159S	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L7476S|TTN_ENST00000342992.6_Missense_Mutation_p.L6232S			Q8WZ42	TITIN_HUMAN	titin	12734	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAATTTTTAAAGTTGCCAC	0.423																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18694-18696)TTA>TCA		titin isoform N2-A							47.0	47.0	47.0					2																	179587087		1867	4092	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587087A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21476T>C	2.37:g.179587087A>G	ENSP00000465570:p.Leu7159Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L2893S	p.L6232S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18919	-			7159					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18695T>C		.	.	.	.	.	.	.	.	.	.	A	12.92	2.082256	0.36758	.	.	ENSG00000155657	ENST00000342992	D	0.89415	-2.51	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96978	0.9013	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98468	1.0599	9	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	7159	Q8WZ42	TITIN_HUMAN	S	6232	ENSP00000343764:L6232S	ENSP00000343764:L6232S	L	-	2	0	TTN	179295332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.300000	0.96151	2.367000	0.80283	0.528000	0.53228	TTA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	28	0	0	0	0	13	28				
CCDC108	255101	broad.mit.edu	37	2	219886544	219886544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:219886544G>T	ENST00000341552.5	-	18	3171	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CCDC108_ENST00000441968.1_Missense_Mutation_p.L1030M|CCDC108_ENST00000453220.1_Missense_Mutation_p.L1030M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1030						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCTCCAGGTAGAGGCGG	0.602																																						uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3088-3090)CTG>ATG		coiled-coil domain containing 108 isoform 1							132.0	132.0	132.0					2																	219886544		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219886544G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3088C>A	2.37:g.219886544G>T	ENSP00000340776:p.Leu1030Met					CCDC108_uc002vjm.3_5'Flank	p.L1030M	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	18	3172	-		Renal(207;0.0915)	1030					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3088C>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016002	0.54468	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06294	3.32;3.32;3.32	5.04	3.17	0.36434	.	0.219630	0.23263	N	0.050114	T	0.14917	0.0360	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	T	0.00867	-1.1534	10	0.54805	T	0.06	-14.6484	7.4259	0.27098	0.0995:0.3159:0.5846:0.0	.	1030	Q6ZU64	CC108_HUMAN	M	1030	ENSP00000340776:L1030M;ENSP00000413377:L1030M;ENSP00000409117:L1030M	ENSP00000340776:L1030M	L	-	1	2	CCDC108	219594788	0.999000	0.42202	0.981000	0.43875	0.789000	0.44602	2.841000	0.48223	1.375000	0.46248	0.655000	0.94253	CTG		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		79	114	1	0	2.44e-56	3.08e-56	79	114				
COL4A3	1285	broad.mit.edu	37	2	228148997	228148997	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:228148997A>G	ENST00000396578.3	+	34	2979	c.2817A>G	c.(2815-2817)aaA>aaG	p.K939K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	939	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGAGATAAAGGAAATCCCG	0.502																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(2815-2817)AAA>AAG		alpha 3 type IV collagen isoform 1 precursor							68.0	76.0	74.0					2																	228148997		1842	4086	5928	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228148997A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2817A>G	2.37:g.228148997A>G						COL4A3_uc002von.1_Silent_p.K939K|COL4A3_uc002voo.1_Silent_p.K939K|COL4A3_uc002vop.1_Silent_p.K939K|uc002voq.1_Intron|uc002vor.1_Intron	p.K939K	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	34	2979	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	939			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.2817A>G	CCDS42829.1																																																																																				0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		13	30	0	0	0	0	13	30				
ILKAP	80895	broad.mit.edu	37	2	239090740	239090740	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:239090740G>T	ENST00000254654.3	-	9	977	c.802C>A	c.(802-804)Cgg>Agg	p.R268R		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	268	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCCTCATCCGCTCTTCATAC	0.498																																						uc002vxv.2		NA																	0				ovary(3)	3						c.(802-804)CGG>AGG		integrin-linked kinase-associated protein							329.0	288.0	302.0					2																	239090740		2203	4300	6503	SO:0001819	synonymous_variant	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239090740G>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.802C>A	2.37:g.239090740G>T						ILKAP_uc010zns.1_Silent_p.R200R|ILKAP_uc002vxw.2_Silent_p.R148R|ILKAP_uc010znt.1_Silent_p.R148R	p.R268R	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	9	932	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	268			PP2C-like.		B3KM39	Silent	SNP	ENST00000254654.3	37	c.802C>A	CCDS2526.1																																																																																				0.498	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		84	187	1	0	2.56e-40	3.23e-40	84	187				
SNRPB2	6629	broad.mit.edu	37	20	16712386	16712386	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:16712386T>C	ENST00000246071.6	+	2	255	c.39T>C	c.(37-39)aaT>aaC	p.N13N	RP4-705D16.3_ENST00000425939.1_RNA|SNRPB2_ENST00000478522.1_3'UTR|SNRPB2_ENST00000377943.5_Silent_p.N13N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATCAACAATATGAATGACA	0.274																																						uc002wph.1		NA																	0				large_intestine(1)	1						c.(37-39)AAT>AAC		small nuclear ribonucleoprotein polypeptide B''							69.0	73.0	72.0					20																	16712386		2201	4290	6491	SO:0001819	synonymous_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16712386T>C		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.39T>C	20.37:g.16712386T>C						SNRPB2_uc002wpi.1_Silent_p.N13N	p.N13N	NM_003092	NP_003083	P08579	RU2B_HUMAN			2	255	+			13			RRM 1.		B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	37	c.39T>C	CCDS13123.1																																																																																				0.274	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		39	102	0	0	0	0	39	102				
CST11	140880	broad.mit.edu	37	20	23433318	23433318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23433318G>A	ENST00000377009.3	-	1	164	c.131C>T	c.(130-132)gCg>gTg	p.A44V	CST11_ENST00000377007.3_Missense_Mutation_p.A44V	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	44					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTGTCCTTCGCATAGTTTTC	0.483																																						uc002wtf.1		NA																	0					0						c.(130-132)GCG>GTG		cystatin 11 isoform 1 precursor							200.0	175.0	183.0					20																	23433318		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433318G>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.131C>T	20.37:g.23433318G>A	ENSP00000366208:p.Ala44Val					CST11_uc002wtg.1_Missense_Mutation_p.A44V	p.A44V	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	165	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		44					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.131C>T	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.237710	0.01493	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20069	2.1;2.1	3.86	0.28	0.15682	Proteinase inhibitor I25, cystatin (2);	0.567643	0.17704	N	0.164834	T	0.03608	0.0103	N	0.00387	-1.565	0.09310	N	1	B;B	0.20459	0.036;0.045	B;B	0.14023	0.006;0.01	T	0.42137	-0.9469	10	0.02654	T	1	-3.6326	6.1329	0.20215	0.6808:0.0:0.3192:0.0	.	44;44	Q9H112-2;Q9H112	.;CST11_HUMAN	V	44	ENSP00000366208:A44V;ENSP00000366206:A44V	ENSP00000366206:A44V	A	-	2	0	CST11	23381318	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.006000	0.29847	0.020000	0.15106	-0.157000	0.13467	GCG		0.483	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		45	113	0	0	0	0	45	113				
CST5	1473	broad.mit.edu	37	20	23860167	23860167	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23860167G>A	ENST00000304710.4	-	1	220	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	49					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGATGGCAAAGTCCAGGGCAC	0.577																																						uc002wtr.1		NA																	0					0						c.(145-147)GAC>GAT		cystatin D precursor							203.0	185.0	191.0					20																	23860167		2203	4300	6503	SO:0001819	synonymous_variant	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860167G>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.147C>T	20.37:g.23860167G>A							p.D49D	NM_001900	NP_001891	P28325	CYTD_HUMAN			1	214	-			49					Q5JRF5|Q9UCA0	Silent	SNP	ENST00000304710.4	37	c.147C>T	CCDS13162.1																																																																																				0.577	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		59	130	0	0	0	0	59	130				
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587																																						uc002wwq.2		NA																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(1093-1095)GGA>AGA		skeletal myosin light chain kinase							119.0	95.0	103.0					20																	30414610		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30414610G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1093G>A	20.37:g.30414610G>A	ENSP00000365162:p.Gly365Arg					MYLK2_uc002wws.2_5'UTR	p.G365R	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	1195	+			365			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1093G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370531	0.82573	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.57273	0.41;0.41	3.66	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70168	0.3193	M	0.83012	2.62	0.58432	D	0.999999	D	0.67145	0.996	P	0.59595	0.86	T	0.77606	-0.2525	9	0.87932	D	0	.	14.5797	0.68278	0.0:0.0:1.0:0.0	.	365	Q9H1R3	MYLK2_HUMAN	R	365	ENSP00000365162:G365R;ENSP00000365152:G365R	ENSP00000365152:G365R	G	+	1	0	MYLK2	29878271	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.494000	0.97962	1.882000	0.54519	0.435000	0.28638	GGA		0.587	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		9	25	0	0	0	0	9	25				
PTGIS	5740	broad.mit.edu	37	20	48124503	48124503	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:48124503A>G	ENST00000244043.4	-	10	1486	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	486					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TTCCGGCTGCATCAGACCGAA	0.602																																						uc002xut.2		NA																	0				skin(2)|ovary(1)	3						c.(1456-1458)ATG>ACG		prostaglandin I2 synthase	Phenylbutazone(DB00812)						112.0	74.0	87.0					20																	48124503		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48124503A>G		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1457T>C	20.37:g.48124503A>G	ENSP00000244043:p.Met486Thr					PTGIS_uc010zyi.1_Missense_Mutation_p.M347T	p.M486T	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	1511	-			486					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1457T>C	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998841	0.35226	.	.	ENSG00000124212	ENST00000244043	T	0.01246	5.11	4.76	4.76	0.60689	.	0.487586	0.21226	N	0.078063	T	0.02888	0.0086	L	0.47016	1.485	0.36188	D	0.849858	P	0.49783	0.928	P	0.50314	0.637	T	0.64542	-0.6383	10	0.15952	T	0.53	-8.9269	13.2726	0.60170	1.0:0.0:0.0:0.0	.	486	Q16647	PTGIS_HUMAN	T	486	ENSP00000244043:M486T	ENSP00000244043:M486T	M	-	2	0	PTGIS	47557910	1.000000	0.71417	0.990000	0.47175	0.289000	0.27227	6.608000	0.74168	1.793000	0.52555	0.379000	0.24179	ATG		0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			15	36	0	0	0	0	15	36				
LAMA5	3911	broad.mit.edu	37	20	60893707	60893707	+	Splice_Site	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:60893707C>A	ENST00000252999.3	-	53	7109		c.e53-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGGCCAGCACTAGCCGAGAC	0.677																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.e53-1		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						14.0	19.0	17.0					20																	60893707		2155	4240	6395	SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60893707C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7043-1G>T	20.37:g.60893707C>A							p.L2348_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		53	7110	-	Breast(26;1.57e-08)							Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP	ENST00000252999.3	37	c.7043_splice	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	11.17	1.561255	0.27915	.	.	ENSG00000130702	ENST00000252999	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7598	0.69596	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60327102	1.000000	0.71417	0.997000	0.53966	0.144000	0.21451	6.939000	0.75911	1.796000	0.52611	0.436000	0.28706	.		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Intron	18	23	1	0	5.39e-06	5.95e-06	18	23				
BTG3	10950	broad.mit.edu	37	21	18971032	18971032	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:18971032T>A	ENST00000348354.6	-	4	678	c.422A>T	c.(421-423)gAt>gTt	p.D141V	BTG3_ENST00000339775.6_Missense_Mutation_p.D185V	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	141					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGAATGATAATCAGAGGTAAC	0.423																																						uc002ykk.2		NA																	0					0						c.(421-423)GAT>GTT		B-cell translocation gene 3 isoform b							96.0	91.0	93.0					21																	18971032		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18971032T>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.422A>T	21.37:g.18971032T>A	ENSP00000284879:p.Asp141Val					BTG3_uc002ykl.2_Missense_Mutation_p.D185V	p.D141V	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	4	682	-			141					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.422A>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316250	0.81469	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.06	5.06	0.68205	.	0.125473	0.50627	D	0.000111	T	0.70055	0.3180	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72994	-0.4122	9	0.87932	D	0	-24.7649	13.404	0.60900	0.0:0.0:0.0:1.0	.	185;141	Q14201-2;Q14201	.;BTG3_HUMAN	V	185;141	.	ENSP00000344609:D185V	D	-	2	0	BTG3	17892903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.208000	0.71279	0.528000	0.53228	GAT		0.423	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		12	25	0	0	0	0	12	25				
KRTAP13-2	337959	broad.mit.edu	37	21	31744360	31744360	+	Nonsense_Mutation	SNP	C	C	A	rs371914705		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:31744360C>A	ENST00000399889.2	-	1	197	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	58	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCAGATCTCCTGACAGCCC	0.612																																						uc002ynz.3		NA																	0					0						c.(172-174)GAG>TAG		keratin associated protein 13-2							56.0	57.0	57.0					21																	31744360		2203	4300	6503	SO:0001587	stop_gained	337959					intermediate filament		g.chr21:31744360C>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.172G>T	21.37:g.31744360C>A	ENSP00000382777:p.Glu58*						p.E58*	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	198	-			58			5 X 10 AA approximate repeats.|2.			Nonsense_Mutation	SNP	ENST00000399889.2	37	c.172G>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841409	0.32513	.	.	ENSG00000182816	ENST00000399889	.	.	.	4.29	2.39	0.29439	.	0.162518	0.27851	N	0.017588	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.3718	0.21485	0.0:0.6985:0.1938:0.1077	.	.	.	.	X	58	.	ENSP00000382777:E58X	E	-	1	0	KRTAP13-2	30666231	0.000000	0.05858	0.013000	0.15412	0.154000	0.21943	0.137000	0.15995	0.473000	0.27368	0.655000	0.94253	GAG		0.612	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			12	53	1	0	0.000978159	0.00103103	12	53				
GGTLC2	91227	broad.mit.edu	37	22	22988902	22988902	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:22988902C>G	ENST00000480559.1	+	1	87	c.87C>G	c.(85-87)ttC>ttG	p.F29L	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Missense_Mutation_p.F29L	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	29					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGCCCGAGTTCTACACGCCGG	0.607																																						uc010gtt.2		NA																	0				ovary(1)	1						c.(85-87)TTC>TTG		gamma-glutamyltransferase-like 4 isoform 1							30.0	16.0	21.0					22																	22988902		2181	4024	6205	SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22988902C>G	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.87C>G	22.37:g.22988902C>G	ENSP00000419751:p.Phe29Leu					LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.F29L	p.F29L	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	121	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	29					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.87C>G	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	c	9.045	0.990666	0.18966	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06142	3.34;3.34	.	.	.	.	0.201312	0.44097	D	0.000481	T	0.05273	0.0140	L	0.39898	1.24	0.25119	N	0.99065	B;B	0.23128	0.08;0.08	B;B	0.27608	0.05;0.081	T	0.33523	-0.9865	9	0.36615	T	0.2	-21.5492	5.8178	0.18506	0.0:0.999:0.0:0.001	.	29;29	Q14390;B7WND7	GGTL2_HUMAN;.	L	29	ENSP00000419751:F29L;ENSP00000415676:F29L	ENSP00000415676:F29L	F	+	3	2	GGTLC2	21318902	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.570000	0.23653	-0.000000	0.14550	0.000000	0.15137	TTC		0.607	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		13	15	0	0	0	0	13	15				
ASPHD2	57168	broad.mit.edu	37	22	26830196	26830196	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:26830196C>T	ENST00000215906.5	+	2	1053	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTGAGACCCTCTACAAAGCTT	0.532																																						uc003acg.2		NA																	0				ovary(1)	1						c.(613-615)CTC>CTT		aspartate beta-hydroxylase domain containing 2							60.0	62.0	62.0					22																	26830196		2203	4300	6503	SO:0001819	synonymous_variant	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830196C>T	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.615C>T	22.37:g.26830196C>T							p.L205L	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	1012	+			205			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	ENST00000215906.5	37	c.615C>T	CCDS13834.2																																																																																				0.532	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		22	28	0	0	0	0	22	28				
CACNA1I	8911	broad.mit.edu	37	22	40073401	40073401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:40073401G>T	ENST00000402142.3	+	30	4910	c.4910G>T	c.(4909-4911)gGg>gTg	p.G1637V	CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1602V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1637V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1643V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1637					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGCTCTCGGGGTGGAGCTC	0.682																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(4909-4911)GGG>GTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						23.0	24.0	23.0					22																	40073401		1933	4120	6053	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40073401G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4910G>T	22.37:g.40073401G>T	ENSP00000385019:p.Gly1637Val					CACNA1I_uc003ayd.2_Missense_Mutation_p.G1602V|CACNA1I_uc003aye.2_Missense_Mutation_p.G1552V|CACNA1I_uc003ayf.2_Missense_Mutation_p.G1517V	p.G1637V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			30	4910	+	Melanoma(58;0.0749)		1637			Helical; Name=S5 of repeat IV; (Potential).|IV.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4910G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342750	0.82022	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	4.38	4.38	0.52667	Ion transport (1);	0.291567	0.37669	N	0.001990	D	0.99199	0.9722	H	0.99312	4.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.983;1.0;1.0	D;P;D;D	0.97110	0.999;0.808;1.0;1.0	D	0.98548	1.0635	10	0.87932	D	0	.	16.7924	0.85592	0.0:0.0:1.0:0.0	.	1602;1637;1602;1637	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	V	1637;1602;1637;1602;1643;1602	ENSP00000385019:G1637V;ENSP00000384093:G1602V;ENSP00000383887:G1637V;ENSP00000385680:G1602V;ENSP00000337829:G1643V;ENSP00000383028:G1602V	ENSP00000337829:G1643V	G	+	2	0	CACNA1I	38403347	1.000000	0.71417	0.934000	0.37439	0.837000	0.47467	9.743000	0.98849	2.361000	0.80049	0.549000	0.68633	GGG		0.682	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	6	1	0	0.000602214	0.00063875	3	6				
NUP210	23225	broad.mit.edu	37	3	13370375	13370375	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:13370375C>T	ENST00000254508.5	-	31	4264	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1394					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGCACGGCCACCAGGGCCT	0.537																																						uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(4180-4182)GTG>GTA		nucleoporin 210 precursor							114.0	104.0	107.0					3																	13370375		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13370375C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4182G>A	3.37:g.13370375C>T							p.V1394V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			31	4265	-	all_neural(104;0.187)		1394			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.4182G>A	CCDS33704.1																																																																																				0.537	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		26	19	0	0	0	0	26	19				
PTPRG	5793	broad.mit.edu	37	3	62254758	62254758	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:62254758A>G	ENST00000474889.1	+	20	3300	c.2923A>G	c.(2923-2925)Aac>Gac	p.N975D	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N946D|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	975	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAATATGGAAACATTATTGT	0.363																																						uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(2923-2925)AAC>GAC		protein tyrosine phosphatase, receptor type, G							118.0	106.0	110.0					3																	62254758		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62254758A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2923A>G	3.37:g.62254758A>G	ENSP00000418112:p.Asn975Asp					PTPRG_uc003dlc.2_Missense_Mutation_p.N946D|PTPRG_uc011bfi.1_Missense_Mutation_p.N221D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.N975D	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	20	3642	+			975			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2923A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618763	0.66787	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.82526	-1.62;-1.62	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.043012	0.85682	D	0.000000	T	0.71264	0.3319	N	0.10733	0.035	0.58432	D	0.999998	B;B;B	0.15141	0.0;0.006;0.012	B;B;B	0.19946	0.002;0.009;0.027	T	0.68473	-0.5399	10	0.72032	D	0.01	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	221;946;975	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	D	975;946	ENSP00000418112:N975D;ENSP00000295874:N946D	ENSP00000295874:N946D	N	+	1	0	PTPRG	62229798	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.190000	0.94934	2.232000	0.73038	0.528000	0.53228	AAC		0.363	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		28	20	0	0	0	0	28	20				
EPHA3	2042	broad.mit.edu	37	3	89390133	89390133	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:89390133T>G	ENST00000336596.2	+	4	1107	c.882T>G	c.(880-882)agT>agG	p.S294R	EPHA3_ENST00000494014.1_Missense_Mutation_p.S294R|EPHA3_ENST00000452448.2_Missense_Mutation_p.S294R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	294	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCCTCACAGTTCTACTCAGG	0.443										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(880-882)AGT>AGG		ephrin receptor EphA3 isoform a precursor							169.0	163.0	165.0					3																	89390133		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390133T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.882T>G	3.37:g.89390133T>G	ENSP00000337451:p.Ser294Arg	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.S294R|EPHA3_uc010hon.1_RNA	p.S294R	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1107	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	294			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.882T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262961	0.59431	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.97404	-4.37;-4.37;-4.37	6.17	-2.59	0.06209	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.075617	0.85682	D	0.000000	D	0.98406	0.9470	H	0.94542	3.55	0.53688	D	0.999974	P;D	0.63880	0.801;0.993	B;D	0.65987	0.417;0.94	D	0.98688	1.0695	9	.	.	.	.	13.8882	0.63721	0.0:0.5104:0.0:0.4896	.	294;294	P29320;P29320-2	EPHA3_HUMAN;.	R	294	ENSP00000337451:S294R;ENSP00000399926:S294R;ENSP00000419190:S294R	.	S	+	3	2	EPHA3	89472823	0.996000	0.38824	0.983000	0.44433	0.989000	0.77384	0.467000	0.22035	-0.208000	0.10171	-0.250000	0.11733	AGT		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		30	84	0	0	0	0	30	84				
PLA1A	51365	broad.mit.edu	37	3	119343977	119343977	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:119343977A>T	ENST00000273371.4	+	9	1091	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	PLA1A_ENST00000495992.1_Missense_Mutation_p.H324L|PLA1A_ENST00000494440.1_Missense_Mutation_p.H324L|PLA1A_ENST00000488919.1_Missense_Mutation_p.H167L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	340					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTGCATCACAGCCTCGTG	0.498																																						uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1018-1020)CAC>CTC		phospholipase A1 member A precursor							153.0	121.0	132.0					3																	119343977		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119343977A>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1019A>T	3.37:g.119343977A>T	ENSP00000273371:p.His340Leu					PLA1A_uc003ecv.2_Missense_Mutation_p.H324L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.H167L	p.H340L	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			9	1058	+			340					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1019A>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330266	0.81690	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.94330	-2.81;-3.4;-2.79;-2.9	4.56	4.56	0.56223	.	0.092424	0.85682	D	0.000000	D	0.92309	0.7560	L	0.34521	1.04	0.40937	D	0.984436	D;D	0.58620	0.983;0.972	P;P	0.54544	0.755;0.573	D	0.93006	0.6427	10	0.59425	D	0.04	-20.0142	12.5976	0.56478	1.0:0.0:0.0:0.0	.	324;340	Q53H76-3;Q53H76	.;PLA1A_HUMAN	L	340;167;324;324	ENSP00000273371:H340L;ENSP00000420625:H167L;ENSP00000417326:H324L;ENSP00000418793:H324L	ENSP00000273371:H340L	H	+	2	0	PLA1A	120826667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.643000	0.67895	2.058000	0.61347	0.533000	0.62120	CAC		0.498	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			19	34	0	0	0	0	19	34				
MYLK	4638	broad.mit.edu	37	3	123512632	123512632	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:123512632C>T	ENST00000475616.1	-	1	56	c.57G>A	c.(55-57)gtG>gtA	p.V19V	MYLK_ENST00000360304.3_Silent_p.V19V|MYLK_ENST00000346322.5_Silent_p.V19V|MYLK_ENST00000359169.1_Silent_p.V19V|MYLK_ENST00000360772.3_Silent_p.V19V			Q15746	MYLK_HUMAN	myosin light chain kinase	19					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGAGGGATCCACACTGAGGG	0.532																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(55-57)GTG>GTA		myosin light chain kinase isoform 1							68.0	70.0	69.0					3																	123512632		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123512632C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.57G>A	3.37:g.123512632C>T						MYLK_uc011bjw.1_Silent_p.V19V|MYLK_uc003egp.2_Silent_p.V19V|MYLK_uc003egq.2_Silent_p.V19V|MYLK_uc003egr.2_Silent_p.V19V|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Silent_p.V19V|MYLK_uc003egu.1_Silent_p.V29V	p.V19V	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	4	339	-		Lung NSC(201;0.0496)	19					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.57G>A	CCDS46896.1																																																																																				0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		11	36	0	0	0	0	11	36				
GMPS	8833	broad.mit.edu	37	3	155633846	155633847	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633846_155633847AG>TA	ENST00000496455.2	+	9	1412_1413	c.1077_1078AG>TA	c.(1075-1080)ccAGag>ccTAag	p.E360K	GMPS_ENST00000295920.7_Missense_Mutation_p.E261K	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	360	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ACTTGAAACCAGAGGAGGTTTT	0.376			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				ovary(2)|lung(1)	3						c.(1075-1080)CCAGAG>CCTAAG		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)																																			SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155633846_155633847AG>TA	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	Exception_encountered	3.37:g.155633846_155633847delinsTA	ENSP00000419851:p.Glu360Lys					GMPS_uc011bom.1_Missense_Mutation_p.E261K	p.E360K	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		9	1412_1413	+			360					A8K639|B4DXV7|F8W720	Missense_Mutation	DNP	ENST00000496455.2	37	c.1077_1078AG>TA	CCDS46941.1																																																																																				0.376	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			9	33	0	0	0	0	9	33				
ABCC5	10057	broad.mit.edu	37	3	183655818	183655818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:183655818C>T	ENST00000334444.6	-	26	3965	c.3725G>A	c.(3724-3726)cGt>cAt	p.R1242H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1199H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1242	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTCCACCAGACGGAAGAGGGC	0.502																																						uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3724-3726)CGT>CAT		ATP-binding cassette, sub-family C, member 5							91.0	90.0	90.0					3																	183655818		2021	4195	6216	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655818C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3725G>A	3.37:g.183655818C>T	ENSP00000333926:p.Arg1242His					ABCC5_uc011bqt.1_Missense_Mutation_p.R770H|ABCC5_uc010hxl.2_Missense_Mutation_p.R1199H	p.R1242H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	3890	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1242			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3725G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441238	0.96187	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.92249	-3.0;-3.0	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.054165	0.85682	D	0.000000	D	0.97021	0.9027	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-12.7027	19.8948	0.96954	0.0:1.0:0.0:0.0	.	1199;1242	Q86UX3;O15440	.;MRP5_HUMAN	H	1242;1199	ENSP00000333926:R1242H;ENSP00000265586:R1199H	ENSP00000265586:R1199H	R	-	2	0	ABCC5	185138512	1.000000	0.71417	0.977000	0.42913	0.941000	0.58515	7.802000	0.85969	2.699000	0.92147	0.655000	0.94253	CGT		0.502	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	92	0	0	0	0	6	92				
PCYT1A	5130	broad.mit.edu	37	3	195966589	195966589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:195966589C>A	ENST00000292823.2	-	9	898	c.726G>T	c.(724-726)ttG>ttT	p.L242F	PCYT1A_ENST00000419333.1_Missense_Mutation_p.L242F|PCYT1A_ENST00000431016.1_Missense_Mutation_p.L242F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	242	Amphipathic. {ECO:0000255}.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CCCTCTCCTGCAAGTGGTATT	0.368																																						uc003fwg.2		NA																	0					0						c.(724-726)TTG>TTT		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						149.0	151.0	151.0					3																	195966589		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195966589C>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.726G>T	3.37:g.195966589C>A	ENSP00000292823:p.Leu242Phe					uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Missense_Mutation_p.L242F	p.L242F	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	9	899	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		242			Amphipathic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.726G>T	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.939048	0.18281	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591	.	.	.	5.93	2.76	0.32466	.	0.066003	0.64402	D	0.000008	T	0.37156	0.0993	N	0.19112	0.55	0.54753	D	0.999989	B	0.16396	0.017	B	0.15870	0.014	T	0.09818	-1.0657	9	0.23302	T	0.38	-59.3109	8.6821	0.34214	0.0:0.665:0.1161:0.2189	.	242	P49585	PCY1A_HUMAN	F	242;242;203;242;242	.	ENSP00000292823:L242F	L	-	3	2	PCYT1A	197450986	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.421000	0.21280	0.847000	0.35167	0.655000	0.94253	TTG		0.368	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		22	82	1	0	4.16e-05	4.52e-05	22	82				
STK32B	55351	broad.mit.edu	37	4	5448436	5448436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:5448436C>T	ENST00000282908.5	+	7	1021	c.599C>T	c.(598-600)cCc>cTc	p.P200L	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.P123L|STK32B_ENST00000510398.1_Missense_Mutation_p.P153L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GACAGAGGCCCCGGATACTCG	0.572																																						uc003gih.1		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(598-600)CCC>CTC		serine/threonine kinase 32B							89.0	82.0	84.0					4																	5448436		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5448436C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.599C>T	4.37:g.5448436C>T	ENSP00000282908:p.Pro200Leu					STK32B_uc010ida.1_Missense_Mutation_p.P153L	p.P200L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			7	663	+			200			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.599C>T	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682296	0.68042	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.65549	-0.16;-0.16;-0.16	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	U	0.000645	T	0.45518	0.1346	N	0.20483	0.58	0.80722	D	1	P	0.38395	0.629	B	0.32090	0.14	T	0.43988	-0.9357	10	0.27785	T	0.31	.	16.6579	0.85233	0.0:1.0:0.0:0.0	.	200	Q9NY57	ST32B_HUMAN	L	200;123;153	ENSP00000282908:P200L;ENSP00000423209:P123L;ENSP00000420984:P153L	ENSP00000282908:P200L	P	+	2	0	STK32B	5499337	0.999000	0.42202	0.994000	0.49952	0.717000	0.41224	5.759000	0.68785	2.523000	0.85059	0.561000	0.74099	CCC		0.572	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		24	27	0	0	0	0	24	27				
GBA3	57733	broad.mit.edu	37	4	22749519	22749519	+	RNA	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:22749519T>C	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGAAGAAAATGATCAAAGGC	0.403																																						uc003gqp.3		NA																	0					0						c.(886-888)ATG>ACG		cytosolic beta-glucosidase isoform a							54.0	53.0	54.0					4																	22749519		1843	4098	5941			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749519T>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749519T>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.M297T	p.M296T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	978	+			296					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.887T>C																																																																																					0.403	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			8	6	0	0	0	0	8	6				
ARAP2	116984	broad.mit.edu	37	4	36122929	36122929	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:36122929T>C	ENST00000303965.4	-	23	4255	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1256	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTGATTGATTTCTGAGCAT	0.343																																						uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3766-3768)ATC>GTC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							90.0	93.0	92.0					4																	36122929		2203	4299	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36122929T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3766A>G	4.37:g.36122929T>C	ENSP00000302895:p.Ile1256Val						p.I1256V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			23	4104	-			1256			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3766A>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218560	0.58560	.	.	ENSG00000047365	ENST00000303965	T	0.20738	2.05	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.063176	0.64402	D	0.000005	T	0.29556	0.0737	N	0.21142	0.635	0.41755	D	0.989685	D	0.60160	0.987	P	0.62089	0.898	T	0.03795	-1.1003	10	0.27785	T	0.31	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	1256	Q8WZ64	ARAP2_HUMAN	V	1256	ENSP00000302895:I1256V	ENSP00000302895:I1256V	I	-	1	0	ARAP2	35799324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.298000	0.59067	2.251000	0.74343	0.528000	0.53228	ATC		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		45	48	0	0	0	0	45	48				
LPHN3	23284	broad.mit.edu	37	4	62679537	62679537	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:62679537T>A	ENST00000514591.1	+	8	1535	c.1206T>A	c.(1204-1206)caT>caA	p.H402Q	LPHN3_ENST00000507625.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.H402Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H402Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	402					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ggcaggcacatcatggacaag	0.353																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1204-1206)CAT>CAA		latrophilin 3 precursor							122.0	114.0	117.0					4																	62679537		1932	4145	6077	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679537T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1206T>A	4.37:g.62679537T>A	ENSP00000422533:p.His402Gln					LPHN3_uc003hcq.3_Missense_Mutation_p.H402Q|LPHN3_uc003hcs.1_Missense_Mutation_p.H231Q	p.H402Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1379	+			402			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1206T>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613169	0.28712	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.4;-0.39;-0.43;-0.43;-0.4;-0.39;-0.43;-0.43;-0.42;-0.4;-0.4;-0.4;-0.42;-0.42;-0.4	3.67	3.67	0.42095	.	0.205006	0.41938	D	0.000787	T	0.58935	0.2157	N	0.19112	0.55	0.31413	N	0.675301	P;P	0.35821	0.462;0.523	P;B	0.49047	0.599;0.189	T	0.60722	-0.7207	10	0.25106	T	0.35	.	9.0114	0.36144	0.0:0.0:0.0:1.0	.	402;402	E9PE04;Q9HAR2-2	.;.	Q	402;402;470;470;402;402;402;402;402;470;470;470;402;402;402;470;470;402	ENSP00000423388:H402Q;ENSP00000422533:H402Q;ENSP00000423787:H470Q;ENSP00000425033:H470Q;ENSP00000424120:H402Q;ENSP00000439831:H402Q;ENSP00000421476:H470Q;ENSP00000424030:H470Q;ENSP00000421372:H470Q;ENSP00000425201:H402Q;ENSP00000423434:H402Q;ENSP00000421627:H402Q;ENSP00000420931:H470Q;ENSP00000425884:H470Q;ENSP00000424258:H402Q	ENSP00000280009:H402Q	H	+	3	2	LPHN3	62362132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.939000	0.28978	1.900000	0.55004	0.460000	0.39030	CAT		0.353	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			6	53	0	0	0	0	6	53				
PDHA2	5161	broad.mit.edu	37	4	96762054	96762054	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:96762054G>A	ENST00000295266.4	+	1	816	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	251					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTGGGCTAAAGGTCGATGGAA	0.463																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(751-753)AAG>AAA		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						134.0	137.0	136.0					4																	96762054		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762054G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.753G>A	4.37:g.96762054G>A							p.K251K	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	816	+		Hepatocellular(203;0.114)	251					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.753G>A	CCDS3644.1																																																																																				0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			13	63	0	0	0	0	13	63				
GUCY1A3	2982	broad.mit.edu	37	4	156643246	156643246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:156643246G>A	ENST00000296518.7	+	9	1982	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M333I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M591I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M591I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	591	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGTTAAAATGCCCCGTTACT	0.423																																						uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1771-1773)ATG>ATA		guanylate cyclase 1, soluble, alpha 3 isoform A							246.0	235.0	239.0					4																	156643246		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156643246G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1773G>A	4.37:g.156643246G>A	ENSP00000296518:p.Met591Ile					GUCY1A3_uc010iqc.2_Missense_Mutation_p.M591I|GUCY1A3_uc003iow.2_Missense_Mutation_p.M591I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.M590I|GUCY1A3_uc003iox.2_Missense_Mutation_p.M591I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.M356I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.M591I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.M356I|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.M591I	p.M591I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	10	2309	+	all_hematologic(180;0.24)	Renal(120;0.0854)	591			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1773G>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392533	0.83011	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.84585	2.705	0.80722	D	1	B;B	0.29571	0.249;0.249	B;B	0.34779	0.189;0.189	D	0.84996	0.0897	10	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	591;591	B3KU69;Q02108	.;GCYA3_HUMAN	I	591;591;591;591;333;591;591	ENSP00000424361:M591I;ENSP00000421493:M591I;ENSP00000426968:M591I;ENSP00000412201:M591I;ENSP00000377418:M333I;ENSP00000296518:M591I;ENSP00000426040:M591I	ENSP00000296518:M591I	M	+	3	0	GUCY1A3	156862696	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	ATG		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			115	129	0	0	0	0	115	129				
ADCY2	108	broad.mit.edu	37	5	7717334	7717334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:7717334G>A	ENST00000338316.4	+	12	1776	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	ADCY2_ENST00000537121.1_Missense_Mutation_p.G383R|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	563					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATTGATGGGATTAATGC	0.308																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1687-1689)GGG>AGG		adenylate cyclase 2							107.0	115.0	112.0					5																	7717334		2203	4297	6500	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717334G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1687G>A	5.37:g.7717334G>A	ENSP00000342952:p.Gly563Arg					ADCY2_uc011cmo.1_Missense_Mutation_p.G383R	p.G563R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			12	1754	+			563			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1687G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807399	0.90623	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77098	-1.07;-1.07	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.85177	0.5637	M	0.62723	1.935	0.80722	D	1	P;D	0.59357	0.924;0.985	P;P	0.56788	0.783;0.806	D	0.83547	0.0099	10	0.46703	T	0.11	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	383;563	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	563;396;383	ENSP00000342952:G563R;ENSP00000444803:G383R	ENSP00000342952:G563R	G	+	1	0	ADCY2	7770334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.195000	0.94971	2.894000	0.99253	0.655000	0.94253	GGG		0.308	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		22	62	0	0	0	0	22	62				
CTNND2	1501	broad.mit.edu	37	5	11023090	11023090	+	Splice_Site	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:11023090G>T	ENST00000304623.8	-	17	2979	c.2790C>A	c.(2788-2790)ggC>ggA	p.G930G	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.G497G|CTNND2_ENST00000359640.2_Splice_Site_p.G872G|CTNND2_ENST00000511377.1_Splice_Site_p.G839G|CTNND2_ENST00000503622.1_Splice_Site_p.G593G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGTATTTGCCTGGAAAAG	0.507																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2788-2790)GGC>GGA		catenin (cadherin-associated protein), delta 2							98.0	83.0	88.0					5																	11023090		2203	4300	6503	SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11023090G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2789-1C>A	5.37:g.11023090G>T						CTNND2_uc010itt.2_Silent_p.G839G|CTNND2_uc011cmy.1_Silent_p.G593G|CTNND2_uc011cmz.1_Silent_p.G497G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.G522G	p.G930G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	2935	-			930					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2790C>A	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Silent	12	35	1	0	0.00185496	0.0019391	12	35				
FAM105A	54491	broad.mit.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:14608915T>G	ENST00000274217.3	+	7	806	c.686T>G	c.(685-687)cTt>cGt	p.L229R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229	OTU.							p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328																																						uc003jfj.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(685-687)CTT>CGT		hypothetical protein LOC54491							77.0	77.0	77.0					5																	14608915		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14608915T>G		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.686T>G	5.37:g.14608915T>G	ENSP00000274217:p.Leu229Arg						p.L229R	NM_019018	NP_061891	Q9NUU6	F105A_HUMAN			7	799	+	Lung NSC(4;0.00592)		229					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.686T>G	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280354	0.59758	.	.	ENSG00000145569	ENST00000274217	T	0.18810	2.19	4.89	4.89	0.63831	.	0.109676	0.40064	N	0.001185	T	0.45696	0.1355	M	0.72894	2.215	0.39460	D	0.967556	D	0.89917	1.0	D	0.76575	0.988	T	0.52139	-0.8615	10	0.87932	D	0	-8.3487	14.4858	0.67616	0.0:0.0:0.0:1.0	.	229	Q9NUU6	F105A_HUMAN	R	229	ENSP00000274217:L229R	ENSP00000274217:L229R	L	+	2	0	FAM105A	14661915	0.991000	0.36638	0.996000	0.52242	0.879000	0.50718	4.189000	0.58358	1.819000	0.53055	0.477000	0.44152	CTT		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		16	38	0	0	0	0	16	38				
CDH6	1004	broad.mit.edu	37	5	31316322	31316322	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:31316322A>G	ENST00000265071.2	+	9	1663	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	CDH6_ENST00000514738.1_Silent_p.P411P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATAATCCAAAGCAAAGTA	0.368																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1396-1398)CCA>CCG		cadherin 6, type 2 preproprotein							55.0	56.0	56.0					5																	31316322		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31316322A>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1398A>G	5.37:g.31316322A>G						CDH6_uc003jhd.1_Silent_p.P466P	p.P466P	NM_004932	NP_004923	P55285	CADH6_HUMAN			9	1724	+			466			Extracellular (Potential).|Cadherin 4.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1398A>G	CCDS3894.1																																																																																				0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		12	44	0	0	0	0	12	44				
SLC45A2	51151	broad.mit.edu	37	5	33982466	33982466	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:33982466A>C	ENST00000296589.4	-	2	583	c.437T>G	c.(436-438)aTg>aGg	p.M146R	SLC45A2_ENST00000509381.1_Missense_Mutation_p.M146R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M146R|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.M146R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	146					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GACACCTATCATGGTGACACT	0.433																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(436-438)ATG>AGG		membrane-associated transporter protein isoform							103.0	97.0	99.0					5																	33982466		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33982466A>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.437T>G	5.37:g.33982466A>C	ENSP00000296589:p.Met146Arg					SLC45A2_uc003jie.2_Missense_Mutation_p.M146R|SLC45A2_uc003jif.3_Missense_Mutation_p.M146R|SLC45A2_uc011coe.1_Missense_Mutation_p.M146R	p.M146R	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			2	529	-			146			Helical; Name=4; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.437T>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326626	0.81690	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.33	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);	0.104182	0.85682	D	0.000000	D	0.95999	0.8697	M	0.83118	2.625	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.994	D;D;D	0.71184	0.972;0.964;0.953	D	0.96469	0.9347	10	0.66056	D	0.02	-12.0681	15.593	0.76554	1.0:0.0:0.0:0.0	.	146;146;146	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	R	146	ENSP00000296589:M146R;ENSP00000371534:M146R;ENSP00000421100:M146R;ENSP00000340444:M146R	ENSP00000296589:M146R	M	-	2	0	SLC45A2	34018223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.179000	0.94861	2.156000	0.67533	0.523000	0.50628	ATG		0.433	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		19	50	0	0	0	0	19	50				
LIFR	3977	broad.mit.edu	37	5	38489306	38489306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:38489306C>T	ENST00000263409.4	-	16	2371	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	LIFR_ENST00000453190.2_Missense_Mutation_p.A737T|LIFR_ENST00000503088.1_5'Flank	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	737	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGAATCTGCAGAAGTATCC	0.358			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(2209-2211)GCA>ACA		leukemia inhibitory factor receptor precursor							64.0	63.0	63.0					5																	38489306		2203	4299	6502	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38489306C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2209G>A	5.37:g.38489306C>T	ENSP00000263409:p.Ala737Thr					LIFR_uc003jli.2_Missense_Mutation_p.A737T	p.A737T	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			16	2541	-	all_lung(31;0.00021)		737			Fibronectin type-III 6.|Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2209G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386465	0.61956	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54675	0.56;0.56	5.78	4.9	0.64082	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.277677	0.40640	N	0.001052	T	0.50309	0.1608	M	0.73217	2.22	0.35890	D	0.829639	P	0.42456	0.78	B	0.38106	0.265	T	0.60811	-0.7189	10	0.26408	T	0.33	-24.7944	13.0441	0.58916	0.4407:0.5593:0.0:0.0	.	737	P42702	LIFR_HUMAN	T	737	ENSP00000263409:A737T;ENSP00000398368:A737T	ENSP00000263409:A737T	A	-	1	0	LIFR	38525063	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.180000	0.42537	1.407000	0.46875	0.650000	0.86243	GCA		0.358	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		9	48	0	0	0	0	9	48				
HTR1A	3350	broad.mit.edu	37	5	63256467	63256467	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:63256467G>A	ENST00000323865.3	-	1	1313	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	360	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGATGAAGAAGGGCAGCCAGC	0.597																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(1078-1080)CCC>CCT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						132.0	135.0	134.0					5																	63256467		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256467G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1080C>T	5.37:g.63256467G>A							p.P360P	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1080	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	360			Helical; Name=6; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1080C>T	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		35	132	0	0	0	0	35	132				
VCAN	1462	broad.mit.edu	37	5	82817564	82817564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:82817564A>G	ENST00000265077.3	+	7	4004	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	VCAN_ENST00000342785.4_Missense_Mutation_p.T1147A|VCAN_ENST00000512590.2_Missense_Mutation_p.T1099A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1147	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGGTAGTAGTACAACAGGATT	0.388																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3439-3441)ACA>GCA		versican isoform 1 precursor							95.0	91.0	92.0					5																	82817564		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817564A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3439A>G	5.37:g.82817564A>G	ENSP00000265077:p.Thr1147Ala					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1147A|VCAN_uc003kik.3_Intron	p.T1147A	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3795	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1147			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3439A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	1.072	-0.669629	0.03403	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85411	-1.84;-1.95;-1.98	5.43	-5.37	0.02681	.	0.701012	0.13518	N	0.381953	T	0.65678	0.2714	N	0.22421	0.69	0.09310	N	1	B;B	0.18863	0.017;0.031	B;B	0.16289	0.015;0.01	T	0.52823	-0.8524	10	0.54805	T	0.06	.	0.2041	0.00148	0.3551:0.1619:0.2197:0.2633	.	1147;1147	P13611-3;P13611	.;CSPG2_HUMAN	A	1147;1147;1099	ENSP00000265077:T1147A;ENSP00000342768:T1147A;ENSP00000425959:T1099A	ENSP00000265077:T1147A	T	+	1	0	VCAN	82853320	0.000000	0.05858	0.155000	0.22561	0.014000	0.08584	-0.264000	0.08658	-0.587000	0.05890	-0.452000	0.05504	ACA		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		38	55	0	0	0	0	38	55				
TTC37	9652	broad.mit.edu	37	5	94852669	94852669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:94852669G>A	ENST00000358746.2	-	22	2685	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	796						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTGCTGCCTGTTTCTGCTAG	0.333																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2386-2388)ACA>ATA		tetratricopeptide repeat domain 37							71.0	63.0	65.0					5																	94852669		2203	4299	6502	SO:0001583	missense	9652						binding	g.chr5:94852669G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2387C>T	5.37:g.94852669G>A	ENSP00000351596:p.Thr796Ile						p.T796I	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			22	2657	-			796			TPR 13.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2387C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	7.116	0.577068	0.13686	.	.	ENSG00000198677	ENST00000358746	T	0.77877	-1.13	5.34	0.487	0.16842	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.324591	0.32161	N	0.006492	T	0.54515	0.1863	N	0.22421	0.69	0.09310	N	1	P	0.35077	0.483	B	0.26517	0.07	T	0.43637	-0.9379	10	0.34782	T	0.22	.	5.597	0.17333	0.4368:0.0:0.4352:0.128	.	796	Q6PGP7	TTC37_HUMAN	I	796	ENSP00000351596:T796I	ENSP00000351596:T796I	T	-	2	0	TTC37	94878425	0.995000	0.38212	0.934000	0.37439	0.955000	0.61496	1.594000	0.36697	0.073000	0.16731	-0.384000	0.06662	ACA		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		7	21	0	0	0	0	7	21				
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A	rs376062034		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGCCCAGACGAAGATGGACC	0.498																																						uc003kls.1		NA																	0				ovary(2)	2						c.(907-909)TTC>TTT		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						142.0	136.0	138.0					5																	95746664		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746664G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.909C>T	5.37:g.95746664G>A						PCSK1_uc010jbi.1_Intron	p.F303F	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1115	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	303			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.909C>T	CCDS4081.1																																																																																				0.498	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		14	145	0	0	0	0	14	145				
FBN2	2201	broad.mit.edu	37	5	127638678	127638678	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:127638678A>C	ENST00000508053.1	-	52	6878	c.5904T>G	c.(5902-5904)aaT>aaG	p.N1968K	FBN2_ENST00000262464.4_Missense_Mutation_p.N1968K			P35556	FBN2_HUMAN	fibrillin 2	1968	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCAATCATTATTATGAGTGA	0.373																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5902-5904)AAT>AAG		fibrillin 2 precursor							141.0	147.0	145.0					5																	127638678		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638678A>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5904T>G	5.37:g.127638678A>C	ENSP00000424571:p.Asn1968Lys						p.N1968K	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6343	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1968			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5904T>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473563	0.63737	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91894	-2.93;-2.93	5.3	0.388	0.16264	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090855	0.47455	D	0.000237	D	0.91294	0.7255	L	0.34521	1.04	0.40021	D	0.975411	D	0.64830	0.994	D	0.64506	0.926	D	0.88751	0.3250	10	0.59425	D	0.04	.	9.4951	0.38984	0.6342:0.0:0.3658:0.0	.	1968	P35556	FBN2_HUMAN	K	1968	ENSP00000262464:N1968K;ENSP00000424571:N1968K	ENSP00000262464:N1968K	N	-	3	2	FBN2	127666577	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	1.092000	0.30927	-0.064000	0.13043	-0.274000	0.10170	AAT		0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		41	91	0	0	0	0	41	91				
PCDHA13	56136	broad.mit.edu	37	5	140261865	140261865	+	Silent	SNP	C	C	T	rs531486554	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140261865C>T	ENST00000289272.2	+	1	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.S4S|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	4					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)			TGCTGTCTTCCTGGCAAGGAG	0.542													.|||	3	0.000599042	0.0	0.0	5008	,	,		18650	0.0		0.0	False		,,,				2504	0.0031				Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10-12)TCC>TCT		protocadherin alpha 13 isoform 1 precursor							149.0	155.0	153.0					5																	140261865		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140261865C>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.12C>T	5.37:g.140261865C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S4S|PCDHA13_uc003lid.2_Silent_p.S4S	p.S4S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	12	+			4					O75277	Silent	SNP	ENST00000289272.2	37	c.12C>T	CCDS4240.1																																																																																				0.542	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		49	151	0	0	0	0	49	151				
PCDHA13	56136	broad.mit.edu	37	5	140262129	140262129	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	92	Cadherin 1. {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)			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)			GGATCGACCGCGAGGAGCTGT	0.587																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(274-276)CGC>CGT		protocadherin alpha 13 isoform 1 precursor							121.0	133.0	129.0					5																	140262129		2203	4297	6500	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262129C>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.276C>T	5.37:g.140262129C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.R92R|PCDHA13_uc003lid.2_Silent_p.R92R	p.R92R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	276	+			92			Cadherin 1.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.276C>T	CCDS4240.1																																																																																				0.587	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		17	284	0	0	0	0	17	284				
PCDHB3	56132	broad.mit.edu	37	5	140480873	140480873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140480873G>A	ENST00000231130.2	+	1	640	c.640G>A	c.(640-642)Gcg>Acg	p.A214T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGCTCACCGCGCTGGACGG	0.562																																						uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(640-642)GCG>ACG		protocadherin beta 3 precursor							50.0	50.0	50.0					5																	140480873		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480873G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.640G>A	5.37:g.140480873G>A	ENSP00000231130:p.Ala214Thr					uc003lin.2_Intron	p.A214T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	640	+			214			Extracellular (Potential).|Cadherin 2.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.640G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648462	0.67358	.	.	ENSG00000113205	ENST00000231130	T	0.36878	1.23	5.08	5.08	0.68730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77046	0.4073	H	0.99042	4.41	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.87197	0.2238	9	0.87932	D	0	.	18.4806	0.90809	0.0:0.0:1.0:0.0	.	214	Q9Y5E6	PCDB3_HUMAN	T	214	ENSP00000231130:A214T	ENSP00000231130:A214T	A	+	1	0	PCDHB3	140461057	1.000000	0.71417	0.933000	0.37362	0.026000	0.11368	9.788000	0.99064	2.515000	0.84797	0.655000	0.94253	GCG		0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		18	51	0	0	0	0	18	51				
PCDHB14	56122	broad.mit.edu	37	5	140605137	140605137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140605137C>T	ENST00000239449.4	+	1	2060	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T534I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	687					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCCCTCACCGTCTACCTG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(2059-2061)ACC>ATC		protocadherin beta 14 precursor							78.0	86.0	83.0					5																	140605137		2195	4286	6481	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605137C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2060C>T	5.37:g.140605137C>T	ENSP00000239449:p.Thr687Ile					PCDHB14_uc011dal.1_Missense_Mutation_p.T534I	p.T687I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2060	+			687			Helical; (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2060C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	22.6	4.317264	0.81469	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.57107	0.42;0.43	4.17	4.17	0.49024	.	.	.	.	.	D	0.82976	0.5154	H	0.98487	4.245	0.46028	D	0.998826	D	0.89917	1.0	D	0.76575	0.988	D	0.90593	0.4538	9	0.87932	D	0	.	16.5189	0.84308	0.0:1.0:0.0:0.0	.	687	Q9Y5E9	PCDBE_HUMAN	I	534;687	ENSP00000444518:T534I;ENSP00000239449:T687I	ENSP00000239449:T687I	T	+	2	0	PCDHB14	140585321	0.979000	0.34478	0.404000	0.26397	0.027000	0.11550	3.097000	0.50251	2.022000	0.59522	0.650000	0.86243	ACC		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		75	115	0	0	0	0	75	115				
CDX1	1044	broad.mit.edu	37	5	149562461	149562461	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:149562461G>A	ENST00000231656.8	+	2	658	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	192					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATCTGGGGCTCACTGAAC	0.562																																						uc003lrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(574-576)GGG>GGA		caudal type homeobox 1							114.0	122.0	120.0					5																	149562461		2203	4300	6503	SO:0001819	synonymous_variant	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562461G>A	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.576G>A	5.37:g.149562461G>A							p.G192G	NM_001804	NP_001795	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	672	+		all_hematologic(541;0.224)	192			Homeobox.		Q4VAU4|Q9NYK8	Silent	SNP	ENST00000231656.8	37	c.576G>A	CCDS4304.1																																																																																				0.562	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		40	81	0	0	0	0	40	81				
GRIA1	2890	broad.mit.edu	37	5	153175081	153175081	+	Intron	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:153175081C>G	ENST00000285900.5	+	14	2728				GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Silent_p.V782V|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000340592.5_Silent_p.V772V|GRIA1_ENST00000518783.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCAAGGCGTCTTAGACAAGC	0.448																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(2314-2316)GTC>GTG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						195.0	165.0	174.0					5																	153175081		692	1591	2283	SO:0001627	intron_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153175081C>G		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2385+786C>G	5.37:g.153175081C>G						GRIA1_uc003luy.3_Intron|GRIA1_uc003luz.3_Silent_p.V677V|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Intron|GRIA1_uc011dcy.1_Silent_p.V782V|GRIA1_uc011dcz.1_Intron	p.V772V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2681	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	772			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2316C>G	CCDS4322.1																																																																																				0.448	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			15	29	0	0	0	0	15	29				
CYFIP2	26999	broad.mit.edu	37	5	156721850	156721850	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156721850G>C	ENST00000347377.6	+	4	697	c.266G>C	c.(265-267)tGt>tCt	p.C89S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C89S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C89S|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron	NM_001037332.2	NP_001032409.2			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGCAGCTGTTCCCGGGCC	0.537																																						uc003lwq.2		NA																	0					0						c.(265-267)TGT>TCT		cytoplasmic FMR1 interacting protein 2							117.0	126.0	123.0					5																	156721850		2152	4282	6434	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156721850G>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000347377.6:c.266G>C	5.37:g.156721850G>C	ENSP00000313567:p.Cys89Ser					CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.C89S|CYFIP2_uc003lws.2_Missense_Mutation_p.C89S|CYFIP2_uc003lwt.2_5'Flank|CYFIP2_uc011ddp.1_5'Flank|CYFIP2_uc003lwp.2_5'UTR	p.C89S	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	404	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	89						Missense_Mutation	SNP	ENST00000347377.6	37	c.266G>C		.	.	.	.	.	.	.	.	.	.	G	21.0	4.081302	0.76528	.	.	ENSG00000055163	ENST00000318218;ENST00000347377;ENST00000377576	T;T;T	0.41400	1.0;1.0;1.0	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.87269	2.87	0.80722	D	1	D;D;B	0.89917	0.996;1.0;0.047	P;D;B	0.77004	0.794;0.989;0.006	T	0.77225	-0.2666	10	0.87932	D	0	-16.8038	18.1684	0.89736	0.0:0.0:1.0:0.0	.	89;89;89	E7EVF4;Q96F07-2;Q96F07	.;.;CYFP2_HUMAN	S	89	ENSP00000325817:C89S;ENSP00000313567:C89S;ENSP00000366799:C89S	ENSP00000325817:C89S	C	+	2	0	CYFIP2	156654428	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.767000	0.85331	2.285000	0.76669	0.563000	0.77884	TGT		0.537	CYFIP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037332		11	18	0	0	0	0	11	18				
CYFIP2	26999	broad.mit.edu	37	5	156738742	156738742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156738742G>T	ENST00000521420.1	+	10	1076	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	CYFIP2_ENST00000541131.1_Missense_Mutation_p.D280Y|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D29Y|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.D355Y|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D355Y|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D355Y|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D159Y					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCGGGATGACCACATCCG	0.612																																						uc003lwq.2		NA																	0					0						c.(1063-1065)GAC>TAC		cytoplasmic FMR1 interacting protein 2							37.0	39.0	38.0					5																	156738742		2190	4290	6480	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156738742G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.985G>T	5.37:g.156738742G>T	ENSP00000430904:p.Asp329Tyr					CYFIP2_uc011ddn.1_Missense_Mutation_p.D329Y|CYFIP2_uc011ddo.1_Missense_Mutation_p.D159Y|CYFIP2_uc003lwr.2_Missense_Mutation_p.D355Y|CYFIP2_uc003lws.2_Missense_Mutation_p.D355Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.D233Y|CYFIP2_uc011ddp.1_Missense_Mutation_p.D89Y	p.D355Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		13	1201	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	355						Missense_Mutation	SNP	ENST00000521420.1	37	c.1063G>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.748942	0.89753	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.25414	2.14;2.13;2.11;2.11;2.11;2.11;1.8	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.42245	1.32	0.80722	D	1	D;P;D;P;P;D	0.61697	0.987;0.949;0.984;0.845;0.708;0.99	D;P;P;B;B;D	0.70487	0.934;0.707;0.73;0.34;0.346;0.969	T	0.36529	-0.9744	10	0.72032	D	0.01	-37.7749	19.3471	0.94367	0.0:0.0:1.0:0.0	.	219;159;329;355;355;355	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	Y	355;159;329;355;355;280;29	ENSP00000325817:D355Y;ENSP00000428009:D159Y;ENSP00000430904:D329Y;ENSP00000313567:D355Y;ENSP00000366799:D355Y;ENSP00000444645:D280Y;ENSP00000403793:D29Y	ENSP00000325817:D355Y	D	+	1	0	CYFIP2	156671320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.814000	0.99346	2.566000	0.86566	0.655000	0.94253	GAC		0.612	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		5	10	1	0	5.94e-07	6.72e-07	5	10				
SLIT3	6586	broad.mit.edu	37	5	168123340	168123340	+	Silent	SNP	G	G	A	rs79266600		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:168123340G>A	ENST00000519560.1	-	28	3458	c.3039C>T	c.(3037-3039)gaC>gaT	p.D1013D	SLIT3_ENST00000332966.8_Silent_p.D1020D|SLIT3_ENST00000404867.3_Silent_p.D1013D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1013	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGATCCCGTCCACGCAGG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20550	0.001		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(3037-3039)GAC>GAT		slit homolog 3 precursor		G		0,4406		0,0,2203	293.0	241.0	258.0		3039	-9.5	0.4	5	dbSNP_132	258	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLIT3	NM_003062.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1013/1524	168123340	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168123340G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3039C>T	5.37:g.168123340G>A						SLIT3_uc010jjg.2_Silent_p.D1020D	p.D1013D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		28	3459	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1013			EGF-like 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3039C>T	CCDS4369.1																																																																																				0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		24	78	0	0	0	0	24	78				
DOCK2	1794	broad.mit.edu	37	5	169461497	169461497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:169461497T>A	ENST00000256935.8	+	35	3642	c.3562T>A	c.(3562-3564)Tac>Aac	p.Y1188N	DOCK2_ENST00000540750.1_Missense_Mutation_p.Y249N|DOCK2_ENST00000520908.1_Missense_Mutation_p.Y680N|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1188	Interaction with CRKL.				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)			GCTGCTGGATTACCGGGGTGT	0.587																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3562-3564)TAC>AAC		dedicator of cytokinesis 2							106.0	102.0	103.0					5																	169461497		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.chr5:169461497T>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.3562T>A	5.37:g.169461497T>A	ENSP00000256935:p.Tyr1188Asn					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y680N	p.Y1188N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	3642	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1188			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3562T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	34	5.329361	0.95733	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.54675	0.56;0.56;0.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.92367	3.3	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;P	0.73708	0.981;0.899	D	0.84248	0.0476	10	0.72032	D	0.01	.	15.5104	0.75776	0.0:0.0:0.0:1.0	.	680;1188	E7ERW7;Q92608	.;DOCK2_HUMAN	N	1188;680;249	ENSP00000256935:Y1188N;ENSP00000429283:Y680N;ENSP00000438827:Y249N	ENSP00000256935:Y1188N	Y	+	1	0	DOCK2	169394075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.758000	0.85224	2.145000	0.66743	0.533000	0.62120	TAC		0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		7	59	0	0	0	0	7	59				
FAF2	23197	broad.mit.edu	37	5	175913486	175913486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:175913486C>T	ENST00000261942.6	+	3	316	c.263C>T	c.(262-264)cCa>cTa	p.P88L	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	88					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGACCTCAACCAAGGGCAAGT	0.433																																						uc003mej.3		NA																	0				ovary(1)	1						c.(262-264)CCA>CTA		UBX domain containing 8							122.0	104.0	110.0					5																	175913486		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913486C>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.263C>T	5.37:g.175913486C>T	ENSP00000261942:p.Pro88Leu						p.P88L	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			3	316	+			88					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.263C>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401428	0.96030	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.75777	2.31	0.80722	D	1	P	0.48834	0.916	P	0.45660	0.489	T	0.70004	-0.4991	8	.	.	.	-14.2762	20.6244	0.99512	0.0:1.0:0.0:0.0	.	88	Q96CS3	FAF2_HUMAN	L	88	.	.	P	+	2	0	FAF2	175846092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	2.879000	0.98667	0.650000	0.86243	CCA		0.433	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		16	62	0	0	0	0	16	62				
SCGN	10590	broad.mit.edu	37	6	25689756	25689756	+	Missense_Mutation	SNP	A	A	T	rs143515197		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:25689756A>T	ENST00000377961.2	+	9	797	c.629A>T	c.(628-630)gAt>gTt	p.D210V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	210	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTACTATGATGTTGTAAGT	0.398																																						uc003nfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(628-630)GAT>GTT		secretagogin precursor		A	VAL/ASP	0,4406		0,0,2203	275.0	263.0	267.0		629	4.6	1.0	6	dbSNP_134	267	1,8599	2.2+/-6.3	0,1,4299	no	missense	SCGN	NM_006998.3	152	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	210/277	25689756	1,13005	2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25689756A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.629A>T	6.37:g.25689756A>T	ENSP00000367197:p.Asp210Val					SCGN_uc010jpz.2_Missense_Mutation_p.D101V	p.D210V	NM_006998	NP_008929	O76038	SEGN_HUMAN			9	832	+			210			EF-hand 5.|5 (Potential).		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.629A>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957564	0.73902	0.0	1.16E-4	ENSG00000079689	ENST00000377961	T	0.29655	1.56	4.6	4.6	0.57074	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54721	-0.8251	10	0.87932	D	0	.	13.3831	0.60780	1.0:0.0:0.0:0.0	.	210	O76038	SEGN_HUMAN	V	210	ENSP00000367197:D210V	ENSP00000367197:D210V	D	+	2	0	SCGN	25797735	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.220000	0.78008	2.053000	0.61076	0.460000	0.39030	GAT		0.398	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			38	88	0	0	0	0	38	88				
PI16	221476	broad.mit.edu	37	6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:36930839C>T	ENST00000373674.3	+	5	1049	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	241					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.P241S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGGGATTCCGGCTTTCTT	0.562																																						uc003ona.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(721-723)CCG>TCG		protease inhibitor 16 precursor							107.0	100.0	102.0					6																	36930839		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930839C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.721C>T	6.37:g.36930839C>T	ENSP00000362778:p.Pro241Ser					PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P12S	p.P241S	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	1049	+			241			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.721C>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841820	0.16963	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.06849	3.25	4.47	2.59	0.31030	.	0.789570	0.11132	N	0.596145	T	0.02688	0.0081	L	0.44542	1.39	0.20563	N	0.999887	P	0.44241	0.829	B	0.41571	0.36	T	0.41627	-0.9498	10	0.16896	T	0.51	.	9.1637	0.37038	0.1655:0.6745:0.1599:0.0	.	241	Q6UXB8	PI16_HUMAN	S	241;93	ENSP00000362778:P241S	ENSP00000362778:P241S	P	+	1	0	PI16	37038817	0.000000	0.05858	0.005000	0.12908	0.629000	0.37895	0.299000	0.19138	0.754000	0.32968	0.591000	0.81541	CCG		0.562	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		42	90	0	0	0	0	42	90				
PGK2	5232	broad.mit.edu	37	6	49753700	49753700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:49753700C>A	ENST00000304801.3	-	1	1353	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	401					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCAGAAGCTCTAGACTGGCA	0.473																																						uc003ozu.2		NA																	0				ovary(1)	1						c.(1201-1203)GAG>TAG		phosphoglycerate kinase 2							91.0	89.0	90.0					6																	49753700		2203	4300	6503	SO:0001587	stop_gained	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753700C>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1201G>T	6.37:g.49753700C>A	ENSP00000305995:p.Glu401*						p.E401*	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1308	-	Lung NSC(77;0.0402)		401					B2R6Y8|Q9H107	Nonsense_Mutation	SNP	ENST00000304801.3	37	c.1201G>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.369062	0.97511	.	.	ENSG00000170950	ENST00000304801	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.6213	14.804	0.69938	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000305995:E401X	E	-	1	0	PGK2	49861659	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.373000	0.66162	2.619000	0.88677	0.585000	0.79938	GAG		0.473	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			33	86	1	0	1.07e-11	1.28e-11	33	86				
LRRC1	55227	broad.mit.edu	37	6	53787549	53787549	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:53787549C>T	ENST00000370888.1	+	14	1810	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	511						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAAACAAAAACGAGGTCAATC	0.473																																						uc003pcd.1		NA																	0				ovary(1)	1						c.(1531-1533)AAC>AAT		leucine rich repeat containing 1							242.0	247.0	245.0					6																	53787549		1977	4160	6137	SO:0001819	synonymous_variant	55227					cytoplasm|membrane		g.chr6:53787549C>T	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1533C>T	6.37:g.53787549C>T							p.N511N	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	14	1810	+	Lung NSC(77;0.0147)		511			Potential.		Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	ENST00000370888.1	37	c.1533C>T	CCDS4953.2																																																																																				0.473	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		41	233	0	0	0	0	41	233				
DOPEY1	23033	broad.mit.edu	37	6	83820000	83820000	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:83820000A>T	ENST00000349129.2	+	6	908	c.648A>T	c.(646-648)caA>caT	p.Q216H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q216H|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q216H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q216H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	216					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGGAAGATCAACTTTATATAA	0.403																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(646-648)CAA>CAT		dopey family member 1							149.0	143.0	145.0					6																	83820000		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83820000A>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.648A>T	6.37:g.83820000A>T	ENSP00000195654:p.Gln216His					DOPEY1_uc011dyy.1_Missense_Mutation_p.Q216H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q216H	p.Q216H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	6	908	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	216					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.648A>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208777	0.79240	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.28454	1.63;1.63;1.61	5.73	-7.54	0.01332	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.90252	3.1	0.58432	D	0.999991	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.997	T	0.73636	-0.3920	10	0.62326	D	0.03	.	19.8589	0.96776	0.2802:0.0:0.7198:0.0	.	216;216;216	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	216	ENSP00000195654:Q216H;ENSP00000237163:Q216H;ENSP00000358754:Q216H	ENSP00000237163:Q216H	Q	+	3	2	DOPEY1	83876719	0.992000	0.36948	0.742000	0.31022	0.915000	0.54546	0.296000	0.19083	-1.441000	0.01958	-0.256000	0.11100	CAA		0.403	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		80	152	0	0	0	0	80	152				
GJA10	84694	broad.mit.edu	37	6	90604421	90604421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:90604421G>A	ENST00000369352.1	+	1	234	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	78					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453																																						uc011eaa.1		NA																	0					0						c.(232-234)TGG>TGA		gap junction protein, alpha 10							150.0	119.0	130.0					6																	90604421		2203	4300	6503	SO:0001587	stop_gained	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604421G>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.234G>A	6.37:g.90604421G>A	ENSP00000358358:p.Trp78*						p.W78*	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	234	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	78			Helical; (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	SNP	ENST00000369352.1	37	c.234G>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342239	0.81911	.	.	ENSG00000135355	ENST00000369352	.	.	.	4.8	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0887	0.59156	0.0774:0.0:0.9226:0.0	.	.	.	.	X	78	.	ENSP00000358358:W78X	W	+	3	0	GJA10	90661142	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.621000	0.83083	1.265000	0.44215	0.563000	0.77884	TGG		0.453	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		15	54	0	0	0	0	15	54				
KIAA1919	91749	broad.mit.edu	37	6	111587184	111587184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111587184C>A	ENST00000368847.4	+	4	772	c.419C>A	c.(418-420)gCt>gAt	p.A140D		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	140					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACTGCTAGCTAAACTGGCT	0.507																																						uc003puv.3		NA																	0				ovary(3)	3						c.(418-420)GCT>GAT		sodium-dependent glucose transporter 1							88.0	88.0	88.0					6																	111587184		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587184C>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.419C>A	6.37:g.111587184C>A	ENSP00000357840:p.Ala140Asp						p.A140D	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	841	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	140			Helical; (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.419C>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682956	0.68157	.	.	ENSG00000173214	ENST00000368847	T	0.61627	0.09	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78863	-0.2036	10	0.87932	D	0	-13.3122	20.168	0.98156	0.0:1.0:0.0:0.0	.	140	Q5TF39	NAGT1_HUMAN	D	140	ENSP00000357840:A140D	ENSP00000357840:A140D	A	+	2	0	KIAA1919	111693877	1.000000	0.71417	0.925000	0.36789	0.095000	0.18619	7.043000	0.76572	2.774000	0.95407	0.643000	0.83706	GCT		0.507	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		5	47	1	0	1.24e-05	1.35e-05	5	47				
REV3L	5980	broad.mit.edu	37	6	111695451	111695451	+	Silent	SNP	T	T	C	rs537030557		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111695451T>C	ENST00000358835.3	-	14	4561	c.4107A>G	c.(4105-4107)gcA>gcG	p.A1369A	REV3L_ENST00000435970.1_Silent_p.A1291A|REV3L_ENST00000368805.1_Silent_p.A1369A|REV3L_ENST00000368802.3_Silent_p.A1369A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1369					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGTATTCTGTGCTACCTGAG	0.303								DNA polymerases (catalytic subunits)					T|||	1	0.000199681	0.0	0.0	5008	,	,		20671	0.001		0.0	False		,,,				2504	0.0					uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(4105-4107)GCA>GCG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							63.0	67.0	66.0					6																	111695451		2203	4299	6502	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695451T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4107A>G	6.37:g.111695451T>C						REV3L_uc003pux.3_Silent_p.A1291A|REV3L_uc003puz.3_Silent_p.A1291A	p.A1369A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	4430	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1369					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.4107A>G	CCDS5091.2																																																																																				0.303	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		38	68	0	0	0	0	38	68				
NMBR	4829	broad.mit.edu	37	6	142399733	142399733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:142399733G>T	ENST00000258042.1	-	2	870	c.730C>A	c.(730-732)Cac>Aac	p.H244N	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	244					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGATTGTGTGCGCTTTTA	0.358																																						uc003qiu.2		NA																	0				central_nervous_system(3)|breast(1)	4						c.(730-732)CAC>AAC		neuromedin B receptor							104.0	103.0	104.0					6																	142399733		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399733G>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.730C>A	6.37:g.142399733G>T	ENSP00000258042:p.His244Asn						p.H244N	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	871	-	Breast(32;0.155)		244			Cytoplasmic (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.730C>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648044	0.29336	.	.	ENSG00000135577	ENST00000258042	T	0.36520	1.25	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.045996	0.85682	D	0.000000	T	0.16342	0.0393	N	0.20530	0.585	0.54753	D	0.999982	B	0.18013	0.025	B	0.26094	0.066	T	0.04551	-1.0943	10	0.28530	T	0.3	-7.7714	18.841	0.92184	0.0:0.0:1.0:0.0	.	244	P28336	NMBR_HUMAN	N	244	ENSP00000258042:H244N	ENSP00000258042:H244N	H	-	1	0	NMBR	142441426	1.000000	0.71417	0.999000	0.59377	0.621000	0.37620	4.465000	0.60141	2.458000	0.83093	0.585000	0.79938	CAC		0.358	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			17	39	1	0	3.53e-06	3.91e-06	17	39				
UTRN	7402	broad.mit.edu	37	6	144844227	144844227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:144844227G>T	ENST00000367545.3	+	40	5809	c.5809G>T	c.(5809-5811)Gaa>Taa	p.E1937*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1937					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCATCCTTGAAGCCTCTGG	0.383																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(5809-5811)GAA>TAA		utrophin							94.0	88.0	90.0					6																	144844227		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144844227G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5809G>T	6.37:g.144844227G>T	ENSP00000356515:p.Glu1937*						p.E1937*	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	40	5901	+		Ovarian(120;0.218)	1937			Spectrin 13.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.5809G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	47	13.337938	0.99735	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.65	4.75	0.60458	.	0.110893	0.40064	N	0.001191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	13.7523	0.62915	0.0769:0.0:0.9231:0.0	.	.	.	.	X	1937	.	ENSP00000356515:E1937X	E	+	1	0	UTRN	144885920	1.000000	0.71417	0.948000	0.38648	0.991000	0.79684	7.658000	0.83755	1.320000	0.45209	0.591000	0.81541	GAA		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			19	56	1	0	2.58e-16	3.17e-16	19	56				
SYNE1	23345	broad.mit.edu	37	6	152786398	152786398	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:152786398T>A	ENST00000367255.5	-	18	2528	c.1927A>T	c.(1927-1929)Aaa>Taa	p.K643*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.K633*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.K210*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K650*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	643					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTTTGGCATTTTCT	0.403										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(1927-1929)AAA>TAA		spectrin repeat containing, nuclear envelope 1							146.0	131.0	136.0					6																	152786398		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786398T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1927A>T	6.37:g.152786398T>A	ENSP00000356224:p.Lys643*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.K650*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K643*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K626*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.K643*|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Nonsense_Mutation_p.K159*|SYNE1_uc003qoz.2_Nonsense_Mutation_p.K75*|SYNE1_uc003qoy.2_Nonsense_Mutation_p.K210*	p.K643*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2529	-		Ovarian(120;0.0955)	643			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.1927A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	39	7.424171	0.98275	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	.	.	.	5.79	5.79	0.91817	.	0.092366	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	.	.	.	X	643;650;643;650;650;643;633;643;210;643	.	ENSP00000265368:K643X	K	-	1	0	SYNE1	152828091	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.186000	0.72026	2.218000	0.71995	0.533000	0.62120	AAA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	84	0	0	0	0	34	84				
DAGLB	221955	broad.mit.edu	37	7	6452471	6452471	+	Nonsense_Mutation	SNP	G	G	A	rs562661517		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:6452471G>A	ENST00000297056.6	-	13	1709	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	DAGLB_ENST00000428902.2_Missense_Mutation_p.A373V|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.R385*|DAGLB_ENST00000436575.1_Nonsense_Mutation_p.R473*	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	514					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGACCACTCGCAAGATTCTT	0.592																																						uc003sqa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1540-1542)CGA>TGA		diacylglycerol lipase, beta isoform 1							70.0	56.0	61.0					7																	6452471		2202	4296	6498	SO:0001587	stop_gained	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6452471G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1540C>T	7.37:g.6452471G>A	ENSP00000297056:p.Arg514*					DAGLB_uc003spy.2_Nonsense_Mutation_p.R60*|DAGLB_uc003spz.2_Nonsense_Mutation_p.R211*|DAGLB_uc011jwt.1_Nonsense_Mutation_p.R328*|DAGLB_uc011jwu.1_Nonsense_Mutation_p.R385*|DAGLB_uc003sqb.2_Nonsense_Mutation_p.R233*|DAGLB_uc003sqc.2_Nonsense_Mutation_p.R233*|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Nonsense_Mutation_p.R473*	p.R514*	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	13	1710	-		Ovarian(82;0.232)	514			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	ENST00000297056.6	37	c.1540C>T	CCDS5350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.136385|3.136385	0.56936|0.56936	.|.	.|.	ENSG00000164535|ENSG00000164535	ENST00000428902|ENST00000297056;ENST00000425398;ENST00000436575	.|.	.|.	.|.	5.52|5.52	1.23|1.23	0.21249|0.21249	.|.	.|0.057175	.|0.64402	.|D	.|0.000002	T|.	0.49150|.	0.1540|.	.|.	.|.	.|.	0.47778|0.47778	D|D	0.999518|0.999518	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29640|.	-1.0005|.	5|.	0.35671|0.08837	T|T	0.21|0.75	-23.6083|-23.6083	15.9371|15.9371	0.79720|0.79720	0.0:0.0:0.355:0.645|0.0:0.0:0.355:0.645	.|.	.|.	.|.	.|.	V|X	373|514;385;473	.|.	ENSP00000416046:A373V|ENSP00000297056:R514X	A|R	-|-	2|1	0|2	DAGLB|DAGLB	6418996|6418996	0.994000|0.994000	0.37717|0.37717	0.058000|0.058000	0.19502|0.19502	0.090000|0.090000	0.18270|0.18270	2.124000|2.124000	0.42006|0.42006	0.309000|0.309000	0.22966|0.22966	-0.274000|-0.274000	0.10170|0.10170	GCG|CGA		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		3	14	0	0	0	0	3	14				
THSD7A	221981	broad.mit.edu	37	7	11676534	11676534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:11676534C>A	ENST00000423059.4	-	2	496	c.245G>T	c.(244-246)aGg>aTg	p.R82M	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	82	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACACAGCCCTCGTTTGGAT	0.463										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(244-246)AGG>ATG		thrombospondin, type I, domain containing 7A							93.0	94.0	93.0					7																	11676534		2044	4202	6246	SO:0001583	missense	221981					integral to membrane		g.chr7:11676534C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.245G>T	7.37:g.11676534C>A	ENSP00000406482:p.Arg82Met	HNSCC(18;0.044)					p.R82M	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	497	-			82			TSP type-1 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.245G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922421	0.92319	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.73575	-0.76	6.02	6.02	0.97574	.	0.000000	0.85682	U	0.000000	D	0.87521	0.6198	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87248	0.2271	10	0.66056	D	0.02	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	82	Q9UPZ6	THS7A_HUMAN	M	82	ENSP00000406482:R82M	ENSP00000262042:R82M	R	-	2	0	THSD7A	11643059	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	AGG		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		30	81	1	0	2.29e-06	2.54e-06	30	81				
AGMO	392636	broad.mit.edu	37	7	15470671	15470671	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:15470671T>A	ENST00000342526.3	-	4	641	c.472A>T	c.(472-474)Aca>Tca	p.T158S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	158					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTCAGTGCTGTGGATAAGTTA	0.358																																						uc003stb.1		NA																	0					0						c.(472-474)ACA>TCA		transmembrane protein 195							136.0	134.0	135.0					7																	15470671		2203	4299	6502	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15470671T>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.472A>T	7.37:g.15470671T>A	ENSP00000341662:p.Thr158Ser						p.T158S	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			4	642	-			158					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.472A>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079180	0.76528	.	.	ENSG00000187546	ENST00000342526	D	0.84223	-1.82	5.76	4.62	0.57501	Fatty acid hydroxylase (1);	0.110489	0.64402	D	0.000010	D	0.89185	0.6643	M	0.69823	2.125	0.42650	D	0.993445	P	0.46656	0.882	P	0.57057	0.812	D	0.88977	0.3405	10	0.62326	D	0.03	-14.4696	10.2106	0.43138	0.0:0.0748:0.0:0.9252	.	158	Q6ZNB7	ALKMO_HUMAN	S	158	ENSP00000341662:T158S	ENSP00000341662:T158S	T	-	1	0	AGMO	15437196	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.843000	0.62838	1.027000	0.39758	0.482000	0.46254	ACA		0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		38	84	0	0	0	0	38	84				
MPP6	51678	broad.mit.edu	37	7	24708126	24708126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:24708126C>A	ENST00000222644.5	+	9	1211	c.961C>A	c.(961-963)Cgt>Agt	p.R321S	MPP6_ENST00000409761.1_Missense_Mutation_p.R209S|MPP6_ENST00000396475.2_Missense_Mutation_p.R321S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAATTTGATCGTCATGAAAT	0.368																																						uc003swx.2		NA																	0					0						c.(961-963)CGT>AGT		membrane protein, palmitoylated 6							66.0	66.0	66.0					7																	24708126		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24708126C>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.961C>A	7.37:g.24708126C>A	ENSP00000222644:p.Arg321Ser					MPP6_uc003swy.2_Missense_Mutation_p.R321S|MPP6_uc010kur.2_5'UTR	p.R321S	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			10	1260	+			321					B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.961C>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842394	0.71488	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	D;D;D	0.81996	-1.56;-1.56;-1.56	5.2	5.2	0.72013	Src homology-3 domain (1);	0.000000	0.53938	D	0.000048	D	0.83092	0.5179	M	0.65975	2.015	0.80722	D	1	P	0.43024	0.798	B	0.41666	0.363	T	0.82362	-0.0495	10	0.30078	T	0.28	.	18.7341	0.91748	0.0:1.0:0.0:0.0	.	321	Q9NZW5	MPP6_HUMAN	S	321;209;321	ENSP00000222644:R321S;ENSP00000386262:R209S;ENSP00000379737:R321S	ENSP00000222644:R321S	R	+	1	0	MPP6	24674651	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	7.818000	0.86416	2.439000	0.82584	0.305000	0.20034	CGT		0.368	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			13	23	1	0	9.31e-06	1.02e-05	13	23				
COBL	23242	broad.mit.edu	37	7	51287530	51287530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:51287530C>G	ENST00000265136.7	-	2	318	c.153G>C	c.(151-153)ttG>ttC	p.L51F	COBL_ENST00000395540.2_Missense_Mutation_p.L51F|COBL_ENST00000395542.2_Missense_Mutation_p.L51F|COBL_ENST00000441453.1_Missense_Mutation_p.L51F	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	51					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCATGCGAACCAAGTTCTGCT	0.642																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(151-153)TTG>TTC		cordon-bleu homolog							62.0	61.0	61.0					7																	51287530		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51287530C>G	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.153G>C	7.37:g.51287530C>G	ENSP00000265136:p.Leu51Phe					COBL_uc003tps.2_Missense_Mutation_p.L51F|COBL_uc011kcl.1_Missense_Mutation_p.L51F|COBL_uc010kzc.2_Missense_Mutation_p.L51F|COBL_uc003tpt.2_Missense_Mutation_p.L51F	p.L51F	NM_015198	NP_056013	O75128	COBL_HUMAN			2	338	-	Glioma(55;0.08)		51					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.153G>C	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658912	0.29515	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.13901	2.63;2.55	5.73	2.58	0.30949	Cordon-bleu domain (1);	0.000000	0.34750	N	0.003716	T	0.34193	0.0889	M	0.65975	2.015	0.09310	N	1	D;D;D;D	0.89917	1.0;0.964;1.0;0.999	D;P;D;D	0.83275	0.996;0.805;0.995;0.996	T	0.12811	-1.0533	10	0.66056	D	0.02	.	14.4634	0.67467	0.1843:0.8157:0.0:0.0	.	51;51;51;51	O75128-3;O75128-5;O75128-7;O75128	.;.;.;COBL_HUMAN	F	51;51;51;51;35	ENSP00000265136:L51F;ENSP00000378912:L51F	ENSP00000265136:L51F	L	-	3	2	COBL	51255024	0.057000	0.20700	0.002000	0.10522	0.026000	0.11368	-0.345000	0.07770	0.800000	0.34041	0.655000	0.94253	TTG		0.642	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	72	0	0	0	0	5	72				
Unknown	0	broad.mit.edu	37	7	63679733	63679733	+	IGR	SNP	A	A	G	rs10270226	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:63679733A>G								GUSBP6 (68634 upstream) : ZNF679 (9118 downstream)																							GCCAGAGCAGAGCATAAAAGA	0.323													.|||	3369	0.672724	0.6702	0.6873	5008	,	,		17661	0.7798		0.6471	False		,,,				2504	0.5818					uc011kdn.1		NA																	0					0						c.(304-306)AGC>GGC		zinc finger protein 735							34.0	27.0	29.0					7																	63679733		692	1588	2280	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63679733A>G																													7.37:g.63679733A>G							p.S102G	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	304	+			102						Missense_Mutation	SNP		37	c.304A>G																																																																																				0	0.323									5	84	0	0	0	0	5	84				
ABCB1	5243	broad.mit.edu	37	7	87135328	87135328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:87135328G>A	ENST00000265724.3	-	28	3938	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T1110I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1174	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGAGAGCTGAGTTCCTTTGTC	0.403																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3520-3522)ACT>ATT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						165.0	148.0	154.0					7																	87135328		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135328G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3521C>T	7.37:g.87135328G>A	ENSP00000265724:p.Thr1174Ile					ABCB1_uc011khc.1_Missense_Mutation_p.T1110I	p.T1174I	NM_000927	NP_000918	P08183	MDR1_HUMAN			28	3939	-	Esophageal squamous(14;0.00164)		1174			Cytoplasmic (Potential).|ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3521C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073657	0.76415	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.93953	-3.32;-3.32	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.141660	0.64402	D	0.000006	D	0.91314	0.7261	N	0.02334	-0.595	0.58432	D	0.999997	P;D	0.53462	0.713;0.96	B;D	0.63488	0.239;0.915	D	0.94137	0.7393	10	0.87932	D	0	-16.2497	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1110;1174	B5AK60;P08183	.;MDR1_HUMAN	I	955;1174;1110	ENSP00000265724:T1174I;ENSP00000444095:T1110I	ENSP00000265724:T1174I	T	-	2	0	ABCB1	86973264	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.853000	0.99521	2.820000	0.97059	0.650000	0.86243	ACT		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		32	55	0	0	0	0	32	55				
DYNC1I1	1780	broad.mit.edu	37	7	95439771	95439771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:95439771C>G	ENST00000324972.6	+	3	369	c.176C>G	c.(175-177)aCa>aGa	p.T59R	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T59R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T59R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T59R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	59	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGACGAGAGACAGAGGCTTTG	0.453																																						uc003uoc.3		NA																	0				ovary(3)|kidney(1)	4						c.(175-177)ACA>AGA		dynein, cytoplasmic 1, intermediate chain 1							82.0	81.0	81.0					7																	95439771		2202	4300	6502	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95439771C>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.176C>G	7.37:g.95439771C>G	ENSP00000320130:p.Thr59Arg					DYNC1I1_uc003uod.3_Missense_Mutation_p.T59R|DYNC1I1_uc003uob.2_Missense_Mutation_p.T59R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.T59R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.T65R	p.T59R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		3	453	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		59			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.176C>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979569	0.92982	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T;T	0.75154	-0.64;2.58;-0.91;-0.71;-0.7;2.58;-0.64	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.81432	0.4821	L	0.52011	1.625	0.58432	D	0.999999	B;D;D;P;D	0.55800	0.175;0.973;0.973;0.955;0.973	B;P;P;P;P	0.59546	0.032;0.859;0.8;0.638;0.8	T	0.82686	-0.0334	10	0.59425	D	0.04	-14.6881	18.3447	0.90317	0.0:1.0:0.0:0.0	.	59;59;59;59;59	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	59	ENSP00000392337:T59R;ENSP00000320130:T59R;ENSP00000438377:T59R;ENSP00000398118:T59R;ENSP00000352348:T59R;ENSP00000428273:T59R;ENSP00000412444:T59R	ENSP00000320130:T59R	T	+	2	0	DYNC1I1	95277707	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.491000	0.81471	2.629000	0.89072	0.655000	0.94253	ACA		0.453	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		5	35	0	0	0	0	5	35				
CFTR	1080	broad.mit.edu	37	7	117235095	117235095	+	Missense_Mutation	SNP	G	G	A	rs397508406		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:117235095G>A	ENST00000003084.6	+	15	2734	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	CFTR_ENST00000454343.1_Missense_Mutation_p.V807I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	868	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTGGTGCTTAGTAATTTTTCT	0.333									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CX972736	CFTR	X		c.(2602-2604)GTA>ATA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						124.0	116.0	119.0					7																	117235095		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117235095G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2602G>A	7.37:g.117235095G>A	ENSP00000003084:p.Val868Ile					CFTR_uc011knq.1_Missense_Mutation_p.V274I	p.V868I	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		15	2734	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		868			Helical; Name=7; (Potential).|ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2602G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123687	0.08931	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94232	-3.38;-3.38;-3.38	5.58	2.74	0.32292	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.716191	0.14325	N	0.326735	D	0.87541	0.6203	L	0.39566	1.225	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.72357	-0.4318	10	0.18276	T	0.48	-4.7271	7.0144	0.24881	0.227:0.1309:0.642:0.0	.	868	P13569	CFTR_HUMAN	I	868;807;838	ENSP00000003084:V868I;ENSP00000403677:V807I;ENSP00000389119:V838I	ENSP00000003084:V868I	V	+	1	0	CFTR	117022331	0.000000	0.05858	0.001000	0.08648	0.573000	0.36030	0.735000	0.26115	0.373000	0.24621	0.591000	0.81541	GTA		0.333	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		17	36	0	0	0	0	17	36				
CHRM2	1129	broad.mit.edu	37	7	136700564	136700564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:136700564G>A	ENST00000445907.2	+	3	1480	c.952G>A	c.(952-954)Gag>Aag	p.E318K	hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318K|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318K|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.E318K|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318K|CHRM2_ENST00000453373.1_Missense_Mutation_p.E318K|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.E318K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTCCAAAGATGAGAACTCTAA	0.468																																						uc003vtf.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)	5						c.(952-954)GAG>AAG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						96.0	98.0	98.0					7																	136700564		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700564G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.952G>A	7.37:g.136700564G>A	ENSP00000399745:p.Glu318Lys					CHRM2_uc003vtg.1_Missense_Mutation_p.E318K|CHRM2_uc003vtj.1_Missense_Mutation_p.E318K|CHRM2_uc003vtk.1_Missense_Mutation_p.E318K|CHRM2_uc003vtl.1_Missense_Mutation_p.E318K|CHRM2_uc003vtm.1_Missense_Mutation_p.E318K|CHRM2_uc003vti.1_Missense_Mutation_p.E318K|CHRM2_uc003vto.1_Missense_Mutation_p.E318K|CHRM2_uc003vtn.1_Missense_Mutation_p.E318K|uc003vtp.1_Intron	p.E318K	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1575	+			318			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.952G>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	5.030	0.191169	0.09547	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.180851	0.37012	N	0.002300	T	0.42720	0.1215	N	0.19112	0.55	0.39824	D	0.972878	B	0.13145	0.007	B	0.15052	0.012	T	0.39292	-0.9621	10	0.07482	T	0.82	-5.9838	19.1729	0.93588	0.0:0.0:1.0:0.0	.	318	P08172	ACM2_HUMAN	K	318	ENSP00000399745:E318K;ENSP00000415386:E318K;ENSP00000319984:E318K;ENSP00000380733:E318K;ENSP00000384937:E318K;ENSP00000384401:E318K	ENSP00000319984:E318K	E	+	1	0	CHRM2	136351104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.817000	0.86213	2.541000	0.85698	0.655000	0.94253	GAG		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			33	74	0	0	0	0	33	74				
SSPO	23145	broad.mit.edu	37	7	149493814	149493814	+	RNA	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:149493814G>A	ENST00000378016.2	+	0	6810							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGTTGCTGCCTGAGG	0.652																																						uc010lpk.2		NA																	0					0						c.(6808-6810)TTG>TTA		SCO-spondin precursor							102.0	106.0	104.0					7																	149493814		2158	4247	6405			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493814G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493814G>A							p.L2270L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		46	6810	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2270					Q76B61	Silent	SNP	ENST00000378016.2	37	c.6810G>A																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	10	0	0	0	0	4	10				
MYOM2	9172	broad.mit.edu	37	8	2024315	2024315	+	Silent	SNP	G	G	A	rs563008335		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2024315G>A	ENST00000262113.4	+	11	1356	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		14476	0.001		0.0	False		,,,				2504	0.0					uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1213-1215)CCG>CCA		myomesin 2							50.0	47.0	48.0					8																	2024315		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2024315G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1215G>A	8.37:g.2024315G>A						MYOM2_uc011kwi.1_Intron	p.P405P	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	11	1353	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	405			Fibronectin type-III 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1215G>A	CCDS5957.1																																																																																				0.622	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		10	18	0	0	0	0	10	18				
CSMD1	64478	broad.mit.edu	37	8	2820134	2820134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2820134G>A	ENST00000520002.1	-	62	10040	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P3162L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3162	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9484-9486)CCC>CTC		CUB and Sushi multiple domains 1 precursor							37.0	37.0	37.0					8																	2820134		1904	4118	6022	SO:0001583	missense	64478					integral to membrane		g.chr8:2820134G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9485C>T	8.37:g.2820134G>A	ENSP00000430733:p.Pro3162Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.P2491L|CSMD1_uc010lrg.2_Missense_Mutation_p.P1053L	p.P3162L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9875	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3162			Extracellular (Potential).|Sushi 26.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9485C>T		.	.	.	.	.	.	.	.	.	.	G	15.16	2.750989	0.49257	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000001	T	0.78654	0.4317	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	0.998;0.959;1.0	T	0.78914	-0.2016	10	0.49607	T	0.09	.	19.6087	0.95589	0.0:0.0:1.0:0.0	.	3162;3162;2984	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2985;3162;3023;3161;2984	ENSP00000383047:P2985L;ENSP00000430733:P3162L;ENSP00000441462:P3161L;ENSP00000446243:P2984L	ENSP00000320445:P3023L	P	-	2	0	CSMD1	2807541	1.000000	0.71417	0.210000	0.23637	0.043000	0.13939	9.137000	0.94496	2.639000	0.89480	0.655000	0.94253	CCC		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	28	0	0	0	0	9	28				
NECAB1	64168	broad.mit.edu	37	8	91929769	91929769	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:91929769T>A	ENST00000417640.2	+	6	744	c.407T>A	c.(406-408)tTg>tAg	p.L136*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	136						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGATTTTTATTGAAGGAAACC	0.403																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(406-408)TTG>TAG		N-terminal EF-hand calcium binding protein 1							89.0	86.0	87.0					8																	91929769		1823	4076	5899	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929769T>A	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.407T>A	8.37:g.91929769T>A	ENSP00000387380:p.Leu136*						p.L136*	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	601	+			136			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.407T>A	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	T	39	7.424081	0.98275	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.58	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7758	12.8206	0.57690	0.0:0.0:0.1366:0.8634	.	.	.	.	X	136	.	ENSP00000387380:L136X	L	+	2	0	NECAB1	91998945	1.000000	0.71417	0.956000	0.39512	0.934000	0.57294	7.152000	0.77419	0.925000	0.37094	0.460000	0.39030	TTG		0.403	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		15	31	0	0	0	0	15	31				
TSPYL5	85453	broad.mit.edu	37	8	98290055	98290055	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:98290055C>A	ENST00000322128.3	-	1	121	c.18G>T	c.(16-18)cgG>cgT	p.R6R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	6					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACTTTCGACCCCGACTTCGGC	0.706																																						uc003yhy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(16-18)CGG>CGT		TSPY-like 5							10.0	10.0	10.0					8																	98290055		2144	4191	6335	SO:0001819	synonymous_variant	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98290055C>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.18G>T	8.37:g.98290055C>A							p.R6R	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	122	-	Breast(36;2.56e-06)		6					B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	c.18G>T	CCDS34927.1																																																																																				0.706	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		7	6	1	0	3.1e-07	3.53e-07	7	6				
ABRA	137735	broad.mit.edu	37	8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:107782189C>A	ENST00000311955.3	-	1	284	c.230G>T	c.(229-231)aGt>aTt	p.S77I		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.S77I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572																																						uc003ymm.3		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(229-231)AGT>ATT		actin-binding Rho activating protein							101.0	100.0	100.0					8																	107782189		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782189C>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.230G>T	8.37:g.107782189C>A	ENSP00000311436:p.Ser77Ile						p.S77I	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	284	-			77						Missense_Mutation	SNP	ENST00000311955.3	37	c.230G>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	1.498	-0.552862	0.03996	.	.	ENSG00000174429	ENST00000311955	D	0.93426	-3.22	5.08	0.994	0.19832	.	0.993512	0.08189	N	0.984193	D	0.88142	0.6357	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.74121	-0.3767	10	0.40728	T	0.16	.	2.6099	0.04888	0.1333:0.2909:0.3915:0.1844	.	77	Q8N0Z2	ABRA_HUMAN	I	77	ENSP00000311436:S77I	ENSP00000311436:S77I	S	-	2	0	ABRA	107851365	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.436000	0.06922	-0.104000	0.12154	0.655000	0.94253	AGT		0.572	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		31	89	1	0	3.11e-16	3.81e-16	31	89				
PTK2	5747	broad.mit.edu	37	8	141900746	141900746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:141900746C>A	ENST00000522684.1	-	3	320	c.91G>T	c.(91-93)Ggt>Tgt	p.G31C	PTK2_ENST00000519419.1_Missense_Mutation_p.G75C|PTK2_ENST00000521059.1_Missense_Mutation_p.G31C|PTK2_ENST00000340930.3_Missense_Mutation_p.G31C|PTK2_ENST00000519881.1_Missense_Mutation_p.G31C|PTK2_ENST00000517887.1_Missense_Mutation_p.G75C|PTK2_ENST00000535192.1_Missense_Mutation_p.G31C|PTK2_ENST00000520892.1_Missense_Mutation_p.G31C|PTK2_ENST00000395218.2_Missense_Mutation_p.G31C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	31					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCATTGCACCAGGAGAACGT	0.443																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(91-93)GGT>TGT		PTK2 protein tyrosine kinase 2 isoform a							127.0	106.0	113.0					8																	141900746		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141900746C>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.91G>T	8.37:g.141900746C>A	ENSP00000429911:p.Gly31Cys					PTK2_uc003yvs.2_Missense_Mutation_p.G31C|PTK2_uc003yvt.2_Missense_Mutation_p.G53C|PTK2_uc003yvv.2_5'UTR|PTK2_uc011ljr.1_Missense_Mutation_p.G31C	p.G31C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		3	321	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	31					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.91G>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.934348|4.934348	0.92458|0.92458	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000524357;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395;ENST00000521332;ENST00000524040|ENST00000519654	T;T;T;T;T;T;T|.	0.79141|.	-1.19;-1.16;-1.24;-1.19;-1.18;-1.18;-1.24|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Band 4.1 domain (1);|.	0.046187|.	0.85682|.	D|.	0.000000|.	T|T	0.72985|0.72985	0.3529|0.3529	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.997;0.987;0.994|.	D;P;P;P|.	0.65573|.	0.936;0.904;0.739;0.871|.	T|T	0.69522|0.69522	-0.5123|-0.5123	10|5	0.54805|.	T|.	0.06|.	.|.	19.5198|19.5198	0.95180|0.95180	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	31;31;53;31|.	B4E2N6;Q05397;Q658W2;Q8IYN9|.	.;FAK1_HUMAN;.;.|.	C|L	31;31;75;31;31;31;75;31;31;31;31;31;31;31;31;31;31;31|41	ENSP00000429911:G31C;ENSP00000438009:G31C;ENSP00000429082:G75C;ENSP00000429474:G31C;ENSP00000378644:G31C;ENSP00000341189:G31C;ENSP00000429129:G75C|.	ENSP00000341189:G31C|.	G|W	-|-	1|2	0|0	PTK2|PTK2	141969928|141969928	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	5.376000|5.376000	0.66178|0.66178	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.443	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		27	76	1	0	1.18e-14	1.43e-14	27	76				
PLEC	5339	broad.mit.edu	37	8	144990748	144990748	+	Missense_Mutation	SNP	C	C	T	rs373265918		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144990748C>T	ENST00000322810.4	-	32	13821	c.13652G>A	c.(13651-13653)cGc>cAc	p.R4551H	PLEC_ENST00000345136.3_Missense_Mutation_p.R4414H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4400H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4437H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4414H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4392H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4382H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4441H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4418H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4551	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGTGCCGCGCTGCAGGGC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		12621	0.0		0.0	False		,,,				2504	0.001					uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13651-13653)CGC>CAC		plectin isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3906		0,0,1953	38.0	41.0	40.0		13322,13199,13175,13652,13145,13241,13253,13241	3.0	0.9	8		40	1,8213		0,1,4106	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	29,29,29,29,29,29,29,29	0,1,6059	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	4441/4575,4400/4534,4392/4526,4551/4685,4382/4516,4414/4548,4418/4552,4414/4548	144990748	1,12119	1953	4107	6060	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144990748C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13652G>A	8.37:g.144990748C>T	ENSP00000323856:p.Arg4551His					PLEC_uc003zab.1_Missense_Mutation_p.R4414H|PLEC_uc003zac.1_Missense_Mutation_p.R4418H|PLEC_uc003zad.2_Missense_Mutation_p.R4414H|PLEC_uc003zae.1_Missense_Mutation_p.R4382H|PLEC_uc003zag.1_Missense_Mutation_p.R4392H|PLEC_uc003zah.2_Missense_Mutation_p.R4400H|PLEC_uc003zaj.2_Missense_Mutation_p.R4441H	p.R4551H	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13822	-			4551			Plectin 32.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13652G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023667	0.08006	0.0	1.22E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.05	3.01	0.34805	.	0.218020	0.29861	U	0.011014	T	0.76154	0.3948	L	0.53561	1.675	0.35141	D	0.768824	D;D;D;D;D;D;D;D	0.57571	0.975;0.975;0.975;0.98;0.975;0.975;0.975;0.975	P;P;P;P;P;P;P;P	0.52758	0.46;0.46;0.46;0.708;0.46;0.584;0.46;0.46	T	0.80377	-0.1408	10	0.72032	D	0.01	.	4.4403	0.11570	0.0:0.4987:0.0:0.5013	.	4441;4400;4392;4551;4382;4414;4418;4414	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	4414;4418;4414;4382;4551;4392;4400;4441;4437	ENSP00000344848:R4414H;ENSP00000350277:R4418H;ENSP00000346602:R4414H;ENSP00000381756:R4382H;ENSP00000323856:R4551H;ENSP00000347044:R4392H;ENSP00000348702:R4400H;ENSP00000388180:R4441H;ENSP00000434583:R4437H	ENSP00000323856:R4551H	R	-	2	0	PLEC	145062736	0.965000	0.33210	0.924000	0.36721	0.023000	0.10783	1.630000	0.37081	1.252000	0.44001	0.643000	0.83706	CGC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	75	0	0	0	0	7	75				
ALDH1A1	216	broad.mit.edu	37	9	75531989	75531989	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:75531989C>T	ENST00000297785.3	-	9	936	c.882G>A	c.(880-882)ggG>ggA	p.G294G	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	294					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GGTAGAATACCCCATGGTGTG	0.378																																						uc004ajd.2		NA																	0				ovary(3)|lung(1)	4						c.(880-882)GGG>GGA		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						103.0	107.0	106.0					9																	75531989		2203	4300	6503	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75531989C>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.882G>A	9.37:g.75531989C>T						ALDH1A1_uc011lsh.1_Silent_p.G215G|ALDH1A1_uc011lsg.1_Silent_p.G120G	p.G294G	NM_000689	NP_000680	P00352	AL1A1_HUMAN			9	935	-			294					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.882G>A	CCDS6644.1																																																																																				0.378	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			60	101	0	0	0	0	60	101				
GABBR2	9568	broad.mit.edu	37	9	101216493	101216493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:101216493G>T	ENST00000259455.2	-	7	1465	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	336					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATACTGCTGTGGAGTCTGG	0.547																																						uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(1006-1008)CAG>AAG		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						102.0	96.0	98.0					9																	101216493		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216493G>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1006C>A	9.37:g.101216493G>T	ENSP00000259455:p.Gln336Lys						p.Q336K	NM_005458	NP_005449	O75899	GABR2_HUMAN			7	1162	-		Acute lymphoblastic leukemia(62;0.0527)	336			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1006C>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835440	0.50951	.	.	ENSG00000136928	ENST00000259455	T	0.19806	2.12	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.053161	0.85682	D	0.000000	T	0.19846	0.0477	L	0.41415	1.275	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.05566	-1.0877	10	0.16420	T	0.52	.	17.5351	0.87827	0.0:0.0:1.0:0.0	.	336	O75899	GABR2_HUMAN	K	336	ENSP00000259455:Q336K	ENSP00000259455:Q336K	Q	-	1	0	GABBR2	100256314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.548000	0.82154	2.751000	0.94390	0.650000	0.86243	CAG		0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			25	64	1	0	1.13e-08	1.32e-08	25	64				
MUSK	4593	broad.mit.edu	37	9	113445040	113445040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:113445040C>A	ENST00000374448.4	+	2	300	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	MUSK_ENST00000189978.5_Missense_Mutation_p.Q56K|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.Q56K	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	56	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCTACCCCCAGCCTGAGAT	0.373																																						uc004bey.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(166-168)CAG>AAG		skeletal muscle receptor tyrosine kinase							125.0	114.0	117.0					9																	113445040		1834	4090	5924	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113445040C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.166C>A	9.37:g.113445040C>A	ENSP00000363571:p.Gln56Lys					MUSK_uc004bex.2_Missense_Mutation_p.Q56K	p.Q56K	NM_005592	NP_005583	O15146	MUSK_HUMAN			2	264	+			56			Ig-like 1.|Extracellular (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.166C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899194	0.52227	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.66995	-0.24	5.57	5.57	0.84162	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230904	0.38436	N	0.001691	T	0.34106	0.0886	N	0.01705	-0.755	0.80722	D	1	B;B	0.31209	0.06;0.313	B;B	0.32624	0.06;0.149	T	0.46247	-0.9205	10	0.06365	T	0.9	.	8.3653	0.32382	0.0:0.7475:0.1695:0.083	.	56;56	O15146;F5H6T2	MUSK_HUMAN;.	K	56	ENSP00000363571:Q56K	ENSP00000189978:Q56K	Q	+	1	0	MUSK	112484861	0.967000	0.33354	0.999000	0.59377	0.982000	0.71751	2.191000	0.42640	2.607000	0.88179	0.557000	0.71058	CAG		0.373	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				11	115	1	0	0.000673444	0.00071281	11	115				
MAPKAP1	79109	broad.mit.edu	37	9	128206807	128206807	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:128206807A>G	ENST00000373498.1	-	10	1484	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373503.3_Silent_p.A280A|MAPKAP1_ENST00000394063.1_Silent_p.A280A|MAPKAP1_ENST00000265960.3_Silent_p.A472A|MAPKAP1_ENST00000373497.5_Silent_p.A185A|MAPKAP1_ENST00000350766.3_Silent_p.A436A|MAPKAP1_ENST00000373511.2_Silent_p.A425A			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	472	Interaction with ATF2.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGACGGTAGCAGCGTCCGATT	0.473																																						uc004bpv.2		NA																	0				ovary(2)|lung(2)	4						c.(1414-1416)GCT>GCC		mitogen-activated protein kinase associated							191.0	167.0	175.0					9																	128206807		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128206807A>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1416T>C	9.37:g.128206807A>G						MAPKAP1_uc011lzt.1_Silent_p.A275A|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.A275A|MAPKAP1_uc011lzv.1_Silent_p.A180A|MAPKAP1_uc004bpw.2_Silent_p.A280A|MAPKAP1_uc004bpx.2_Silent_p.A280A|MAPKAP1_uc004bpy.2_Silent_p.A436A|MAPKAP1_uc004bpz.2_Silent_p.A425A|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bpu.2_RNA	p.A472A	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			11	1749	-			472			Interaction with ATF2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.1416T>C	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707373	0.30322	.	.	ENSG00000119487	ENST00000444226	.	.	.	5.91	0.807	0.18714	.	.	.	.	.	T	0.45276	0.1334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-4.3586	3.6643	0.08250	0.4301:0.0:0.1998:0.3701	.	.	.	.	R	44	.	.	C	-	1	0	MAPKAP1	127246628	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.546000	0.45778	-0.098000	0.12285	0.533000	0.62120	TGC		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			53	93	0	0	0	0	53	93				
FAM102A	399665	broad.mit.edu	37	9	130707135	130707135	+	Missense_Mutation	SNP	G	G	T	rs139831125		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:130707135G>T	ENST00000373095.1	-	9	1335	c.960C>A	c.(958-960)gaC>gaA	p.D320E	FAM102A_ENST00000373084.4_Missense_Mutation_p.D178E|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	320										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCGCGTGTCGTCCACCCAGG	0.617																																						uc004bsx.1		NA																	0				ovary(1)	1						c.(958-960)GAC>GAA		early estrogen-induced gene 1 protein isoform a							74.0	58.0	63.0					9																	130707135		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130707135G>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.960C>A	9.37:g.130707135G>T	ENSP00000362187:p.Asp320Glu					FAM102A_uc004bsw.1_Missense_Mutation_p.D178E|FAM102A_uc004bsy.1_Missense_Mutation_p.D48E	p.D320E	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			9	1039	-			320					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.960C>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570856	0.45798	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.46063	0.88;0.88	5.61	-3.09	0.05331	.	0.194679	0.53938	D	0.000060	T	0.35335	0.0928	L	0.59436	1.845	0.50313	D	0.999861	P	0.41232	0.743	B	0.39339	0.297	T	0.24225	-1.0166	10	0.72032	D	0.01	-17.7055	11.5232	0.50565	0.6184:0.0:0.3816:0.0	.	320	Q5T9C2	F102A_HUMAN	E	320;178	ENSP00000362187:D320E;ENSP00000362176:D178E	ENSP00000362176:D178E	D	-	3	2	FAM102A	129746956	0.998000	0.40836	0.964000	0.40570	0.470000	0.32858	0.775000	0.26689	-0.850000	0.04152	-2.205000	0.00302	GAC		0.617	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			10	34	1	0	7.48e-07	8.41e-07	10	34				
BARHL1	56751	broad.mit.edu	37	9	135462840	135462840	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:135462840C>T	ENST00000263610.2	+	2	1204	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BARHL1_ENST00000542090.1_Silent_p.F197F	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	197					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGCGCAGCTTCGAGCGGCAGA	0.657																																						uc004cbp.1		NA																	0					0						c.(589-591)TTC>TTT		BarH-like homeobox 1							28.0	23.0	24.0					9																	135462840		2201	4299	6500	SO:0001819	synonymous_variant	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135462840C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.591C>T	9.37:g.135462840C>T							p.F197F	NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	2	783	+			197			Homeobox.		Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	c.591C>T	CCDS6950.1																																																																																				0.657	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			10	20	0	0	0	0	10	20				
SURF4	6836	broad.mit.edu	37	9	136234283	136234283	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:136234283C>T	ENST00000371989.3	-	2	216	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SURF4_ENST00000485435.2_Silent_p.A29A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.A29A|SURF4_ENST00000371991.3_Silent_p.A29A	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	29					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GACAGAGGCGCGCCACGTGGG	0.642																																						uc004cdj.2		NA																	0					0						c.(85-87)GCG>GCA		surfeit 4							94.0	79.0	84.0					9																	136234283		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234283C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.87G>A	9.37:g.136234283C>T						SURF4_uc011mda.1_Silent_p.A20A|SURF4_uc010nal.2_Silent_p.A61A|SURF4_uc011mdb.1_5'UTR|SURF4_uc011mdc.1_5'UTR|SURF4_uc011mdd.1_Silent_p.A29A	p.A29A	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	217	-			29					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.87G>A	CCDS6968.1																																																																																				0.642	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		6	62	0	0	0	0	6	62				
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	A	rs201840964		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:3238516G>A	ENST00000217939.6	-	5	5364	c.5210C>T	c.(5209-5211)aCt>aTt	p.T1737I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1737						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5209-5211)ACT>ATT		adlican precursor							63.0	58.0	60.0					X																	3238516		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238516G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5210C>T	X.37:g.3238516G>A	ENSP00000217939:p.Thr1737Ile						p.T1737I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5367	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1737					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5210C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226916	0.22542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.18	0.937	0.19494	.	0.188886	0.25394	U	0.030985	T	0.61350	0.2340	N	0.08118	0	0.21290	N	0.999734	D	0.71674	0.998	D	0.77557	0.99	T	0.55036	-0.8203	10	0.72032	D	0.01	.	10.42	0.44344	0.0:0.0:0.6737:0.3263	.	1737	Q9NR99	MXRA5_HUMAN	I	1737	ENSP00000217939:T1737I	ENSP00000217939:T1737I	T	-	2	0	MXRA5	3248516	0.989000	0.36119	0.039000	0.18376	0.540000	0.34992	2.660000	0.46749	1.220000	0.43490	0.287000	0.19450	ACT		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	10	0	0	0	0	4	10				
CDKL5	6792	broad.mit.edu	37	X	18606257	18606257	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:18606257G>T	ENST00000379989.3	+	10	1023	c.738G>T	c.(736-738)ggG>ggT	p.G246G	CDKL5_ENST00000379996.3_Silent_p.G246G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTTCCATGGGCTCCGGGTAA	0.403																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(736-738)GGG>GGT		cyclin-dependent kinase-like 5							138.0	135.0	136.0					X																	18606257		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18606257G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.738G>T	X.37:g.18606257G>T						CDKL5_uc004cyn.2_Silent_p.G246G	p.G246G	NM_003159	NP_003150	O76039	CDKL5_HUMAN			9	991	+	Hepatocellular(33;0.183)		246			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.738G>T	CCDS14186.1																																																																																				0.403	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		44	55	1	0	2.69e-26	3.37e-26	44	55				
FAM47C	442444	broad.mit.edu	37	X	37028185	37028185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028185T>C	ENST00000358047.3	+	1	1754	c.1702T>C	c.(1702-1704)Tac>Cac	p.Y568H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	568										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCGGATGTACAGTCTCCG	0.647																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(1702-1704)TAC>CAC		hypothetical protein LOC442444							48.0	53.0	52.0					X																	37028185		2201	4300	6501	SO:0001583	missense	442444							g.chrX:37028185T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1702T>C	X.37:g.37028185T>C	ENSP00000367913:p.Tyr568His						p.Y568H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1716	+			568					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1702T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.026	-1.370403	0.01225	.	.	ENSG00000198173	ENST00000358047	T	0.13420	2.59	1.37	-2.75	0.05914	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	P	0.42078	0.77	B	0.29716	0.106	T	0.32188	-0.9916	9	0.40728	T	0.16	.	2.7246	0.05210	0.0:0.2911:0.4032:0.3057	.	568	Q5HY64	FA47C_HUMAN	H	568	ENSP00000367913:Y568H	ENSP00000367913:Y568H	Y	+	1	0	FAM47C	36938106	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.586000	0.05898	-0.870000	0.02990	TAC		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	33	0	0	0	0	25	33				
TBC1D25	4943	broad.mit.edu	37	X	48419318	48419318	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:48419318G>A	ENST00000376771.4	+	6	2363	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.E420E	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	674					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCAGTCAGAGGTGTGGGACT	0.597																																						uc004dka.1		NA																	0				ovary(1)	1						c.(2020-2022)GAG>GAA		TBC1 domain family, member 25							21.0	23.0	22.0					X																	48419318		2201	4292	6493	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48419318G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.2022G>A	X.37:g.48419318G>A						TBC1D25_uc011mly.1_Silent_p.E616E|TBC1D25_uc004dkb.1_Silent_p.E420E|TBC1D25_uc011mlz.1_Silent_p.E420E|TBC1D25_uc011mma.1_Silent_p.E420E|TBC1D25_uc004dkc.1_Silent_p.E420E|TBC1D25_uc011mmb.1_Silent_p.E678E|TBC1D25_uc011mmc.1_Silent_p.E420E|TBC1D25_uc011mmd.1_Silent_p.E420E	p.E674E	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	2133	+			674					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.2022G>A	CCDS35242.1																																																																																				0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		14	8	0	0	0	0	14	8				
GNL3L	54552	broad.mit.edu	37	X	54569430	54569430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:54569430G>A	ENST00000336470.4	+	6	488	c.349G>A	c.(349-351)Gac>Aac	p.D117N	GNL3L_ENST00000360845.2_Missense_Mutation_p.D117N|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	117					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D117N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCAGCTGGATGACGAGGCCAC	0.488																																						uc004dth.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(349-351)GAC>AAC		guanine nucleotide binding protein-like 3							77.0	72.0	73.0					X																	54569430		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54569430G>A	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.349G>A	X.37:g.54569430G>A	ENSP00000338573:p.Asp117Asn					GNL3L_uc004dti.2_RNA	p.D117N	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			6	488	+			117						Missense_Mutation	SNP	ENST00000336470.4	37	c.349G>A	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	8.412	0.844431	0.16963	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17691	2.26;2.26	3.58	1.7	0.24286	.	0.216956	0.44902	D	0.000409	T	0.03915	0.0110	N	0.01188	-0.97	0.37959	D	0.932914	B	0.15141	0.012	B	0.12837	0.008	T	0.28332	-1.0047	10	0.14656	T	0.56	-7.4011	2.4367	0.04485	0.3402:0.2699:0.3899:0.0	.	117	Q9NVN8	GNL3L_HUMAN	N	117	ENSP00000338573:D117N;ENSP00000354091:D117N	ENSP00000338573:D117N	D	+	1	0	GNL3L	54586155	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	3.845000	0.55880	0.596000	0.29794	0.506000	0.49869	GAC		0.488	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	11	0	0	0	0	10	11				
MCF2	4168	broad.mit.edu	37	X	138687074	138687074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:138687074C>A	ENST00000370576.4	-	14	1836	c.1627G>T	c.(1627-1629)Gac>Tac	p.D543Y	MCF2_ENST00000519895.1_Missense_Mutation_p.D619Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D543Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D688Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D504Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D559Y|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Missense_Mutation_p.D603Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D603Y	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATGTCCTTTTTATTT	0.313																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1627-1629)GAC>TAC		MCF.2 cell line derived transforming sequence							123.0	115.0	117.0					X																	138687074		2203	4298	6501	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138687074C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1627G>T	X.37:g.138687074C>A	ENSP00000359608:p.Asp543Tyr					MCF2_uc004fav.2_Missense_Mutation_p.D559Y|MCF2_uc011mwl.1_Missense_Mutation_p.D520Y|MCF2_uc010nsh.1_Missense_Mutation_p.D543Y|MCF2_uc011mwm.1_Missense_Mutation_p.D504Y|MCF2_uc011mwn.1_Missense_Mutation_p.D688Y|MCF2_uc004faw.2_Missense_Mutation_p.D603Y|MCF2_uc011mwo.1_Missense_Mutation_p.D619Y	p.D543Y	NM_005369	NP_005360	P10911	MCF2_HUMAN			14	1921	-	Acute lymphoblastic leukemia(192;0.000127)		543			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1627G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.09|13.09	2.133374|2.133374	0.37630|0.37630	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.63913|.	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Dbl homology (DH) domain (5);|.	0.146267|.	0.64402|.	D|.	0.000013|.	T|T	0.61438|0.61438	0.2347|0.2347	L|L	0.55481|0.55481	1.735|1.735	0.46317|0.46317	D|D	0.998981|0.998981	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.87578|.	0.997;0.997;0.987;0.998;0.981;0.996;0.996;0.998|.	T|T	0.60214|0.60214	-0.7307|-0.7307	10|5	0.87932|.	D|.	0|.	.|.	10.5374|10.5374	0.45013|0.45013	0.0:0.9096:0.0:0.0904|0.0:0.9096:0.0:0.0904	.|.	619;688;504;543;543;688;559;543|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	Y|V	603;543;504;688;603;146;619;543;559|46	ENSP00000427745:D603Y;ENSP00000359608:D543Y;ENSP00000438155:D504Y;ENSP00000359610:D688Y;ENSP00000397055:D603Y;ENSP00000405848:D146Y;ENSP00000430276:D619Y;ENSP00000359605:D543Y;ENSP00000342204:D559Y|.	ENSP00000342204:D559Y|.	D|G	-|-	1|2	0|0	MCF2|MCF2	138514740|138514740	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.164000|0.164000	0.22412|0.22412	4.595000|4.595000	0.61048|0.61048	2.190000|2.190000	0.69967|0.69967	0.544000|0.544000	0.68410|0.68410	GAC|GGA		0.313	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		54	58	1	0	1.27e-15	1.55e-15	54	58				
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						uc001jkf.2		NA																	0					0						c.(430-432)ACAfs		transcription factor A, mitochondrial precursor							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs					TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN			4	564	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		9	98	NA	NA	NA	NA	9	98	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2927360	2927360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:2927360delA	ENST00000228799.2	+	4	462	c.323delA	c.(322-324)gagfs	p.E108fs	ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	108					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCACCACGAGACACTAATC	0.537																																						uc001qlb.1		NA																	0					0						c.(322-324)GAGfs		integrin alpha FG-GAP repeat containing 2							162.0	136.0	145.0					12																	2927360		2203	4300	6503	SO:0001589	frameshift_variant	55846							g.chr12:2927360delA	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.323delA	12.37:g.2927360delA	ENSP00000228799:p.Glu108fs					ITFG2_uc001qla.1_Frame_Shift_Del_p.E108fs|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	p.E108fs	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	387	+			108					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Frame_Shift_Del	DEL	ENST00000228799.2	37	c.323delA	CCDS8513.1																																																																																				0.537	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		28	37	NA	NA	NA	NA	28	37	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	A	rs558156059		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:41857341_41857342insA	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						uc001zof.1		NA																	0				ovary(3)|lung(2)|central_nervous_system(1)	6						c.e6+2		TYRO3 protein tyrosine kinase precursor																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->A	15.37:g.41857342_41857342dupA							p.Q261_splice	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)						O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37	c.783_splice	CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		Intron	16	13	NA	NA	NA	NA	16	13	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2143887	2143888	+	Frame_Shift_Ins	INS	-	-	G	rs368766213		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:2143887_2143888insG	ENST00000262304.4	-	36	10953_10954	c.10745_10746insC	c.(10744-10746)ccgfs	p.P3582fs	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Ins_p.P3581fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3582					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTCACGCCCGGGGGGAAGCT	0.698																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3	GRCh37	CD076868	PKD1	D		c.(10744-10746)CCGfs		polycystin 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143887_2143888insG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10746dupC	16.37:g.2143893_2143893dupG	ENSP00000262304:p.Pro3582fs					PKD1_uc002cot.1_Frame_Shift_Ins_p.P3581fs|PKD1_uc010bse.1_RNA	p.P3582fs	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			36	10954_10955	-			3582			Extracellular (Potential).		Q15140|Q15141	Frame_Shift_Ins	INS	ENST00000262304.4	37	c.10745_10746insC	CCDS32369.1																																																																																				0.698	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577554	7577564	+	Frame_Shift_Del	DEL	TGCAGGAACTG	TGCAGGAACTG	-	rs121912655|rs397516437|rs28934573|rs375874539		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7577554_7577564delTGCAGGAACTG	ENST00000269305.4	-	7	906_916	c.717_727delCAGTTCCTGCA	c.(715-729)aacagttcctgcatgfs	p.SSCM240fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.SSCM240fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.SSCM240fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SSCM240fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SSCM240fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SSCM240fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	240	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.S241C(26)|p.C242fs*5(16)|p.S240G(14)|p.C242R(12)|p.M243L(10)|p.S241fs*6(9)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.S241A(8)|p.N239K(7)|p.C242W(7)|p.C149F(6)|p.S240I(6)|p.S241del(5)|p.?(5)|p.S148F(4)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.N239fs*25(2)|p.S240fs*7(2)|p.C149Y(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S241fs*22(2)|p.S148T(1)|p.S148C(1)|p.N239*(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.C238fs*21(1)|p.N239S(1)|p.C242fs*98(1)|p.N239N(1)|p.M144_N146delMCN(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.S240fs*23(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGCCGCCCATGCAGGAACTGTTACACATGT	0.583		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		480	Substitution - Missense(380)|Deletion - Frameshift(39)|Deletion - In frame(20)|Insertion - Frameshift(8)|Whole gene deletion(8)|Substitution - coding silent(8)|Unknown(5)|Substitution - Nonsense(4)|Insertion - In frame(4)|Complex - deletion inframe(2)|Complex - frameshift(1)|Complex - insertion inframe(1)	p.S241F(73)|p.C242F(63)|p.C242Y(37)|p.N239D(31)|p.C242S(25)|p.S241C(24)|p.N239S(19)|p.C242fs*5(16)|p.S240G(14)|p.N239fs*25(12)|p.C242R(11)|p.M243L(10)|p.S240R(8)|p.S241fs*6(8)|p.C242W(7)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.N239K(6)|p.S240I(6)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.N239N(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.S240fs*23(1)|p.C238_N239insX(1)|p.N239_C242del(1)	lung(59)|large_intestine(48)|breast(45)|ovary(43)|upper_aerodigestive_tract(36)|urinary_tract(34)|oesophagus(30)|haematopoietic_and_lymphoid_tissue(28)|central_nervous_system(27)|liver(23)|endometrium(21)|biliary_tract(18)|stomach(15)|skin(11)|soft_tissue(8)|pancreas(8)|bone(8)|prostate(5)|kidney(3)|thyroid(3)|cervix(3)|eye(3)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD984149|CM910618|CM920673|CM942121	TP53	D|M	rs121912655|rs28934573	c.(715-729)AACAGTTCCTGCATGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577554_7577564delTGCAGGAACTG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.717_727delCAGTTCCTGCA	17.37:g.7577554_7577564delTGCAGGAACTG	ENSP00000269305:p.Ser240fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.N239fs|TP53_uc002gih.2_Frame_Shift_Del_p.N239fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N107fs|TP53_uc010cng.1_Frame_Shift_Del_p.N107fs|TP53_uc002gii.1_Frame_Shift_Del_p.N107fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N239fs|TP53_uc010cni.1_Frame_Shift_Del_p.N239fs|TP53_uc002gij.2_Frame_Shift_Del_p.N239fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.N146fs|TP53_uc002gio.2_Frame_Shift_Del_p.N107fs	p.N239fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	911_921	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239_243		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.717_727delCAGTTCCTGCA	CCDS11118.1																																																																																				0.583	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	78	NA	NA	NA	NA	10	78	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171853218	171853224	+	Frame_Shift_Del	DEL	AATATTG	AATATTG	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:171853218_171853224delAATATTG	ENST00000431350.2	-	20	2467_2473	c.2063_2069delCAATATT	c.(2062-2070)acaatattafs	p.TIL688fs	TLK1_ENST00000360843.3_Frame_Shift_Del_p.TIL709fs|TLK1_ENST00000442919.2_Frame_Shift_Del_p.TIL640fs|TLK1_ENST00000521943.1_Frame_Shift_Del_p.TIL640fs|TLK1_ENST00000434911.2_Frame_Shift_Del_p.TIL592fs			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGGCTTTTAATATTGTATTTTCTTG	0.3																																						uc002ugn.2		NA																	0				central_nervous_system(1)	1						c.(2062-2070)ACAATATTAfs		tousled-like kinase 1 isoform 1																																				SO:0001589	frameshift_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171853218_171853224delAATATTG	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2063_2069delCAATATT	2.37:g.171853218_171853224delAATATTG	ENSP00000411099:p.Thr688fs					TLK1_uc002ugo.2_Frame_Shift_Del_p.T709fs|TLK1_uc002ugp.2_Frame_Shift_Del_p.T640fs|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Frame_Shift_Del_p.T592fs	p.T688fs	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			20	2535_2541	-			688_690			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Frame_Shift_Del	DEL	ENST00000431350.2	37	c.2063_2069delCAATATT	CCDS2241.1																																																																																				0.300	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		21	66	NA	NA	NA	NA	21	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457503	179457503	+	Splice_Site	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179457503delA	ENST00000591111.1	-	250	54644	c.54420delT	c.(54418-54420)ctt>ct	p.L18140fs	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.L10908fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.L10841fs|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.L10716fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.L19781fs|TTN_ENST00000342992.6_Splice_Site_p.L17213fs			Q8WZ42	TITIN_HUMAN	titin	18140					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACTCACCAAGCCTGTCTT	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51637-51639)CTTfs		titin isoform N2-A							77.0	77.0	77.0					2																	179457503		1916	4125	6041	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457503delA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54421+1T>-	2.37:g.179457503delA						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.L10908fs|TTN_uc010zfi.1_Frame_Shift_Del_p.L10841fs|TTN_uc010zfj.1_Frame_Shift_Del_p.L10716fs	p.L17213fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	51863	-			18140					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.51639delT																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Frame_Shift_Del	47	78	NA	NA	NA	NA	47	78	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-	rs373178169		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:3684491delG	ENST00000344754.4	-	4	953	c.954delC	c.(952-954)cccfs	p.P318fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.P318fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGGCTGATGGGGGGTGAGA	0.617																																						uc002wja.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(952-954)CCCfs		sialoadhesin precursor							51.0	43.0	46.0					20																	3684491		2203	4300	6503	SO:0001589	frameshift_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3684491delG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.954delC	20.37:g.3684491delG	ENSP00000341141:p.Pro318fs					SIGLEC1_uc002wiz.3_Frame_Shift_Del_p.P318fs|SIGLEC1_uc002wjc.2_Frame_Shift_Del_p.P229fs	p.P318fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			4	954	-			318			Ig-like C2-type 2.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Frame_Shift_Del	DEL	ENST00000344754.4	37	c.954delC	CCDS13060.1																																																																																				0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		9	32	NA	NA	NA	NA	9	32	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31021634	31021634	+	Frame_Shift_Del	DEL	C	C	-	rs137920574	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:31021634delC	ENST00000375687.4	+	12	2057	c.1633delC	c.(1633-1635)cgtfs	p.R545fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.R540fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	545	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTTGAAGATCGTCAGTCCTT	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1633-1635)CGTfs		additional sex combs like 1 isoform 1							86.0	95.0	92.0					20																	31021634		2203	4300	6503	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021634delC	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1633delC	20.37:g.31021634delC	ENSP00000364839:p.Arg545fs					ASXL1_uc010geb.2_Frame_Shift_Del_p.R436fs	p.R545fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2059	+			545					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1633delC	CCDS13201.1																																																																																				0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		51	113	NA	NA	NA	NA	51	113	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130883877	130883878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:130883877_130883878insC	ENST00000509018.1	-	6	562_563	c.357_358insG	c.(355-360)gagaatfs	p.N120fs	RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.N120fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.N120fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.N170fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.N120fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.N120fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.N120fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	120					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTTTGGCATTCTCTACCTGAA	0.342																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(355-360)GAGAATfs		PDZ domain-containing guanine nucleotide																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130883877_130883878insC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.358dupG	5.37:g.130883878_130883878dupC	ENSP00000421684:p.Asn120fs					RAPGEF6_uc003kvp.1_Frame_Shift_Ins_p.E169fs|RAPGEF6_uc003kvo.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc010jdi.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc010jdj.1_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc003kvr.2_Frame_Shift_Ins_p.E119fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Ins_p.E119fs	p.E119fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	6	563_564	-			119_120					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.357_358insG	CCDS34225.1																																																																																				0.342	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		13	55	NA	NA	NA	NA	13	55	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732254	144732254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144732254delC	ENST00000501748.2	+	1	301	c.212delC	c.(211-213)tccfs	p.S71fs	ZNF623_ENST00000458270.2_Frame_Shift_Del_p.S31fs|ZNF623_ENST00000526926.1_Frame_Shift_Del_p.S31fs	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	71					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGAGTTCCCCCTCTCAG	0.572																																						uc003yzd.2		NA																	0					0						c.(211-213)TCCfs		zinc finger protein 623 isoform 1							70.0	75.0	73.0					8																	144732254		2203	4300	6503	SO:0001589	frameshift_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732254delC	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.212delC	8.37:g.144732254delC	ENSP00000445979:p.Ser71fs					ZNF623_uc011lkp.1_Frame_Shift_Del_p.S31fs|ZNF623_uc003yzc.2_Frame_Shift_Del_p.S31fs	p.S71fs	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	301	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		71					A4FU80|B4DGP3|E7ENV5	Frame_Shift_Del	DEL	ENST00000501748.2	37	c.212delC	CCDS34957.1																																																																																				0.572	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		31	90	NA	NA	NA	NA	31	90	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971196	21971198	+	In_Frame_Del	DEL	CAT	CAT	-	rs201314211		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:21971196_21971198delCAT	ENST00000304494.5	-	2	430_432	c.160_162delATG	c.(160-162)atgdel	p.M54del	CDKN2A_ENST00000479692.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.D109del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.D68del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.M3del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.D68del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.M3del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	54					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCGCTGCCCATCATCATGACC	0.68		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1371	Whole gene deletion(1316)|Unknown(45)|Deletion - In frame(4)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Complex - frameshift(1)	p.0?(1112)|p.?(14)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(58)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM970252	CDKN2A	M		c.(160-162)ATGdel		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001651	inframe_deletion	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971196_21971198delCAT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.160_162delATG	9.37:g.21971202_21971204delCAT	ENSP00000307101:p.Met54del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_In_Frame_Del_p.D109del	p.M54del	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	372_374	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	54			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.160_162delATG	CCDS6510.1																																																																																				0.680	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	5	NA	NA	NA	NA	8	5	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028110	37028111	+	Frame_Shift_Ins	INS	-	-	TA	rs143115052	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028110_37028111insTA	ENST00000358047.3	+	1	1679_1680	c.1627_1628insTA	c.(1627-1629)gtafs	p.V543fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	543										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGAGAGTAGCGTATCTCATCTC	0.619																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(1627-1629)GTAfs		hypothetical protein LOC442444																																				SO:0001589	frameshift_variant	442444							g.chrX:37028110_37028111insTA	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1628_1629dupTA	X.37:g.37028111_37028112dupTA	ENSP00000367913:p.Val543fs						p.V543fs	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1641_1642	+			543					Q6ZU46	Frame_Shift_Ins	INS	ENST00000358047.3	37	c.1627_1628insTA	CCDS35227.1																																																																																				0.619	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	69	NA	NA	NA	NA	8	69	---	---	---	---
