#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
KIF1B	23095	broad.mit.edu	37	1	10386207	10386207	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:10386207C>T	ENST00000377086.1	+	27	2916	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A905V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A859V			O60333	KIF1B_HUMAN	kinesin family member 1B	905					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCGCCTTGCCGACCGCACA	0.542																																						uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2713-2715)GCC>GTC		kinesin family member 1B isoform b							159.0	154.0	156.0					1																	10386207		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386207C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2714C>T	1.37:g.10386207C>T	ENSP00000366290:p.Ala905Val					KIF1B_uc001aqw.3_Missense_Mutation_p.A859V|KIF1B_uc001aqy.2_Missense_Mutation_p.A879V|KIF1B_uc001aqz.2_Missense_Mutation_p.A905V|KIF1B_uc001ara.2_Missense_Mutation_p.A865V|KIF1B_uc001arb.2_Missense_Mutation_p.A891V	p.A905V	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	2916	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	905					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2714C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.094751	0.94197	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72942	-0.62;-0.7;-0.7	5.74	5.74	0.90152	.	0.055312	0.64402	D	0.000001	T	0.64305	0.2586	N	0.08118	0	0.80722	D	1	P;P;P;D;B;B	0.59767	0.9;0.799;0.956;0.986;0.099;0.16	B;B;P;P;B;B	0.51974	0.394;0.272;0.516;0.686;0.017;0.037	T	0.66720	-0.5852	10	0.33940	T	0.23	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	891;865;905;879;905;859	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	905;859;905;905	ENSP00000263934:A859V;ENSP00000366290:A905V;ENSP00000366284:A905V	ENSP00000263934:A859V	A	+	2	0	KIF1B	10308794	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	5.717000	0.68446	2.720000	0.93068	0.650000	0.86243	GCC		0.542	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			5	244	0	0	0	0	5	244				
CELA3B	23436	broad.mit.edu	37	1	22304901	22304901	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:22304901G>T	ENST00000337107.6	+	2	102	c.83G>T	c.(82-84)cGc>cTc	p.R28L	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	28					cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTTCCAGCCGCGTTGTCAAT	0.612																																						uc001bfk.2		NA																	0				ovary(1)	1						c.(82-84)CGC>CTC		elastase 3B, pancreatic preproprotein							166.0	103.0	124.0					1																	22304901		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22304901G>T	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.83G>T	1.37:g.22304901G>T	ENSP00000338369:p.Arg28Leu					CELA3B_uc009vqf.2_Missense_Mutation_p.R27L	p.R28L	NM_007352	NP_031378	P08861	CEL3B_HUMAN			2	198	+			28					B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.83G>T	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.009321	0.97200	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	T;T	0.21361	2.01;2.01	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.80183	2.485	0.38862	D	0.95649	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.58387	-0.7645	10	0.87932	D	0	-47.2794	16.0019	0.80301	0.0:0.0:1.0:0.0	.	28;28	B1AQ52;P08861	.;CEL3B_HUMAN	L	28;44	ENSP00000338369:R28L;ENSP00000363798:R44L	ENSP00000338369:R28L	R	+	2	0	CELA3B	22177488	0.998000	0.40836	0.262000	0.24481	0.821000	0.46438	8.940000	0.92958	2.375000	0.81037	0.650000	0.86243	CGC		0.612	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		42	23	1	0	6.27e-28	8.63e-28	42	23				
CELA3B	23436	broad.mit.edu	37	1	22307604	22307604	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:22307604C>A	ENST00000337107.6	+	4	320	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	101	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCAGGTGATCCCCATCAACTC	0.632											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bfk.2		NA																	0				ovary(1)	1						c.(301-303)CCC>ACC		elastase 3B, pancreatic preproprotein							132.0	117.0	122.0					1																	22307604		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22307604C>A	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.301C>A	1.37:g.22307604C>A	ENSP00000338369:p.Pro101Thr		OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3B_uc009vqf.2_Intron	p.P101T	NM_007352	NP_031378	P08861	CEL3B_HUMAN			4	416	+			101			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.301C>A	CCDS219.1	.	.	.	.	.	.	.	.	.	.	C	9.811	1.183201	0.21870	.	.	ENSG00000219073	ENST00000337107;ENST00000374666;ENST00000400277	D;D;D	0.89123	-2.32;-2.32;-2.47	4.89	4.89	0.63831	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.613424	0.16587	N	0.207955	T	0.77824	0.4188	N	0.04203	-0.255	0.37916	D	0.931534	B	0.02656	0.0	B	0.13407	0.009	T	0.73544	-0.3949	10	0.27082	T	0.32	-12.5992	15.8905	0.79293	0.0:1.0:0.0:0.0	.	101	P08861	CEL3B_HUMAN	T	101;117;4	ENSP00000338369:P101T;ENSP00000363798:P117T;ENSP00000383135:P4T	ENSP00000338369:P101T	P	+	1	0	CELA3B	22180191	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	2.568000	0.45965	2.413000	0.81919	0.650000	0.86243	CCC		0.632	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		64	28	1	0	2.17e-29	3e-29	64	28				
KIAA1522	57648	broad.mit.edu	37	1	33237516	33237516	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:33237516G>A	ENST00000373480.1	+	6	2662	c.2559G>A	c.(2557-2559)ctG>ctA	p.L853L	KIAA1522_ENST00000401073.2_Silent_p.L912L|KIAA1522_ENST00000373481.3_Silent_p.L864L|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	853	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)				AGAAACCACTGCGAAGGGCCC	0.716																																						uc001bvv.2		NA																	0					0						c.(2557-2559)CTG>CTA		hypothetical protein LOC57648							7.0	9.0	9.0					1																	33237516		1790	3968	5758	SO:0001819	synonymous_variant	57648							g.chr1:33237516G>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.2559G>A	1.37:g.33237516G>A						KIAA1522_uc001bvu.1_Silent_p.L912L|KIAA1522_uc010ohm.1_Silent_p.L864L|KIAA1522_uc010ohn.1_Intron	p.L853L	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2695	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	853			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2559G>A	CCDS55588.1																																																																																				0.716	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			12	17	0	0	0	0	12	17				
ZMYM1	79830	broad.mit.edu	37	1	35578906	35578906	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:35578906G>A	ENST00000373330.1	+	11	1649	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R492K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	492						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCTGTGGAAGAGAGTCATTT	0.348																																						uc001bym.2		NA																	0					0						c.(1474-1476)AGA>AAA		zinc finger, MYM domain containing 1							53.0	54.0	53.0					1																	35578906		1807	4075	5882	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35578906G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1475G>A	1.37:g.35578906G>A	ENSP00000362427:p.Arg492Lys					ZMYM1_uc001byn.2_Missense_Mutation_p.R492K|ZMYM1_uc010ohu.1_Missense_Mutation_p.R473K|ZMYM1_uc001byo.2_Missense_Mutation_p.R132K|ZMYM1_uc009vut.2_Missense_Mutation_p.R417K	p.R492K	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	1623	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	492			TTF-type.		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.1475G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	4.451	0.083465	0.08533	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.15372	2.69;2.43;2.69	4.7	2.84	0.33178	Zinc finger, TTF-type (1);	0.603968	0.15013	N	0.285480	T	0.10165	0.0249	N	0.24115	0.695	0.23994	N	0.996233	B;B	0.27791	0.189;0.0	B;B	0.26770	0.073;0.001	T	0.30765	-0.9967	9	.	.	.	-0.5433	7.168	0.25702	0.1965:0.0:0.8035:0.0	.	473;492	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	K	492;417;492	ENSP00000352920:R492K;ENSP00000362426:R417K;ENSP00000362427:R492K	.	R	+	2	0	ZMYM1	35351493	0.991000	0.36638	0.662000	0.29724	0.197000	0.23852	2.590000	0.46154	0.917000	0.36895	-0.229000	0.12294	AGA		0.348	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		57	107	0	0	0	0	57	107				
ERMAP	114625	broad.mit.edu	37	1	43308691	43308691	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:43308691A>G	ENST00000372517.2	+	12	1460	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.T316A|ERMAP_ENST00000372514.3_Missense_Mutation_p.T406A|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000444563.1_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	406	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAAAAAACACAGCACCTCT	0.463																																						uc001cic.1		NA																	0				ovary(1)	1						c.(1216-1218)ACA>GCA		erythroblast membrane-associated protein							124.0	131.0	128.0					1																	43308691		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43308691A>G	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1216A>G	1.37:g.43308691A>G	ENSP00000361595:p.Thr406Ala					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.T406A|ERMAP_uc001cif.1_Missense_Mutation_p.T316A	p.T406A	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			12	1486	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	406		Missing (in Sc-3 allele).	Cytoplasmic (Potential).|B30.2/SPRY.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.1216A>G	CCDS475.1	.	.	.	.	.	.	.	.	.	.	A	8.091	0.774604	0.16051	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.60424	0.19;0.19;0.19	5.34	1.68	0.24146	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.754711	0.12589	N	0.455787	T	0.17789	0.0427	N	0.00525	-1.395	0.09310	N	0.999998	B	0.10296	0.003	B	0.09377	0.004	T	0.30149	-0.9988	10	0.07482	T	0.82	.	4.2452	0.10669	0.6651:0.0:0.1811:0.1537	.	406	Q96PL5	ERMAP_HUMAN	A	406;406;316	ENSP00000361595:T406A;ENSP00000361592:T406A;ENSP00000332439:T316A	ENSP00000332439:T316A	T	+	1	0	ERMAP	43081278	0.001000	0.12720	0.545000	0.28153	0.987000	0.75469	0.147000	0.16202	0.466000	0.27193	0.533000	0.62120	ACA		0.463	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		62	115	0	0	0	0	62	115				
HECTD3	79654	broad.mit.edu	37	1	45472642	45472642	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:45472642T>A	ENST00000372172.4	-	12	1673	c.1602A>T	c.(1600-1602)gcA>gcT	p.A534A	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Silent_p.A144A	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	534	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGATGCCTTCTGCAATAAATT	0.507																																						uc009vxk.2		NA																	0					0						c.(1600-1602)GCA>GCT		HECT domain containing 3							64.0	63.0	63.0					1																	45472642		1968	4165	6133	SO:0001819	synonymous_variant	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472642T>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1602A>T	1.37:g.45472642T>A						HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Silent_p.A144A|HECTD3_uc010olh.1_Silent_p.A250A	p.A534A	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			12	1700	-	Acute lymphoblastic leukemia(166;0.155)		534			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	c.1602A>T	CCDS41318.1																																																																																				0.507	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		34	53	0	0	0	0	34	53				
CYP4A11	1579	broad.mit.edu	37	1	47407066	47407066	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47407066C>A	ENST00000310638.4	-	1	71	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	CYP4A11_ENST00000371905.1_Missense_Mutation_p.D14Y|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D14Y|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.D14Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	14					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CCAGAGACATCACCCAGGAGT	0.597																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(40-42)GAT>TAT		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						95.0	94.0	95.0					1																	47407066		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47407066C>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.40G>T	1.37:g.47407066C>A	ENSP00000311095:p.Asp14Tyr					CYP4A11_uc001cqq.2_Missense_Mutation_p.D14Y|CYP4A11_uc010omm.1_RNA	p.D14Y	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			1	91	-			14					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.40G>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	10.56	1.384474	0.25031	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.71103	-0.54;-0.48;-0.44	4.39	-0.95	0.10372	.	2.282810	0.01626	N	0.023299	T	0.52964	0.1767	N	0.08118	0	0.09310	N	0.999999	P	0.35714	0.517	B	0.38921	0.285	T	0.46735	-0.9170	10	0.23891	T	0.37	.	8.5166	0.33250	0.0:0.6331:0.0:0.3669	.	14	Q02928	CP4AB_HUMAN	Y	14	ENSP00000311095:D14Y;ENSP00000360971:D14Y;ENSP00000360972:D14Y	ENSP00000311095:D14Y	D	-	1	0	CYP4A11	47179653	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.634000	0.02020	-0.009000	0.14296	0.549000	0.68633	GAT		0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		68	123	1	0	2.43e-22	3.2e-22	68	123				
CYP4A22	284541	broad.mit.edu	37	1	47609432	47609432	+	Splice_Site	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47609432A>C	ENST00000371891.3	+	6	666		c.e6-1		CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTCCCTCAGGAATTCTCA	0.512																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.e6-2		cytochrome P450, family 4, subfamily A,							97.0	91.0	93.0					1																	47609432		2203	4300	6503	SO:0001630	splice_region_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47609432A>C		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.636-1A>C	1.37:g.47609432A>C						CYP4A22_uc009vyo.2_Splice_Site_p.R212_splice|CYP4A22_uc009vyp.2_Intron	p.R212_splice	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			6	687	+								Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Splice_Site	SNP	ENST00000371891.3	37	c.636_splice	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	A	6.485	0.457662	0.12342	.	.	ENSG00000162365	ENST00000371891;ENST00000294337	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.42803	D	0.993931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.43	0.32753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4A22	47382019	0.998000	0.40836	0.076000	0.20297	0.014000	0.08584	5.285000	0.65633	0.793000	0.33875	0.172000	0.16884	.		0.512	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	Intron	52	73	0	0	0	0	52	73				
ELAVL4	1996	broad.mit.edu	37	1	50659494	50659494	+	Missense_Mutation	SNP	G	G	A	rs199932597		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:50659494G>A	ENST00000371823.4	+	4	636	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	ELAVL4_ENST00000371819.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G138S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371824.1_Missense_Mutation_p.G138S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G141S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G155S	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTATGTTAGCGGCCTTCCCAA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20287	0.0		0.0	False		,,,				2504	0.0					uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(412-414)GGC>AGC		ELAV-like 4 isoform 1							171.0	152.0	159.0					1																	50659494		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50659494G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.412G>A	1.37:g.50659494G>A	ENSP00000360888:p.Gly138Ser					ELAVL4_uc001cry.3_Missense_Mutation_p.G141S|ELAVL4_uc001crz.3_Missense_Mutation_p.G138S|ELAVL4_uc001csa.3_Missense_Mutation_p.G155S|ELAVL4_uc001csc.3_Missense_Mutation_p.G138S|ELAVL4_uc009vyu.2_Missense_Mutation_p.G143S|ELAVL4_uc010omz.1_Missense_Mutation_p.G143S	p.G138S	NM_021952	NP_068771	P26378	ELAV4_HUMAN			4	680	+			138			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.412G>A	CCDS553.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	31	5.099724	0.94197	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	L	0.50993	1.605	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.996;0.998;0.99;0.996;0.994;0.99;0.996	D;D;P;D;P;P;D	0.68483	0.911;0.958;0.741;0.911;0.856;0.801;0.911	T	0.00012	-1.2424	10	0.66056	D	0.02	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	143;143;138;138;155;138;141	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	S	141;138;155;138;138;143;143	ENSP00000399939:G141S;ENSP00000360892:G138S;ENSP00000349594:G155S;ENSP00000360889:G138S;ENSP00000360888:G138S;ENSP00000360886:G143S;ENSP00000360884:G143S	ENSP00000349594:G155S	G	+	1	0	ELAVL4	50432081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	GGC		0.488	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		105	140	0	0	0	0	105	140				
C8B	732	broad.mit.edu	37	1	57425761	57425761	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:57425761T>A	ENST00000371237.4	-	2	247	c.181A>T	c.(181-183)Atg>Ttg	p.M61L	C8B_ENST00000543257.1_Missense_Mutation_p.M9L|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	61					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCAATGGGCATCAGGGTAACA	0.488																																						uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(181-183)ATG>TTG		complement component 8, beta polypeptide							171.0	140.0	150.0					1																	57425761		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425761T>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.181A>T	1.37:g.57425761T>A	ENSP00000360281:p.Met61Leu					C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.M9L	p.M61L	NM_000066	NP_000057	P07358	CO8B_HUMAN			2	248	-			61					A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.181A>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780479	0.31502	.	.	ENSG00000021852	ENST00000371237;ENST00000543257	T;T	0.22336	1.96;1.97	4.92	-3.4	0.04853	.	0.666605	0.16452	N	0.213795	T	0.04137	0.0115	N	0.00778	-1.195	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32534	-0.9903	10	0.26408	T	0.33	-1.2031	2.6556	0.05011	0.1279:0.2951:0.3913:0.1857	.	9;61	F5H7G1;P07358	.;CO8B_HUMAN	L	61;9	ENSP00000360281:M61L;ENSP00000442548:M9L	ENSP00000360281:M61L	M	-	1	0	C8B	57198349	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-0.351000	0.07711	-0.468000	0.06922	0.460000	0.39030	ATG		0.488	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			58	83	0	0	0	0	58	83				
PGM1	5236	broad.mit.edu	37	1	64117492	64117492	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:64117492A>T	ENST00000371084.3	+	9	1646	c.1433A>T	c.(1432-1434)gAc>gTc	p.D478V	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Missense_Mutation_p.D281V|PGM1_ENST00000371083.4_Missense_Mutation_p.D496V	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	478					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GAATACAGCGACCCAGTGGAT	0.463																																						uc001dbh.2		NA																	0				ovary(2)|kidney(1)	3						c.(1432-1434)GAC>GTC		phosphoglucomutase 1							110.0	107.0	108.0					1																	64117492		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64117492A>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1433A>T	1.37:g.64117492A>T	ENSP00000360125:p.Asp478Val					PGM1_uc010ooy.1_Missense_Mutation_p.D281V|PGM1_uc010ooz.1_Missense_Mutation_p.D496V	p.D478V	NM_002633	NP_002624	P36871	PGM1_HUMAN			9	1646	+			478					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.1433A>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942612	0.73672	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.51817	0.69;0.69;0.69	5.69	5.69	0.88448	Alpha-D-phosphohexomutase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.85675	0.1297	10	0.72032	D	0.01	-31.1632	16.2484	0.82467	1.0:0.0:0.0:0.0	.	496;478	P36871-2;P36871	.;PGM1_HUMAN	V	454;478;281;496	ENSP00000360125:D478V;ENSP00000443449:D281V;ENSP00000360124:D496V	ENSP00000360124:D496V	D	+	2	0	PGM1	63890080	1.000000	0.71417	0.996000	0.52242	0.451000	0.32288	9.287000	0.95975	2.291000	0.77112	0.533000	0.62120	GAC		0.463	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		21	53	0	0	0	0	21	53				
SGIP1	84251	broad.mit.edu	37	1	67155877	67155877	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:67155877G>T	ENST00000371037.4	+	17	1525	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	SGIP1_ENST00000371035.3_Missense_Mutation_p.R273I|SGIP1_ENST00000237247.6_Missense_Mutation_p.R514I|SGIP1_ENST00000371039.1_Missense_Mutation_p.R284I|SGIP1_ENST00000371036.3_Missense_Mutation_p.R283I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	483	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTACAGTCCAGACCTTTTAGC	0.443																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(1447-1449)AGA>ATA		SH3-domain GRB2-like (endophilin) interacting							178.0	169.0	172.0					1																	67155877		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155877G>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1448G>T	1.37:g.67155877G>T	ENSP00000360076:p.Arg483Ile					SGIP1_uc010opd.1_Missense_Mutation_p.R83I|SGIP1_uc001dcs.2_Missense_Mutation_p.R83I|SGIP1_uc001dct.2_Missense_Mutation_p.R83I|SGIP1_uc009wat.2_Missense_Mutation_p.R277I	p.R483I	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			17	1665	+			483			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1448G>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174865	0.94807	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.71674	0.998;0.99;0.99;0.998	D;D;D;D	0.78314	0.991;0.962;0.962;0.991	T	0.00888	-1.1526	10	0.45353	T	0.12	-21.4961	20.5792	0.99380	0.0:0.0:1.0:0.0	.	513;83;273;483	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	I	514;284;273;513;486;283;483	ENSP00000237247:R514I;ENSP00000360078:R284I;ENSP00000360074:R273I;ENSP00000360075:R283I;ENSP00000360076:R483I	ENSP00000237247:R514I	R	+	2	0	SGIP1	66928465	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.873000	0.98535	0.561000	0.74099	AGA		0.443	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		87	167	1	0	1.29e-55	1.95e-55	87	167				
ERICH3	127254	broad.mit.edu	37	1	75037355	75037355	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:75037355C>A	ENST00000326665.5	-	14	4257	c.4039G>T	c.(4039-4041)Ggt>Tgt	p.G1347C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1347	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCGTTTCACCACCTCCGTGT	0.537																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4039-4041)GGT>TGT		hypothetical protein LOC127254							196.0	190.0	192.0					1																	75037355		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037355C>A																												ENST00000326665.5:c.4039G>T	1.37:g.75037355C>A	ENSP00000322609:p.Gly1347Cys						p.G1347C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4258	-			1347			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4039G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627856	0.28978	.	.	ENSG00000178965	ENST00000326665	T	0.18502	2.21	3.12	1.0	0.19881	.	.	.	.	.	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	P	0.49447	0.924	P	0.46585	0.521	T	0.25222	-1.0138	9	0.56958	D	0.05	0.4104	5.8578	0.18730	0.0:0.6162:0.1628:0.221	.	1347	Q5RHP9	CA173_HUMAN	C	1347	ENSP00000322609:G1347C	ENSP00000322609:G1347C	G	-	1	0	C1orf173	74809943	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.435000	0.21510	-0.167000	0.10871	-1.134000	0.01955	GGT		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			44	66	1	0	2.14e-21	2.78e-21	44	66				
LPHN2	23266	broad.mit.edu	37	1	82409022	82409022	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82409022A>G	ENST00000370728.1	+	8	1412	c.767A>G	c.(766-768)tAc>tGc	p.Y256C	LPHN2_ENST00000370725.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y256C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y256C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y260C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y256C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y256C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y256C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y256C			O95490	LPHN2_HUMAN	latrophilin 2	256	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCTCACCATACAGATGGGGA	0.393																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(766-768)TAC>TGC		latrophilin 2 precursor							129.0	125.0	126.0					1																	82409022		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409022A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.767A>G	1.37:g.82409022A>G	ENSP00000359763:p.Tyr256Cys					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.Y256C|LPHN2_uc001div.2_Missense_Mutation_p.Y256C|LPHN2_uc009wcd.2_Missense_Mutation_p.Y256C	p.Y256C	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	948	+			256			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.767A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.28|14.28	2.487989|2.487989	0.44249|0.44249	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.92805	.|-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.52|5.52	4.37|4.37	0.52481|0.52481	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95601|0.95601	0.8570|0.8570	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.991;0.996	D|D	0.95890|0.95890	0.8906|0.8906	5|10	.|0.87932	.|D	.|0	.|.	11.818|11.818	0.52222|0.52222	0.8685:0.0:0.0:0.1315|0.8685:0.0:0.0:0.1315	.|.	.|256;256;256	.|O95490-3;O95490-4;O95490-2	.|.;.;.	A|C	124|260;256;256;256;256;256;256;256;256;256;256;256;256;256	.|ENSP00000359756:Y260C;ENSP00000359763:Y256C;ENSP00000359765:Y256C;ENSP00000359762:Y256C;ENSP00000359760:Y256C;ENSP00000359758:Y256C;ENSP00000353006:Y256C;ENSP00000359750:Y256C;ENSP00000359748:Y256C;ENSP00000322270:Y256C;ENSP00000359752:Y256C;ENSP00000378344:Y256C;ENSP00000271029:Y256C;ENSP00000337306:Y256C	.|ENSP00000271029:Y256C	T|Y	+|+	1|2	0|0	LPHN2|LPHN2	82181610|82181610	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.775000|0.775000	0.43874|0.43874	8.962000|8.962000	0.93254|0.93254	0.903000|0.903000	0.36546|0.36546	0.374000|0.374000	0.22700|0.22700	ACA|TAC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		60	88	0	0	0	0	60	88				
LPHN2	23266	broad.mit.edu	37	1	82445578	82445578	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82445578C>A	ENST00000370728.1	+	20	3680	c.3035C>A	c.(3034-3036)aCa>aAa	p.T1012K	LPHN2_ENST00000370725.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370723.1_Missense_Mutation_p.T999K|LPHN2_ENST00000319517.6_Missense_Mutation_p.T999K|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1012K|LPHN2_ENST00000370715.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370721.1_Missense_Mutation_p.T937K|LPHN2_ENST00000359929.3_Missense_Mutation_p.T999K|LPHN2_ENST00000370713.1_Missense_Mutation_p.T999K|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1012K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T999K|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1012K|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1012K			O95490	LPHN2_HUMAN	latrophilin 2	1012					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)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGGTGATCACATTGTGCAAA	0.299																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2995-2997)ACA>AAA		latrophilin 2 precursor							89.0	87.0	88.0					1																	82445578		2203	4294	6497	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82445578C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3035C>A	1.37:g.82445578C>A	ENSP00000359763:p.Thr1012Lys					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.T999K|LPHN2_uc001div.2_Missense_Mutation_p.T999K|LPHN2_uc009wcd.2_Missense_Mutation_p.T999K|LPHN2_uc001diw.2_Missense_Mutation_p.T583K|LPHN2_uc009wce.1_Missense_Mutation_p.T85K	p.T999K	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	17	3177	+			1012			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2996C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.1|20.1|20.1	3.936217|3.936217|3.936217	0.73442|0.73442|0.73442	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.38240	.|.|1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.98|5.98|5.98	5.98|5.98|5.98	0.97165|0.97165|0.97165	.|.|GPCR, family 2-like (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.65852|0.65852|0.65852	0.2731|0.2731|0.2731	M|M|M	0.90483|0.90483|0.90483	3.12|3.12|3.12	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D;D;D	.|.|0.89917	.|.|0.788;0.999;1.0;1.0	.|.|D;D;D;D	.|.|0.97110	.|.|0.929;0.99;0.996;1.0	T|T|T	0.71471|0.71471|0.71471	-0.4583|-0.4583|-0.4583	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	20.452|20.452|20.452	0.99131|0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1012;999;999;999	.|.|O95490;O95490-3;O95490-4;O95490-2	.|.|LPHN2_HUMAN;.;.;.	N|Q|K	880|2|937;1012;1012;1012;1012;999;999;999;999;999;1012;999;1012;1012	.|.|ENSP00000359756:T937K;ENSP00000359763:T1012K;ENSP00000359765:T1012K;ENSP00000359762:T1012K;ENSP00000359760:T1012K;ENSP00000359758:T999K;ENSP00000353006:T999K;ENSP00000359750:T999K;ENSP00000359748:T999K;ENSP00000322270:T999K;ENSP00000359752:T1012K;ENSP00000378344:T999K;ENSP00000271029:T1012K;ENSP00000337306:T1012K	.|.|ENSP00000271029:T1012K	H|H|T	+|+|+	1|3|2	0|2|0	LPHN2|LPHN2|LPHN2	82218166|82218166|82218166	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.189000|0.189000|0.189000	0.23516|0.23516|0.23516	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.838000|2.838000|2.838000	0.97847|0.97847|0.97847	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	CAT|CAC|ACA		0.299	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		31	62	1	0	2.05e-20	2.64e-20	31	62				
PLPPR5	163404	broad.mit.edu	37	1	99387542	99387542	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:99387542A>C	ENST00000263177.4	-	4	915	c.694T>G	c.(694-696)Tgt>Ggt	p.C232G	LPPR5_ENST00000370188.3_Missense_Mutation_p.C232G	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		232						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AATGCCAAACACATTAAGCCC	0.378																																						uc001dsb.2		NA																	0					0						c.(694-696)TGT>GGT		phosphatidic acid phosphatase type 2d isoform 1							135.0	128.0	130.0					1																	99387542		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99387542A>C																												ENST00000263177.4:c.694T>G	1.37:g.99387542A>C	ENSP00000263177:p.Cys232Gly					LPPR5_uc001dsc.2_Missense_Mutation_p.C232G	p.C232G	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			4	916	-			232			Helical; (Potential).		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.694T>G	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367891	0.42003	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.73258	-0.73;-0.73	5.4	4.25	0.50352	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.089862	0.85682	N	0.000000	T	0.41351	0.1155	N	0.20881	0.62	0.54753	D	0.999985	B;B	0.24483	0.044;0.104	B;B	0.28465	0.03;0.09	T	0.35151	-0.9800	10	0.39692	T	0.17	.	11.6837	0.51472	0.8515:0.1485:0.0:0.0	.	232;232	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	G	232	ENSP00000359207:C232G;ENSP00000263177:C232G	ENSP00000263177:C232G	C	-	1	0	AL161744.1	99160130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	0.857000	0.35407	0.377000	0.23210	TGT		0.378	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			67	77	0	0	0	0	67	77				
COL11A1	1301	broad.mit.edu	37	1	103496734	103496734	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496734T>C	ENST00000370096.3	-	5	1030	c.718A>G	c.(718-720)Agt>Ggt	p.S240G	COL11A1_ENST00000512756.1_Missense_Mutation_p.S240G|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240G|COL11A1_ENST00000358392.2_Missense_Mutation_p.S240G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTCTGGACTATAATGCTCA	0.448																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(718-720)AGT>GGT		alpha 1 type XI collagen isoform A							108.0	96.0	100.0					1																	103496734		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496734T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.718A>G	1.37:g.103496734T>C	ENSP00000359114:p.Ser240Gly					COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.S240G|COL11A1_uc001dun.2_Missense_Mutation_p.S240G|COL11A1_uc009weh.2_Missense_Mutation_p.S240G	p.S240G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	240			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.718A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143114	0.57044	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;T	0.89050	-2.4;-2.4;-2.44;-2.46;-2.09;3.21	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.181870	0.64402	D	0.000018	D	0.83298	0.5224	M	0.80746	2.51	0.49389	D	0.999789	B;B;P;B	0.40794	0.155;0.361;0.729;0.247	B;B;B;B	0.32805	0.05;0.109;0.153;0.05	D	0.84261	0.0483	10	0.30854	T	0.27	.	15.7618	0.78087	0.0:0.0:0.0:1.0	.	240;240;240;240	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	240;240;240;240;240;167	ENSP00000359114:S240G;ENSP00000351163:S240G;ENSP00000302551:S240G;ENSP00000426533:S240G;ENSP00000408640:S240G;ENSP00000410177:S167G	ENSP00000302551:S240G	S	-	1	0	COL11A1	103269322	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	7.579000	0.82511	2.125000	0.65367	0.450000	0.29827	AGT		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		22	38	0	0	0	0	22	38				
COL11A1	1301	broad.mit.edu	37	1	103496752	103496752	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496752C>T	ENST00000370096.3	-	5	1012	c.700G>A	c.(700-702)Gac>Aac	p.D234N	COL11A1_ENST00000512756.1_Missense_Mutation_p.D234N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D234N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D234N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	234	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACAGTAGTCATATGCTGCC	0.443																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(700-702)GAC>AAC		alpha 1 type XI collagen isoform A							107.0	94.0	99.0					1																	103496752		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496752C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.700G>A	1.37:g.103496752C>T	ENSP00000359114:p.Asp234Asn					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D234N|COL11A1_uc001dun.2_Missense_Mutation_p.D234N|COL11A1_uc009weh.2_Missense_Mutation_p.D234N	p.D234N	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1018	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	234			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.700G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227932	0.79576	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.050719	0.85682	D	0.000000	T	0.02304	0.0071	M	0.65498	2.005	0.58432	D	0.999998	B;B;B;B	0.29115	0.005;0.04;0.233;0.064	B;B;B;B	0.22753	0.005;0.016;0.041;0.007	T	0.42447	-0.9451	10	0.66056	D	0.02	.	19.5892	0.95501	0.0:1.0:0.0:0.0	.	234;234;234;234	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	234;234;234;234;234;161	ENSP00000359114:D234N;ENSP00000351163:D234N;ENSP00000302551:D234N;ENSP00000426533:D234N;ENSP00000408640:D234N;ENSP00000410177:D161N	ENSP00000302551:D234N	D	-	1	0	COL11A1	103269340	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.632000	0.67819	2.631000	0.89168	0.551000	0.68910	GAC		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		21	41	0	0	0	0	21	41				
COL11A1	1301	broad.mit.edu	37	1	103548502	103548502	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103548502G>A	ENST00000370096.3	-	2	445	c.133C>T	c.(133-135)Cta>Tta	p.L45L	COL11A1_ENST00000512756.1_Silent_p.L45L|COL11A1_ENST00000353414.4_Silent_p.L45L|COL11A1_ENST00000358392.2_Silent_p.L45L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	45					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAAAATCTAGTGCTTTTAGT	0.333																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(133-135)CTA>TTA		alpha 1 type XI collagen isoform A							92.0	93.0	92.0					1																	103548502		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548502G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.133C>T	1.37:g.103548502G>A						COL11A1_uc001dum.2_Silent_p.L45L|COL11A1_uc001dun.2_Silent_p.L45L|COL11A1_uc009weh.2_Silent_p.L45L	p.L45L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	451	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	45			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.133C>T	CCDS778.1																																																																																				0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		51	87	0	0	0	0	51	87				
ATXN7L2	127002	broad.mit.edu	37	1	110032945	110032945	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:110032945G>A	ENST00000369870.3	+	9	1304	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	430										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGTTTAGCCGCCGGCTGGAC	0.577											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dxr.2		NA																	0				ovary(2)	2						c.(1288-1290)CGC>CAC		ataxin 7-like 2							86.0	79.0	81.0					1																	110032945		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110032945G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1289G>A	1.37:g.110032945G>A	ENSP00000358886:p.Arg430His		OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424	ATXN7L2_uc001dxs.2_Missense_Mutation_p.R57H|ATXN7L2_uc001dxt.2_5'Flank	p.R430H	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1304	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	430						Missense_Mutation	SNP	ENST00000369870.3	37	c.1289G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695859	0.88830	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.45276	0.9	5.97	5.97	0.96955	.	0.091081	0.46145	N	0.000318	T	0.60663	0.2286	M	0.73598	2.24	0.51767	D	0.999933	D	0.89917	1.0	D	0.83275	0.996	T	0.62637	-0.6812	10	0.87932	D	0	-19.8015	17.3447	0.87307	0.0:0.0:1.0:0.0	.	430	Q5T6C5	AT7L2_HUMAN	H	430;430;57	ENSP00000358886:R430H	ENSP00000358885:R57H	R	+	2	0	ATXN7L2	109834468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.606000	0.67641	2.837000	0.97791	0.655000	0.94253	CGC		0.577	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		62	72	0	0	0	0	62	72				
LRIG2	9860	broad.mit.edu	37	1	113652911	113652911	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:113652911G>T	ENST00000361127.5	+	13	1723	c.1525G>T	c.(1525-1527)Gct>Tct	p.A509S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	509	Ig-like C2-type 1.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACCATAATTGCTCTAAGAGG	0.428																																						uc001edf.1		NA																	0				ovary(3)	3						c.(1525-1527)GCT>TCT		leucine-rich repeats and immunoglobulin-like							129.0	117.0	121.0					1																	113652911		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113652911G>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1525G>T	1.37:g.113652911G>T	ENSP00000355396:p.Ala509Ser					LRIG2_uc009wgn.1_Missense_Mutation_p.A406S	p.A509S	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	13	1723	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	509			Ig-like C2-type 1.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1525G>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.854570	0.91355	.	.	ENSG00000198799	ENST00000361127	T	0.13778	2.56	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129584	0.56097	D	0.000036	T	0.18923	0.0454	L	0.48174	1.505	0.80722	D	1	B	0.28082	0.2	P	0.46850	0.529	T	0.06881	-1.0802	10	0.46703	T	0.11	.	19.9616	0.97254	0.0:0.0:1.0:0.0	.	509	O94898	LRIG2_HUMAN	S	509	ENSP00000355396:A509S	ENSP00000355396:A509S	A	+	1	0	LRIG2	113454434	1.000000	0.71417	0.912000	0.35992	0.751000	0.42716	7.945000	0.87732	2.724000	0.93272	0.561000	0.74099	GCT		0.428	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		63	110	1	0	3.13e-38	4.52e-38	63	110				
AMPD1	270	broad.mit.edu	37	1	115231345	115231345	+	Missense_Mutation	SNP	G	G	T	rs369335745		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:115231345G>T	ENST00000520113.2	-	3	166	c.151C>A	c.(151-153)Cgc>Agc	p.R51S	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18S|AMPD1_ENST00000369538.3_Missense_Mutation_p.R47S			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	51					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCAAAGTTGCGCATTGCATCA	0.423																																						uc001efe.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(52-54)CGC>AGC		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						128.0	125.0	126.0					1																	115231345		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231345G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.151C>A	1.37:g.115231345G>T	ENSP00000430075:p.Arg51Ser					AMPD1_uc001eff.1_Missense_Mutation_p.R14S	p.R18S	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	136	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	18					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.52C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928354	0.52759	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.55234	0.53;0.53;0.53	5.5	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.42245	1.32	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	P;P	0.59703	0.852;0.862	T	0.58200	-0.7678	10	0.87932	D	0	-14.4529	16.2726	0.82628	0.0:0.0:0.8673:0.1327	.	47;18	Q5TF02;P23109	.;AMPD1_HUMAN	S	51;47;18	ENSP00000430075:R51S;ENSP00000358551:R47S;ENSP00000316520:R18S	ENSP00000316520:R18S	R	-	1	0	AMPD1	115032868	1.000000	0.71417	0.391000	0.26233	0.101000	0.19017	4.846000	0.62860	2.744000	0.94065	0.655000	0.94253	CGC		0.423	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			68	138	1	0	4.66e-34	6.62e-34	68	138				
FLG	2312	broad.mit.edu	37	1	152280766	152280766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:152280766G>T	ENST00000368799.1	-	3	6631	c.6596C>A	c.(6595-6597)tCa>tAa	p.S2199*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2199	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCCTT	0.542									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6595-6597)TCA>TAA		filaggrin							459.0	395.0	417.0					1																	152280766		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280766G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6596C>A	1.37:g.152280766G>T	ENSP00000357789:p.Ser2199*						p.S2199*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6632	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2199			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.6596C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	44	10.606511	0.99436	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.46	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4587	0.32915	0.0:0.0:1.0:0.0	.	.	.	.	X	2199	.	ENSP00000357789:S2199X	S	-	2	0	FLG	150547390	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.122000	0.10627	1.399000	0.46721	0.485000	0.47835	TCA		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		298	419	1	0	1.64e-181	2.53e-181	298	419				
OR10K2	391107	broad.mit.edu	37	1	158389859	158389859	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:158389859G>A	ENST00000314902.2	-	1	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	266						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGCTTGAGGAGTAGTTGGACT	0.398																																						uc010pii.1		NA																	0				pancreas(1)	1						c.(796-798)TAC>TAT		olfactory receptor, family 10, subfamily K,							111.0	110.0	110.0					1																	158389859		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389859G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.798C>T	1.37:g.158389859G>A							p.Y266Y	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	798	-	all_hematologic(112;0.0378)		266			Extracellular (Potential).			Silent	SNP	ENST00000314902.2	37	c.798C>T	CCDS30896.1																																																																																				0.398	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		133	20	0	0	0	0	133	20				
ARHGAP30	257106	broad.mit.edu	37	1	161018684	161018684	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:161018684A>G	ENST00000368013.3	-	12	2447	c.2127T>C	c.(2125-2127)agT>agC	p.S709S	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.S532S|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	709	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCTTCCCTACTCCCTTCTC	0.527																																						uc001fxl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2125-2127)AGT>AGC		Rho GTPase activating protein 30 isoform 1							236.0	247.0	243.0					1																	161018684		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018684A>G	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2127T>C	1.37:g.161018684A>G						USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.S555S|ARHGAP30_uc009wtx.2_Silent_p.S382S	p.S709S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2473	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		709			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.2127T>C	CCDS30918.1																																																																																				0.527	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		263	354	0	0	0	0	263	354				
GPA33	10223	broad.mit.edu	37	1	167024302	167024302	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167024302A>T	ENST00000367868.3	-	6	1081	c.738T>A	c.(736-738)gtT>gtA	p.V246V	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	246						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGGGCTGCAACCACGCCCA	0.577																																						uc001gea.1		NA																	0					0						c.(736-738)GTT>GTA		transmembrane glycoprotein A33 precursor							131.0	100.0	110.0					1																	167024302		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167024302A>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.738T>A	1.37:g.167024302A>T							p.V246V	NM_005814	NP_005805	Q99795	GPA33_HUMAN			6	1082	-			246			Helical; (Potential).		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.738T>A	CCDS1258.1																																																																																				0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		91	16	0	0	0	0	91	16				
CD247	919	broad.mit.edu	37	1	167408592	167408592	+	Nonsense_Mutation	SNP	G	G	A	rs74315290|rs193922741|rs193922739		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167408592G>A	ENST00000362089.5	-	3	280	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	CD247_ENST00000392122.3_Nonsense_Mutation_p.Q70*|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	70	ITAM 1. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	TTATAGAGCTGGTTCTGGCCC	0.637																																					Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NA																	0					0	GRCh37	CM061679	CD247	M	rs74315290	c.(208-210)CAG>TAG		T-cell receptor zeta chain isoform 1 precursor							79.0	76.0	77.0					1																	167408592		2203	4300	6503	SO:0001587	stop_gained	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167408592G>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.208C>T	1.37:g.167408592G>A	ENSP00000354782:p.Gln70*					CD247_uc001gej.3_Nonsense_Mutation_p.Q70*|CD247_uc001gek.2_Nonsense_Mutation_p.Q70*	p.Q70*	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		3	353	-			70			Cytoplasmic (Potential).|ITAM 1.		B1AK49|Q5VX13|Q8TAX4	Nonsense_Mutation	SNP	ENST00000362089.5	37	c.208C>T	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848103	0.97023	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	4.17	4.17	0.49024	.	1.075700	0.07461	U	0.900603	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	12.3391	0.55083	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000354782:Q70X	Q	-	1	0	CD247	165675216	0.738000	0.28186	0.086000	0.20670	0.707000	0.40811	4.389000	0.59639	2.000000	0.58554	0.561000	0.74099	CAG		0.637	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		60	120	0	0	0	0	60	120				
SELP	6403	broad.mit.edu	37	1	169580850	169580850	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:169580850C>G	ENST00000263686.6	-	7	1064	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.A281P|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.A281P|SELP_ENST00000367786.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	343	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TAGGCAAAAGCAGTGAGCGGA	0.532																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(1027-1029)GCT>CCT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						124.0	121.0	122.0					1																	169580850		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169580850C>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1027G>C	1.37:g.169580850C>G	ENSP00000263686:p.Ala343Pro					SELP_uc001ggh.2_Missense_Mutation_p.A178P|SELP_uc009wvr.2_Missense_Mutation_p.A343P	p.A343P	NM_003005	NP_002996	P16109	LYAM3_HUMAN			7	1092	-	all_hematologic(923;0.208)		343			Sushi 3.|Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1027G>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145599	0.09134	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	T;T;T	0.64438	-0.1;1.9;1.9	4.95	-2.62	0.06152	Complement control module (2);Sushi/SCR/CCP (3);	0.459276	0.20331	N	0.094421	T	0.15825	0.0381	N	0.16656	0.425	0.09310	N	0.999999	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.004	T	0.17623	-1.0363	10	0.29301	T	0.29	-6.4281	3.1516	0.06490	0.1258:0.3544:0.3616:0.1581	.	343;343;343	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	P	343;342;343;343;281;281	ENSP00000263686:A343P;ENSP00000356767:A281P;ENSP00000356762:A281P	ENSP00000263686:A343P	A	-	1	0	SELP	167847474	0.000000	0.05858	0.080000	0.20451	0.173000	0.22820	-0.546000	0.06062	-0.102000	0.12197	0.655000	0.94253	GCT		0.532	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		130	21	0	0	0	0	130	21				
KCNT2	343450	broad.mit.edu	37	1	196285139	196285139	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:196285139C>G	ENST00000294725.9	-	21	3281	c.2366G>C	c.(2365-2367)aGg>aCg	p.R789T	KCNT2_ENST00000367431.4_Missense_Mutation_p.R715T|KCNT2_ENST00000367433.5_Missense_Mutation_p.R765T|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R715T|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	789					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CACTCCACACCTGAGTAAGTC	0.393																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2365-2367)AGG>ACG		potassium channel, subfamily T, member 2							103.0	88.0	93.0					1																	196285139		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285139C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2366G>C	1.37:g.196285139C>G	ENSP00000294725:p.Arg789Thr					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R715T|KCNT2_uc001gtf.1_Missense_Mutation_p.R765T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R765T|KCNT2_uc001gth.1_Missense_Mutation_p.R286T	p.R789T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			21	2426	-			789			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2366G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207335	0.39003	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79749	-1.3;-1.3;-1.3	5.87	3.93	0.45458	.	0.085487	0.50627	D	0.000104	T	0.80188	0.4577	M	0.80847	2.515	0.80722	D	1	B;B;B;B;B	0.25312	0.037;0.026;0.123;0.123;0.037	B;B;B;B;B	0.29077	0.025;0.025;0.037;0.098;0.025	T	0.79286	-0.1866	10	0.62326	D	0.03	-11.116	8.8588	0.35245	0.0:0.7661:0.0:0.2339	.	789;747;765;715;789	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	T	765;715;789	ENSP00000356403:R765T;ENSP00000356401:R715T;ENSP00000294725:R789T	ENSP00000294725:R789T	R	-	2	0	KCNT2	194551762	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.481000	0.45215	1.387000	0.46486	-0.355000	0.07637	AGG		0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		29	7	0	0	0	0	29	7				
F13B	2165	broad.mit.edu	37	1	197031010	197031010	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:197031010C>A	ENST00000367412.1	-	3	398	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(355-357)GCT>TCT		coagulation factor XIII B subunit precursor							136.0	113.0	121.0					1																	197031010		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197031010C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.355G>T	1.37:g.197031010C>A	ENSP00000356382:p.Ala119Ser						p.A119S	NM_001994	NP_001985	P05160	F13B_HUMAN			3	399	-			119			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.355G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.259114	0.01445	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.85	-1.28	0.09318	Complement control module (2);Sushi/SCR/CCP (3);	1.225850	0.06381	N	0.715225	T	0.36054	0.0953	N	0.05554	-0.025	0.09310	N	1	B	0.15141	0.012	B	0.20955	0.032	T	0.14896	-1.0456	10	0.16420	T	0.52	.	4.3646	0.11218	0.3183:0.3207:0.0:0.361	.	119	P05160	F13B_HUMAN	S	119	ENSP00000356382:A119S	ENSP00000356382:A119S	A	-	1	0	F13B	195297633	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.804000	0.04535	-0.542000	0.06249	0.655000	0.94253	GCT		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		46	18	1	0	4.44e-20	5.7e-20	46	18				
CR1L	1379	broad.mit.edu	37	1	207871016	207871016	+	Missense_Mutation	SNP	G	G	C	rs532505670		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:207871016G>C	ENST00000508064.2	+	6	1091	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	344	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAGCCCCCAGATGTGAAGGT	0.493													.|||	1	0.000199681	0.0	0.0014	5008	,	,		20118	0.0		0.0	False		,,,				2504	0.0					uc001hga.3		NA																	0					0						c.(1030-1032)AGA>ACA		complement component (3b/4b) receptor 1-like							170.0	170.0	170.0					1																	207871016		1893	4118	6011	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207871016G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1031G>C	1.37:g.207871016G>C	ENSP00000421736:p.Arg344Thr					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.R344T	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			6	1152	+			344			Sushi 5.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1031G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	0.020	-1.448032	0.01080	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.63096	-0.02	2.53	0.428	0.16499	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33789	0.0875	N	0.11000	0.08	0.21445	N	0.999686	B	0.11235	0.004	B	0.08055	0.003	T	0.18366	-1.0339	9	0.13470	T	0.59	.	3.7628	0.08610	0.1908:0.4411:0.3681:0.0	.	344	Q2VPA4	CR1L_HUMAN	T	344	ENSP00000421736:R344T	ENSP00000434864:R288T	R	+	2	0	CR1L	205937639	0.000000	0.05858	0.933000	0.37362	0.156000	0.22039	-0.921000	0.04008	0.321000	0.23259	0.298000	0.19748	AGA		0.493	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		286	64	0	0	0	0	286	64				
CENPF	1063	broad.mit.edu	37	1	214819347	214819347	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:214819347G>A	ENST00000366955.3	+	13	6602	c.6434G>A	c.(6433-6435)cGc>cAc	p.R2145H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2241	Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAAAGAACGCGAGCGGGAG	0.468																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(6433-6435)CGC>CAC		centromere protein F							67.0	66.0	66.0					1																	214819347		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819347G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6434G>A	1.37:g.214819347G>A	ENSP00000355922:p.Arg2145His						p.R2145H	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6608	+			2241			Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6434G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377540	0.24944	.	.	ENSG00000117724	ENST00000366955	T	0.42513	0.97	5.46	4.55	0.56014	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.708276	0.12177	N	0.492437	T	0.28499	0.0705	N	0.22421	0.69	0.21355	N	0.999714	D	0.56746	0.977	B	0.42771	0.397	T	0.06991	-1.0796	10	0.41790	T	0.15	.	5.9571	0.19279	0.1668:0.2868:0.5464:0.0	.	2241	P49454	CENPF_HUMAN	H	2145	ENSP00000355922:R2145H	ENSP00000355922:R2145H	R	+	2	0	CENPF	212885970	0.055000	0.20627	0.003000	0.11579	0.013000	0.08279	1.236000	0.32683	1.308000	0.44962	-0.192000	0.12808	CGC		0.468	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		94	13	0	0	0	0	94	13				
ESRRG	2104	broad.mit.edu	37	1	216850746	216850746	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:216850746G>A	ENST00000408911.3	-	2	297	c.144C>T	c.(142-144)tcC>tcT	p.S48S	ESRRG_ENST00000360012.3_Silent_p.S25S|ESRRG_ENST00000493748.1_Silent_p.S25S|ESRRG_ENST00000493603.1_Silent_p.S25S|ESRRG_ENST00000361395.2_Silent_p.S25S|ESRRG_ENST00000487276.1_Silent_p.S25S|ESRRG_ENST00000463665.1_Silent_p.S25S|ESRRG_ENST00000366938.2_Silent_p.S25S|ESRRG_ENST00000359162.2_Silent_p.S25S|ESRRG_ENST00000361525.3_Silent_p.S25S|ESRRG_ENST00000366940.2_Silent_p.S25S|ESRRG_ENST00000366937.1_Silent_p.S53S|ESRRG_ENST00000391890.3_Silent_p.S25S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	48					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTCCGTCAGGGAGGCTGGGC	0.537																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(142-144)TCC>TCT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						97.0	88.0	91.0					1																	216850746		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850746G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.144C>T	1.37:g.216850746G>A						ESRRG_uc001hky.1_Silent_p.S25S|ESRRG_uc009xdp.1_Silent_p.S25S|ESRRG_uc001hkz.1_Silent_p.S25S|ESRRG_uc010puc.1_Silent_p.S25S|ESRRG_uc001hla.1_Silent_p.S25S|ESRRG_uc001hlb.1_Silent_p.S25S|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.S25S|ESRRG_uc001hld.1_Silent_p.S25S|ESRRG_uc001hkx.1_Silent_p.S53S|ESRRG_uc009xdo.1_Silent_p.S25S|ESRRG_uc001hle.1_Silent_p.S25S	p.S48S	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	310	-			48					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.144C>T	CCDS41468.1																																																																																				0.537	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		81	21	0	0	0	0	81	21				
CCDC185	164127	broad.mit.edu	37	1	223568029	223568029	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:223568029C>G	ENST00000366875.3	+	1	1315	c.1212C>G	c.(1210-1212)gcC>gcG	p.A404A		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		404										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGTGGAAGCCTGTCGCAAGA	0.622																																						uc001hoa.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1210-1212)GCC>GCG		hypothetical protein LOC164127							32.0	30.0	30.0					1																	223568029		2202	4299	6501	SO:0001819	synonymous_variant	164127							g.chr1:223568029C>G																												ENST00000366875.3:c.1212C>G	1.37:g.223568029C>G							p.A404A	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1315	+			404					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.1212C>G	CCDS1537.1																																																																																				0.622	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			43	6	0	0	0	0	43	6				
PARP1	142	broad.mit.edu	37	1	226549218	226549218	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:226549218C>T	ENST00000366794.5	-	23	3131	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	996	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCAGATTTACCTGAGCAATAT	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3		NA																	0				lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(2986-2988)CAG>CAA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							76.0	67.0	70.0					1																	226549218		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226549218C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2988G>A	1.37:g.226549218C>T							p.Q996Q	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	23	3159	-	Breast(184;0.133)		996			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2988G>A	CCDS1554.1																																																																																				0.473	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		50	6	0	0	0	0	50	6				
COG2	22796	broad.mit.edu	37	1	230827172	230827172	+	Silent	SNP	G	G	A	rs199784400		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:230827172G>A	ENST00000366669.4	+	17	2092	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	COG2_ENST00000535166.1_Silent_p.K543K|COG2_ENST00000546013.1_Silent_p.K348K|COG2_ENST00000534989.1_Silent_p.K600K|COG2_ENST00000366668.3_Silent_p.K658K	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	659					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGTGAAGAAGATGGAAGAGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		13333	0.0		0.001	False		,,,				2504	0.0					uc001htw.2		NA																	0					0						c.(1975-1977)AAG>AAA		component of oligomeric golgi complex 2 isoform							61.0	64.0	63.0					1																	230827172		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230827172G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1977G>A	1.37:g.230827172G>A						COG2_uc001htx.2_Silent_p.K658K|COG2_uc010pwc.1_Silent_p.K532K	p.K659K	NM_007357	NP_031383	Q14746	COG2_HUMAN			17	2128	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	659					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1977G>A	CCDS1584.1																																																																																				0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		62	7	0	0	0	0	62	7				
ARID4B	51742	broad.mit.edu	37	1	235345469	235345469	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:235345469T>G	ENST00000264183.3	-	20	3262	c.2765A>C	c.(2764-2766)aAa>aCa	p.K922T	ARID4B_ENST00000349213.3_Missense_Mutation_p.K836T|ARID4B_ENST00000366603.2_Missense_Mutation_p.K922T|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	922					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCGATCTTTGGCCCTGCT	0.408																																						uc001hwq.2		NA																	0				ovary(2)|lung(1)	3						c.(2764-2766)AAA>ACA		AT rich interactive domain 4B isoform 1							73.0	78.0	76.0					1																	235345469		2202	4299	6501	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345469T>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2765A>C	1.37:g.235345469T>G	ENSP00000264183:p.Lys922Thr					ARID4B_uc001hwr.2_Missense_Mutation_p.K836T|ARID4B_uc001hws.3_Missense_Mutation_p.K836T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.K603T	p.K922T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3263	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	922					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2765A>C	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.37|19.37	3.813755|3.813755	0.70912|0.70912	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.33216	.|1.42;1.46;1.46	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.42131|0.42131	0.1189|0.1189	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.996;1.0;0.993	.|D;D;D;D	.|0.83275	.|0.996;0.986;0.996;0.968	T|T	0.29027|0.29027	-1.0025|-1.0025	7|10	0.41790|0.38643	T|T	0.15|0.18	-20.922|-20.922	15.8361|15.8361	0.78799|0.78799	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|603;922;836;922	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	Q|T	322|922;836;922;922	.|ENSP00000264184:K836T;ENSP00000355562:K922T;ENSP00000264183:K922T	ENSP00000416063:K322Q|ENSP00000264183:K922T	K|K	-|-	1|2	0|0	ARID4B|ARID4B	233412092|233412092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.698000|7.698000	0.84413|0.84413	2.144000|2.144000	0.66660|0.66660	0.477000|0.477000	0.44152|0.44152	AAG|AAA		0.408	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		191	31	0	0	0	0	191	31				
RYR2	6262	broad.mit.edu	37	1	237670115	237670115	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237670115G>T	ENST00000366574.2	+	23	3035		c.e23+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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)			GTATGGTCCGGTATGTAATTT	0.368																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e23+1		cardiac muscle ryanodine receptor							96.0	98.0	97.0					1																	237670115		1827	4084	5911	SO:0001630	splice_region_variant	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.chr1:237670115G>T	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.2718+1G>T	1.37:g.237670115G>T							p.P906_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2838	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.2718_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804913	0.70682	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3546	0.94407	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235736738	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.813000	0.99286	2.568000	0.86640	0.585000	0.79938	.		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	15	22	1	0	2.62e-11	3.12e-11	15	22				
RYR2	6262	broad.mit.edu	37	1	237711878	237711879	+	Nonsense_Mutation	DNP	TG	TG	AT	rs113422365		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237711878_237711879TG>AT	ENST00000366574.2	+	26	3371_3372	c.3054_3055TG>AT	c.(3052-3057)taTGgc>taATgc	p.1018_1019YG>*C	RYR2_ENST00000542537.1_Nonsense_Mutation_p.1002_1003YG>*C|RYR2_ENST00000360064.6_Nonsense_Mutation_p.1016_1017YG>*C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1018	4 X approximate repeats.				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)			GCTGGACTTATGGCATCCAACA	0.426																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3052-3057)TATGGC>TAATGC		cardiac muscle ryanodine receptor																																				SO:0001587	stop_gained	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.chr1:237711878_237711879TG>AT	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	Exception_encountered	1.37:g.237711878_237711879delinsAT	ENSP00000355533:p.Y1018_G1019delins*C						p.1018_1019YG>*C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3174_3175	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1018_1019			Cytoplasmic (By similarity).|2.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	DNP	ENST00000366574.2	37	c.3054_3055TG>AT	CCDS55691.1																																																																																				0.426	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		42	11	0	0	0	0	42	11				
RYR2	6262	broad.mit.edu	37	1	237778123	237778123	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237778123C>T	ENST00000366574.2	+	37	6012	c.5695C>T	c.(5695-5697)Cca>Tca	p.P1899S	RYR2_ENST00000542537.1_Missense_Mutation_p.P1883S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1897S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1899	4 X approximate repeats.				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)			AATGAAACTGCCAGAGCCAGT	0.468																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5695-5697)CCA>TCA		cardiac muscle ryanodine receptor							36.0	39.0	38.0					1																	237778123		1937	4135	6072	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.chr1:237778123C>T	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.5695C>T	1.37:g.237778123C>T	ENSP00000355533:p.Pro1899Ser						p.P1899S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5815	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1899			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5695C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122530	0.77436	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72725	-0.68;-0.68;-0.68	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	T	0.81735	0.4885	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81852	-0.0742	10	0.59425	D	0.04	.	19.6609	0.95871	0.0:1.0:0.0:0.0	.	1899	Q92736	RYR2_HUMAN	S	1899;1897;1883	ENSP00000355533:P1899S;ENSP00000353174:P1897S;ENSP00000443798:P1883S	ENSP00000353174:P1897S	P	+	1	0	RYR2	235844746	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.956000	0.70315	2.665000	0.90641	0.650000	0.86243	CCA		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		63	9	0	0	0	0	63	9				
OPN3	23596	broad.mit.edu	37	1	241761198	241761198	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:241761198C>T	ENST00000366554.2	-	3	901	c.795G>A	c.(793-795)ctG>ctA	p.L265L	OPN3_ENST00000331838.5_Silent_p.L186L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	265					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCAACAGACCAGGAAGGTGA	0.378																																						uc001hza.2		NA																	0					0						c.(793-795)CTG>CTA		opsin 3							153.0	148.0	150.0					1																	241761198		2203	4300	6503	SO:0001819	synonymous_variant	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761198C>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.795G>A	1.37:g.241761198C>T						OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	p.L265L	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	940	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	265			Helical; Name=6; (Potential).		Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	c.795G>A	CCDS31072.1																																																																																				0.378	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		101	23	0	0	0	0	101	23				
OR2T12	127064	broad.mit.edu	37	1	248458280	248458280	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248458280A>T	ENST00000317996.1	-	1	600	c.601T>A	c.(601-603)Tgt>Agt	p.C201S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTAACACACAGCAGATGTAC	0.542																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(601-603)TGT>AGT		olfactory receptor, family 2, subfamily T,							48.0	39.0	42.0					1																	248458280		2202	4296	6498	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458280A>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.601T>A	1.37:g.248458280A>T	ENSP00000324583:p.Cys201Ser						p.C201S	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	601	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		201			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.601T>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.337893	0.41398	.	.	ENSG00000177201	ENST00000317996	T	0.34667	1.35	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001687	T	0.34048	0.0884	N	0.16201	0.385	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05649	-1.0872	10	0.45353	T	0.12	.	4.556	0.12136	0.7143:0.0:0.0:0.2857	.	201	Q8NG77	O2T12_HUMAN	S	201	ENSP00000324583:C201S	ENSP00000324583:C201S	C	-	1	0	OR2T12	246524903	0.000000	0.05858	0.124000	0.21820	0.369000	0.29798	-2.464000	0.00996	0.540000	0.28808	0.147000	0.16070	TGT		0.542	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		107	24	0	0	0	0	107	24				
OR2G6	391211	broad.mit.edu	37	1	248685252	248685252	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248685252A>T	ENST00000343414.4	+	1	337	c.305A>T	c.(304-306)tAt>tTt	p.Y102F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCAGCTCTATGTGGCCATG	0.537																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(304-306)TAT>TTT		olfactory receptor, family 2, subfamily G,							110.0	108.0	108.0					1																	248685252		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685252A>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.305A>T	1.37:g.248685252A>T	ENSP00000341291:p.Tyr102Phe						p.Y102F	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	305	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	102			Helical; Name=3; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.305A>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	3.374	-0.127731	0.06753	.	.	ENSG00000188558	ENST00000343414	T	0.00478	7.13	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	U	0.001115	T	0.00384	0.0012	N	0.10707	0.03	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	T	0.54794	-0.8240	10	0.05620	T	0.96	.	7.3092	0.26465	0.8034:0.0:0.0:0.1966	.	102	Q5TZ20	OR2G6_HUMAN	F	102	ENSP00000341291:Y102F	ENSP00000341291:Y102F	Y	+	2	0	OR2G6	246751875	0.000000	0.05858	0.260000	0.24451	0.133000	0.20885	-2.035000	0.01423	1.523000	0.49018	0.329000	0.21502	TAT		0.537	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		127	19	0	0	0	0	127	19				
OR14I1	401994	broad.mit.edu	37	1	248845040	248845040	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248845040T>A	ENST00000342623.3	-	1	589	c.566A>T	c.(565-567)gAg>gTg	p.E189V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	189						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAGAAAACCTCACAGGAAAC	0.483																																						uc001ieu.1		NA																	0					0						c.(565-567)GAG>GTG		olfactory receptor, family 14, subfamily I,							79.0	85.0	83.0					1																	248845040		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845040T>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.566A>T	1.37:g.248845040T>A	ENSP00000339726:p.Glu189Val						p.E189V	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	566	-			189			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.566A>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.836533	0.50951	.	.	ENSG00000189181	ENST00000342623	T	0.00164	8.64	3.3	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.577647	0.14966	N	0.288079	T	0.00144	0.0004	L	0.33624	1.015	0.09310	N	1	B	0.22414	0.069	B	0.29176	0.099	T	0.20338	-1.0278	10	0.66056	D	0.02	.	6.7388	0.23424	0.0:0.1274:0.0:0.8726	.	189	A6ND48	O14I1_HUMAN	V	189	ENSP00000339726:E189V	ENSP00000339726:E189V	E	-	2	0	OR14I1	246911663	0.001000	0.12720	0.003000	0.11579	0.981000	0.71138	0.866000	0.27954	1.337000	0.45525	0.443000	0.29094	GAG		0.483	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		60	14	0	0	0	0	60	14				
GTPBP4	23560	broad.mit.edu	37	10	1034450	1034450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:1034450G>T	ENST00000360803.4	+	1	113	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	AL359878.1_ENST00000381466.1_5'Flank|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000545048.1_5'Flank|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	11					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAAATTACGGTGGTGCCGTC	0.657																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(31-33)GTG>TTG		G protein-binding protein CRFG							32.0	33.0	33.0					10																	1034450		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1034450G>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.31G>T	10.37:g.1034450G>T	ENSP00000354040:p.Val11Leu					GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_5'Flank	p.V11L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	1	102	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	11					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.31G>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966518	0.92855	.	.	ENSG00000107937	ENST00000360803	T	0.33438	1.41	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.89715	3.055	0.80722	D	1	P	0.47841	0.901	B	0.43301	0.415	T	0.59794	-0.7387	10	0.48119	T	0.1	-29.0025	16.5491	0.84464	0.0:0.0:1.0:0.0	.	11	Q9BZE4	NOG1_HUMAN	L	11	ENSP00000354040:V11L	ENSP00000354040:V11L	V	+	1	0	GTPBP4	1024450	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.692000	0.84203	2.559000	0.86315	0.561000	0.74099	GTG		0.657	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		20	5	1	0	6.45e-10	7.53e-10	20	5				
CUBN	8029	broad.mit.edu	37	10	17083215	17083215	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17083215A>C	ENST00000377833.4	-	27	3899	c.3834T>G	c.(3832-3834)tgT>tgG	p.C1278W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1278	CUB 8. {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)	CCACATTCTCACATGCTGGAA	0.343																																						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.(3832-3834)TGT>TGG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						114.0	113.0	113.0					10																	17083215		2203	4299	6502	SO:0001583	missense	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.chr10:17083215A>C	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.3834T>G	10.37:g.17083215A>C	ENSP00000367064:p.Cys1278Trp						p.C1278W	NM_001081	NP_001072	O60494	CUBN_HUMAN			27	3886	-			1278			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3834T>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228506	0.39399	.	.	ENSG00000107611	ENST00000377833	D	0.97041	-4.22	5.84	0.956	0.19608	CUB (5);	0.000000	0.51477	D	0.000097	D	0.98585	0.9527	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97644	1.0150	10	0.87932	D	0	.	8.2987	0.32001	0.4034:0.0:0.5966:0.0	.	1278	O60494	CUBN_HUMAN	W	1278	ENSP00000367064:C1278W	ENSP00000367064:C1278W	C	-	3	2	CUBN	17123221	1.000000	0.71417	0.175000	0.22980	0.504000	0.33889	1.857000	0.39399	0.142000	0.18901	-0.379000	0.06801	TGT		0.343	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		65	19	0	0	0	0	65	19				
CUBN	8029	broad.mit.edu	37	10	17142060	17142060	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17142060G>A	ENST00000377833.4	-	14	1774	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	570	CUB 1. {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)	TAAATGTTCAGAATAGAGATG	0.418																																						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.(1708-1710)TCT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						124.0	124.0	124.0					10																	17142060		2203	4300	6503	SO:0001583	missense	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.chr10:17142060G>A	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.1709C>T	10.37:g.17142060G>A	ENSP00000367064:p.Ser570Phe						p.S570F	NM_001081	NP_001072	O60494	CUBN_HUMAN			14	1761	-			570			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1709C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689931	0.68271	.	.	ENSG00000107611	ENST00000377833	T	0.66638	-0.22	5.51	5.51	0.81932	CUB (5);	0.000000	0.42294	D	0.000723	D	0.87981	0.6315	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91226	0.5010	10	0.87932	D	0	.	19.4192	0.94713	0.0:0.0:1.0:0.0	.	570	O60494	CUBN_HUMAN	F	570	ENSP00000367064:S570F	ENSP00000367064:S570F	S	-	2	0	CUBN	17182066	1.000000	0.71417	0.131000	0.22000	0.394000	0.30568	8.960000	0.93117	2.586000	0.87340	0.650000	0.86243	TCT		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		105	36	0	0	0	0	105	36				
GAD2	2572	broad.mit.edu	37	10	26512888	26512888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:26512888C>A	ENST00000376261.3	+	5	1096	c.593C>A	c.(592-594)tCa>tAa	p.S198*	GAD2_ENST00000376248.1_Nonsense_Mutation_p.S84*|GAD2_ENST00000259271.3_Nonsense_Mutation_p.S198*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	198					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGCTGACATCAACAGCAAAT	0.343																																						uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(592-594)TCA>TAA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						134.0	122.0	126.0					10																	26512888		2203	4300	6503	SO:0001587	stop_gained	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26512888C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.593C>A	10.37:g.26512888C>A	ENSP00000365437:p.Ser198*					GAD2_uc001isq.2_Nonsense_Mutation_p.S198*	p.S198*	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			5	1096	+			198					Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	37	c.593C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	37	6.436511	0.97564	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5713	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	X	198;198;84	.	ENSP00000259271:S198X	S	+	2	0	GAD2	26552894	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.692000	0.91855	0.655000	0.94253	TCA		0.343	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		40	13	1	0	6.97e-18	8.8e-18	40	13				
RBP3	5949	broad.mit.edu	37	10	48388397	48388397	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:48388397G>T	ENST00000224600.4	-	1	2594	c.2481C>A	c.(2479-2481)ccC>ccA	p.P827P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	827	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGCGACCTGGGGCAAGGTCC	0.612																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2479-2481)CCC>CCA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						22.0	22.0	22.0					10																	48388397		2202	4298	6500	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388397G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2481C>A	10.37:g.48388397G>T							p.P827P	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2595	-			827			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2481C>A	CCDS7218.1																																																																																				0.612	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	8	1	0	7.93e-07	8.83e-07	14	8				
C10orf71	118461	broad.mit.edu	37	10	50532657	50532657	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:50532657G>A	ENST00000374144.3	+	3	2355	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	C10orf71_ENST00000323868.4_Silent_p.Q689Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	689								p.Q689Q(2)		endometrium(1)	1						CAGGACTTCAGAACACACATT	0.502																																						uc010qgp.1		NA																	2	Substitution - coding silent(2)		large_intestine(2)		0						c.(2065-2067)CAG>CAA		hypothetical protein LOC118461 isoform 2							44.0	45.0	45.0					10																	50532657		1868	4097	5965	SO:0001819	synonymous_variant	118461							g.chr10:50532657G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2067G>A	10.37:g.50532657G>A							p.Q689Q	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	2406	+			689					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.2067G>A	CCDS44387.1																																																																																				0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		25	11	0	0	0	0	25	11				
A1CF	29974	broad.mit.edu	37	10	52573752	52573752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:52573752G>T	ENST00000373993.1	-	8	1256	c.1212C>A	c.(1210-1212)taC>taA	p.Y404*	A1CF_ENST00000282641.2_Nonsense_Mutation_p.Y404*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.Y396*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.Y396*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Y404*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Nonsense_Mutation_p.Y397*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Y349*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	404	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGGCCTGTGTATGCCAAAT	0.483																																						uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(1210-1212)TAC>TAA		apobec-1 complementation factor isoform 2							105.0	104.0	104.0					10																	52573752		2203	4300	6503	SO:0001587	stop_gained	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573752G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1212C>A	10.37:g.52573752G>T	ENSP00000363105:p.Tyr404*					A1CF_uc010qhn.1_Nonsense_Mutation_p.Y404*|A1CF_uc001jji.2_Nonsense_Mutation_p.Y396*|A1CF_uc001jjh.2_Nonsense_Mutation_p.Y404*|A1CF_uc010qho.1_Nonsense_Mutation_p.Y412*|A1CF_uc009xov.2_Nonsense_Mutation_p.Y396*	p.Y404*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			10	1400	-			404			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	c.1212C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575129	0.96553	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.87	1.95	0.26073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8881	8.9255	0.35637	0.3099:0.0:0.6901:0.0	.	.	.	.	X	396;404;396;404;404;349;379;397	.	ENSP00000282641:Y404X	Y	-	3	2	A1CF	52243758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.488000	0.35551	0.379000	0.24794	0.655000	0.94253	TAC		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		94	30	1	0	2.09e-44	3.08e-44	94	30				
PCDH15	65217	broad.mit.edu	37	10	55600188	55600188	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:55600188C>A	ENST00000320301.6	-	29	4269	c.3875G>T	c.(3874-3876)cGc>cTc	p.R1292L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1292L|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1270L|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1299L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1299L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1221L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1255L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1297L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R903L|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1292					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCATGCCGGCGAGCTCCAAT	0.448										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3874-3876)CGC>CTC		protocadherin 15 isoform CD1-4 precursor							115.0	105.0	109.0					10																	55600188		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600188C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3875G>T	10.37:g.55600188C>A	ENSP00000322604:p.Arg1292Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R1297L|PCDH15_uc010qhr.1_Missense_Mutation_p.R1292L|PCDH15_uc010qhs.1_Missense_Mutation_p.R1304L|PCDH15_uc010qht.1_Missense_Mutation_p.R1299L|PCDH15_uc010qhu.1_Missense_Mutation_p.R1292L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1292L|PCDH15_uc010qhw.1_Missense_Mutation_p.R1255L|PCDH15_uc010qhx.1_Missense_Mutation_p.R1221L|PCDH15_uc010qhy.1_Missense_Mutation_p.R1297L|PCDH15_uc010qhz.1_Missense_Mutation_p.R1292L|PCDH15_uc010qia.1_Missense_Mutation_p.R1270L|PCDH15_uc010qib.1_Missense_Mutation_p.R1270L	p.R1292L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			29	4270	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1292			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3875G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152161	0.94645	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60299	0.34;0.38;0.32;0.31;0.29;0.23;0.2;0.26;0.21;0.2;0.2	5.43	5.43	0.79202	.	.	.	.	.	T	0.69006	0.3063	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.997;0.998;0.998;0.995;0.977;0.998;0.997;0.959;0.979;0.979;0.979;0.989;0.998	D;D;D;P;D;D;D;P;D;D;D;D;D	0.83275	0.996;0.963;0.963;0.899;0.926;0.963;0.996;0.694;0.926;0.926;0.926;0.926;0.963	T	0.71576	-0.4551	9	0.87932	D	0	.	19.1946	0.93682	0.0:1.0:0.0:0.0	.	1270;1292;1292;1297;1221;1255;1292;1292;1299;1299;1292;1297;1292	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	1299;1297;1292;1292;903;1299;1255;1292;1270;1292;1292;1297;1221	ENSP00000363076:R1299L;ENSP00000410304:R1297L;ENSP00000378826:R1292L;ENSP00000386693:R903L;ENSP00000378832:R1299L;ENSP00000378820:R1255L;ENSP00000354950:R1292L;ENSP00000378821:R1270L;ENSP00000322604:R1292L;ENSP00000378818:R1292L;ENSP00000412628:R1221L	ENSP00000322604:R1292L	R	-	2	0	PCDH15	55270194	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.765000	0.85310	2.703000	0.92315	0.579000	0.79373	CGC		0.448	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		76	15	1	0	5.33e-40	7.76e-40	76	15				
CTNNA3	29119	broad.mit.edu	37	10	69281617	69281617	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:69281617C>T	ENST00000433211.2	-	5	736	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A188T|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A188T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGTTTGAAGGCTAAATAATCC	0.478																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(562-564)GCC>ACC		catenin, alpha 3							109.0	106.0	107.0					10																	69281617		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69281617C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.562G>A	10.37:g.69281617C>T	ENSP00000389714:p.Ala188Thr					CTNNA3_uc001jmw.2_Missense_Mutation_p.A188T|CTNNA3_uc001jmx.3_Missense_Mutation_p.A188T|CTNNA3_uc009xpo.1_Missense_Mutation_p.A48T|CTNNA3_uc001jna.2_Missense_Mutation_p.A200T	p.A188T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			5	685	-			188						Missense_Mutation	SNP	ENST00000433211.2	37	c.562G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657958	0.67586	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.19	5.19	0.71726	.	0.000000	0.52532	D	0.000079	T	0.43567	0.1253	N	0.17474	0.49	0.39190	D	0.962941	D;D;B;D	0.69078	0.997;0.997;0.289;0.997	D;D;B;D	0.80764	0.994;0.994;0.279;0.989	T	0.48990	-0.8985	10	0.54805	T	0.06	-9.3801	14.2164	0.65795	0.0:1.0:0.0:0.0	.	188;188;188;188	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	188	ENSP00000389714:A188T;ENSP00000362849:A188T;ENSP00000441444:A188T;ENSP00000330570:A188T	ENSP00000330570:A188T	A	-	1	0	CTNNA3	68951623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.597000	0.61062	2.430000	0.82344	0.467000	0.42956	GCC		0.478	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		43	23	0	0	0	0	43	23				
CNNM1	26507	broad.mit.edu	37	10	101120594	101120594	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101120594G>C	ENST00000356713.4	+	3	2009	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	CNNM1_ENST00000370528.3_Missense_Mutation_p.D503H|CNNM1_ENST00000370534.4_Missense_Mutation_p.D209H|CNNM1_ENST00000446890.1_Missense_Mutation_p.D503H	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	574					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCCCACAGCTGACAATCGGAA	0.507																																						uc001kpp.3		NA																	0					0						c.(1720-1722)GAC>CAC		cyclin M1							122.0	129.0	127.0					10																	101120594		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120594G>C	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1720G>C	10.37:g.101120594G>C	ENSP00000349147:p.Asp574His					CNNM1_uc009xwe.2_Missense_Mutation_p.D574H|CNNM1_uc010qpi.1_Missense_Mutation_p.D574H|CNNM1_uc009xwf.2_Missense_Mutation_p.D574H|CNNM1_uc009xwg.2_5'UTR	p.D574H	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2009	+		Colorectal(252;0.234)	574					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1720G>C	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377452	0.82682	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.86627	-2.15;-2.1;-2.06;-1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.969	D;D;D;P	0.83275	0.996;0.995;0.996;0.766	D	0.95722	0.8767	10	0.87932	D	0	-5.3787	19.679	0.95950	0.0:0.0:1.0:0.0	.	209;574;209;574	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	H	574;503;503;209;27	ENSP00000349147:D574H;ENSP00000406492:D503H;ENSP00000359559:D503H;ENSP00000359565:D209H	ENSP00000349147:D574H	D	+	1	0	CNNM1	101110584	1.000000	0.71417	0.994000	0.49952	0.549000	0.35272	8.020000	0.88740	2.651000	0.90000	0.655000	0.94253	GAC		0.507	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		137	58	0	0	0	0	137	58				
ABCC2	1244	broad.mit.edu	37	10	101591439	101591439	+	Silent	SNP	G	G	A	rs139082536	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101591439G>A	ENST00000370449.4	+	22	3068	c.2955G>A	c.(2953-2955)gcG>gcA	p.A985A		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	985	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)	p.A985A(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCATCCTTGCGTTTGTGATGA	0.433																																						uc001kqf.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(2953-2955)GCG>GCA		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)			2,4404	4.2+/-10.8	0,2,2201	173.0	162.0	166.0		2955	-0.1	0.0	10	dbSNP_134	166	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ABCC2	NM_000392.3		0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384		985/1546	101591439	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101591439G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2955G>A	10.37:g.101591439G>A							p.A985A	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	22	3094	+		Colorectal(252;0.234)	985			ABC transmembrane type-1 2.|Helical; Name=12; (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.2955G>A	CCDS7484.1																																																																																				0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		6	181	0	0	0	0	6	181				
MGEA5	10724	broad.mit.edu	37	10	103558944	103558944	+	Silent	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:103558944A>C	ENST00000361464.3	-	9	1859	c.1464T>G	c.(1462-1464)gtT>gtG	p.V488V	MGEA5_ENST00000357797.5_Silent_p.V435V|MGEA5_ENST00000439817.1_Silent_p.V435V|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Silent_p.V488V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	488					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTTCGCTTCAACAATTTCAC	0.393																																						uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(1462-1464)GTT>GTG		meningioma expressed antigen 5 (hyaluronidase)							433.0	413.0	419.0					10																	103558944		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103558944A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1464T>G	10.37:g.103558944A>C						MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Silent_p.V435V|MGEA5_uc009xws.2_Silent_p.V435V|MGEA5_uc001ktw.2_Silent_p.V488V|MGEA5_uc009xwt.2_Silent_p.V251V	p.V488V	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1907	-		Colorectal(252;0.207)	488					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.1464T>G	CCDS7520.1																																																																																				0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		204	79	0	0	0	0	204	79				
NFKB2	4791	broad.mit.edu	37	10	104161253	104161253	+	Silent	SNP	C	C	A	rs370993988		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:104161253C>A	ENST00000369966.3	+	20	2521	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	NFKB2_ENST00000189444.6_Silent_p.P757P|NFKB2_ENST00000428099.1_Silent_p.P757P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	757			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TGGAGCCACCCCTGACCCCGC	0.597			T	IGH@	B-NHL																																	uc001kvb.2		NA		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(2269-2271)CCC>CCA		nuclear factor of kappa light polypeptide gene							55.0	65.0	62.0					10																	104161253		2098	4212	6310	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104161253C>A	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2271C>A	10.37:g.104161253C>A						NFKB2_uc001kva.2_Silent_p.P757P|NFKB2_uc001kvd.2_Silent_p.P757P|NFKB2_uc009xxc.2_Silent_p.P757P	p.P757P	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	20	2536	+		Colorectal(252;0.00957)	757		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).	ANK 7.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.2271C>A	CCDS41564.1																																																																																				0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			32	21	1	0	2.76e-19	3.52e-19	32	21				
SORCS1	114815	broad.mit.edu	37	10	108427560	108427560	+	Splice_Site	SNP	G	G	T	rs539985772	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:108427560G>T	ENST00000263054.6	-	17	2197	c.2190C>A	c.(2188-2190)tgC>tgA	p.C730*	SORCS1_ENST00000369698.1_Splice_Site_p.C265*|SORCS1_ENST00000344440.6_Splice_Site_p.C730*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	730					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCATAGTCGCTGTTAGGAA	0.453																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2188-2190)TGC>TGA		SORCS receptor 1 isoform a							55.0	50.0	51.0					10																	108427560		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427560G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2190-1C>A	10.37:g.108427560G>T						SORCS1_uc001kyl.2_Nonsense_Mutation_p.C730*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.C730*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.C730*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.C730*	p.C730*	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2198	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	730			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.2190C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328801	0.95733	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.49	-1.73	0.08081	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5198	0.50545	0.7394:0.0:0.2606:0.0	.	.	.	.	X	265;730;730	.	.	C	-	3	2	SORCS1	108417550	0.958000	0.32768	0.996000	0.52242	0.575000	0.36095	0.294000	0.19047	-0.242000	0.09667	-1.406000	0.01132	TGC		0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Nonsense_Mutation	21	4	1	0	2.32e-17	2.92e-17	21	4				
TCF7L2	6934	broad.mit.edu	37	10	114910775	114910775	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:114910775C>T	ENST00000355995.4	+	9	1401	c.894C>T	c.(892-894)gtC>gtT	p.V298V	TCF7L2_ENST00000369386.1_5'Flank|TCF7L2_ENST00000369389.1_Silent_p.V9V|TCF7L2_ENST00000543371.1_Silent_p.V298V|TCF7L2_ENST00000369397.4_Silent_p.V275V|TCF7L2_ENST00000545257.1_Silent_p.V298V|TCF7L2_ENST00000534894.1_Silent_p.V298V|TCF7L2_ENST00000542695.1_Silent_p.V14V|TCF7L2_ENST00000538897.1_Silent_p.V298V|TCF7L2_ENST00000352065.5_Silent_p.V275V|TCF7L2_ENST00000536810.1_Silent_p.V298V|TCF7L2_ENST00000355717.4_Silent_p.V322V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	298	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCATATGGTCCCACCACATC	0.473			T	VTI1A	colorectal																																	uc001lae.3		NA		Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					0				large_intestine(3)|ovary(1)	4						c.(892-894)GTC>GTT		transcription factor 7-like 2 isoform 1							178.0	143.0	155.0					10																	114910775		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114910775C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.894C>T	10.37:g.114910775C>T						TCF7L2_uc001lac.3_Silent_p.V275V|TCF7L2_uc010qrk.1_Silent_p.V275V|TCF7L2_uc010qrl.1_Silent_p.V275V|TCF7L2_uc010qrm.1_Silent_p.V298V|TCF7L2_uc010qrn.1_Silent_p.V241V|TCF7L2_uc001lad.3_Silent_p.V271V|TCF7L2_uc001lag.3_Silent_p.V322V|TCF7L2_uc001laf.3_Silent_p.V275V|TCF7L2_uc010qro.1_Silent_p.V275V|TCF7L2_uc001lah.2_Silent_p.V280V|TCF7L2_uc010qrp.1_Silent_p.V275V|TCF7L2_uc010qrq.1_Silent_p.V271V|TCF7L2_uc010qrr.1_Silent_p.V213V|TCF7L2_uc010qrs.1_Silent_p.V169V|TCF7L2_uc010qrt.1_Silent_p.V169V|TCF7L2_uc010qru.1_Silent_p.V197V|TCF7L2_uc010qrv.1_Silent_p.V115V|TCF7L2_uc010qrw.1_Silent_p.V2V|TCF7L2_uc010qrx.1_Silent_p.V155V	p.V298V	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	9	1401	+		Breast(234;0.058)|Colorectal(252;0.0615)	298			Mediates interaction with MAD2L2.|Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.894C>T																																																																																					0.473	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		59	19	0	0	0	0	59	19				
ATRNL1	26033	broad.mit.edu	37	10	117045743	117045743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:117045743G>T	ENST00000355044.3	+	15	2377	c.2251G>T	c.(2251-2253)Gga>Tga	p.G751*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	751	PSI 3.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTGGAGAAGGATGGAGTCA	0.313																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2251-2253)GGA>TGA		attractin-like 1 precursor							72.0	74.0	73.0					10																	117045743		2203	4299	6502	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117045743G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2251G>T	10.37:g.117045743G>T	ENSP00000347152:p.Gly751*						p.G751*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	15	2637	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	751			PSI 3.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.2251G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	41	9.086717	0.99061	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.1237	14.5329	0.67939	0.0721:0.0:0.9279:0.0	.	.	.	.	X	751	.	ENSP00000347152:G751X	G	+	1	0	ATRNL1	117035733	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.552000	0.82192	2.584000	0.87258	0.460000	0.39030	GGA		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		35	14	1	0	1.16e-17	1.45e-17	35	14				
FAM196A	642938	broad.mit.edu	37	10	128974408	128974408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:128974408G>T	ENST00000522781.1	-	4	807	c.252C>A	c.(250-252)taC>taA	p.Y84*	FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Y84*|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	84										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTATTTGCGGTAGGCTGCTC	0.607																																						uc001lju.1		NA																	0				ovary(2)	2						c.(250-252)TAC>TAA		hypothetical protein LOC642938							126.0	107.0	113.0					10																	128974408		2203	4300	6503	SO:0001587	stop_gained	642938							g.chr10:128974408G>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.252C>A	10.37:g.128974408G>T	ENSP00000429763:p.Tyr84*					DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Y84*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Y84*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Y84*	p.Y84*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	293	-			84					B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	c.252C>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	40	8.404663	0.98796	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	5.35	-4.95	0.03048	.	0.126553	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.635	0.76944	0.6817:0.0:0.3183:0.0	.	.	.	.	X	84	.	ENSP00000428730:Y84X	Y	-	3	2	FAM196A	128864398	0.179000	0.23135	0.019000	0.16419	0.915000	0.54546	-0.443000	0.06862	-1.379000	0.02118	0.563000	0.77884	TAC		0.607	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		68	22	1	0	1.56e-33	2.21e-33	68	22				
FRG2B	441581	broad.mit.edu	37	10	135438990	135438990	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:135438990C>T	ENST00000425520.1	-	4	502	c.450G>A	c.(448-450)agG>agA	p.R150R	FRG2B_ENST00000443774.1_Silent_p.R151R	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGTGCAAGCCCTGGAACGTC	0.527																																						uc010qvg.1		NA																	0					0						c.(448-450)AGG>AGA		FSHD region gene 2 family, member B							117.0	133.0	128.0					10																	135438990		2199	4299	6498	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135438990C>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.450G>A	10.37:g.135438990C>T							p.R150R	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	503	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	150					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.450G>A	CCDS44502.1																																																																																				0.527	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		11	178	0	0	0	0	11	178				
OR51F1	256892	broad.mit.edu	37	11	4790409	4790409	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:4790409C>A	ENST00000380383.1	-	1	759	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V247L			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTGCTCCCACATGGGAGACA	0.488																																						uc010qyl.1		NA																	0				ovary(1)|skin(1)	2						c.(739-741)GTG>TTG		olfactory receptor, family 51, subfamily F,							102.0	91.0	95.0					11																	4790409		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790409C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.760G>T	11.37:g.4790409C>A	ENSP00000369744:p.Val254Leu						p.V247L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	739	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	247						Missense_Mutation	SNP	ENST00000380383.1	37	c.739G>T		.	.	.	.	.	.	.	.	.	.	C	12.38	1.921983	0.33908	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.30981	1.51;1.51	5.24	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.364398	0.23084	N	0.052120	T	0.09291	0.0229	N	0.02158	-0.66	0.24198	N	0.995521	B	0.02656	0.0	B	0.08055	0.003	T	0.18241	-1.0343	10	0.48119	T	0.1	.	1.586	0.02644	0.1381:0.1564:0.1434:0.5621	.	254	A6NGY5	O51F1_HUMAN	L	247;254	ENSP00000345163:V247L;ENSP00000369744:V254L	ENSP00000345163:V247L	V	-	1	0	OR51F1	4746985	0.996000	0.38824	0.982000	0.44146	0.966000	0.64601	0.321000	0.19558	0.101000	0.17610	-0.290000	0.09829	GTG		0.488	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		49	23	1	0	4.11e-27	5.62e-27	49	23				
OR52B6	340980	broad.mit.edu	37	11	5602862	5602862	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:5602862C>A	ENST00000345043.2	+	1	756	c.756C>A	c.(754-756)gcC>gcA	p.A252A	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAAGATGCCCGCTCCAAGG	0.507																																						uc010qzi.1		NA																	0				ovary(1)	1						c.(754-756)GCC>GCA		olfactory receptor, family 52, subfamily B,							218.0	233.0	228.0					11																	5602862		2024	4177	6201	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602862C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.756C>A	11.37:g.5602862C>A						HBG2_uc001mak.1_Intron	p.A252A	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	756	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	252			Cytoplasmic (Potential).		Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.756C>A	CCDS41611.1																																																																																				0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		146	50	1	0	2.73e-46	4.05e-46	146	50				
DNHD1	144132	broad.mit.edu	37	11	6592373	6592373	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:6592373G>A	ENST00000527990.2	+	40	13631	c.13631G>A	c.(13630-13632)gGt>gAt	p.G4544D	DNHD1_ENST00000254579.6_Missense_Mutation_p.G4544D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4544					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGCCGGCCGGTCCGCAGCCG	0.706																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(13630-13632)GGT>GAT		dynein heavy chain domain 1 isoform 1							14.0	18.0	17.0					11																	6592373		2009	4143	6152	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592373G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13631G>A	11.37:g.6592373G>A	ENSP00000436180:p.Gly4544Asp					DNHD1_uc001mea.3_Missense_Mutation_p.G813D|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.G812D|DNHD1_uc010rao.1_Missense_Mutation_p.G802D|DNHD1_uc009yfg.2_Missense_Mutation_p.G169D	p.G4544D	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	14195	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4544					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13631G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519940	0.44866	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08102	3.13;3.13	4.47	3.53	0.40419	Dynein heavy chain (1);	0.392116	0.22510	N	0.059115	T	0.23492	0.0568	M	0.67953	2.075	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.992;0.998	T	0.01791	-1.1273	10	0.49607	T	0.09	-1.1952	9.7837	0.40664	0.0:0.0:0.7945:0.2054	.	3632;597;4544	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	D	4544;4544;812	ENSP00000254579:G4544D;ENSP00000436180:G4544D	ENSP00000254579:G4544D	G	+	2	0	DNHD1	6548949	0.875000	0.30112	0.002000	0.10522	0.293000	0.27360	3.190000	0.50973	1.184000	0.42957	0.557000	0.71058	GGT		0.706	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	3	0	0	0	0	12	3				
NLRP10	338322	broad.mit.edu	37	11	7982797	7982797	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:7982797T>C	ENST00000328600.2	-	2	523	c.362A>G	c.(361-363)tAc>tGc	p.Y121C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	121					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCTGGTTGTATCTGCCATT	0.557																																						uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(361-363)TAC>TGC		NLR family, pyrin domain containing 10							68.0	68.0	68.0					11																	7982797		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982797T>C	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.362A>G	11.37:g.7982797T>C	ENSP00000327763:p.Tyr121Cys						p.Y121C	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	379	-			121					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.362A>G	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319654	0.41096	.	.	ENSG00000182261	ENST00000328600	D	0.81499	-1.5	4.85	2.32	0.28847	.	0.642268	0.12981	N	0.423268	T	0.78978	0.4369	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.65957	-0.6042	10	0.62326	D	0.03	.	7.1172	0.25423	0.3648:0.0:0.0:0.6352	.	121	Q86W26	NAL10_HUMAN	C	121	ENSP00000327763:Y121C	ENSP00000327763:Y121C	Y	-	2	0	NLRP10	7939373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.318000	0.19504	0.957000	0.37930	-0.259000	0.10710	TAC		0.557	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		50	31	0	0	0	0	50	31				
FAR1	84188	broad.mit.edu	37	11	13716315	13716315	+	Start_Codon_SNP	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:13716315G>A	ENST00000354817.3	+	2	147	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	1					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GGATCAAAATGGTTTCAATCC	0.373																																						uc001mld.2		NA																	0				ovary(1)|skin(1)	2						c.(1-3)ATG>ATA		fatty acyl CoA reductase 1							87.0	78.0	81.0					11																	13716315		2200	4294	6494	SO:0001582	initiator_codon_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13716315G>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.3G>A	11.37:g.13716315G>A	ENSP00000346874:p.Met1Ile					FAR1_uc009ygp.2_Missense_Mutation_p.M1I	p.M1I	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			2	158	+			1					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.3G>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676228	0.88445	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.28895	2.01;1.59	5.46	5.46	0.80206	.	0.068739	0.85682	D	0.000000	T	0.48484	0.1502	.	.	.	0.80722	D	1	D;P	0.55172	0.97;0.897	P;P	0.53102	0.718;0.577	T	0.49908	-0.8889	9	0.66056	D	0.02	-15.0383	18.8824	0.92362	0.0:0.0:1.0:0.0	.	1;1	E7ETC1;Q8WVX9	.;FACR1_HUMAN	I	1	ENSP00000346874:M1I;ENSP00000437111:M1I	ENSP00000346874:M1I	M	+	3	0	FAR1	13672891	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.064000	0.93933	2.570000	0.86706	0.484000	0.47621	ATG		0.373	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228	Missense_Mutation	42	21	0	0	0	0	42	21				
ABTB2	25841	broad.mit.edu	37	11	34219030	34219030	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:34219030C>T	ENST00000435224.2	-	3	1510	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P176P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	362					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGCTGGCACCCGGGCACAGGG	0.672																																						uc001mvl.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(526-528)CCG>CCA		ankyrin repeat and BTB (POZ) domain containing							17.0	18.0	18.0					11																	34219030		2200	4292	6492	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34219030C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1086G>A	11.37:g.34219030C>T							p.P176P	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			3	758	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	176					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.528G>A	CCDS7890.2																																																																																				0.672	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		23	11	0	0	0	0	23	11				
LRRC4C	57689	broad.mit.edu	37	11	40136241	40136241	+	Silent	SNP	C	C	A	rs376625739		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:40136241C>A	ENST00000278198.2	-	2	3565	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	LRRC4C_ENST00000530763.1_Silent_p.V534V|LRRC4C_ENST00000528697.1_Silent_p.V534V|LRRC4C_ENST00000527150.1_Silent_p.V534V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	534					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGATGGCCACAAAACACC	0.463																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1600-1602)GTG>GTT		netrin-G1 ligand precursor		C		1,4405	2.1+/-5.4	0,1,2202	159.0	136.0	144.0		1602	4.1	1.0	11		144	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		534/641	40136241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136241C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1602G>T	11.37:g.40136241C>A						LRRC4C_uc001mxc.1_Silent_p.V530V|LRRC4C_uc001mxd.1_Silent_p.V530V|LRRC4C_uc001mxb.1_Silent_p.V530V	p.V534V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3566	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	534			Helical; (Potential).		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1602G>T	CCDS31464.1																																																																																				0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		61	16	1	0	1.75e-23	2.33e-23	61	16				
PHF21A	51317	broad.mit.edu	37	11	45970965	45970965	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:45970965G>A	ENST00000418153.2	-	12	1411	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	PHF21A_ENST00000323180.6_Silent_p.V405V|PHF21A_ENST00000257821.4_Silent_p.V405V|PHF21A_ENST00000527753.1_5'UTR			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	404					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTGGCTCAAAGACTGCTCCAC	0.458																																						uc001ncc.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1210-1212)GTC>GTT		BRAF35/HDAC2 complex isoform a							262.0	241.0	248.0					11																	45970965		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45970965G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1212C>T	11.37:g.45970965G>A						PHF21A_uc001ncb.3_Silent_p.V405V|PHF21A_uc009ykx.2_Silent_p.V405V|PHF21A_uc001nce.2_Silent_p.V405V|PHF21A_uc001nca.1_Silent_p.V140V	p.V404V	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			12	1836	-			404					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.1212C>T	CCDS44578.1																																																																																				0.458	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		103	540	0	0	0	0	103	540				
OR4C3	256144	broad.mit.edu	37	11	48347133	48347133	+	Missense_Mutation	SNP	G	G	T	rs139158085		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:48347133G>T	ENST00000319856.4	+	1	662	c.641G>T	c.(640-642)tGc>tTc	p.C214F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAAGTTGCCTGCACCAATACG	0.502																																						uc010rhv.1		NA																	0				skin(1)	1						c.(640-642)TGC>TTC		olfactory receptor, family 4, subfamily C,							226.0	167.0	187.0					11																	48347133		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347133G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.641G>T	11.37:g.48347133G>T	ENSP00000321419:p.Cys214Phe						p.C214F	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	641	+			187			Extracellular (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.641G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400433	0.62177	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00460	7.27	5.78	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.02418	0.0074	H	0.95114	3.625	0.49389	D	0.999781	D	0.89917	1.0	D	0.97110	1.0	T	0.09487	-1.0672	10	0.87932	D	0	.	12.888	0.58055	0.0789:0.0:0.9211:0.0	.	187	Q8NH37	OR4C3_HUMAN	F	214;77	ENSP00000321419:C214F	ENSP00000321419:C214F	C	+	2	0	OR4C3	48303709	1.000000	0.71417	0.990000	0.47175	0.642000	0.38348	7.510000	0.81708	1.493000	0.48517	0.478000	0.44815	TGC		0.502	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		60	91	1	0	2.45e-32	3.44e-32	60	91				
FOLH1	2346	broad.mit.edu	37	11	49197499	49197499	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49197499C>A	ENST00000256999.2	-	8	1191	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C	FOLH1_ENST00000343844.4_Missense_Mutation_p.G3C|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.G311C|FOLH1_ENST00000340334.7_Missense_Mutation_p.G296C|FOLH1_ENST00000533034.1_Missense_Mutation_p.G296C	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	311	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGTGCTGAGCCACCCATTTTT	0.393																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(931-933)GGC>TGC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						89.0	84.0	86.0					11																	49197499		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49197499C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.931G>T	11.37:g.49197499C>A	ENSP00000256999:p.Gly311Cys					FOLH1_uc001ngz.2_Missense_Mutation_p.G311C|FOLH1_uc009yly.2_Missense_Mutation_p.G296C|FOLH1_uc009ylz.2_Missense_Mutation_p.G296C|FOLH1_uc009yma.2_Missense_Mutation_p.G3C	p.G311C	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			8	1192	-			311			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.931G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896811	0.52121	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.61040	0.51;0.51;0.51;0.14;0.51	4.04	4.04	0.47022	.	0.000000	0.56097	D	0.000023	D	0.83248	0.5213	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.999;0.99	D	0.88155	0.2853	10	0.87932	D	0	.	11.5603	0.50772	0.0:1.0:0.0:0.0	.	296;296;311;311	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	C	311;311;296;3;296;311	ENSP00000256999:G311C;ENSP00000349129:G311C;ENSP00000344131:G296C;ENSP00000344086:G3C;ENSP00000431463:G296C	ENSP00000256999:G311C	G	-	1	0	FOLH1	49154075	1.000000	0.71417	0.589000	0.28718	0.478000	0.33099	6.262000	0.72514	2.072000	0.62099	0.543000	0.68304	GGC		0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		62	88	1	0	8.53e-23	1.13e-22	62	88				
FOLH1	2346	broad.mit.edu	37	11	49207359	49207359	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49207359C>G	ENST00000256999.2	-	6	948	c.688G>C	c.(688-690)Gac>Cac	p.D230H	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.D230H|FOLH1_ENST00000340334.7_Missense_Mutation_p.D215H|FOLH1_ENST00000533034.1_Missense_Mutation_p.D215H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	230					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TCAGCAGGGTCGGAGTAGAGA	0.458																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(688-690)GAC>CAC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						57.0	64.0	61.0					11																	49207359		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207359C>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.688G>C	11.37:g.49207359C>G	ENSP00000256999:p.Asp230His					FOLH1_uc001ngz.2_Missense_Mutation_p.D230H|FOLH1_uc009yly.2_Missense_Mutation_p.D215H|FOLH1_uc009ylz.2_Missense_Mutation_p.D215H|FOLH1_uc009yma.2_Intron	p.D230H	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			6	949	-			230			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.688G>C	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973455	0.53614	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	3.01	3.01	0.34805	Protease-associated domain, PA (1);	0.000000	0.53938	D	0.000056	T	0.76321	0.3971	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82200	-0.0575	10	0.87932	D	0	.	11.8829	0.52586	0.0:1.0:0.0:0.0	.	215;215;230;230	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	230;230;215;215;230	ENSP00000256999:D230H;ENSP00000349129:D230H;ENSP00000344131:D215H;ENSP00000431463:D215H	ENSP00000256999:D230H	D	-	1	0	FOLH1	49163935	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	5.974000	0.70465	1.723000	0.51488	0.400000	0.26472	GAC		0.458	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		28	53	0	0	0	0	28	53				
OR8K5	219453	broad.mit.edu	37	11	55927730	55927730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55927730C>T	ENST00000313447.1	-	1	63	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453																																						uc010rja.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(64-66)GAG>AAG		olfactory receptor, family 8, subfamily K,							132.0	128.0	129.0					11																	55927730		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927730C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.64G>A	11.37:g.55927730C>T	ENSP00000323853:p.Glu22Lys						p.E22K	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	64	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	22			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.64G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.674092	0.14841	.	.	ENSG00000181752	ENST00000313447	T	0.00441	7.41	3.87	3.87	0.44632	.	.	.	.	.	T	0.00328	0.0010	L	0.46157	1.445	0.09310	N	1	B	0.25390	0.125	B	0.19391	0.025	T	0.45687	-0.9244	9	0.59425	D	0.04	.	6.3167	0.21194	0.0:0.7039:0.1904:0.1057	.	22	Q8NH50	OR8K5_HUMAN	K	22	ENSP00000323853:E22K	ENSP00000323853:E22K	E	-	1	0	OR8K5	55684306	0.000000	0.05858	0.436000	0.26797	0.039000	0.13416	-0.268000	0.08607	2.151000	0.67156	0.560000	0.71715	GAG		0.453	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		75	120	0	0	0	0	75	120				
OR5J2	282775	broad.mit.edu	37	11	55944604	55944604	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55944604C>T	ENST00000312298.1	+	1	511	c.511C>T	c.(511-513)Cta>Tta	p.L171L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTTTTGTAGGCTAAATGCTGT	0.438																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(511-513)CTA>TTA		olfactory receptor, family 5, subfamily J,							170.0	146.0	154.0					11																	55944604		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944604C>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.511C>T	11.37:g.55944604C>T							p.L171L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	511	+	Esophageal squamous(21;0.00693)		171			Extracellular (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.511C>T	CCDS31522.1																																																																																				0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		73	114	0	0	0	0	73	114				
OR5M8	219484	broad.mit.edu	37	11	56258412	56258412	+	Silent	SNP	C	C	A	rs147351186	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56258412C>A	ENST00000327216.2	-	1	459	c.435G>T	c.(433-435)acG>acT	p.T145T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CATAAGGCACCGTGATGAGGA	0.517																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(433-435)ACG>ACT		olfactory receptor, family 5, subfamily M,							93.0	82.0	86.0					11																	56258412		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258412C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.435G>T	11.37:g.56258412C>A							p.T145T	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	435	-	Esophageal squamous(21;0.00352)		145			Helical; Name=4; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.435G>T	CCDS31533.1																																																																																				0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		43	83	1	0	6.53e-18	8.25e-18	43	83				
OR5M10	390167	broad.mit.edu	37	11	56344286	56344286	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56344286C>T	ENST00000526812.2	-	1	977	c.912G>A	c.(910-912)atG>atA	p.M304I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCCCCTAATCATTTGTTGTA	0.373																																						uc001niz.1		NA																	0					0						c.(910-912)ATG>ATA		olfactory receptor, family 5, subfamily M,							165.0	164.0	164.0					11																	56344286		1828	4083	5911	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344286C>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.912G>A	11.37:g.56344286C>T	ENSP00000436004:p.Met304Ile						p.M304I	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	912	-			304			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.912G>A	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	3.558	-0.090277	0.07053	.	.	ENSG00000254834	ENST00000526812	T	0.35789	1.29	4.11	-1.47	0.08772	.	.	.	.	.	T	0.12475	0.0303	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.08837	T	0.75	.	3.176	0.06569	0.4206:0.2708:0.0:0.3086	.	304	Q6IEU7	OR5MA_HUMAN	I	304	ENSP00000436004:M304I	ENSP00000436004:M304I	M	-	3	0	OR5M10	56100862	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-2.491000	0.00974	-0.388000	0.07797	-0.262000	0.10625	ATG		0.373	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		159	217	0	0	0	0	159	217				
PRG2	5553	broad.mit.edu	37	11	57156719	57156719	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57156719G>T	ENST00000311862.5	-	3	203	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	PRG2_ENST00000525955.1_Missense_Mutation_p.Q44K|PRG2_ENST00000533605.1_Missense_Mutation_p.Q44K|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.Q149K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	44					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	TCCATCTCCTGCTCTGGTGTC	0.562																																						uc001njz.2		NA																	0				central_nervous_system(1)	1						c.(130-132)CAG>AAG		proteoglycan 2 preproprotein	Sargramostim(DB00020)						77.0	77.0	77.0					11																	57156719		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156719G>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.130C>A	11.37:g.57156719G>T	ENSP00000312134:p.Gln44Lys					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.Q44K|PRG2_uc001nkb.2_Missense_Mutation_p.Q44K|PRG2_uc001nkd.2_Missense_Mutation_p.Q44K|PRG2_uc001nkc.2_Missense_Mutation_p.Q44K|PRG2_uc001nke.2_Missense_Mutation_p.Q324K	p.Q44K	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	157	-			44					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.130C>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066648	0.20067	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.37235	2.99;2.75;2.99;1.21	4.75	-1.84	0.07809	.	2.076750	0.02451	N	0.085587	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	B;B	0.26809	0.16;0.16	B;B	0.23275	0.045;0.045	T	0.18681	-1.0329	10	0.33141	T	0.24	-7.8909	7.7533	0.28909	0.0:0.2308:0.5803:0.1889	.	44;44	A6XMW0;P13727	.;PRG2_HUMAN	K	44;44;44;149	ENSP00000312134:Q44K;ENSP00000433231:Q44K;ENSP00000433016:Q44K;ENSP00000431536:Q149K	ENSP00000312134:Q44K	Q	-	1	0	RP11-872D17.8;PRG2	56913295	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.512000	0.06313	-0.095000	0.12351	0.655000	0.94253	CAG		0.562	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		74	86	1	0	4.61e-44	6.8e-44	74	86				
CTNND1	1500	broad.mit.edu	37	11	57569636	57569636	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57569636C>A	ENST00000399050.4	+	7	1924	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	CTNND1_ENST00000529986.1_Missense_Mutation_p.A362D|CTNND1_ENST00000527467.1_Missense_Mutation_p.A140D|CTNND1_ENST00000530094.1_Missense_Mutation_p.A362D|CTNND1_ENST00000530748.1_Missense_Mutation_p.A409D|CTNND1_ENST00000532245.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529526.1_Missense_Mutation_p.A409D|CTNND1_ENST00000524630.1_Missense_Mutation_p.A463D|CTNND1_ENST00000361332.4_Missense_Mutation_p.A463D|CTNND1_ENST00000426142.2_Missense_Mutation_p.A362D|CTNND1_ENST00000534579.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526357.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526772.1_Missense_Mutation_p.A140D|CTNND1_ENST00000360682.6_Missense_Mutation_p.A463D|CTNND1_ENST00000415361.2_Missense_Mutation_p.A362D|CTNND1_ENST00000361796.4_Missense_Mutation_p.A463D|CTNND1_ENST00000526938.1_Missense_Mutation_p.A463D|CTNND1_ENST00000525902.1_Missense_Mutation_p.A140D|CTNND1_ENST00000532649.1_Missense_Mutation_p.A409D|CTNND1_ENST00000528621.1_Missense_Mutation_p.A409D|CTNND1_ENST00000531014.1_Missense_Mutation_p.A140D|CTNND1_ENST00000399039.4_Missense_Mutation_p.A463D|CTNND1_ENST00000428599.2_Missense_Mutation_p.A463D|CTNND1_ENST00000532463.1_Missense_Mutation_p.A362D|CTNND1_ENST00000532787.1_Missense_Mutation_p.A362D|CTNND1_ENST00000533667.1_Missense_Mutation_p.A140D|CTNND1_ENST00000528232.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529919.1_Missense_Mutation_p.A463D|CTNND1_ENST00000358694.6_Missense_Mutation_p.A463D|CTNND1_ENST00000529873.1_Missense_Mutation_p.A409D|CTNND1_ENST00000532844.1_Missense_Mutation_p.A409D|CTNND1_ENST00000361391.6_Missense_Mutation_p.A463D	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	463					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGAAAGGCTCGTGATATG	0.443																																						uc001nmc.3		NA																	0				breast(4)|ovary(1)|kidney(1)	6						c.(1387-1389)GCT>GAT		catenin, delta 1 isoform 1ABC							259.0	248.0	251.0					11																	57569636		1978	4160	6138	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569636C>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1388C>A	11.37:g.57569636C>A	ENSP00000382004:p.Ala463Asp					CTNND1_uc001nlh.1_Missense_Mutation_p.A463D|CTNND1_uc001nlu.3_Missense_Mutation_p.A362D|CTNND1_uc001nlt.3_Missense_Mutation_p.A362D|CTNND1_uc001nls.3_Missense_Mutation_p.A362D|CTNND1_uc001nlw.3_Missense_Mutation_p.A362D|CTNND1_uc001nmf.3_Missense_Mutation_p.A463D|CTNND1_uc001nmd.3_Missense_Mutation_p.A409D|CTNND1_uc001nlk.3_Missense_Mutation_p.A409D|CTNND1_uc001nme.3_Missense_Mutation_p.A463D|CTNND1_uc001nll.3_Missense_Mutation_p.A409D|CTNND1_uc001nmg.3_Missense_Mutation_p.A409D|CTNND1_uc001nlj.3_Missense_Mutation_p.A409D|CTNND1_uc001nlr.3_Missense_Mutation_p.A409D|CTNND1_uc001nlp.3_Missense_Mutation_p.A409D|CTNND1_uc001nlx.3_Missense_Mutation_p.A140D|CTNND1_uc001nlz.3_Missense_Mutation_p.A140D|CTNND1_uc009ymn.2_Missense_Mutation_p.A140D|CTNND1_uc001nlm.3_Missense_Mutation_p.A463D|CTNND1_uc001nly.3_Missense_Mutation_p.A140D|CTNND1_uc001nmb.3_Missense_Mutation_p.A140D|CTNND1_uc001nma.3_Missense_Mutation_p.A140D|CTNND1_uc001nmi.3_Missense_Mutation_p.A362D|CTNND1_uc001nmh.3_Missense_Mutation_p.A463D|CTNND1_uc001nlq.3_Missense_Mutation_p.A362D|CTNND1_uc001nln.3_Missense_Mutation_p.A463D|CTNND1_uc001nli.3_Missense_Mutation_p.A463D|CTNND1_uc001nlo.3_Missense_Mutation_p.A362D|CTNND1_uc001nlv.3_Missense_Mutation_p.A362D	p.A463D	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1959	+		all_epithelial(135;0.155)	463			ARM 3.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1388C>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661916	0.67700	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.111909	0.64402	D	0.000013	T	0.62221	0.2410	L	0.34521	1.04	0.40144	D	0.976863	P;P;P;B;B;B;P;P;P	0.48230	0.634;0.634;0.684;0.435;0.435;0.435;0.907;0.634;0.684	B;B;B;B;B;B;P;B;B	0.46585	0.215;0.215;0.322;0.107;0.107;0.107;0.521;0.215;0.322	T	0.68081	-0.5503	10	0.72032	D	0.01	-4.2342	14.311	0.66416	0.0:0.8513:0.1486:0.0	.	463;463;463;362;409;409;463;463;463	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	D	463;463;463;463;463;409;362;463;463;463;362;362;463;362;140;409;409;409;463;140;362;140;140;409;140;409;409;362;362;362;409;463	ENSP00000436543:A463D;ENSP00000434808:A463D;ENSP00000381996:A463D;ENSP00000353902:A463D;ENSP00000354907:A463D;ENSP00000436323:A409D;ENSP00000409930:A362D;ENSP00000382004:A463D;ENSP00000354785:A463D;ENSP00000354823:A463D;ENSP00000432075:A362D;ENSP00000437156:A362D;ENSP00000351527:A463D;ENSP00000434949:A362D;ENSP00000437051:A140D;ENSP00000435379:A409D;ENSP00000432243:A409D;ENSP00000436744:A409D;ENSP00000413586:A463D;ENSP00000434900:A140D;ENSP00000435266:A362D;ENSP00000432623:A140D;ENSP00000433158:A140D;ENSP00000435494:A409D;ENSP00000434672:A140D;ENSP00000433276:A409D;ENSP00000433334:A409D;ENSP00000437327:A362D;ENSP00000403518:A362D;ENSP00000434017:A362D;ENSP00000435789:A409D;ENSP00000432041:A463D	ENSP00000351527:A463D	A	+	2	0	CTNND1	57326212	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.656000	0.67988	2.561000	0.86390	0.557000	0.71058	GCT		0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		160	294	1	0	2.83e-50	4.24e-50	160	294				
OR5AN1	390195	broad.mit.edu	37	11	59132216	59132216	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59132216T>C	ENST00000313940.2	+	1	332	c.285T>C	c.(283-285)ttT>ttC	p.F95F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTATCACTTTTGTTGGTTGTA	0.423																																						uc010rks.1		NA																	0				ovary(1)	1						c.(283-285)TTT>TTC		olfactory receptor, family 5, subfamily AN,							185.0	174.0	178.0					11																	59132216		2201	4295	6496	SO:0001819	synonymous_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132216T>C	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.285T>C	11.37:g.59132216T>C							p.F95F	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	285	+			95			Extracellular (Potential).		B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	c.285T>C	CCDS31559.1																																																																																				0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		158	229	0	0	0	0	158	229				
OR5A2	219981	broad.mit.edu	37	11	59189575	59189576	+	Missense_Mutation	DNP	GG	GG	TT	rs150394868		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59189575_59189576GG>TT	ENST00000302040.4	-	1	873_874	c.851_852CC>AA	c.(850-852)cCC>cAA	p.P284Q		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATTCACCACGGGGATCACCAA	0.475																																						uc010rkt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)CCC>CAA		olfactory receptor, family 5, subfamily A,																																				SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189575_59189576GG>TT	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.851_852delinsTT	11.37:g.59189575_59189576delinsTT	ENSP00000303834:p.Pro284Gln						p.P284Q	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	851_852	-			284			Helical; Name=7; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	DNP	ENST00000302040.4	37	c.851_852CC>AA	CCDS31560.1																																																																																				0.475	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		55	66	0	0	0	0	55	66				
SLC15A3	51296	broad.mit.edu	37	11	60718768	60718768	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:60718768G>A	ENST00000227880.3	-	1	489	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	86					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						ACGGGCGCCAGCAGGTAGGAG	0.716																																						uc001nqn.2		NA																	0					0						c.(256-258)CTG>TTG		solute carrier family 15, member 3							4.0	4.0	4.0					11																	60718768		1803	3656	5459	SO:0001819	synonymous_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60718768G>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.256C>T	11.37:g.60718768G>A						SLC15A3_uc001nqo.2_Silent_p.L86L	p.L86L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			1	490	-			86			Helical; (Potential).		Q9P2X9	Silent	SNP	ENST00000227880.3	37	c.256C>T	CCDS7998.1																																																																																				0.716	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		4	4	0	0	0	0	4	4				
SCGB2A1	4246	broad.mit.edu	37	11	61977990	61977990	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:61977990C>T	ENST00000244930.4	+	2	225	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	54					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GACAGTGATGCCGCTGCAGAG	0.428																																						uc001nta.2		NA																	0					0						c.(160-162)GCC>GTC		secretoglobin, family 2A, member 1 precursor							115.0	115.0	115.0					11																	61977990		2202	4299	6501	SO:0001583	missense	4246					extracellular region	androgen binding	g.chr11:61977990C>T	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.161C>T	11.37:g.61977990C>T	ENSP00000244930:p.Ala54Val						p.A54V	NM_002407	NP_002398	O75556	SG2A1_HUMAN			2	225	+			54						Missense_Mutation	SNP	ENST00000244930.4	37	c.161C>T	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	C	8.777	0.927223	0.18056	.	.	ENSG00000124939	ENST00000244930	T	0.15017	2.46	3.54	-7.08	0.01558	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	B	0.29909	0.261	B	0.23716	0.048	T	0.36529	-0.9744	8	0.14252	T	0.57	.	0.6175	0.00772	0.3605:0.1711:0.1189:0.3496	.	54	O75556	SG2A1_HUMAN	V	54	ENSP00000244930:A54V	ENSP00000244930:A54V	A	+	2	0	SCGB2A1	61734566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.767000	0.00371	-1.757000	0.01316	-1.105000	0.02106	GCC		0.428	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		5	250	0	0	0	0	5	250				
POLR2G	5436	broad.mit.edu	37	11	62533149	62533149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:62533149G>T	ENST00000301788.7	+	6	529	c.424G>T	c.(424-426)Gag>Tag	p.E142*		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	142					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						GCAGGACGATGAGATCCGCTT	0.468																																						uc001nva.2		NA																	0					0						c.(424-426)GAG>TAG		DNA directed RNA polymerase II polypeptide G							176.0	155.0	162.0					11																	62533149		2202	4299	6501	SO:0001587	stop_gained	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62533149G>T	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.424G>T	11.37:g.62533149G>T	ENSP00000301788:p.Glu142*					POLR2G_uc001nvb.2_RNA	p.E142*	NM_002696	NP_002687	P62487	RPB7_HUMAN			6	534	+			142					B2R5C0|P52433|Q2M1Z4	Nonsense_Mutation	SNP	ENST00000301788.7	37	c.424G>T	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986240	0.93044	.	.	ENSG00000168002	ENST00000301788	.	.	.	5.6	5.6	0.85130	.	0.098051	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-18.2341	17.1039	0.86657	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000301788:E142X	E	+	1	0	POLR2G	62289725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.325000	0.90007	2.642000	0.89623	0.563000	0.77884	GAG		0.468	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		67	100	1	0	3.41e-29	4.72e-29	67	100				
ATG2A	23130	broad.mit.edu	37	11	64668018	64668018	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:64668018T>C	ENST00000377264.3	-	31	4524	c.4412A>G	c.(4411-4413)cAg>cGg	p.Q1471R	ATG2A_ENST00000421419.2_Missense_Mutation_p.Q1473R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1471					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGCCCCCCTGCGTGCGCCA	0.642																																						uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4411-4413)CAG>CGG		autophagy related 2A							53.0	57.0	56.0					11																	64668018		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64668018T>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4412A>G	11.37:g.64668018T>C	ENSP00000366475:p.Gln1471Arg					ATG2A_uc001obw.2_Missense_Mutation_p.Q236R	p.Q1471R	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			31	4527	-			1471					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4412A>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.640984	0.29157	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06142	3.35;3.34	4.7	3.55	0.40652	.	0.438058	0.23545	N	0.047026	T	0.07098	0.0180	N	0.26042	0.785	0.31556	N	0.658109	P;D	0.56035	0.956;0.974	P;P	0.53861	0.549;0.736	T	0.04216	-1.0968	10	0.07990	T	0.79	.	8.0509	0.30577	0.0:0.1035:0.0:0.8965	.	1471;1473	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	R	1473;1471	ENSP00000410522:Q1473R;ENSP00000366475:Q1471R	ENSP00000366475:Q1471R	Q	-	2	0	ATG2A	64424594	1.000000	0.71417	0.907000	0.35723	0.893000	0.52053	1.928000	0.40104	0.909000	0.36697	0.459000	0.35465	CAG		0.642	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		69	102	0	0	0	0	69	102				
AP5B1	91056	broad.mit.edu	37	11	65546371	65546371	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:65546371C>G	ENST00000532090.2	-	2	1803	c.1593G>C	c.(1591-1593)ccG>ccC	p.P531P		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	531					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						CATCCCTGCCCGGCCTGGACA	0.607																																						uc001ofo.3		NA																	0					0						c.(1420-1422)CCG>CCC		hypothetical protein LOC91056							23.0	27.0	26.0					11																	65546371		2075	4216	6291	SO:0001819	synonymous_variant	91056						protein binding	g.chr11:65546371C>G	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1593G>C	11.37:g.65546371C>G							p.P474P	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	1452	-			474					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	c.1422G>C	CCDS58146.1																																																																																				0.607	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		14	14	0	0	0	0	14	14				
RIN1	9610	broad.mit.edu	37	11	66103108	66103108	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:66103108T>A	ENST00000311320.4	-	4	554	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	RIN1_ENST00000530056.1_Missense_Mutation_p.Q38L|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.Q38L|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	143	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ACAGATGAGCTGGACTAGGTC	0.642																																						uc001ohn.1		NA																	0				lung(2)|breast(1)	3						c.(427-429)CAG>CTG		ras inhibitor RIN1							49.0	47.0	48.0					11																	66103108		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66103108T>A	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.428A>T	11.37:g.66103108T>A	ENSP00000310406:p.Gln143Leu					RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.Q38L|RIN1_uc010rpa.1_Missense_Mutation_p.Q38L	p.Q143L	NM_004292	NP_004283	Q13671	RIN1_HUMAN			4	555	-			143			SH2.		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.428A>T	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010127	0.54361	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.44083	0.93;1.49;1.49	4.33	4.33	0.51752	SH2 motif (3);	0.741155	0.12230	N	0.487552	T	0.27134	0.0665	N	0.19112	0.55	0.35575	D	0.805798	B;B	0.30482	0.281;0.089	B;B	0.24006	0.05;0.038	T	0.28490	-1.0042	10	0.37606	T	0.19	-15.2235	10.2118	0.43145	0.0:0.0:0.0:1.0	.	38;143	E9PNR2;Q13671	.;RIN1_HUMAN	L	143;38;38	ENSP00000310406:Q143L;ENSP00000400560:Q38L;ENSP00000432798:Q38L	ENSP00000310406:Q143L	Q	-	2	0	RIN1	65859684	0.610000	0.26983	1.000000	0.80357	0.946000	0.59487	0.832000	0.27490	1.742000	0.51746	0.379000	0.24179	CAG		0.642	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		19	20	0	0	0	0	19	20				
SHANK2	22941	broad.mit.edu	37	11	70333064	70333064	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:70333064C>A	ENST00000423696.2	-	15	2233	c.2197G>T	c.(2197-2199)Gtg>Ttg	p.V733L	SHANK2_ENST00000449833.2_Missense_Mutation_p.V517L|SHANK2_ENST00000338508.4_Missense_Mutation_p.V1113L|SHANK2_ENST00000409161.1_Missense_Mutation_p.V516L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	733					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCAGGCCCACATCCTCATCC	0.692																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3334-3336)GTG>TTG		SH3 and multiple ankyrin repeat domains 2							19.0	24.0	23.0					11																	70333064		2180	4266	6446	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333064C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2197G>T	11.37:g.70333064C>A	ENSP00000394536:p.Val733Leu					SHANK2_uc010rqn.1_Missense_Mutation_p.V524L|SHANK2_uc001opz.2_Missense_Mutation_p.V517L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.V1112L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3412	-			733					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3334G>T		.	.	.	.	.	.	.	.	.	.	C	16.02	3.003781	0.54254	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	4.88	4.88	0.63580	.	.	.	.	.	T	0.66446	0.2790	M	0.70595	2.14	0.80722	D	1	B;D;B	0.64830	0.013;0.994;0.021	B;D;B	0.63033	0.024;0.91;0.103	T	0.68622	-0.5360	9	0.48119	T	0.1	.	18.0342	0.89294	0.0:1.0:0.0:0.0	.	733;1112;517	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	517;516;391;1113;733;751;736	ENSP00000399423:V517L;ENSP00000386491:V516L;ENSP00000402944:V391L;ENSP00000345193:V1113L;ENSP00000394536:V733L;ENSP00000294018:V736L	ENSP00000294018:V736L	V	-	1	0	SHANK2	70010712	0.970000	0.33590	1.000000	0.80357	0.956000	0.61745	1.784000	0.38674	2.261000	0.74972	0.561000	0.74099	GTG		0.692	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		38	846	1	0	5.44e-19	6.93e-19	38	846				
MAP6	4135	broad.mit.edu	37	11	75319187	75319187	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:75319187G>C	ENST00000304771.3	-	2	1836	c.1086C>G	c.(1084-1086)agC>agG	p.S362R	MAP6_ENST00000526740.1_Missense_Mutation_p.S33R|MAP6_ENST00000434603.2_Missense_Mutation_p.S362R	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	362	Calmodulin-binding. {ECO:0000250}.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CGCTGTAGAGGCTGCGTATTC	0.512																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NA																	0					0						c.(1084-1086)AGC>AGG		microtubule-associated protein 6 isoform 1							182.0	161.0	168.0					11																	75319187		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75319187G>C	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1086C>G	11.37:g.75319187G>C	ENSP00000307093:p.Ser362Arg					MAP6_uc001owv.2_Missense_Mutation_p.S362R	p.S362R	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			2	1151	-	Ovarian(111;0.11)		362			Calmodulin-binding (By similarity).		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1086C>G	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886626	0.72410	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.60548	0.18;0.39	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000017	T	0.72317	0.3445	M	0.70275	2.135	0.35499	D	0.799679	D	0.89917	1.0	D	0.74023	0.982	T	0.79600	-0.1736	10	0.59425	D	0.04	-15.1362	10.7794	0.46369	0.0856:0.0:0.9144:0.0	.	362	Q96JE9	MAP6_HUMAN	R	362;33;33;362	ENSP00000307093:S362R;ENSP00000415108:S362R	ENSP00000307093:S362R	S	-	3	2	MAP6	74996835	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.914000	0.39966	2.691000	0.91804	0.650000	0.86243	AGC		0.512	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		56	25	0	0	0	0	56	25				
GRM5	2915	broad.mit.edu	37	11	88781022	88781022	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:88781022G>A	ENST00000305447.4	-	1	168	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GRM5_ENST00000393294.3_Silent_p.L7L|GRM5_ENST00000393297.1_Silent_p.L7L|GRM5_ENST00000418177.2_Silent_p.L7L|GRM5_ENST00000455756.2_Silent_p.L7L|GRM5_ENST00000305432.5_Silent_p.L7L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	7					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAGACTGACAGGATCAACAGA	0.473																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(19-21)CTG>TTG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						47.0	45.0	46.0					11																	88781022		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88781022G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.19C>T	11.37:g.88781022G>A						GRM5_uc009yvm.2_Silent_p.L7L|GRM5_uc009yvn.1_Silent_p.L7L	p.L7L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	219	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	7					Q6J164	Silent	SNP	ENST00000305447.4	37	c.19C>T	CCDS44694.1																																																																																				0.473	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		23	16	0	0	0	0	23	16				
MTNR1B	4544	broad.mit.edu	37	11	92714792	92714792	+	Missense_Mutation	SNP	G	G	C	rs367759317		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:92714792G>C	ENST00000257068.2	+	2	409	c.403G>C	c.(403-405)Gcc>Ccc	p.A135P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	135					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CACTGCCATCGCCATTAACCG	0.597																																						uc001pdk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(403-405)GCC>CCC		melatonin receptor 1B	Ramelteon(DB00980)						136.0	120.0	125.0					11																	92714792		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714792G>C	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.403G>C	11.37:g.92714792G>C	ENSP00000257068:p.Ala135Pro						p.A135P	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	506	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	135			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.403G>C	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197277	0.58126	.	.	ENSG00000134640	ENST00000257068	T	0.77750	-1.12	3.97	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	H	0.98155	4.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93287	0.6665	10	0.87932	D	0	-25.698	12.112	0.53844	0.0846:0.0:0.9154:0.0	.	135	P49286	MTR1B_HUMAN	P	135	ENSP00000257068:A135P	ENSP00000257068:A135P	A	+	1	0	MTNR1B	92354440	1.000000	0.71417	0.992000	0.48379	0.586000	0.36452	6.920000	0.75799	1.025000	0.39708	-0.424000	0.05967	GCC		0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			48	11	0	0	0	0	48	11				
MMP10	4319	broad.mit.edu	37	11	102647451	102647451	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102647451G>A	ENST00000279441.4	-	5	715	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	227					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TTGGCTGAGTGAAAGAGCCCC	0.463																																						uc001phg.1		NA																	0				kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(679-681)CAC>TAC		matrix metalloproteinase 10 preproprotein							123.0	119.0	120.0					11																	102647451		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647451G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.679C>T	11.37:g.102647451G>A	ENSP00000279441:p.His227Tyr						p.H227Y	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	701	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	227				Zinc 2; catalytic.	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.679C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	15.66	2.900502	0.52227	.	.	ENSG00000166670	ENST00000279441	T	0.66995	-0.24	4.31	3.38	0.38709	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.268705	0.26272	N	0.025331	D	0.89996	0.6877	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94026	0.7297	10	0.87932	D	0	.	14.5198	0.67842	0.0:0.1477:0.8523:0.0	.	227	P09238	MMP10_HUMAN	Y	227	ENSP00000279441:H227Y	ENSP00000279441:H227Y	H	-	1	0	MMP10	102152661	1.000000	0.71417	0.146000	0.22360	0.259000	0.26198	7.372000	0.79612	1.122000	0.41944	0.655000	0.94253	CAC		0.463	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			61	22	0	0	0	0	61	22				
MMP12	4321	broad.mit.edu	37	11	102742585	102742585	+	RNA	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102742585T>A	ENST00000532855.1	-	0	544							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTAATCTTGCTGAATTTCAAG	0.418																																						uc001phk.2		NA																	0					0						c.(448-450)AGC>TGC		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						81.0	79.0	80.0					11																	102742585		1893	4135	6028			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742585T>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742585T>A							p.S150C	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	3	493	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	150					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.448A>T																																																																																					0.418	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		30	2	0	0	0	0	30	2				
ATM	472	broad.mit.edu	37	11	108213984	108213984	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:108213984A>G	ENST00000452508.2	+	58	8493	c.8304A>G	c.(8302-8304)gaA>gaG	p.E2768E	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.E2768E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2768	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTGTTCTTGAATGGTGCACAG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8302-8304)GAA>GAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							169.0	156.0	161.0					11																	108213984		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108213984A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8304A>G	11.37:g.108213984A>G		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.E2768E|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.E1420E	p.E2768E	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8689	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2768			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8304A>G	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		158	56	0	0	0	0	158	56				
NNMT	4837	broad.mit.edu	37	11	114168790	114168790	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:114168790T>A	ENST00000535401.1	+	4	536	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'Flank|NNMT_ENST00000299964.3_Missense_Mutation_p.L91Q|NNMT_ENST00000542647.1_5'Flank			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	91					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GACCAGAACCTGCAGGAGCTG	0.517																																						uc001por.1		NA																	0				ovary(1)	1						c.(271-273)CTG>CAG		nicotinamide N-methyltransferase	Niacin(DB00627)						151.0	154.0	153.0					11																	114168790		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114168790T>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.272T>A	11.37:g.114168790T>A	ENSP00000441434:p.Leu91Gln					NNMT_uc001pos.1_Missense_Mutation_p.L91Q	p.L91Q	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	536	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	91						Missense_Mutation	SNP	ENST00000535401.1	37	c.272T>A	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687577	0.68157	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.14893	2.47;2.47	5.53	3.03	0.35002	.	0.099482	0.34046	N	0.004306	T	0.26085	0.0636	M	0.74881	2.28	0.80722	D	1	P	0.48294	0.908	P	0.48030	0.564	T	0.03231	-1.1058	10	0.42905	T	0.14	-15.3638	10.5583	0.45131	0.0:0.0:0.4625:0.5375	.	91	P40261	NNMT_HUMAN	Q	91	ENSP00000441434:L91Q;ENSP00000299964:L91Q	ENSP00000299964:L91Q	L	+	2	0	NNMT	113674000	0.975000	0.34042	0.823000	0.32752	0.911000	0.54048	1.652000	0.37313	0.911000	0.36747	0.455000	0.32223	CTG		0.517	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		73	24	0	0	0	0	73	24				
TMPRSS13	84000	broad.mit.edu	37	11	117785164	117785164	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:117785164C>T	ENST00000430170.2	-	4	709	c.622G>A	c.(622-624)Gct>Act	p.A208T	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A208T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A173T|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A208T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	208	LDL-receptor class A.|SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CAGCGAACAGCGTGCTTGGGA	0.617																																						uc001prs.1		NA																	0				pancreas(1)	1						c.(622-624)GCT>ACT		transmembrane protease, serine 13							228.0	250.0	243.0					11																	117785164		2186	4270	6456	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117785164C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.622G>A	11.37:g.117785164C>T	ENSP00000387702:p.Ala208Thr					TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A208T	p.A208T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	4	715	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	203			Extracellular (Potential).|SRCR.|LDL-receptor class A.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.622G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786403	0.31593	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.85	-0.486	0.12064	.	0.317330	0.27168	N	0.020612	T	0.75517	0.3860	L	0.33710	1.025	0.09310	N	1	P;B	0.43314	0.803;0.093	B;B	0.28849	0.095;0.017	T	0.69068	-0.5243	10	0.37606	T	0.19	.	1.2366	0.01954	0.2275:0.4057:0.111:0.2558	.	203;208	Q9BYE2-4;E9PRA0	.;.	T	173;203;208;208;208;208	ENSP00000435813:A173T;ENSP00000434279:A208T;ENSP00000387702:A208T;ENSP00000394114:A208T;ENSP00000436502:A208T	ENSP00000337113:A203T	A	-	1	0	TMPRSS13	117290374	0.023000	0.18921	0.000000	0.03702	0.837000	0.47467	0.181000	0.16880	-0.350000	0.08262	0.561000	0.74099	GCT		0.617	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		205	77	0	0	0	0	205	77				
BSX	390259	broad.mit.edu	37	11	122850115	122850115	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:122850115C>A	ENST00000343035.2	-	2	361	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	105					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAGTGCTTCCCCGGCAGCTCC	0.667																																						uc010rzs.1		NA																	0					0						c.(313-315)GGG>TGG		brain specific homeobox							29.0	37.0	34.0					11																	122850115		2006	4179	6185	SO:0001583	missense	390259							g.chr11:122850115C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.313G>T	11.37:g.122850115C>A	ENSP00000344285:p.Gly105Trp						p.G105W	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	313	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	105						Missense_Mutation	SNP	ENST00000343035.2	37	c.313G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487640	0.84854	.	.	ENSG00000188909	ENST00000343035	D	0.95918	-3.85	5.22	4.25	0.50352	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.96016	0.9005	10	0.72032	D	0.01	.	15.2252	0.73345	0.0:0.8591:0.1409:0.0	.	105	Q3C1V8	BSH_HUMAN	W	105	ENSP00000344285:G105W	ENSP00000344285:G105W	G	-	1	0	BSX	122355325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.586000	0.67503	2.454000	0.82982	0.655000	0.94253	GGG		0.667	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		31	14	1	0	4.03e-09	4.64e-09	31	14				
OR8B4	283162	broad.mit.edu	37	11	124294721	124294721	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:124294721C>A	ENST00000356130.3	-	1	68	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTGATAATCCCACAAGGAT	0.473																																						uc010sak.1		NA																	0				skin(1)	1						c.(46-48)GGA>GTA		olfactory receptor, family 8, subfamily B,							49.0	47.0	48.0					11																	124294721		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294721C>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.47G>T	11.37:g.124294721C>A	ENSP00000348449:p.Gly16Val						p.G16V	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	47	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	16			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.47G>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	14.31	2.496271	0.44352	.	.	ENSG00000198657	ENST00000356130	T	0.00659	5.94	4.62	3.7	0.42460	.	0.000000	0.52532	D	0.000078	T	0.04724	0.0128	M	0.92268	3.29	0.58432	D	0.99999	D	0.60575	0.988	D	0.66847	0.947	T	0.00875	-1.1531	10	0.87932	D	0	.	6.7617	0.23544	0.0:0.6851:0.1487:0.1663	.	16	Q96RC9	OR8B4_HUMAN	V	16	ENSP00000348449:G16V	ENSP00000348449:G16V	G	-	2	0	OR8B4	123799931	0.288000	0.24324	0.763000	0.31416	0.707000	0.40811	1.140000	0.31516	1.303000	0.44873	0.655000	0.94253	GGA		0.473	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		34	9	1	0	6.71e-13	8.13e-13	34	9				
KCNJ1	3758	broad.mit.edu	37	11	128709976	128709976	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:128709976C>G	ENST00000392664.2	-	2	336	c.220G>C	c.(220-222)Gac>Cac	p.D74H	KCNJ1_ENST00000324036.3_Missense_Mutation_p.D55H|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D55H|KCNJ1_ENST00000392665.2_Missense_Mutation_p.D55H|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D55H	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	74			D -> Y (in BS2). {ECO:0000269|PubMed:9002665}.		cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CACTTGAGGTCAAGTACCGTT	0.433																																						uc001qeo.1		NA																	0				ovary(3)|breast(1)	4	GRCh37	CM970806	KCNJ1	M		c.(220-222)GAC>CAC		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						178.0	165.0	169.0					11																	128709976		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709976C>G	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.220G>C	11.37:g.128709976C>G	ENSP00000376432:p.Asp74His					KCNJ1_uc001qep.1_Missense_Mutation_p.D55H|KCNJ1_uc001qeq.1_Missense_Mutation_p.D55H|KCNJ1_uc001qer.1_Missense_Mutation_p.D55H|KCNJ1_uc001qes.1_Missense_Mutation_p.D55H	p.D74H	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	271	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	74		D -> Y (in BS2).	Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.220G>C	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921352	0.73213	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.045963	0.85682	D	0.000000	D	0.98764	0.9584	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.99494	1.0951	10	0.87932	D	0	.	19.7495	0.96261	0.0:1.0:0.0:0.0	.	74	P48048	IRK1_HUMAN	H	55;55;55;55;74;55	ENSP00000376433:D55H;ENSP00000376434:D55H;ENSP00000406320:D55H;ENSP00000316233:D55H;ENSP00000376432:D74H;ENSP00000316136:D55H	ENSP00000316136:D55H	D	-	1	0	KCNJ1	128215186	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.818000	0.86416	2.685000	0.91497	0.455000	0.32223	GAC		0.433	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		103	49	0	0	0	0	103	49				
IGSF9B	22997	broad.mit.edu	37	11	133802070	133802070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:133802070C>G	ENST00000321016.8	-	8	1236	c.1006G>C	c.(1006-1008)Gtg>Ctg	p.V336L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V336L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	336	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCACGGGCACGTAAATCACA	0.607																																						uc001qgx.3		NA																	0					0						c.(1006-1008)GTG>CTG		immunoglobulin superfamily, member 9B							54.0	67.0	62.0					11																	133802070		2172	4264	6436	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133802070C>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1006G>C	11.37:g.133802070C>G	ENSP00000317980:p.Val336Leu					IGSF9B_uc001qgy.1_Missense_Mutation_p.V178L	p.V336L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	8	1237	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	336			Extracellular (Potential).|Ig-like 4.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1006G>C		.	.	.	.	.	.	.	.	.	.	C	9.338	1.062317	0.19987	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.12569	2.67;2.67;2.67	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09512	0.0234	N	0.25647	0.755	0.48975	D	0.999735	B	0.11235	0.004	B	0.24269	0.052	T	0.04737	-1.0930	9	0.02654	T	1	.	13.6449	0.62275	0.0:0.9231:0.0:0.0769	.	336	Q9UPX0	TUTLB_HUMAN	L	336;178;336	ENSP00000317980:V336L;ENSP00000436552:V178L;ENSP00000436576:V336L	ENSP00000317980:V336L	V	-	1	0	IGSF9B	133307280	1.000000	0.71417	0.984000	0.44739	0.888000	0.51559	3.933000	0.56545	2.535000	0.85469	0.556000	0.70494	GTG		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		8	2	0	0	0	0	8	2				
ITFG2	55846	broad.mit.edu	37	12	2929961	2929961	+	Silent	SNP	G	G	A	rs373908169		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:2929961G>A	ENST00000228799.2	+	6	757	c.618G>A	c.(616-618)gcG>gcA	p.A206A	ITFG2_ENST00000542548.1_Silent_p.A94A|ITFG2_ENST00000419778.2_Silent_p.A29A	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	206					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)			CAGGTTGTGCGTATGCAATTC	0.562																																						uc001qlb.1		NA																	0					0						c.(616-618)GCG>GCA		integrin alpha FG-GAP repeat containing 2		G		1,4405	2.1+/-5.4	0,1,2202	134.0	115.0	121.0		618	-1.6	1.0	12		121	0,8600		0,0,4300	no	coding-synonymous	ITFG2	NM_018463.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		206/448	2929961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2929961G>A	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.618G>A	12.37:g.2929961G>A						ITFG2_uc010seb.1_Silent_p.A29A|ITFG2_uc010sec.1_RNA	p.A206A	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	682	+			206					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.618G>A	CCDS8513.1																																																																																				0.562	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		38	63	0	0	0	0	38	63				
CDCA3	83461	broad.mit.edu	37	12	6958258	6958258	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:6958258T>C	ENST00000538862.2	-	6	1657	c.756A>G	c.(754-756)caA>caG	p.Q252Q	CDCA3_ENST00000535406.1_Silent_p.Q252Q|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Silent_p.Q227Q|CDCA3_ENST00000540683.1_3'UTR			Q99618	CDCA3_HUMAN	cell division cycle associated 3	252					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGTCCTGGCCTTGCTCCCATG	0.532																																						uc001qrg.2		NA																	0					0						c.(754-756)CAA>CAG		cell division cycle associated 3							114.0	95.0	101.0					12																	6958258		2203	4300	6503	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958258T>C	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.756A>G	12.37:g.6958258T>C						CDCA3_uc001qre.2_Intron|uc001qrf.1_5'Flank	p.Q252Q	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			6	884	-			252					A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.756A>G	CCDS8565.1																																																																																				0.532	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		50	52	0	0	0	0	50	52				
CLSTN3	9746	broad.mit.edu	37	12	7294733	7294733	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:7294733A>T	ENST00000266546.6	+	10	1988	c.1538A>T	c.(1537-1539)cAa>cTa	p.Q513L	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q525L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	513					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACACCACCCAAGGTACTCCG	0.458											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qsr.2		NA																	0				large_intestine(1)	1						c.(1537-1539)CAA>CTA		calsyntenin 3 precursor							141.0	135.0	137.0					12																	7294733		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7294733A>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1538A>T	12.37:g.7294733A>T	ENSP00000266546:p.Gln513Leu		OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_uc001qss.2_Missense_Mutation_p.Q525L	p.Q513L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			10	1816	+			513			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1538A>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313126	0.60414	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.21191	2.02;2.05	5.4	-0.665	0.11403	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.302970	0.04785	N	0.430468	T	0.08492	0.0211	N	0.02539	-0.55	0.21652	N	0.999608	B;B	0.12013	0.005;0.005	B;B	0.14578	0.007;0.011	T	0.31336	-0.9947	10	0.10636	T	0.68	0.6562	9.9106	0.41403	0.2813:0.6367:0.082:0.0	.	525;513	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	L	513;525	ENSP00000266546:Q513L;ENSP00000440679:Q525L	ENSP00000266546:Q513L	Q	+	2	0	CLSTN3	7186000	0.805000	0.28982	0.904000	0.35570	0.960000	0.62799	0.726000	0.25984	0.277000	0.22141	0.448000	0.29417	CAA		0.458	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		8	20	0	0	0	0	8	20				
CLEC6A	93978	broad.mit.edu	37	12	8630046	8630046	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:8630046A>T	ENST00000382073.3	+	6	802	c.616A>T	c.(616-618)Aag>Tag	p.K206*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	206					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TGAGATGAATAAGATTTACCT	0.358																																						uc001qum.1		NA																	0				breast(1)	1						c.(616-618)AAG>TAG		dectin-2							74.0	75.0	75.0					12																	8630046		2203	4300	6503	SO:0001587	stop_gained	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8630046A>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.616A>T	12.37:g.8630046A>T	ENSP00000371505:p.Lys206*						p.K206*	NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN			6	733	+	Lung SC(5;0.184)		206			Extracellular (Potential).		A2RUK3	Nonsense_Mutation	SNP	ENST00000382073.3	37	c.616A>T	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825995	0.71143	.	.	ENSG00000205846	ENST00000382073	.	.	.	3.1	3.1	0.35709	.	0.000000	0.35067	N	0.003480	.	.	.	.	.	.	0.35446	D	0.795274	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9895	0.30231	1.0:0.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000371505:K206X	K	+	1	0	CLEC6A	8521313	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	2.466000	0.45084	1.653000	0.50694	0.533000	0.62120	AAG		0.358	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		47	77	0	0	0	0	47	77				
A2M	2	broad.mit.edu	37	12	9262518	9262518	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:9262518C>T	ENST00000318602.7	-	6	925	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	206					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTCTGTACCACCACCTTGT	0.458																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(616-618)GTG>GTA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						128.0	139.0	135.0					12																	9262518		2187	4296	6483	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9262518C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.618G>A	12.37:g.9262518C>T						A2M_uc009zgk.1_Silent_p.V56V	p.V206V	NM_000014	NP_000005	P01023	A2MG_HUMAN			6	731	-			206					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.618G>A	CCDS44827.1																																																																																				0.458	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		127	186	0	0	0	0	127	186				
PIK3C2G	5288	broad.mit.edu	37	12	18644453	18644453	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:18644453T>G	ENST00000266497.5	+	18	2669	c.2631T>G	c.(2629-2631)ccT>ccG	p.P877P	PIK3C2G_ENST00000433979.1_Silent_p.P877P|PIK3C2G_ENST00000538779.1_Silent_p.P918P			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	877					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTCATCTTCCTCTGAACCCTG	0.333																																						uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2629-2631)CCT>CCG		phosphoinositide-3-kinase, class 2 gamma							111.0	106.0	108.0					12																	18644453		1851	4078	5929	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18644453T>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2631T>G	12.37:g.18644453T>G						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.P918P|PIK3C2G_uc010sic.1_Silent_p.P696P	p.P877P	NM_004570	NP_004561	O75747	P3C2G_HUMAN			19	2747	+		Hepatocellular(102;0.194)	877					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2631T>G	CCDS44839.1																																																																																				0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		57	85	0	0	0	0	57	85				
ABCC9	10060	broad.mit.edu	37	12	21965011	21965011	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:21965011C>A	ENST00000261201.4	-	34	4182	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.D1359Y|ABCC9_ENST00000261200.4_Missense_Mutation_p.D1395Y	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1395	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTATTGGATCCTGCAGAATG	0.378																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(4183-4185)GAT>TAT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						218.0	188.0	198.0					12																	21965011		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21965011C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4183G>T	12.37:g.21965011C>A	ENSP00000261201:p.Asp1395Tyr					ABCC9_uc001rfh.2_Missense_Mutation_p.D1395Y|ABCC9_uc001rfj.1_Missense_Mutation_p.D1359Y	p.D1395Y	NM_005691	NP_005682	O60706	ABCC9_HUMAN			34	4203	-			1395			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4183G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489769	0.84962	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96926	0.8996	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97709	1.0189	10	0.87932	D	0	-20.1305	18.1757	0.89760	0.0:1.0:0.0:0.0	.	1395;1395	O60706;O60706-2	ABCC9_HUMAN;.	Y	1395;1022;1395;1359	ENSP00000261200:D1395Y;ENSP00000440521:D1022Y;ENSP00000261201:D1395Y;ENSP00000261202:D1359Y	ENSP00000261200:D1395Y	D	-	1	0	ABCC9	21856278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.353000	0.79414	2.609000	0.88269	0.650000	0.86243	GAT		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		52	113	1	0	1.13e-26	1.54e-26	52	113				
ABCC9	10060	broad.mit.edu	37	12	22028605	22028605	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:22028605T>C	ENST00000261201.4	-	15	2074	c.2075A>G	c.(2074-2076)gAt>gGt	p.D692G	ABCC9_ENST00000345162.2_Missense_Mutation_p.D656G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.D692G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AATTCGAATATCTATATTGGA	0.308																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(2074-2076)GAT>GGT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						77.0	77.0	77.0					12																	22028605		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22028605T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2075A>G	12.37:g.22028605T>C	ENSP00000261201:p.Asp692Gly					ABCC9_uc001rfh.2_Missense_Mutation_p.D692G|ABCC9_uc001rfj.1_Missense_Mutation_p.D656G	p.D692G	NM_005691	NP_005682	O60706	ABCC9_HUMAN			15	2095	-			692			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2075A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453350	0.43531	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.55	5.55	0.83447	ABC transporter-like (1);	0.189340	0.56097	D	0.000035	D	0.91178	0.7221	L	0.48935	1.535	0.34620	D	0.718488	B;B	0.23650	0.032;0.089	B;B	0.26969	0.044;0.075	D	0.92338	0.5879	10	0.62326	D	0.03	-12.656	15.3484	0.74363	0.0:0.0:0.0:1.0	.	692;692	O60706;O60706-2	ABCC9_HUMAN;.	G	692;319;692;656	ENSP00000261200:D692G;ENSP00000440521:D319G;ENSP00000261201:D692G;ENSP00000261202:D656G	ENSP00000261200:D692G	D	-	2	0	ABCC9	21919872	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.203000	0.65174	2.098000	0.63641	0.397000	0.26171	GAT		0.308	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		42	60	0	0	0	0	42	60				
FGD4	121512	broad.mit.edu	37	12	32735204	32735204	+	Missense_Mutation	SNP	A	A	G	rs139620944		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:32735204A>G	ENST00000427716.2	+	4	827	c.403A>G	c.(403-405)Act>Gct	p.T135A	FGD4_ENST00000531134.1_Missense_Mutation_p.T220A|FGD4_ENST00000534526.2_Missense_Mutation_p.T272A|FGD4_ENST00000472289.1_Missense_Mutation_p.T135A|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Missense_Mutation_p.T42A|FGD4_ENST00000525053.1_Missense_Mutation_p.T247A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	135	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGAGATGAAACTGCCACAGC	0.493																																						uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(403-405)ACT>GCT		FYVE, RhoGEF and PH domain containing 4							120.0	106.0	110.0					12																	32735204		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735204A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.403A>G	12.37:g.32735204A>G	ENSP00000394487:p.Thr135Ala					FGD4_uc001rlc.2_Missense_Mutation_p.T220A|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.T247A|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.T135A	p.T135A	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			4	880	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		135			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.403A>G	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078114	0.36662	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.69561	-0.41;-0.38;-0.37;-0.35;-0.4	4.91	-1.79	0.07932	.	0.753892	0.11608	N	0.547024	T	0.46964	0.1420	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.0;0.004	B;B;B;B	0.11329	0.0;0.0;0.0;0.006	T	0.24225	-1.0166	10	0.38643	T	0.18	-0.6013	5.843	0.18645	0.4642:0.0:0.4056:0.1302	.	247;220;135;135	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	A	272;220;135;135;42;247;116	ENSP00000449273:T272A;ENSP00000431323:T220A;ENSP00000394487:T135A;ENSP00000446695:T42A;ENSP00000433666:T247A	ENSP00000379089:T135A	T	+	1	0	FGD4	32626471	0.000000	0.05858	0.000000	0.03702	0.726000	0.41606	0.088000	0.14979	-0.639000	0.05502	0.383000	0.25322	ACT		0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		38	94	0	0	0	0	38	94				
CNTN1	1272	broad.mit.edu	37	12	41422960	41422960	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:41422960T>A	ENST00000551295.2	+	23	3036	c.2919T>A	c.(2917-2919)gtT>gtA	p.V973V	CNTN1_ENST00000347616.1_Silent_p.V973V|CNTN1_ENST00000348761.2_Silent_p.V962V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	973	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGAATACGTTGTGGAGGTTC	0.448																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2917-2919)GTT>GTA		contactin 1 isoform 1 precursor							219.0	205.0	210.0					12																	41422960		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422960T>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2919T>A	12.37:g.41422960T>A						CNTN1_uc001rmn.1_Silent_p.V962V	p.V973V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			23	3032	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	973			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2919T>A	CCDS8737.1																																																																																				0.448	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		148	167	0	0	0	0	148	167				
DNAJC22	79962	broad.mit.edu	37	12	49745133	49745133	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:49745133G>A	ENST00000549441.2	+	4	2078	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.E292K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	292	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AACAAATGAAGAAATACATCG	0.522																																						uc001rua.2		NA																	0				ovary(1)	1						c.(874-876)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 22							69.0	71.0	70.0					12																	49745133		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49745133G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.874G>A	12.37:g.49745133G>A	ENSP00000446830:p.Glu292Lys					DNAJC22_uc001rub.2_Missense_Mutation_p.E292K	p.E292K	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			3	1275	+			292			J.		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.874G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964000	0.92791	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.28895	1.59;1.59	5.5	4.61	0.57282	Heat shock protein DnaJ, N-terminal (5);	0.149252	0.64402	D	0.000013	T	0.56906	0.2017	M	0.80847	2.515	0.58432	D	0.999997	D	0.69078	0.997	D	0.73380	0.98	T	0.64118	-0.6482	10	0.87932	D	0	-0.0065	14.1713	0.65512	0.0:0.1508:0.8492:0.0	.	292	Q8N4W6	DJC22_HUMAN	K	292	ENSP00000446830:E292K;ENSP00000378508:E292K	ENSP00000378508:E292K	E	+	1	0	DNAJC22	48031400	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.953000	0.75995	1.552000	0.49463	0.555000	0.69702	GAA		0.522	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		33	73	0	0	0	0	33	73				
SLC11A2	4891	broad.mit.edu	37	12	51388355	51388355	+	Missense_Mutation	SNP	G	G	C	rs376365060		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:51388355G>C	ENST00000262051.7	-	11	1136	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W	SLC11A2_ENST00000546743.1_Missense_Mutation_p.S271W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S350W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S346W|SLC11A2_ENST00000394904.3_Missense_Mutation_p.S379W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S379W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S350W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S350W	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	350					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGCCAGTGTCGAGTTATCTTT	0.403																																						uc001rxe.3		NA																	0				large_intestine(1)	1						c.(1048-1050)TCG>TGG		solute carrier family 11 (proton-coupled							124.0	108.0	113.0					12																	51388355		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51388355G>C	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1049C>G	12.37:g.51388355G>C	ENSP00000262051:p.Ser350Trp					SLC11A2_uc001rxd.3_Missense_Mutation_p.S199W|SLC11A2_uc001rxc.3_Missense_Mutation_p.S350W|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'UTR|SLC11A2_uc010smx.1_Missense_Mutation_p.S346W|SLC11A2_uc001rxh.1_Missense_Mutation_p.S350W|SLC11A2_uc001rxj.1_Missense_Mutation_p.S350W|SLC11A2_uc001rxi.2_Missense_Mutation_p.S350W|SLC11A2_uc001rxk.1_Missense_Mutation_p.S379W|SLC11A2_uc010smy.1_Missense_Mutation_p.S313W	p.S350W	NM_000617	NP_000608	P49281	NRAM2_HUMAN			11	1146	-			350			Extracellular (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.1049C>G	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153710	0.38021	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.32753	1.85;1.85;1.85;1.84;1.84;1.85;1.85;1.44	5.36	4.42	0.53409	.	0.520661	0.19963	N	0.102173	T	0.29684	0.0741	N	0.12182	0.205	0.47123	D	0.999327	P;P;D;P;P;B	0.56521	0.902;0.95;0.976;0.881;0.902;0.002	P;P;P;P;P;B	0.59357	0.856;0.775;0.85;0.775;0.856;0.039	T	0.02484	-1.1152	10	0.46703	T	0.11	-6.5997	9.3318	0.38027	0.0:0.1299:0.6286:0.2415	.	313;346;379;350;199;350	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	W	350;350;350;379;379;350;346;271	ENSP00000262051:S350W;ENSP00000446769:S350W;ENSP00000262052:S350W;ENSP00000378364:S379W;ENSP00000449200:S379W;ENSP00000444542:S350W;ENSP00000442810:S346W;ENSP00000446914:S271W	ENSP00000262051:S350W	S	-	2	0	SLC11A2	49674622	0.471000	0.25862	0.946000	0.38457	0.708000	0.40852	3.627000	0.54252	2.665000	0.90641	0.655000	0.94253	TCG		0.403	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			57	95	0	0	0	0	57	95				
KRT73	319101	broad.mit.edu	37	12	53012037	53012037	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:53012037A>G	ENST00000305748.3	-	1	306	c.272T>C	c.(271-273)tTg>tCg	p.L91S	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	91	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGGACCCCAAGGCCACACT	0.627																																						uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(271-273)TTG>TCG		keratin 73							112.0	122.0	118.0					12																	53012037		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012037A>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.272T>C	12.37:g.53012037A>G	ENSP00000307014:p.Leu91Ser						p.L91S	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	307	-			91			Head.|Gly-rich.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.272T>C	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	A	5.651	0.304801	0.10678	.	.	ENSG00000186049	ENST00000305748	T	0.74947	-0.89	4.64	4.64	0.57946	.	0.173129	0.27371	N	0.019667	T	0.66307	0.2776	L	0.58969	1.84	0.27140	N	0.961671	B	0.17667	0.023	B	0.20767	0.031	T	0.53308	-0.8457	10	0.22109	T	0.4	.	7.537	0.27717	0.7775:0.144:0.0785:0.0	.	91	Q86Y46	K2C73_HUMAN	S	91	ENSP00000307014:L91S	ENSP00000307014:L91S	L	-	2	0	KRT73	51298304	0.012000	0.17670	0.688000	0.30117	0.010000	0.07245	0.212000	0.17497	2.032000	0.59987	0.533000	0.62120	TTG		0.627	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		111	162	0	0	0	0	111	162				
HOXC13	3229	broad.mit.edu	37	12	54338804	54338804	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:54338804G>A	ENST00000243056.3	+	2	913	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	253					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCTGCAGCCCGAGGTGAGCAG	0.607			T	NUP98	AML																																	uc001sei.2		NA		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)	1						c.(757-759)GAG>AAG		homeobox C13							79.0	88.0	85.0					12																	54338804		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338804G>A		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.757G>A	12.37:g.54338804G>A	ENSP00000243056:p.Glu253Lys					HOXC13_uc010sop.1_RNA	p.E253K	NM_017410	NP_059106	P31276	HXC13_HUMAN			2	872	+			253					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.757G>A	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733302	0.96865	.	.	ENSG00000123364	ENST00000243056	D	0.95656	-3.77	4.82	4.82	0.62117	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	M	0.67953	2.075	0.80722	D	1	D	0.61697	0.99	P	0.52710	0.707	D	0.96576	0.9427	10	0.87932	D	0	.	17.1954	0.86891	0.0:0.0:1.0:0.0	.	253	P31276	HXC13_HUMAN	K	253	ENSP00000243056:E253K	ENSP00000243056:E253K	E	+	1	0	HOXC13	52625071	1.000000	0.71417	0.992000	0.48379	0.846000	0.48090	6.363000	0.73082	2.686000	0.91538	0.561000	0.74099	GAG		0.607	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			148	213	0	0	0	0	148	213				
AVIL	10677	broad.mit.edu	37	12	58197112	58197112	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:58197112T>G	ENST00000257861.3	-	15	2310	c.1880A>C	c.(1879-1881)cAa>cCa	p.Q627P	RP11-571M6.17_ENST00000602802.1_lincRNA|RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.Q620P|AVIL_ENST00000550083.1_5'UTR	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	627	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sqj.1		NA																	0				central_nervous_system(1)	1						c.(1879-1881)CAA>CCA		advillin							219.0	191.0	200.0					12																	58197112		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197112T>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1880A>C	12.37:g.58197112T>G	ENSP00000257861:p.Gln627Pro		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_uc009zqe.1_Missense_Mutation_p.Q620P|AVIL_uc001sqk.1_Missense_Mutation_p.Q205P	p.Q627P	NM_006576	NP_006567	O75366	AVIL_HUMAN			15	1909	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		627			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1880A>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	7.852	0.724152	0.15439	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.22743	1.94;1.94	5.27	2.43	0.29744	.	0.175931	0.50627	D	0.000116	T	0.15349	0.0370	N	0.20685	0.6	0.29238	N	0.872847	B;B	0.17268	0.0;0.021	B;B	0.32864	0.002;0.154	T	0.16600	-1.0397	10	0.56958	D	0.05	-8.6516	8.8074	0.34945	0.0:0.7438:0.0:0.2562	.	620;627	O75366-2;O75366	.;AVIL_HUMAN	P	620;627	ENSP00000443207:Q620P;ENSP00000257861:Q627P	ENSP00000257861:Q627P	Q	-	2	0	AVIL	56483379	0.372000	0.25064	0.218000	0.23776	0.008000	0.06430	0.715000	0.25822	0.214000	0.20742	-0.366000	0.07423	CAA		0.478	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		139	214	0	0	0	0	139	214				
PTPRB	5787	broad.mit.edu	37	12	70928431	70928431	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:70928431C>T	ENST00000261266.5	-	29	5580	c.5551G>A	c.(5551-5553)Gag>Aag	p.E1851K	PTPRB_ENST00000550358.1_Splice_Site_p.E1981K|PTPRB_ENST00000334414.6_Splice_Site_p.E2069K|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Splice_Site_p.E1761K|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Splice_Site_p.E1761K|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Splice_Site_p.E1761K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1851	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTGTTCCTCCTGTAAGAGC	0.493																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(5551-5553)GAG>AAG		protein tyrosine phosphatase, receptor type, B							48.0	47.0	48.0					12																	70928431		2005	4195	6200	SO:0001630	splice_region_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928431C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5551-1G>A	12.37:g.70928431C>T						uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1761K|PTPRB_uc010stp.1_Missense_Mutation_p.E1761K|PTPRB_uc001swc.3_Missense_Mutation_p.E2069K|PTPRB_uc001swa.3_Missense_Mutation_p.E1981K	p.E1851K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		29	5581	-	Renal(347;0.236)		1851			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5551G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683475	0.88542	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	N	0.05608	-0.01	0.58432	D	0.999999	D;D;D;D;P	0.89917	0.981;0.981;1.0;0.985;0.913	P;D;D;D;P	0.87578	0.841;0.952;0.998;0.927;0.831	T	0.83054	-0.0151	10	0.27785	T	0.31	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	1761;1761;2069;1851;1981	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	K	2069;1761;1981;1761;1761;1851	ENSP00000334928:E2069K;ENSP00000393028:E1761K;ENSP00000448058:E1981K;ENSP00000438927:E1761K;ENSP00000447302:E1761K;ENSP00000261266:E1851K	ENSP00000261266:E1851K	E	-	1	0	PTPRB	69214698	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.999000	0.70665	2.662000	0.90505	0.557000	0.71058	GAG		0.493	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Missense_Mutation	17	18	0	0	0	0	17	18				
OSBPL8	114882	broad.mit.edu	37	12	76791585	76791585	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:76791585C>A	ENST00000261183.3	-	8	1040	c.561G>T	c.(559-561)tgG>tgT	p.W187C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.W145C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.W145C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	187	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGTTCCTACCCACTGACCAT	0.398																																						uc001sye.1		NA																	0				ovary(1)	1						c.(559-561)TGG>TGT		oxysterol-binding protein-like protein 8 isoform							121.0	105.0	111.0					12																	76791585		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76791585C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.561G>T	12.37:g.76791585C>A	ENSP00000261183:p.Trp187Cys					OSBPL8_uc001syf.1_Missense_Mutation_p.W145C|OSBPL8_uc001syg.1_Missense_Mutation_p.W145C|OSBPL8_uc001syh.1_Missense_Mutation_p.W162C	p.W187C	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			8	1041	-			187			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.561G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748818	0.89753	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.75050	-0.9;2.77;-0.9;2.77;-0.9	5.64	5.64	0.86602	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88089	0.2812	10	0.87932	D	0	-4.0019	19.7126	0.96102	0.0:1.0:0.0:0.0	.	162;187	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	145;187;172;145;187;187;162	ENSP00000376939:W145C;ENSP00000261183:W187C;ENSP00000376940:W145C;ENSP00000450238:W187C;ENSP00000447893:W162C	ENSP00000261183:W187C	W	-	3	0	OSBPL8	75315716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.664000	0.90586	0.650000	0.86243	TGG		0.398	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		48	71	1	0	1.01e-21	1.31e-21	48	71				
DEPDC4	120863	broad.mit.edu	37	12	100660775	100660775	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:100660775T>C	ENST00000416321.1	-	1	82	c.80A>G	c.(79-81)aAc>aGc	p.N27S	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	27					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CGGAAGCTCGTTCTGACTGAC	0.602																																						uc001thi.2		NA																	0					0						c.(79-81)AAC>AGC		DEP domain containing 4							90.0	96.0	94.0					12																	100660775		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100660775T>C	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.80A>G	12.37:g.100660775T>C	ENSP00000396234:p.Asn27Ser					SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.N27S|DEPDC4_uc009ztv.1_Missense_Mutation_p.N27S|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_RNA	p.N27S	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			1	83	-			27					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.80A>G	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213142	0.39102	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.27256	1.68;1.68;1.79;1.69	5.01	-1.34	0.09143	.	0.553012	0.16821	N	0.198142	T	0.07279	0.0184	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.34104	-0.9842	10	0.18276	T	0.48	.	4.8564	0.13561	0.1491:0.4537:0.0:0.3972	.	27;27;27	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	S	27;27;27;27;27;20	ENSP00000396234:N27S;ENSP00000448385:N27S;ENSP00000448338:N27S;ENSP00000449590:N20S	ENSP00000299185:N27S	N	-	2	0	DEPDC4	99184906	0.016000	0.18221	0.000000	0.03702	0.056000	0.15407	0.049000	0.14099	-0.119000	0.11830	0.533000	0.62120	AAC		0.602	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		97	119	0	0	0	0	97	119				
SLC5A8	160728	broad.mit.edu	37	12	101603501	101603501	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:101603501G>A	ENST00000536262.2	-	1	684	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGTCCTTGGAGGTCTGCT	0.657																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(124-126)TCC>TCT		solute carrier family 5 (iodide transporter),							40.0	38.0	39.0					12																	101603501		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603501G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.126C>T	12.37:g.101603501G>A							p.S42S	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	516	-			42			Cytoplasmic (Potential).			Silent	SNP	ENST00000536262.2	37	c.126C>T	CCDS9080.1																																																																																				0.657	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		25	38	0	0	0	0	25	38				
STAB2	55576	broad.mit.edu	37	12	104054129	104054129	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:104054129A>T	ENST00000388887.2	+	16	1959	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTCTGGAACTCGTCAGAT	0.438																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(1753-1755)GAA>GAT		stabilin 2 precursor							247.0	248.0	248.0					12																	104054129		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104054129A>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1755A>T	12.37:g.104054129A>T	ENSP00000373539:p.Glu585Asp						p.E585D	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			16	1941	+			585			Extracellular (Potential).|FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1755A>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631448	0.87660	.	.	ENSG00000136011	ENST00000388887	D	0.90900	-2.75	6.17	6.17	0.99709	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	L	0.44542	1.39	0.39399	D	0.966558	D	0.89917	1.0	D	0.87578	0.998	D	0.93110	0.6516	10	0.72032	D	0.01	.	10.171	0.42911	0.9255:0.0:0.0745:0.0	.	585	Q8WWQ8	STAB2_HUMAN	D	585	ENSP00000373539:E585D	ENSP00000373539:E585D	E	+	3	2	STAB2	102578259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.400000	0.52594	2.371000	0.80710	0.533000	0.62120	GAA		0.438	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			146	219	0	0	0	0	146	219				
POLR3B	55703	broad.mit.edu	37	12	106760311	106760311	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:106760311A>G	ENST00000228347.4	+	3	345	c.123A>G	c.(121-123)aaA>aaG	p.K41K	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	41					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCCTTGTGAAACAGCATATAG	0.318																																						uc001tlp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(121-123)AAA>AAG		DNA-directed RNA polymerase III B isoform 1							132.0	130.0	130.0					12																	106760311		2203	4299	6502	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106760311A>G	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.123A>G	12.37:g.106760311A>G						POLR3B_uc001tlq.2_5'UTR	p.K41K	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			3	345	+			41					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.123A>G	CCDS9105.1																																																																																				0.318	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		45	44	0	0	0	0	45	44				
USP30	84749	broad.mit.edu	37	12	109522854	109522854	+	Missense_Mutation	SNP	C	C	T	rs201279666		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:109522854C>T	ENST00000257548.5	+	12	1358	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	USP30_ENST00000392784.2_Missense_Mutation_p.P391L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATGCCCTTCCCTCTCCCAGTT	0.507																																						uc010sxi.1		NA																	0				lung(1)	1						c.(1264-1266)CCT>CTT		ubiquitin specific peptidase 30		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	186.0	202.0	197.0		1265	3.6	0.5	12		197	0,8600		0,0,4300	yes	missense	USP30	NM_032663.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	422/518	109522854	1,13005	2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522854C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1265C>T	12.37:g.109522854C>T	ENSP00000257548:p.Pro422Leu					USP30_uc001tnu.3_Missense_Mutation_p.P391L|USP30_uc001tnw.3_Missense_Mutation_p.P139L	p.P422L	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			12	1369	+			422			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1265C>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484019	0.44147	2.27E-4	0.0	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.72505	-0.66;-0.66	5.5	3.64	0.41730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.278962	0.40469	N	0.001092	T	0.74703	0.3751	M	0.78285	2.405	0.48185	D	0.999601	B;P	0.51537	0.002;0.946	B;P	0.51974	0.005;0.686	T	0.71882	-0.4458	10	0.39692	T	0.17	-8.5464	6.8695	0.24113	0.1736:0.7373:0.0:0.0891	.	422;391	Q70CQ3;B3KUS5	UBP30_HUMAN;.	L	391;422	ENSP00000376535:P391L;ENSP00000257548:P422L	ENSP00000257548:P422L	P	+	2	0	USP30	108007237	0.771000	0.28555	0.473000	0.27253	0.069000	0.16628	1.948000	0.40303	0.653000	0.30826	0.650000	0.86243	CCT		0.507	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		250	374	0	0	0	0	250	374				
ATP6V0A2	23545	broad.mit.edu	37	12	124221737	124221737	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:124221737G>T	ENST00000330342.3	+	9	1205	c.957G>T	c.(955-957)gtG>gtT	p.V319V		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	319					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTTTGACGTGACCAACAAGT	0.562																																						uc001ufr.2		NA																	0				ovary(2)	2						c.(955-957)GTG>GTT		ATPase, H+ transporting, lysosomal V0 subunit							138.0	106.0	116.0					12																	124221737		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124221737G>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.957G>T	12.37:g.124221737G>T						ATP6V0A2_uc001ufq.1_Silent_p.V319V	p.V319V	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	9	1205	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		319			Cytoplasmic (Potential).		A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.957G>T	CCDS9254.1																																																																																				0.562	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		51	68	1	0	6.17e-35	8.81e-35	51	68				
TMEM132D	121256	broad.mit.edu	37	12	129559181	129559181	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:129559181T>G	ENST00000422113.2	-	9	2865	c.2539A>C	c.(2539-2541)Atg>Ctg	p.M847L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M385L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	847					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGAGTCCCATAGAAGAACTG	0.527																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2539-2541)ATG>CTG		transmembrane protein 132D precursor							117.0	112.0	114.0					12																	129559181		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559181T>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2539A>C	12.37:g.129559181T>G	ENSP00000408581:p.Met847Leu					TMEM132D_uc001uia.2_Missense_Mutation_p.M385L	p.M847L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2867	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	847			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2539A>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	2.692	-0.272888	0.05716	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08807	3.05;3.85	4.2	-8.4	0.00965	.	1.264070	0.05631	N	0.581666	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.41305	-0.9516	9	.	.	.	-2.7491	4.2962	0.10902	0.0882:0.2087:0.1752:0.5279	.	847;385	Q14C87;Q14C87-2	T132D_HUMAN;.	L	385;847	ENSP00000374092:M385L;ENSP00000408581:M847L	.	M	-	1	0	TMEM132D	128125134	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-2.677000	0.00839	-1.613000	0.01577	-0.464000	0.05259	ATG		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		62	87	0	0	0	0	62	87				
TPTE2	93492	broad.mit.edu	37	13	20039644	20039644	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:20039644A>T	ENST00000400230.2	-	8	617	c.573T>A	c.(571-573)ctT>ctA	p.L191L	TPTE2_ENST00000457266.2_Silent_p.L80L|TPTE2_ENST00000382977.4_Silent_p.L191L|TPTE2_ENST00000255310.6_Silent_p.L114L|TPTE2_ENST00000390680.2_Silent_p.L114L|TPTE2_ENST00000382978.1_Silent_p.L151L|TPTE2_ENST00000400103.2_Silent_p.L80L|TPTE2_ENST00000382975.4_Silent_p.L151L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	191					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTTTTTGATGAAGCAGATGAA	0.333																																						uc001umd.2		NA																	0					0						c.(571-573)CTT>CTA		TPTE and PTEN homologous inositol lipid							45.0	44.0	44.0					13																	20039644		2202	4300	6502	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039644A>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.573T>A	13.37:g.20039644A>T						TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.L80L|TPTE2_uc001ume.2_Silent_p.L114L|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.L191L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	784	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	191					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.573T>A	CCDS45014.1																																																																																				0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		28	11	0	0	0	0	28	11				
ATP8A2	51761	broad.mit.edu	37	13	26129169	26129169	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:26129169T>A	ENST00000381655.2	+	13	1368	c.1226T>A	c.(1225-1227)aTg>aAg	p.M409K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M369K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	369					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCCTGCCATGGCCAGGACA	0.418																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1225-1227)ATG>AAG		ATPase, aminophospholipid transporter-like,							102.0	99.0	100.0					13																	26129169		1838	4098	5936	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26129169T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1226T>A	13.37:g.26129169T>A	ENSP00000371070:p.Met409Lys					ATP8A2_uc010tdi.1_Missense_Mutation_p.M369K|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.M369K	p.M409K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	13	1368	+		Breast(139;0.0201)|Lung SC(185;0.0225)	369			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1226T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.136933	0.56936	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.88431	-2.38;-2.38	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	N	0.11064	0.09	0.80722	D	1	B;B;B	0.31227	0.114;0.314;0.114	B;B;B	0.35413	0.058;0.202;0.086	T	0.80002	-0.1565	10	0.38643	T	0.18	.	15.0176	0.71597	0.0:0.0:0.0:1.0	.	369;369;369	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	K	409;369;189	ENSP00000371070:M409K;ENSP00000255283:M369K	ENSP00000255283:M369K	M	+	2	0	ATP8A2	25027169	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	7.739000	0.84976	2.146000	0.66826	0.519000	0.50382	ATG		0.418	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		61	19	0	0	0	0	61	19				
RXFP2	122042	broad.mit.edu	37	13	32339279	32339279	+	Splice_Site	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:32339279T>A	ENST00000298386.2	+	4	496	c.425T>A	c.(424-426)cTg>cAg	p.L142Q	RXFP2_ENST00000380314.1_Splice_Site_p.L142Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGACATTACTGTGAGTAAAA	0.343																																						uc001utt.2		NA																	0					0						c.(424-426)CTG>CAG		relaxin/insulin-like family peptide receptor 2							143.0	132.0	135.0					13																	32339279		2203	4300	6503	SO:0001630	splice_region_variant	122042					integral to membrane|plasma membrane		g.chr13:32339279T>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.425+1T>A	13.37:g.32339279T>A						RXFP2_uc010aba.2_Missense_Mutation_p.L125Q	p.L142Q	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	4	496	+		Lung SC(185;0.0262)	142			LRR 1.|Extracellular (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.425T>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446720	0.63178	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.22134	2.53;1.97	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000003	T	0.63224	0.2493	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77536	-0.2551	10	0.87932	D	0	.	14.2993	0.66336	0.0:0.0:0.0:1.0	.	142;142	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	142	ENSP00000369670:L142Q;ENSP00000298386:L142Q	ENSP00000298386:L142Q	L	+	2	0	RXFP2	31237279	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	4.797000	0.62503	2.266000	0.75297	0.454000	0.30748	CTG		0.343	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	Missense_Mutation	38	12	0	0	0	0	38	12				
SIAH3	283514	broad.mit.edu	37	13	46357979	46357979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:46357979C>A	ENST00000400405.2	-	2	455	c.349G>T	c.(349-351)Gaa>Taa	p.E117*		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	117					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E117K(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGGCGGCCTTCCCACTGGCAG	0.667																																						uc001vap.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)GAA>TAA		seven in absentia homolog 3							59.0	66.0	64.0					13																	46357979		2091	4216	6307	SO:0001587	stop_gained	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357979C>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.349G>T	13.37:g.46357979C>A	ENSP00000383256:p.Glu117*						p.E117*	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	431	-			117			SIAH-type; degenerate.		B7ZBP0|Q8N8M6	Nonsense_Mutation	SNP	ENST00000400405.2	37	c.349G>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573555	0.96553	.	.	ENSG00000215475	ENST00000400405	.	.	.	5.19	5.19	0.71726	.	0.378221	0.26341	U	0.024933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.0614	17.7051	0.88306	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000383256:E117X	E	-	1	0	SIAH3	45255980	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.509000	0.53386	2.431000	0.82371	0.561000	0.74099	GAA		0.667	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		55	24	1	0	4.67e-28	6.44e-28	55	24				
SLITRK5	26050	broad.mit.edu	37	13	88329715	88329715	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:88329715G>T	ENST00000325089.6	+	2	2291	c.2072G>T	c.(2071-2073)cGc>cTc	p.R691L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R450L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	691					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCATGAAGCGCAGGAAGAAG	0.602																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2071-2073)CGC>CTC		SLIT and NTRK-like family, member 5 precursor							118.0	122.0	120.0					13																	88329715		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329715G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2072G>T	13.37:g.88329715G>T	ENSP00000366283:p.Arg691Leu					SLITRK5_uc010tic.1_Missense_Mutation_p.R450L	p.R691L	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2291	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		691			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2072G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277529	0.80580	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.65916	-0.18;0.15	5.2	5.2	0.72013	.	0.118844	0.52532	D	0.000076	T	0.79149	0.4397	M	0.77103	2.36	0.45261	D	0.998262	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.971	T	0.80190	-0.1485	9	.	.	.	-16.4223	16.2227	0.82267	0.0:0.0:1.0:0.0	.	450;691	B4DSH5;O94991	.;SLIK5_HUMAN	L	691;450	ENSP00000366283:R691L;ENSP00000442244:R450L	.	R	+	2	0	SLITRK5	87127716	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.200000	0.72118	2.404000	0.81709	0.555000	0.69702	CGC		0.602	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			25	18	1	0	1.55e-16	1.94e-16	25	18				
OR4K1	79544	broad.mit.edu	37	14	20403895	20403895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20403895C>T	ENST00000285600.4	+	1	129	c.70C>T	c.(70-72)Caa>Taa	p.Q24*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGGGGACTTCAACTTTTCTT	0.358																																						uc001vwj.1		NA																	0				skin(2)|ovary(1)	3						c.(70-72)CAA>TAA		olfactory receptor, family 4, subfamily K,							353.0	391.0	378.0					14																	20403895		2203	4300	6503	SO:0001587	stop_gained	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403895C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.70C>T	14.37:g.20403895C>T	ENSP00000285600:p.Gln24*						p.Q24*	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	70	+	all_cancers(95;0.00108)		24			Extracellular (Potential).		B9EKV9|Q8NGD6|Q96R73	Nonsense_Mutation	SNP	ENST00000285600.4	37	c.70C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.005626	0.54254	.	.	ENSG00000155249	ENST00000285600	.	.	.	4.77	3.84	0.44239	.	0.000000	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.8481	0.57842	0.0:0.8354:0.1646:0.0	.	.	.	.	X	24	.	ENSP00000285600:Q24X	Q	+	1	0	OR4K1	19473735	0.133000	0.22466	0.974000	0.42286	0.196000	0.23810	1.583000	0.36579	2.483000	0.83821	0.561000	0.74099	CAA		0.358	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			196	326	0	0	0	0	196	326				
OR11G2	390439	broad.mit.edu	37	14	20666109	20666109	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20666109C>A	ENST00000357366.3	+	1	615	c.615C>A	c.(613-615)tcC>tcA	p.S205S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCAAATGTCCTTCTGTGGAT	0.443																																						uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(613-615)TCC>TCA		olfactory receptor, family 11, subfamily G,							117.0	103.0	107.0					14																	20666109		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666109C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.615C>A	14.37:g.20666109C>A							p.S205S	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	615	+	all_cancers(95;0.00108)		205			Extracellular (Potential).		Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.615C>A	CCDS32032.1																																																																																				0.443	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			59	19	1	0	8.29e-21	1.07e-20	59	19				
TEP1	7011	broad.mit.edu	37	14	20846329	20846329	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20846329C>G	ENST00000262715.5	-	39	5615	c.5575G>C	c.(5575-5577)Gtg>Ctg	p.V1859L	TEP1_ENST00000545983.1_Missense_Mutation_p.V197L|TEP1_ENST00000556935.1_Missense_Mutation_p.V1751L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1859					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCCGGCCCACAGCCACAACC	0.622																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(5575-5577)GTG>CTG		telomerase-associated protein 1							64.0	69.0	67.0					14																	20846329		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846329C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5575G>C	14.37:g.20846329C>G	ENSP00000262715:p.Val1859Leu					TEP1_uc010ahk.2_Missense_Mutation_p.V1202L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1751L|TEP1_uc010tlh.1_Missense_Mutation_p.V197L	p.V1859L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5615	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1859			WD 6.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5575G>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729143	0.30684	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.54479	0.57;1.49;1.49	5.48	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.341865	0.30649	N	0.009172	T	0.40272	0.1110	L	0.43701	1.375	0.09310	N	0.999999	B;B;B;B	0.19583	0.006;0.008;0.037;0.005	B;B;B;B	0.16722	0.003;0.011;0.016;0.005	T	0.29701	-1.0003	10	0.45353	T	0.12	-6.4851	6.6401	0.22904	0.0:0.6902:0.1471:0.1627	.	197;1751;1202;1859	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	L	1859;1859;1751;197	ENSP00000262715:V1859L;ENSP00000452574:V1751L;ENSP00000438849:V197L	ENSP00000262715:V1859L	V	-	1	0	TEP1	19916169	0.399000	0.25287	0.839000	0.33178	0.909000	0.53808	0.318000	0.19504	0.269000	0.21961	0.557000	0.71058	GTG		0.622	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		47	15	0	0	0	0	47	15				
MYH6	4624	broad.mit.edu	37	14	23866242	23866242	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:23866242C>T	ENST00000356287.3	-	17	2127	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MYH6_ENST00000405093.3_Missense_Mutation_p.V700M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	700	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCCAGCACGCCATTGCAG	0.617																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(2098-2100)GTG>ATG		myosin heavy chain 6							55.0	54.0	54.0					14																	23866242		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866242C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2098G>A	14.37:g.23866242C>T	ENSP00000348634:p.Val700Met						p.V700M	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	18	2165	-	all_cancers(95;2.54e-05)		700			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2098G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.567474	0.86439	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.75260	-0.92;-0.92	4.14	4.14	0.48551	Myosin head, motor domain (2);	.	.	.	.	D	0.86293	0.5898	M	0.80508	2.5	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.88870	0.3332	9	0.87932	D	0	.	16.9506	0.86244	0.0:1.0:0.0:0.0	.	700	P13533	MYH6_HUMAN	M	700	ENSP00000386041:V700M;ENSP00000348634:V700M	ENSP00000348634:V700M	V	-	1	0	MYH6	22936082	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.276000	0.78559	2.311000	0.77944	0.650000	0.86243	GTG		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			43	13	0	0	0	0	43	13				
NPAS3	64067	broad.mit.edu	37	14	34247672	34247672	+	Splice_Site	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:34247672G>C	ENST00000356141.4	+	9	1047	c.1047G>C	c.(1045-1047)agG>agC	p.R349S	NPAS3_ENST00000346562.2_Splice_Site_p.R317S|NPAS3_ENST00000551492.1_Splice_Site_p.R354S|NPAS3_ENST00000357798.5_Splice_Site_p.R336S|NPAS3_ENST00000548645.1_Splice_Site_p.R319S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	349	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTCTTTGTAGGATTAGTGATT	0.403																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(1045-1047)AGG>AGC		neuronal PAS domain protein 3 isoform 3							104.0	95.0	98.0					14																	34247672		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34247672G>C	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1047-1G>C	14.37:g.34247672G>C						NPAS3_uc001wrs.2_Missense_Mutation_p.R336S|NPAS3_uc001wrt.2_Missense_Mutation_p.R317S|NPAS3_uc001wrv.2_Missense_Mutation_p.R319S	p.R349S	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	9	1111	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		349			PAS 2.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1047G>C	CCDS53891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.100597|3.100597	0.56183|0.56183	.|.	.|.	ENSG00000151322|ENSG00000151322	ENST00000552874|ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	.|T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54	6.16|6.16	5.28|5.28	0.74379|0.74379	.|PAS fold-3 (1);PAS (2);	.|0.046827	.|0.85682	.|D	.|0.000000	T|T	0.38746|0.38746	0.1052|0.1052	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.45126	.|0.851;0.771;0.729;0.729	.|B;P;B;B	.|0.44422	.|0.395;0.449;0.32;0.32	T|T	0.22871|0.22871	-1.0204|-1.0204	5|9	.|.	.|.	.|.	.|.	15.3585|15.3585	0.74448|0.74448	0.0661:0.0:0.9339:0.0|0.0661:0.0:0.9339:0.0	.|.	.|319;349;317;336	.|Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.|.;NPAS3_HUMAN;.;.	A|S	96|326;354;317;319;349;336	.|ENSP00000448373:R326S;ENSP00000450392:R354S;ENSP00000319610:R317S;ENSP00000448916:R319S;ENSP00000348460:R349S;ENSP00000350446:R336S	.|.	G|R	+|+	2|3	0|2	NPAS3|NPAS3	33317423|33317423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.707000|3.707000	0.54838|0.54838	1.627000|1.627000	0.50400|0.50400	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.403	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Missense_Mutation	63	19	0	0	0	0	63	19				
MAP4K5	11183	broad.mit.edu	37	14	50912808	50912808	+	Silent	SNP	G	G	A	rs185572297		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:50912808G>A	ENST00000013125.4	-	17	1492	c.1174C>T	c.(1174-1176)Cta>Tta	p.L392L	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	392					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTAGGAGGTAGGGGAGGTGGT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		13852	0.0		0.0	False		,,,				2504	0.001					uc001wya.2		NA																	0				large_intestine(1)	1						c.(1174-1176)CTA>TTA		mitogen-activated protein kinase kinase kinase							93.0	85.0	87.0					14																	50912808		1826	4070	5896	SO:0001819	synonymous_variant	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50912808G>A	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1174C>T	14.37:g.50912808G>A						MAP4K5_uc001wyb.2_Silent_p.L392L|MAP4K5_uc010anv.1_Silent_p.L392L|MAP4K5_uc001wyc.1_Silent_p.L66L	p.L392L	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			17	1494	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		392					Q8IYF6	Silent	SNP	ENST00000013125.4	37	c.1174C>T																																																																																					0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		9	6	0	0	0	0	9	6				
RGS6	9628	broad.mit.edu	37	14	72939588	72939588	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:72939588G>A	ENST00000553530.1	+	9	752	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	RGS6_ENST00000355512.6_Missense_Mutation_p.R182Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R113Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R182Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R182Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R43Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R182Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R182Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R182Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R182Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.R182Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R182Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	182					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGATTGACCGGAAAAAAGAC	0.448																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(544-546)CGG>CAG		regulator of G-protein signalling 6							127.0	142.0	137.0					14																	72939588		2203	4300	6503	SO:0001583	missense	9628				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|signal transducer activity	g.chr14:72939588G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.545G>A	14.37:g.72939588G>A	ENSP00000452331:p.Arg182Gln					RGS6_uc010ttn.1_Missense_Mutation_p.R182Q|RGS6_uc001xmx.3_Missense_Mutation_p.R182Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R182Q|RGS6_uc010ttp.1_Missense_Mutation_p.R113Q|RGS6_uc001xmz.1_Missense_Mutation_p.R43Q|RGS6_uc010arg.2_RNA	p.R182Q	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	9	1068	+			182					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.545G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945954	0.73672	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.61;1.47;1.47;1.61;1.47;1.62;1.62;1.62;1.47;1.46;1.53;1.54	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.48642	1.525	0.58432	D	0.999999	P;B;P;P	0.51351	0.944;0.423;0.835;0.835	B;B;B;B	0.43701	0.428;0.27;0.184;0.137	T	0.18147	-1.0346	10	0.87932	D	0	-15.4873	19.2149	0.93772	0.0:0.0:1.0:0.0	.	113;182;187;182	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	Q	182;182;182;182;182;182;182;182;182;182;154;113;43;43	ENSP00000451030:R182Q;ENSP00000450936:R182Q;ENSP00000452331:R182Q;ENSP00000451855:R182Q;ENSP00000347699:R182Q;ENSP00000385243:R182Q;ENSP00000384218:R182Q;ENSP00000384612:R182Q;ENSP00000383953:R182Q;ENSP00000341199:R182Q;ENSP00000412144:R113Q;ENSP00000451912:R43Q	ENSP00000341199:R182Q	R	+	2	0	RGS6	72009341	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.883000	0.69721	2.633000	0.89246	0.650000	0.86243	CGG		0.448	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			125	56	0	0	0	0	125	56				
GALC	2581	broad.mit.edu	37	14	88411945	88411945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:88411945C>T	ENST00000261304.2	-	14	1728	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	GALC_ENST00000393569.2_Nonsense_Mutation_p.W515*|GALC_ENST00000544807.2_Nonsense_Mutation_p.W485*|GALC_ENST00000393568.4_Nonsense_Mutation_p.W518*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	541					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCGGCAGCCCATGTAATGGG	0.418																																						uc001xvt.2		NA																	0					0						c.(1621-1623)TGG>TAG		galactosylceramidase isoform a precursor							111.0	110.0	111.0					14																	88411945		1894	4103	5997	SO:0001587	stop_gained	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411945C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1622G>A	14.37:g.88411945C>T	ENSP00000261304:p.Trp541*					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Nonsense_Mutation_p.W515*|GALC_uc010tvy.1_Nonsense_Mutation_p.W518*|GALC_uc010tvz.1_Nonsense_Mutation_p.W485*	p.W541*	NM_000153	NP_000144	P54803	GALC_HUMAN			14	2021	-			541					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Nonsense_Mutation	SNP	ENST00000261304.2	37	c.1622G>A	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920494	0.92249	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9474	19.434	0.94783	0.0:1.0:0.0:0.0	.	.	.	.	X	541;485;515;330;518	.	ENSP00000261304:W541X	W	-	2	0	GALC	87481698	1.000000	0.71417	0.997000	0.53966	0.204000	0.24138	7.637000	0.83313	2.685000	0.91497	0.585000	0.79938	TGG		0.418	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			57	21	0	0	0	0	57	21				
TTC8	123016	broad.mit.edu	37	14	89338730	89338730	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:89338730C>A	ENST00000345383.5	+	12	1335	c.1251C>A	c.(1249-1251)aaC>aaA	p.N417K	TTC8_ENST00000338104.6_Missense_Mutation_p.N443K|TTC8_ENST00000346301.4_Missense_Mutation_p.N387K|TTC8_ENST00000380656.2_Missense_Mutation_p.N427K|TTC8_ENST00000354441.6_Missense_Mutation_p.N162K|TTC8_ENST00000536576.1_Missense_Mutation_p.N188K|TTC8_ENST00000358622.5_Missense_Mutation_p.N229K	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	453					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGTCAACAACAACAACCACG	0.532																																						uc010ath.2		NA																	0					0						c.(1327-1329)AAC>AAA		tetratricopeptide repeat domain 8 isoform B							129.0	109.0	116.0					14																	89338730		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338730C>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1251C>A	14.37:g.89338730C>A	ENSP00000339486:p.Asn417Lys					TTC8_uc001xxl.2_Missense_Mutation_p.N188K|TTC8_uc010ati.2_Missense_Mutation_p.N229K|TTC8_uc001xxm.2_Missense_Mutation_p.N387K|TTC8_uc010atj.2_Missense_Mutation_p.N162K|TTC8_uc001xxi.2_Missense_Mutation_p.N427K|TTC8_uc001xxj.2_Missense_Mutation_p.N417K|TTC8_uc001xxk.2_Missense_Mutation_p.N387K	p.N443K	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			13	1463	+			453			TPR 7.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1329C>A	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.68|16.68|16.68	3.189806|3.189806|3.189806	0.57909|0.57909|0.57909	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580|ENST00000554686	T;T;T;T;T;T;T|.|.	0.60920|.|.	0.15;0.54;0.15;0.15;0.54;0.15;0.15|.|.	5.59|5.59|5.59	3.4|3.4|3.4	0.38934|0.38934|0.38934	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.|.	0.043534|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.60919|0.60919|0.60919	0.2306|0.2306|0.2306	L|L|L	0.58510|0.58510|0.58510	1.815|1.815|1.815	0.58432|0.58432|0.58432	D|D|D	0.999995|0.999995|0.999995	P;B;P;P;P|.|.	0.51791|.|.	0.948;0.433;0.822;0.735;0.921|.|.	P;B;P;P;P|.|.	0.52646|.|.	0.705;0.349;0.492;0.462;0.543|.|.	T|T|T	0.58978|0.58978|0.58978	-0.7540|-0.7540|-0.7540	10|5|5	0.40728|.|.	T|.|.	0.16|.|.	-20.1096|-20.1096|-20.1096	9.6654|9.6654|9.6654	0.39981|0.39981|0.39981	0.0:0.7548:0.0:0.2452|0.0:0.7548:0.0:0.2452|0.0:0.7548:0.0:0.2452	.|.|.	162;188;453;397;427|.|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.|.	.;.;TTC8_HUMAN;.;.|.|.	K|K|K	417;188;387;443;162;427;229|216|377	ENSP00000339486:N417K;ENSP00000445067:N188K;ENSP00000298324:N387K;ENSP00000337653:N443K;ENSP00000346427:N162K;ENSP00000370031:N427K;ENSP00000351439:N229K|.|.	ENSP00000337653:N443K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	TTC8|TTC8|TTC8	88408483|88408483|88408483	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.927000|0.927000|0.927000	0.56198|0.56198|0.56198	1.786000|1.786000|1.786000	0.38694|0.38694|0.38694	1.505000|1.505000|1.505000	0.48720|0.48720|0.48720	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	AAC|CAA|ACA		0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		63	18	1	0	1.13e-26	1.54e-26	63	18				
SLC24A4	123041	broad.mit.edu	37	14	92959954	92959954	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:92959954G>A	ENST00000532405.1	+	17	2077	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	617					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACTTGCCGATGTGCCGGGAAG	0.562																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(1798-1800)ATG>ATA		solute carrier family 24 member 4 isoform 1							150.0	120.0	130.0					14																	92959954		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92959954G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1851G>A	14.37:g.92959954G>A	ENSP00000431840:p.Met617Ile					SLC24A4_uc001yai.2_Missense_Mutation_p.M553I|SLC24A4_uc010twm.1_Missense_Mutation_p.M598I|SLC24A4_uc001yaj.2_Missense_Mutation_p.M581I|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.M373I|SLC24A4_uc001yan.2_Missense_Mutation_p.M311I	p.M600I	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	17	1824	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	617			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1800G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290839	0.80914	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.68181	-0.3;0.11;0.1;-0.3;-0.31	5.51	5.51	0.81932	.	0.036642	0.85682	D	0.000000	T	0.65637	0.2710	M	0.62723	1.935	0.80722	D	1	B;B	0.28208	0.203;0.066	B;B	0.32211	0.142;0.028	T	0.62167	-0.6911	10	0.09338	T	0.73	.	19.4056	0.94646	0.0:0.0:1.0:0.0	.	598;617	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	I	553;598;617;600;581	ENSP00000376948:M553I;ENSP00000433302:M598I;ENSP00000431840:M617I;ENSP00000298877:M600I;ENSP00000337789:M581I	ENSP00000298877:M600I	M	+	3	0	SLC24A4	92029707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.751000	0.98889	2.582000	0.87167	0.655000	0.94253	ATG		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		25	2	0	0	0	0	25	2				
DICER1	23405	broad.mit.edu	37	14	95595897	95595897	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:95595897G>A	ENST00000526495.1	-	8	937	c.646C>T	c.(646-648)Cca>Tca	p.P216S	DICER1_ENST00000343455.3_Missense_Mutation_p.P216S|DICER1_ENST00000527414.1_Missense_Mutation_p.P216S|DICER1_ENST00000541352.1_Missense_Mutation_p.P216S|DICER1_ENST00000393063.1_Missense_Mutation_p.P216S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	216	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATTCCTCTGGATCACATTTC	0.373			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(646-648)CCA>TCA		dicer1							70.0	71.0	71.0					14																	95595897		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95595897G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.646C>T	14.37:g.95595897G>A	ENSP00000437256:p.Pro216Ser					DICER1_uc001ydv.2_Missense_Mutation_p.P206S|DICER1_uc001ydx.2_Missense_Mutation_p.P216S	p.P216S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	7	828	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	216			Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.646C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810197	0.70797	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.56	5.57	5.57	0.84162	DEAD-like helicase (2);	0.090855	0.85682	D	0.000000	T	0.51601	0.1684	L	0.47078	1.49	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49380	-0.8946	10	0.10111	T	0.7	-7.8522	19.9222	0.97091	0.0:0.0:1.0:0.0	.	216	Q9UPY3	DICER_HUMAN	S	216	ENSP00000343745:P216S;ENSP00000437256:P216S;ENSP00000376783:P216S;ENSP00000435681:P216S;ENSP00000444719:P216S	ENSP00000343745:P216S	P	-	1	0	DICER1	94665650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.315000	0.96313	2.779000	0.95612	0.650000	0.86243	CCA		0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			61	21	0	0	0	0	61	21				
ATG2B	55102	broad.mit.edu	37	14	96777573	96777573	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:96777573T>A	ENST00000359933.4	-	28	4935	c.4042A>T	c.(4042-4044)Acg>Tcg	p.T1348S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1348					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTGAGCACGTTCTGATATGG	0.448																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(4042-4044)ACG>TCG		ATG2 autophagy related 2 homolog B							160.0	152.0	155.0					14																	96777573		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96777573T>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4042A>T	14.37:g.96777573T>A	ENSP00000353010:p.Thr1348Ser						p.T1348S	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	28	4407	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1348					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4042A>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234009	0.79688	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	.	0.222920	0.46442	D	0.000300	T	0.33089	0.0851	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01930	-1.1245	10	0.28530	T	0.3	.	15.5924	0.76543	0.0:0.0:0.0:1.0	.	1348	Q96BY7	ATG2B_HUMAN	S	1348	ENSP00000353010:T1348S	ENSP00000353010:T1348S	T	-	1	0	ATG2B	95847326	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	7.424000	0.80242	2.084000	0.62774	0.533000	0.62120	ACG		0.448	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		113	33	0	0	0	0	113	33				
NPAP1	23742	broad.mit.edu	37	15	24921370	24921370	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:24921370C>T	ENST00000329468.2	+	1	830	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATCCCTCCTCCCAGCCGCATG	0.652																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(355-357)CCC>CTC		hypothetical protein LOC23742							58.0	48.0	51.0					15																	24921370		2203	4296	6499	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921370C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.356C>T	15.37:g.24921370C>T	ENSP00000333735:p.Pro119Leu						p.P119L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	830	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	119						Missense_Mutation	SNP	ENST00000329468.2	37	c.356C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.132	-1.112872	0.01799	.	.	ENSG00000185823	ENST00000329468	T	0.06933	3.24	2.45	-0.592	0.11671	.	1.581410	0.04529	N	0.386036	T	0.05227	0.0139	N	0.10916	0.065	0.09310	N	1	B	0.27117	0.168	B	0.31245	0.126	T	0.42515	-0.9447	10	0.30854	T	0.27	.	5.0586	0.14546	0.0:0.5247:0.0:0.4753	.	119	Q9NZP6	CO002_HUMAN	L	119	ENSP00000333735:P119L	ENSP00000333735:P119L	P	+	2	0	C15orf2	22472463	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.575000	0.05861	-0.121000	0.11787	-0.350000	0.07774	CCC		0.652	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		71	89	0	0	0	0	71	89				
NPAP1	23742	broad.mit.edu	37	15	24922340	24922340	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:24922340T>G	ENST00000329468.2	+	1	1800	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	442	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGCCTATCCCTCCACTTTCCA	0.527																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1324-1326)CCT>CCG		hypothetical protein LOC23742							150.0	136.0	140.0					15																	24922340		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922340T>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1326T>G	15.37:g.24922340T>G							p.P442P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1800	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	442			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.1326T>G	CCDS10015.1																																																																																				0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		60	100	0	0	0	0	60	100				
ATP10A	57194	broad.mit.edu	37	15	26026341	26026341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:26026341C>A	ENST00000356865.6	-	2	590	c.479G>T	c.(478-480)tGg>tTg	p.W160L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	160					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATTTCTTTCCAGAATCGGTT	0.498																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(478-480)TGG>TTG		ATPase, class V, type 10A							95.0	95.0	95.0					15																	26026341		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026341C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.479G>T	15.37:g.26026341C>A	ENSP00000349325:p.Trp160Leu						p.W160L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	585	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	160			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.479G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270349	0.80469	.	.	ENSG00000206190	ENST00000356865	T	0.74526	-0.85	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	H	0.97783	4.075	0.80722	D	1	P	0.46706	0.883	P	0.53266	0.722	D	0.93135	0.6536	10	0.72032	D	0.01	-15.9979	16.7413	0.85460	0.0:1.0:0.0:0.0	.	160	O60312	AT10A_HUMAN	L	160	ENSP00000349325:W160L	ENSP00000349325:W160L	W	-	2	0	ATP10A	23577434	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.356000	0.79445	2.428000	0.82296	0.561000	0.74099	TGG		0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		25	26	1	0	4.4e-07	4.92e-07	25	26				
BUB1B	701	broad.mit.edu	37	15	40488910	40488910	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:40488910G>A	ENST00000287598.6	+	9	1418	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	BUB1B_ENST00000412359.3_Missense_Mutation_p.G422E	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	408					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGGAGTAGGGGAATTCTCC	0.418			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(1222-1224)GGG>GAG		budding uninhibited by benzimidazoles 1 beta							104.0	104.0	104.0					15																	40488910		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40488910G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1223G>A	15.37:g.40488910G>A	ENSP00000287598:p.Gly408Glu					BUB1B_uc010ucl.1_Missense_Mutation_p.G271E	p.G408E	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	9	1435	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	408					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1223G>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	5.030	0.191291	0.09547	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.12569	2.67;2.68	5.58	3.7	0.42460	.	0.155125	0.44285	N	0.000479	T	0.07413	0.0187	L	0.35487	1.065	0.32965	D	0.521569	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.26883	-1.0090	10	0.02654	T	1	-12.3321	5.2847	0.15694	0.3844:0.0:0.6156:0.0	.	422;408	O60566-3;O60566	.;BUB1B_HUMAN	E	408;422;354	ENSP00000287598:G408E;ENSP00000398470:G422E	ENSP00000287598:G408E	G	+	2	0	BUB1B	38276202	0.977000	0.34250	0.984000	0.44739	0.989000	0.77384	2.011000	0.40922	1.362000	0.46000	0.561000	0.74099	GGG		0.418	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			4	138	0	0	0	0	4	138				
ADAL	161823	broad.mit.edu	37	15	43627996	43627996	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:43627996G>A	ENST00000562188.1	+	2	182	c.166G>A	c.(166-168)Gac>Aac	p.D56N	ADAL_ENST00000428046.3_Missense_Mutation_p.D56N|ADAL_ENST00000422466.2_Missense_Mutation_p.D56N|ADAL_ENST00000389651.4_Missense_Mutation_p.D56N			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	56					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GACTGTGATTGACAAGGGAAA	0.378																																						uc010udo.1		NA																	0					0						c.(166-168)GAC>AAC		adenosine deaminase-like isoform 1							119.0	119.0	119.0					15																	43627996		2201	4299	6500	SO:0001583	missense	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43627996G>A		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.166G>A	15.37:g.43627996G>A	ENSP00000456242:p.Asp56Asn					ADAL_uc001zrh.2_Missense_Mutation_p.D56N	p.D56N	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	5	740	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	56					A6NHZ3|B4DQM8	Missense_Mutation	SNP	ENST00000562188.1	37	c.166G>A		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255235	0.39896	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.82344	-1.6;-1.6;-1.6	5.5	5.5	0.81552	.	0.095576	0.64402	D	0.000001	T	0.78142	0.4237	L	0.47716	1.5	0.49389	D	0.999782	B;B	0.06786	0.0;0.001	B;B	0.13407	0.003;0.009	T	0.70956	-0.4731	10	0.15499	T	0.54	-9.0528	16.94	0.86215	0.0:0.0:1.0:0.0	.	56;56	B4DQM8;Q6DHV7-2	.;.	N	56	ENSP00000398744:D56N;ENSP00000413074:D56N;ENSP00000374302:D56N	ENSP00000374302:D56N	D	+	1	0	ADAL	41415288	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.770000	0.47662	2.861000	0.98227	0.655000	0.94253	GAC		0.378	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		88	110	0	0	0	0	88	110				
DUOX1	53905	broad.mit.edu	37	15	45460274	45460274	+	IGR	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:45460274C>G	ENST00000321429.4	+	0	5738				SHF_ENST00000458022.2_Silent_p.V197V|SHF_ENST00000560734.1_3'UTR|SHF_ENST00000318390.6_Silent_p.V391V|SHF_ENST00000290894.8_Silent_p.V381V|CTD-2651B20.1_ENST00000558039.1_lincRNA|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_3'UTR	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1						cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCTGGCCCAGCACATATTTGT	0.572											OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zuy.2		NA																	0				ovary(1)	1						c.(1141-1143)GTG>GTC		Src homology 2 domain containing F							69.0	75.0	73.0					15																	45460274		2069	4198	6267	SO:0001628	intergenic_variant	90525							g.chr15:45460274C>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9			15.37:g.45460274C>G			OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	SHF_uc010uen.1_Silent_p.V197V|SHF_uc010ueo.1_Silent_p.V197V|SHF_uc010uep.1_3'UTR|SHF_uc010ueq.1_Silent_p.V157V|SHF_uc010uer.1_3'UTR	p.V381V	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	8	1638	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Error:Variant_position_missing_in_B3KTY1_after_alignment					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1143G>C	CCDS32221.1																																																																																				0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		20	44	0	0	0	0	20	44				
SLC24A5	283652	broad.mit.edu	37	15	48428997	48428997	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:48428997C>A	ENST00000341459.3	+	6	781	c.708C>A	c.(706-708)gcC>gcA	p.A236A	SLC24A5_ENST00000449382.2_Silent_p.A176A	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	236					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGTCTTGCCAAAGCTATGG	0.388																																						uc001zwe.2		NA																	0					0						c.(706-708)GCC>GCA		solute carrier family 24, member 5 precursor							73.0	70.0	71.0					15																	48428997		2198	4297	6495	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48428997C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.708C>A	15.37:g.48428997C>A						SLC24A5_uc010bel.2_Silent_p.A176A|uc001zwf.1_5'Flank	p.A236A	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	6	781	+		all_lung(180;0.00217)	236			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.708C>A	CCDS10128.1																																																																																				0.388	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		28	36	1	0	4.78e-09	5.49e-09	28	36				
ATP8B4	79895	broad.mit.edu	37	15	50336882	50336882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50336882G>T	ENST00000284509.6	-	5	350	c.209C>A	c.(208-210)cCa>cAa	p.P70Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.P70Q|ATP8B4_ENST00000558959.1_5'Flank	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	70						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGAAATTTCTGGAATTAGCTG	0.353																																						uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(208-210)CCA>CAA		ATPase class I type 8B member 4							82.0	72.0	75.0					15																	50336882		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50336882G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.209C>A	15.37:g.50336882G>T	ENSP00000284509:p.Pro70Gln					ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	p.P70Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	5	351	-		all_lung(180;0.00183)	70			Extracellular (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.209C>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466566	0.84425	.	.	ENSG00000104043	ENST00000284509	T	0.73681	-0.77	5.19	5.19	0.71726	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92262	0.5818	10	0.87932	D	0	.	16.2034	0.82103	0.0:0.0:1.0:0.0	.	70	Q8TF62	AT8B4_HUMAN	Q	70	ENSP00000284509:P70Q	ENSP00000284509:P70Q	P	-	2	0	ATP8B4	48124174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.395000	0.97266	2.417000	0.82017	0.551000	0.68910	CCA		0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		22	37	1	0	1.11e-12	1.34e-12	22	37				
TRPM7	54822	broad.mit.edu	37	15	50929755	50929755	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50929755C>A	ENST00000313478.7	-	7	977	c.696G>T	c.(694-696)ctG>ctT	p.L232L	TRPM7_ENST00000560955.1_Silent_p.L232L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	232					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCAATTTGCTCAGGGGGTTCA	0.373																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(694-696)CTG>CTT		transient receptor potential cation channel,							74.0	67.0	69.0					15																	50929755		1849	4088	5937	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50929755C>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.696G>T	15.37:g.50929755C>A						TRPM7_uc010bew.1_Silent_p.L232L	p.L232L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	7	960	-			232			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.696G>T	CCDS42035.1																																																																																				0.373	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		57	57	1	0	1.55e-18	1.96e-18	57	57				
UNC13C	440279	broad.mit.edu	37	15	54307549	54307549	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307549C>A	ENST00000260323.11	+	1	2449	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q817K|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q817K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	817					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAAGCACACAGAGTCTGAG	0.428																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2449-2451)CAG>AAG		unc-13 homolog C							107.0	104.0	105.0					15																	54307549		1973	4146	6119	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307549C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2449C>A	15.37:g.54307549C>A	ENSP00000260323:p.Gln817Lys						p.Q817K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2449	+			817					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2449C>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868088	0.72065	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83506	-1.73;-1.72;-1.73	5.69	5.69	0.88448	.	.	.	.	.	D	0.86506	0.5949	L	0.29908	0.895	0.53005	D	0.999966	D	0.63880	0.993	D	0.67548	0.952	D	0.87133	0.2198	9	0.56958	D	0.05	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	817	Q8NB66	UN13C_HUMAN	K	817	ENSP00000260323:Q817K;ENSP00000438156:Q817K;ENSP00000442569:Q817K	ENSP00000260323:Q817K	Q	+	1	0	UNC13C	52094841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.681000	0.91329	0.650000	0.86243	CAG		0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		33	45	1	0	1.6e-16	2e-16	33	45				
UNC13C	440279	broad.mit.edu	37	15	54307585	54307585	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307585T>C	ENST00000260323.11	+	1	2485	c.2485T>C	c.(2485-2487)Tta>Cta	p.L829L	UNC13C_ENST00000537900.1_Silent_p.L829L|UNC13C_ENST00000545554.1_Silent_p.L829L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	829					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGCTCTTCATTAATGGGGAG	0.428																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2485-2487)TTA>CTA		unc-13 homolog C							89.0	88.0	88.0					15																	54307585		1963	4155	6118	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307585T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2485T>C	15.37:g.54307585T>C							p.L829L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2485	+			829					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.2485T>C	CCDS45264.1																																																																																				0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		40	39	0	0	0	0	40	39				
VPS13C	54832	broad.mit.edu	37	15	62312738	62312738	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:62312738C>A	ENST00000261517.5	-	9	698		c.e9-1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATCAGTGACCTACCAAAGAA	0.403																																						uc002agz.2		NA																	0				ovary(2)	2						c.e9-1		vacuolar protein sorting 13C protein isoform 2A							72.0	68.0	70.0					15																	62312738		2203	4300	6503	SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62312738C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.625-1G>T	15.37:g.62312738C>A						VPS13C_uc002aha.2_Splice_Site_p.V166_splice|VPS13C_uc002ahb.1_Splice_Site_p.V209_splice|VPS13C_uc002ahc.1_Splice_Site_p.V166_splice	p.V209_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			9	699	-									Splice_Site	SNP	ENST00000261517.5	37	c.625_splice	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644180	0.67244	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6875	0.85312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	60100030	1.000000	0.71417	0.704000	0.30370	0.776000	0.43924	5.165000	0.64959	2.540000	0.85666	0.650000	0.86243	.		0.403	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	37	45	1	0	8.69e-16	1.08e-15	37	45				
PLEKHO2	80301	broad.mit.edu	37	15	65157206	65157206	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65157206G>C	ENST00000323544.4	+	6	720	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	198	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCAACCTCGGGAGACACCCCG	0.622																																						uc002anv.2		NA																	0				ovary(1)|lung(1)	2						c.(592-594)GAG>CAG		pleckstrin homology domain containing, family O							81.0	88.0	86.0					15																	65157206		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157206G>C	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.592G>C	15.37:g.65157206G>C	ENSP00000326706:p.Glu198Gln					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.E148Q	p.E198Q	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	726	+			198			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.592G>C	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	7.884	0.730932	0.15507	.	.	ENSG00000241839	ENST00000323544;ENST00000546008	T	0.34667	1.35	5.54	4.63	0.57726	.	0.294020	0.37437	N	0.002085	T	0.24005	0.0581	L	0.29908	0.895	0.09310	N	0.999992	P;P	0.42692	0.787;0.682	B;B	0.39258	0.295;0.154	T	0.09250	-1.0683	10	0.30854	T	0.27	.	8.1158	0.30942	0.1875:0.0:0.8125:0.0	.	148;198	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	198	ENSP00000326706:E198Q	ENSP00000326706:E198Q	E	+	1	0	PLEKHO2	62944259	0.998000	0.40836	0.908000	0.35775	0.113000	0.19764	2.816000	0.48026	1.350000	0.45770	0.655000	0.94253	GAG		0.622	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		59	149	0	0	0	0	59	149				
DENND4A	10260	broad.mit.edu	37	15	65994823	65994823	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65994823T>G	ENST00000431932.2	-	17	2458	c.2250A>C	c.(2248-2250)gcA>gcC	p.A750A	DENND4A_ENST00000443035.3_Silent_p.A750A	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	750					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTACCTCTTTGCAATTTTAT	0.373																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2248-2250)GCA>GCC		DENN/MADD domain containing 4A isoform 2							71.0	64.0	66.0					15																	65994823		1827	4088	5915	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65994823T>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2250A>C	15.37:g.65994823T>G						DENND4A_uc002api.2_Silent_p.A750A|DENND4A_uc002apj.3_Silent_p.A750A	p.A750A	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			17	2628	-			750					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.2250A>C	CCDS45285.1																																																																																				0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		6	4	0	0	0	0	6	4				
ARID3B	10620	broad.mit.edu	37	15	74865224	74865224	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:74865224G>A	ENST00000346246.5	+	3	805	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	192						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 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)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTGGAGTGATGATGCAGA	0.473																																						uc002aye.2		NA																	0					0						c.(574-576)GAT>AAT		AT rich interactive domain 3B							165.0	155.0	158.0					15																	74865224		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74865224G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.574G>A	15.37:g.74865224G>A	ENSP00000343126:p.Asp192Asn					ARID3B_uc002ayc.2_Missense_Mutation_p.D192N|ARID3B_uc002ayd.2_Missense_Mutation_p.D192N	p.D192N	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			3	775	+			192					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.574G>A	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590768	0.96590	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.47869	0.83	5.95	5.95	0.96441	.	0.181944	0.47852	D	0.000219	T	0.44973	0.1319	N	0.24115	0.695	0.53688	D	0.999978	P;P;D	0.58268	0.952;0.897;0.982	P;P;P	0.49853	0.612;0.624;0.612	T	0.18023	-1.0350	10	0.28530	T	0.3	-14.6147	18.1662	0.89727	0.0:0.0:1.0:0.0	.	192;192;192	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	N	192	ENSP00000343126:D192N	ENSP00000343126:D192N	D	+	1	0	ARID3B	72652277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.824000	0.97209	0.655000	0.94253	GAT		0.473	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		35	79	0	0	0	0	35	79				
LINGO1	84894	broad.mit.edu	37	15	77907035	77907035	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:77907035T>A	ENST00000355300.6	-	2	1388	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M	LINGO1_ENST00000561030.1_Missense_Mutation_p.K399M	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	405	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTGAACTCCTTGCCCTGGAC	0.662																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(1213-1215)AAG>ATG		leucine-rich repeat neuronal 6A							18.0	24.0	22.0					15																	77907035		2092	4205	6297	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907035T>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1214A>T	15.37:g.77907035T>A	ENSP00000347451:p.Lys405Met					LINGO1_uc002bcu.1_Missense_Mutation_p.K399M	p.K405M	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1266	-			405			Extracellular (Potential).|LRRCT.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1214A>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818230	0.32145	.	.	ENSG00000169783	ENST00000355300	T	0.56275	0.47	4.93	3.81	0.43845	Cysteine-rich flanking region, C-terminal (1);	0.046851	0.85682	D	0.000000	T	0.47544	0.1451	L	0.56769	1.78	0.80722	D	1	B	0.24618	0.107	B	0.27608	0.081	T	0.48670	-0.9015	10	0.41790	T	0.15	.	9.9587	0.41682	0.0:0.0804:0.0:0.9196	.	405	Q96FE5	LIGO1_HUMAN	M	405	ENSP00000347451:K405M	ENSP00000347451:K405M	K	-	2	0	LINGO1	75694090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	1.850000	0.53721	0.379000	0.24179	AAG		0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		7	11	0	0	0	0	7	11				
BCL2A1	597	broad.mit.edu	37	15	80263104	80263104	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:80263104A>G	ENST00000267953.3	-	1	684	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	BCL2A1_ENST00000335661.6_Missense_Mutation_p.Y120H	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	120					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y120H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAACAAAATATGAAATCTCC	0.388																																						uc002bfc.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(358-360)TAT>CAT		BCL2-related protein A1 isoform 1							117.0	124.0	122.0					15																	80263104		2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263104A>G		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.358T>C	15.37:g.80263104A>G	ENSP00000267953:p.Tyr120His					BCL2A1_uc002bfd.3_Missense_Mutation_p.Y120H	p.Y120H	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			1	540	-			120					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.358T>C	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	A	4.056	0.008054	0.07912	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.11169	2.8;2.8	5.48	-1.13	0.09775	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	1.084810	0.06993	N	0.821914	T	0.06462	0.0166	N	0.16602	0.42	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.005	T	0.43032	-0.9416	10	0.33141	T	0.24	-12.9343	5.7601	0.18195	0.5215:0.0:0.3534:0.1251	.	120;120	Q86W13;Q16548	.;B2LA1_HUMAN	H	120	ENSP00000267953:Y120H;ENSP00000335250:Y120H	ENSP00000267953:Y120H	Y	-	1	0	BCL2A1	78050159	0.027000	0.19231	0.000000	0.03702	0.000000	0.00434	0.551000	0.23361	-0.189000	0.10482	-1.151000	0.01829	TAT		0.388	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		133	171	0	0	0	0	133	171				
ACAN	176	broad.mit.edu	37	15	89388786	89388786	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:89388786G>A	ENST00000561243.1	+	6	1102	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACAN_ENST00000439576.2_Missense_Mutation_p.E368K|ACAN_ENST00000352105.7_Missense_Mutation_p.E368K|ACAN_ENST00000559004.1_Missense_Mutation_p.E368K|ACAN_ENST00000558207.1_Missense_Mutation_p.E368K			P16112	PGCA_HUMAN	aggrecan	368					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGGGGTGAGGAGGACATCAC	0.572																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1102-1104)GAG>AAG		aggrecan isoform 2 precursor							56.0	65.0	62.0					15																	89388786		2138	4245	6383	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89388786G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1102G>A	15.37:g.89388786G>A	ENSP00000453342:p.Glu368Lys					ACAN_uc002bmx.2_Missense_Mutation_p.E368K|ACAN_uc010upp.1_Missense_Mutation_p.E368K|ACAN_uc002bna.2_RNA	p.E368K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1476	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		368					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1102G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407711	0.62399	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02498	4.51;4.27	5.61	5.61	0.85477	.	0.258920	0.20293	N	0.095188	T	0.05777	0.0151	M	0.72894	2.215	0.27045	N	0.963914	P;P;B	0.46395	0.877;0.877;0.005	B;B;B	0.40741	0.339;0.339;0.008	T	0.38308	-0.9667	10	0.24483	T	0.36	-10.7218	15.499	0.75680	0.0:0.0:1.0:0.0	.	368;368;368	E7ENV9;E7EX88;Q6PID9	.;.;.	K	368	ENSP00000387356:E368K;ENSP00000341615:E368K	ENSP00000268134:E368K	E	+	1	0	ACAN	87189790	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	4.994000	0.63901	2.808000	0.96608	0.655000	0.94253	GAG		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		28	38	0	0	0	0	28	38				
HS3ST4	9951	broad.mit.edu	37	16	26147209	26147209	+	Silent	SNP	G	G	T	rs540523376		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:26147209G>T	ENST00000331351.5	+	2	1403	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	337					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGATCTATGCGCTGCATCTGG	0.557																																						uc002dof.2		NA																	0				large_intestine(1)|breast(1)	2						c.(1009-1011)GCG>GCT		heparan sulfate D-glucosaminyl							178.0	167.0	171.0					16																	26147209		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147209G>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1011G>T	16.37:g.26147209G>T							p.A337A	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1403	+			337			Lumenal (Potential).		Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.1011G>T	CCDS53995.1																																																																																				0.557	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		138	44	1	0	1.37e-54	2.07e-54	138	44				
NKD1	85407	broad.mit.edu	37	16	50667328	50667328	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50667328A>G	ENST00000268459.3	+	10	1273	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	350					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGGTCCCCCAAGGCCCAGGGC	0.662																																						uc002egg.1		NA																	0					0						c.(1048-1050)AAG>AGG		naked cuticle homolog 1							44.0	52.0	49.0					16																	50667328		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667328A>G	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1049A>G	16.37:g.50667328A>G	ENSP00000268459:p.Lys350Arg						p.K350R	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1273	+		all_cancers(37;0.229)	350					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1049A>G	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979121	0.74360	.	.	ENSG00000140807	ENST00000268459	T	0.69175	-0.38	4.18	4.18	0.49190	.	0.050425	0.85682	D	0.000000	T	0.75042	0.3796	L	0.49640	1.575	0.52501	D	0.999954	D	0.67145	0.996	D	0.77557	0.99	T	0.74922	-0.3499	10	0.44086	T	0.13	-25.9578	11.9646	0.53027	1.0:0.0:0.0:0.0	.	350	Q969G9	NKD1_HUMAN	R	350	ENSP00000268459:K350R	ENSP00000268459:K350R	K	+	2	0	NKD1	49224829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.654000	0.61469	1.756000	0.51951	0.377000	0.23210	AAG		0.662	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			53	10	0	0	0	0	53	10				
CAPNS2	84290	broad.mit.edu	37	16	55601279	55601279	+	Missense_Mutation	SNP	T	T	C	rs567078741		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:55601279T>C	ENST00000457326.2	+	1	696	c.611T>C	c.(610-612)aTg>aCg	p.M204T	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	204	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GATGGAGATATGGATTTTAAC	0.478													T|||	1	0.000199681	0.0	0.0	5008	,	,		20408	0.001		0.0	False		,,,				2504	0.0					uc002eid.1		NA																	0					0						c.(610-612)ATG>ACG		calpain small subunit 2							189.0	186.0	187.0					16																	55601279		1954	4158	6112	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601279T>C	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.611T>C	16.37:g.55601279T>C	ENSP00000400882:p.Met204Thr					LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	p.M204T	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN			1	696	+			204			EF-hand 3.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.611T>C	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298276	0.60195	.	.	ENSG00000256812	ENST00000457326	T	0.46819	0.86	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.63414	0.2509	M	0.78801	2.425	0.58432	D	0.999993	P	0.51537	0.946	P	0.52481	0.7	T	0.68693	-0.5341	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	204	Q96L46	CPNS2_HUMAN	T	204	ENSP00000400882:M204T	ENSP00000400882:M204T	M	+	2	0	CAPNS2	54158780	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	7.698000	0.84413	2.288000	0.76882	0.528000	0.53228	ATG		0.478	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		198	66	0	0	0	0	198	66				
C16orf70	80262	broad.mit.edu	37	16	67168322	67168322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67168322C>T	ENST00000219139.3	+	8	801	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.R205*	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGATGTTCTTCGAGATGGAAC	0.512																																						uc002erc.2		NA																	0				ovary(2)	2						c.(613-615)CGA>TGA		lin-10							285.0	264.0	271.0					16																	67168322		2200	4300	6500	SO:0001587	stop_gained	80262							g.chr16:67168322C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.613C>T	16.37:g.67168322C>T	ENSP00000219139:p.Arg205*					C16orf70_uc002erd.2_Nonsense_Mutation_p.R205*|C16orf70_uc002ere.1_3'UTR	p.R205*	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	9	697	+		Ovarian(137;0.192)	205					Q9HA86	Nonsense_Mutation	SNP	ENST00000219139.3	37	c.613C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370453	0.82573	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9249	15.8711	0.79119	0.1684:0.8315:0.0:0.0	.	.	.	.	X	205	.	ENSP00000219139:R205X	R	+	1	2	C16orf70	65725823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.235000	0.43044	2.835000	0.97688	0.650000	0.86243	CGA		0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		246	77	0	0	0	0	246	77				
CENPT	80152	broad.mit.edu	37	16	67862385	67862385	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67862385C>T	ENST00000562787.1	-	15	2102	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	CENPT_ENST00000564817.1_Silent_p.L463L|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000440851.2_Silent_p.L518L|CENPT_ENST00000219172.3_Silent_p.L518L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	518					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		ACCGCCGCATCAGCAGCTCCA	0.562																																						uc002eun.3		NA																	0					0						c.(1552-1554)CTG>CTA		centromere protein T							102.0	113.0	110.0					16																	67862385		2083	4227	6310	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862385C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1554G>A	16.37:g.67862385C>T						CENPT_uc002eum.3_Silent_p.L463L|CENPT_uc010vkc.1_3'UTR|CENPT_uc010vkd.1_Silent_p.L271L	p.L518L	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	15	2103	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	518					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1554G>A	CCDS42182.1																																																																																				0.562	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		109	31	0	0	0	0	109	31				
DDX28	55794	broad.mit.edu	37	16	68056395	68056395	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:68056395C>A	ENST00000332395.5	-	1	1375	c.711G>T	c.(709-711)ctG>ctT	p.L237L	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	237	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GGCCTCCCTCCAGGTCCCGCA	0.657																																						uc002evh.1		NA																	0				skin(1)	1						c.(709-711)CTG>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							23.0	26.0	25.0					16																	68056395		2197	4296	6493	SO:0001819	synonymous_variant	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68056395C>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.711G>T	16.37:g.68056395C>A						DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	p.L237L	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1565	-		Ovarian(137;0.0563)	237			Helicase ATP-binding.			Silent	SNP	ENST00000332395.5	37	c.711G>T	CCDS10858.1																																																																																				0.657	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		30	8	1	0	7.68e-24	1.03e-23	30	8				
HYDIN	54768	broad.mit.edu	37	16	70989378	70989378	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:70989378C>A	ENST00000393567.2	-	40	6366	c.6216G>T	c.(6214-6216)ctG>ctT	p.L2072L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2072					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACAGCTTCCAGCACAATGG	0.557																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(6211-6213)CTG>CTT		hydrocephalus inducing isoform a							39.0	40.0	39.0					16																	70989378		1924	4122	6046	SO:0001819	synonymous_variant	54768							g.chr16:70989378C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6216G>T	16.37:g.70989378C>A							p.L2071L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			40	6341	-		Ovarian(137;0.0654)	2072					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.6213G>T	CCDS59269.1																																																																																				0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			48	15	1	0	2.95e-30	4.11e-30	48	15				
GLG1	2734	broad.mit.edu	37	16	74519693	74519693	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:74519693C>T	ENST00000422840.2	-	9	1571		c.e9+1		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGATAACTTACATTGGGTCTC	0.408																																						uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.e9+1		golgi apparatus protein 1 isoform 3							144.0	152.0	149.0					16																	74519693		2198	4300	6498	SO:0001630	splice_region_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74519693C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1571+1G>A	16.37:g.74519693C>T						GLG1_uc002fcx.2_Splice_Site_p.M524_splice|GLG1_uc002fcw.3_Splice_Site_p.M513_splice|GLG1_uc002fcz.3_Intron	p.M524_splice	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			9	1621	-								B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	ENST00000422840.2	37	c.1571_splice	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965103	0.92855	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73077194	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.		0.408	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Intron	68	23	0	0	0	0	68	23				
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	AGAGCCAACCTAGGAGATAAC	0.522		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		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(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						c.e7-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							88.0	74.0	79.0					17																	7577610		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.chr17:7577610T>C	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.673-2A>G	17.37:g.7577610T>C		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_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	p.V225_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	53	10	0	0	0	0	53	10				
MYH10	4628	broad.mit.edu	37	17	8526248	8526248	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:8526248T>C	ENST00000269243.4	-	2	455	c.317A>G	c.(316-318)aAg>aGg	p.K106R	MYH10_ENST00000396239.1_Missense_Mutation_p.K106R|MYH10_ENST00000379980.4_Missense_Mutation_p.K106R|MYH10_ENST00000360416.3_Missense_Mutation_p.K106R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	106	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTAGCGATCCTTCAGATTATG	0.343																																						uc002gll.2		NA																	0				ovary(2)	2						c.(316-318)AAG>AGG		myosin, heavy polypeptide 10, non-muscle							129.0	119.0	122.0					17																	8526248		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526248T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.317A>G	17.37:g.8526248T>C	ENSP00000269243:p.Lys106Arg					MYH10_uc002glm.2_Missense_Mutation_p.K106R|MYH10_uc010cnx.2_Missense_Mutation_p.K106R	p.K106R	NM_005964	NP_005955	P35580	MYH10_HUMAN			2	413	-			106			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.317A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568747	0.28003	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	N	0.11284	0.12	0.58432	D	0.999999	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.20184	0.028;0.016;0.028	T	0.74077	-0.3781	10	0.30854	T	0.27	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	106;106;106	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	106	ENSP00000269243:K106R;ENSP00000353590:K106R;ENSP00000379539:K106R;ENSP00000369315:K106R;ENSP00000408220:K106R	ENSP00000269243:K106R	K	-	2	0	MYH10	8466973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.018000	0.70811	1.998000	0.58463	0.459000	0.35465	AAG		0.343	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			93	112	0	0	0	0	93	112				
DHRS7C	201140	broad.mit.edu	37	17	9683345	9683345	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:9683345G>T	ENST00000330255.5	-	3	290	c.278C>A	c.(277-279)aCc>aAc	p.T93N	DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92N	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	93					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCTTTGGGGTGAATGTCTG	0.507																																						uc010vvb.1		NA																	0					0						c.(277-279)ACC>AAC		dehydrogenase/reductase (SDR family) member 7C							62.0	61.0	62.0					17																	9683345		2039	4197	6236	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9683345G>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.278C>A	17.37:g.9683345G>T	ENSP00000327975:p.Thr93Asn					DHRS7C_uc010cof.2_Missense_Mutation_p.T92N	p.T93N	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			3	278	-			93					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.278C>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074172	0.76415	.	.	ENSG00000184544	ENST00000330255	D	0.87809	-2.3	5.48	5.48	0.80851	NAD(P)-binding domain (1);	0.053388	0.85682	D	0.000000	D	0.85186	0.5639	N	0.10945	0.07	0.49299	D	0.999775	D;B	0.55800	0.973;0.31	P;B	0.60682	0.878;0.122	T	0.83214	-0.0072	10	0.18710	T	0.47	.	18.1339	0.89610	0.0:0.0:1.0:0.0	.	93;89	A6NNS2;B9EJH3	DRS7C_HUMAN;.	N	93	ENSP00000327975:T93N	ENSP00000327975:T93N	T	-	2	0	DHRS7C	9624070	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.342000	0.79310	2.567000	0.86603	0.655000	0.94253	ACC		0.507	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		16	31	1	0	6.94e-10	8.11e-10	16	31				
MYH13	8735	broad.mit.edu	37	17	10265781	10265781	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10265781G>T	ENST00000418404.3	-	3	407	c.244C>A	c.(244-246)Cct>Act	p.P82T	MYH13_ENST00000252172.4_Missense_Mutation_p.P82T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	82					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTTGGGAGGGTTCATGGGG	0.478																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(244-246)CCT>ACT		myosin, heavy polypeptide 13, skeletal muscle							282.0	257.0	266.0					17																	10265781		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265781G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.244C>A	17.37:g.10265781G>T	ENSP00000404570:p.Pro82Thr						p.P82T	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			4	334	-			82			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.244C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471121	0.84533	.	.	ENSG00000006788	ENST00000252172	T	0.73469	-0.75	4.48	4.48	0.54585	Myosin head, motor domain (1);	.	.	.	.	D	0.88209	0.6375	M	0.89163	3.01	0.54753	D	0.999981	D	0.61697	0.99	D	0.73708	0.981	D	0.90710	0.4627	9	0.87932	D	0	.	17.7093	0.88317	0.0:0.0:1.0:0.0	.	82	Q9UKX3	MYH13_HUMAN	T	82	ENSP00000252172:P82T	ENSP00000252172:P82T	P	-	1	0	MYH13	10206506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.450000	0.97607	2.488000	0.83962	0.460000	0.39030	CCT		0.478	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		94	164	1	0	1.53e-54	2.31e-54	94	164				
MYH1	4619	broad.mit.edu	37	17	10408506	10408506	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10408506C>A	ENST00000226207.5	-	21	2503	c.2409G>T	c.(2407-2409)gtG>gtT	p.V803V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	803	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGGTACTCCACTCTTGCCA	0.433																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2407-2409)GTG>GTT		myosin, heavy chain 1, skeletal muscle, adult							84.0	87.0	86.0					17																	10408506		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408506C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2409G>T	17.37:g.10408506C>A						uc002gml.1_Intron	p.V803V	NM_005963	NP_005954	P12882	MYH1_HUMAN			21	2503	-			803			IQ.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2409G>T	CCDS11155.1																																																																																				0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		44	114	1	0	1.24e-20	1.59e-20	44	114				
DNAH9	1770	broad.mit.edu	37	17	11607761	11607761	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:11607761T>C	ENST00000262442.4	+	25	5459		c.e25+2		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCAGAAGGTGGGTCCCAAA	0.522																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e25+2		dynein, axonemal, heavy chain 9 isoform 2							80.0	74.0	76.0					17																	11607761		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607761T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5391+2T>C	17.37:g.11607761T>C						DNAH9_uc010coo.2_Splice_Site_p.K1091_splice	p.K1797_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5459	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.5391_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576560	0.65878	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH9	11548486	1.000000	0.71417	0.994000	0.49952	0.735000	0.41995	7.662000	0.83803	2.269000	0.75478	0.533000	0.62120	.		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	28	55	0	0	0	0	28	55				
MEOX1	4222	broad.mit.edu	37	17	41738516	41738516	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:41738516G>A	ENST00000318579.4	-	1	806	c.387C>T	c.(385-387)ggC>ggT	p.G129G	MEOX1_ENST00000549132.1_Missense_Mutation_p.A100V|MEOX1_ENST00000393661.2_Silent_p.G14G|MEOX1_ENST00000329168.3_Silent_p.G129G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	129					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CATCGCCTGGGCCTCCTGTGG	0.627																																						uc002idz.2		NA																	0					0						c.(385-387)GGC>GGT		mesenchyme homeobox 1 isoform 1							99.0	109.0	106.0					17																	41738516		2203	4300	6503	SO:0001819	synonymous_variant	4222					nucleus	sequence-specific DNA binding	g.chr17:41738516G>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.387C>T	17.37:g.41738516G>A						MEOX1_uc002iea.2_Silent_p.G129G|MEOX1_uc002ieb.2_Silent_p.G14G	p.G129G	NM_004527	NP_004518	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	416	-		Breast(137;0.00908)	129					A8K524|A8MWF9|Q15069	Silent	SNP	ENST00000318579.4	37	c.387C>T	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405059	0.25378	.	.	ENSG00000005102	ENST00000549132	.	.	.	4.92	3.92	0.45320	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63207	-0.6689	5	0.87932	D	0	-26.9569	5.2152	0.15338	0.0987:0.0:0.5148:0.3865	.	.	.	.	V	100	.	ENSP00000449049:A100V	A	-	2	0	MEOX1	39094042	0.011000	0.17503	0.990000	0.47175	0.904000	0.53231	0.015000	0.13355	1.226000	0.43582	0.655000	0.94253	GCC		0.627	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			150	199	0	0	0	0	150	199				
GPATCH8	23131	broad.mit.edu	37	17	42476285	42476285	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42476285T>A	ENST00000591680.1	-	8	3190	c.3160A>T	c.(3160-3162)Aga>Tga	p.R1054*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.R976*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1054							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCATCTCCTCTGCCATCATCT	0.537																																						uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(3160-3162)AGA>TGA		G patch domain containing 8							141.0	114.0	124.0					17																	42476285		2203	4300	6503	SO:0001587	stop_gained	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476285T>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3160A>T	17.37:g.42476285T>A	ENSP00000467556:p.Arg1054*					GPATCH8_uc002igv.1_Nonsense_Mutation_p.R976*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.R976*	p.R1054*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3224	-		Prostate(33;0.0181)	1054					B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	37	c.3160A>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	38	6.715369	0.97784	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.01	2.68	0.31781	.	0.057105	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8346	11.7558	0.51874	0.0:0.0:0.4364:0.5636	.	.	.	.	X	1054;976	.	ENSP00000335486:R1054X	R	-	1	2	GPATCH8	39831811	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.465000	0.35299	0.346000	0.23899	0.454000	0.30748	AGA		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		55	65	0	0	0	0	55	65				
MRC2	9902	broad.mit.edu	37	17	60755933	60755933	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:60755933G>T	ENST00000303375.5	+	13	2523	c.2121G>T	c.(2119-2121)ctG>ctT	p.L707L	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	707	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCAGGAGCTGGGGGCCCAGC	0.627																																						uc002jad.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2119-2121)CTG>CTT		mannose receptor, C type 2							24.0	26.0	25.0					17																	60755933		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60755933G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2121G>T	17.37:g.60755933G>T						MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	p.L707L	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			13	2523	+			707			Extracellular (Potential).|C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2121G>T	CCDS11634.1																																																																																				0.627	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			20	31	1	0	3.01e-09	3.48e-09	20	31				
TANC2	26115	broad.mit.edu	37	17	61489388	61489388	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61489388G>A	ENST00000424789.2	+	21	3577	c.3573G>A	c.(3571-3573)atG>atA	p.M1191I	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.M1191I|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1191					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATGGGGCCATGATCGAGCACG	0.542																																						uc002jal.3		NA																	0				ovary(2)	2						c.(3571-3573)ATG>ATA		tetratricopeptide repeat, ankyrin repeat and							87.0	87.0	87.0					17																	61489388		2065	4201	6266	SO:0001583	missense	26115						binding	g.chr17:61489388G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3573G>A	17.37:g.61489388G>A	ENSP00000387593:p.Met1191Ile					TANC2_uc010wpe.1_Missense_Mutation_p.M1101I|TANC2_uc002jao.3_Missense_Mutation_p.M292I	p.M1191I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			21	3596	+			1191			ANK 10.		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.3573G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067753	0.36470	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.64260	-0.09;-0.09	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.090377	0.85682	D	0.000000	T	0.45316	0.1336	N	0.04203	-0.255	0.80722	D	1	B;B	0.15719	0.01;0.014	B;B	0.18561	0.022;0.017	T	0.32268	-0.9913	10	0.37606	T	0.19	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	1191;1191	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	I	1191	ENSP00000374171:M1191I;ENSP00000387593:M1191I	ENSP00000374171:M1191I	M	+	3	0	TANC2	58843120	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	8.032000	0.88838	2.810000	0.96702	0.585000	0.79938	ATG		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			43	41	0	0	0	0	43	41				
DDX42	11325	broad.mit.edu	37	17	61893008	61893008	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61893008G>T	ENST00000578681.1	+	17	2589	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	DDX42_ENST00000583590.1_Missense_Mutation_p.R663L|DDX42_ENST00000359353.5_Missense_Mutation_p.R544L|DDX42_ENST00000457800.2_Missense_Mutation_p.R663L|DDX42_ENST00000389924.2_Missense_Mutation_p.R663L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	663					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TACAGGGAGCGGCCTGGCCTG	0.463																																						uc002jbu.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(1987-1989)CGG>CTG		DEAD box polypeptide 42 protein							99.0	97.0	97.0					17																	61893008		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61893008G>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1988G>T	17.37:g.61893008G>T	ENSP00000464050:p.Arg663Leu					DDX42_uc002jbv.2_Missense_Mutation_p.R663L|DDX42_uc002jbx.2_Missense_Mutation_p.R399L|DDX42_uc002jby.2_Missense_Mutation_p.R209L|DDX42_uc010wps.1_Missense_Mutation_p.R31L	p.R663L	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			17	2245	+			663					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1988G>T	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705518	0.68615	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.23147	1.92;1.92	4.86	3.88	0.44766	.	0.108090	0.64402	N	0.000012	T	0.45577	0.1349	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.65987	0.91;0.94	T	0.47849	-0.9085	10	0.62326	D	0.03	-11.355	14.06	0.64793	0.0:0.0:0.8483:0.1517	.	209;663	B3KV84;Q86XP3	.;DDX42_HUMAN	L	663;663;380	ENSP00000374574:R663L;ENSP00000390121:R663L	ENSP00000352308:R380L	R	+	2	0	DDX42	59246740	1.000000	0.71417	0.999000	0.59377	0.287000	0.27160	7.738000	0.84966	1.396000	0.46663	0.563000	0.77884	CGG		0.463	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		47	101	1	0	2.75e-27	3.76e-27	47	101				
TEX2	55852	broad.mit.edu	37	17	62291206	62291206	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:62291206T>C	ENST00000583097.1	-	2	544	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TEX2_ENST00000584379.1_Silent_p.A124A|TEX2_ENST00000258991.3_Silent_p.A124A			Q8IWB9	TEX2_HUMAN	testis expressed 2	124					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTAATACTTGTGCTGCTGGAA	0.562																																						uc002jec.2		NA																	0				ovary(1)	1						c.(370-372)GCA>GCG		testis expressed sequence 2							84.0	89.0	87.0					17																	62291206		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291206T>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.372A>G	17.37:g.62291206T>C						TEX2_uc002jed.2_Silent_p.A124A|TEX2_uc002jee.2_Silent_p.A124A	p.A124A	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	545	-			124					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.372A>G																																																																																					0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		107	118	0	0	0	0	107	118				
ABCA9	10350	broad.mit.edu	37	17	67041454	67041454	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:67041454C>G	ENST00000340001.4	-	4	539	c.328G>C	c.(328-330)Gat>Cat	p.D110H	ABCA9_ENST00000453985.2_Missense_Mutation_p.D110H|ABCA9_ENST00000370732.2_Missense_Mutation_p.D110H|ABCA9_ENST00000495634.1_Missense_Mutation_p.D110H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	110					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTTTTTCATCAGGCCACCCC	0.378																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(328-330)GAT>CAT		ATP-binding cassette, sub-family A, member 9							147.0	140.0	143.0					17																	67041454		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67041454C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.328G>C	17.37:g.67041454C>G	ENSP00000342216:p.Asp110His					ABCA9_uc010dez.2_Missense_Mutation_p.D110H|ABCA9_uc002jhv.2_Missense_Mutation_p.D110H	p.D110H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			4	471	-	Breast(10;1.47e-12)		110					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.328G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906283	0.52333	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.89343	-2.5;-2.5	4.39	1.64	0.23874	.	0.000000	0.42964	U	0.000638	D	0.92057	0.7483	M	0.79258	2.445	0.20821	N	0.999843	D;D	0.76494	0.999;0.994	D;D	0.70935	0.967;0.971	D	0.83429	0.0037	10	0.72032	D	0.01	.	5.9488	0.19234	0.0:0.7054:0.0:0.2946	.	110;110	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	110;93;110;105	ENSP00000342216:D110H;ENSP00000359767:D110H	ENSP00000342216:D110H	D	-	1	0	ABCA9	64553049	0.013000	0.17824	0.932000	0.37286	0.881000	0.50899	-0.151000	0.10175	0.539000	0.28788	0.591000	0.81541	GAT		0.378	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		61	123	0	0	0	0	61	123				
TRIM47	91107	broad.mit.edu	37	17	73871028	73871028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:73871028C>A	ENST00000254816.2	-	6	1479	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Nonsense_Mutation_p.E247*	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	485	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATCTCCACCTCCCAGTAGTAG	0.647																																						uc002jpw.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1453-1455)GAG>TAG		tripartite motif-containing 47							66.0	62.0	63.0					17																	73871028		2203	4300	6503	SO:0001587	stop_gained	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73871028C>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1453G>T	17.37:g.73871028C>A	ENSP00000254816:p.Glu485*					TRIM47_uc002jpv.2_Nonsense_Mutation_p.E247*	p.E485*	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1480	-			485			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Nonsense_Mutation	SNP	ENST00000254816.2	37	c.1453G>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410248	0.97546	.	.	ENSG00000132481	ENST00000254816	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6798	0.91543	0.0:1.0:0.0:0.0	.	.	.	.	X	485	.	ENSP00000254816:E485X	E	-	1	0	TRIM47	71382623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.426000	0.82243	0.561000	0.74099	GAG		0.647	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			50	68	1	0	5.39e-20	6.91e-20	50	68				
FASN	2194	broad.mit.edu	37	17	80041269	80041269	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80041269G>A	ENST00000306749.2	-	32	5592	c.5374C>T	c.(5374-5376)Cac>Tac	p.H1792Y	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1792	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGGACCCCGTGGAATGTCACG	0.652																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(5374-5376)CAC>TAC		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						70.0	68.0	69.0					17																	80041269		2202	4296	6498	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80041269G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5374C>T	17.37:g.80041269G>A	ENSP00000304592:p.His1792Tyr					FASN_uc002kdv.1_5'Flank	p.H1792Y	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		32	5491	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1792			Enoyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.5374C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324987	0.60634	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04083	3.71	4.1	4.1	0.47936	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.111377	0.64402	D	0.000010	T	0.21550	0.0519	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01904	-1.1250	10	0.87932	D	0	-26.6816	16.4764	0.84133	0.0:0.0:1.0:0.0	.	1792	P49327	FAS_HUMAN	Y	1792;757	ENSP00000304592:H1792Y	ENSP00000304592:H1792Y	H	-	1	0	FASN	77634558	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	9.269000	0.95684	2.088000	0.63022	0.561000	0.74099	CAC		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		35	48	0	0	0	0	35	48				
CCDC57	284001	broad.mit.edu	37	17	80159756	80159756	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80159756C>T	ENST00000389641.4	-	2	101	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CCDC57_ENST00000392343.3_Missense_Mutation_p.R22K|CCDC57_ENST00000392347.1_Missense_Mutation_p.R22K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	22										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGCAGCGCCCTCCACTCCTC	0.657																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(64-66)AGG>AAG		coiled-coil domain containing 57							18.0	20.0	19.0					17																	80159756		2111	4232	6343	SO:0001583	missense	284001							g.chr17:80159756C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.65G>A	17.37:g.80159756C>T	ENSP00000374292:p.Arg22Lys					CCDC57_uc002kdx.1_Missense_Mutation_p.R22K	p.R22K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		3	420	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		22					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.65G>A		.	.	.	.	.	.	.	.	.	.	C	11.96	1.795696	0.31777	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.23147	3.1;3.1;1.92	4.98	2.58	0.30949	.	0.322521	0.26217	N	0.025657	T	0.17365	0.0417	L	0.38175	1.15	0.09310	N	0.999996	P;B	0.35507	0.506;0.172	B;B	0.40101	0.319;0.084	T	0.15607	-1.0431	10	0.06365	T	0.9	-37.6463	7.7544	0.28915	0.0:0.7501:0.0:0.2499	.	22;22	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	22	ENSP00000374292:R22K;ENSP00000376158:R22K;ENSP00000376154:R22K	ENSP00000374292:R22K	R	-	2	0	CCDC57	77753045	0.284000	0.24287	0.085000	0.20634	0.146000	0.21551	2.481000	0.45215	1.220000	0.43490	0.650000	0.86243	AGG		0.657	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		13	34	0	0	0	0	13	34				
NDC80	10403	broad.mit.edu	37	18	2610796	2610796	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:2610796G>A	ENST00000261597.4	+	16	1909	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	576	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAAGAAAGACGAAAAGTGGGA	0.378																																						uc002kli.2		NA																	0				ovary(1)	1						c.(1726-1728)CGA>CAA		kinetochore associated 2							198.0	178.0	185.0					18																	2610796		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610796G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1727G>A	18.37:g.2610796G>A	ENSP00000261597:p.Arg576Gln						p.R576Q	NM_006101	NP_006092	O14777	NDC80_HUMAN			16	1909	+			576			Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1727G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941277	0.53079	.	.	ENSG00000080986	ENST00000261597	T	0.42131	0.98	5.34	4.47	0.54385	.	0.057016	0.64402	D	0.000002	T	0.53867	0.1823	M	0.61703	1.905	0.42019	D	0.990971	D	0.89917	1.0	P	0.61874	0.895	T	0.52064	-0.8625	10	0.13108	T	0.6	-8.9476	12.7852	0.57500	0.0809:0.0:0.9191:0.0	.	576	O14777	NDC80_HUMAN	Q	576	ENSP00000261597:R576Q	ENSP00000261597:R576Q	R	+	2	0	NDC80	2600796	0.999000	0.42202	0.993000	0.49108	0.561000	0.35649	4.336000	0.59304	1.256000	0.44068	0.585000	0.79938	CGA		0.378	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		85	132	0	0	0	0	85	132				
LAMA1	284217	broad.mit.edu	37	18	7016587	7016587	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:7016587C>A	ENST00000389658.3	-	21	2985	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	964	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCCTTCATCCGTGCAGCCAT	0.592																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2890-2892)ACG>ACT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	83.0	97.0					18																	7016587		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7016587C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2892G>T	18.37:g.7016587C>A						LAMA1_uc010wzj.1_Silent_p.T440T	p.T964T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			21	2986	-		Colorectal(10;0.172)	964			Laminin EGF-like 10.			Silent	SNP	ENST00000389658.3	37	c.2892G>T	CCDS32787.1																																																																																				0.592	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		27	19	1	0	1.75e-11	2.09e-11	27	19				
TUBB6	84617	broad.mit.edu	37	18	12325303	12325303	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:12325303C>T	ENST00000317702.5	+	4	749	c.515C>T	c.(514-516)tCg>tTg	p.S172L	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	172					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GTCATGCCCTCGCCCAAGGTG	0.617																																						uc002kqw.2		NA																	0					0						c.(514-516)TCG>TTG		tubulin, beta 6							173.0	138.0	150.0					18																	12325303		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325303C>T	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.515C>T	18.37:g.12325303C>T	ENSP00000318697:p.Ser172Leu					TUBB6_uc002kqv.2_Missense_Mutation_p.S100L|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.S135L|TUBB6_uc002kqy.2_Intron	p.S172L	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	560	+			172					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.515C>T	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647042	0.67358	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.72725	-0.68	5.04	5.04	0.67666	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94074	0.7338	10	0.87932	D	0	.	18.7482	0.91802	0.0:1.0:0.0:0.0	.	144;172	B4DP54;Q9BUF5	.;TBB6_HUMAN	L	172;100;144	ENSP00000318697:S172L	ENSP00000318697:S172L	S	+	2	0	TUBB6	12315303	1.000000	0.71417	0.652000	0.29579	0.934000	0.57294	7.669000	0.83911	2.506000	0.84524	0.462000	0.41574	TCG		0.617	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		98	103	0	0	0	0	98	103				
ROCK1	6093	broad.mit.edu	37	18	18535194	18535194	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:18535194G>C	ENST00000399799.2	-	30	4465	c.3525C>G	c.(3523-3525)caC>caG	p.H1175Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1175	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGGTCTAACGTGAAACAGTT	0.289																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(3523-3525)CAC>CAG		Rho-associated, coiled-coil containing protein							16.0	16.0	16.0					18																	18535194		2180	4268	6448	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18535194G>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3525C>G	18.37:g.18535194G>C	ENSP00000382697:p.His1175Gln						p.H1175Q	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			30	4466	-	Melanoma(1;0.165)		1175			PH.|Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3525C>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944019	0.53079	.	.	ENSG00000067900	ENST00000399799	T	0.74106	-0.81	5.34	1.74	0.24563	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.83384	2.64	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.83582	0.0118	10	0.87932	D	0	.	9.2614	0.37614	0.7122:0.0:0.2878:0.0	.	1175	Q13464	ROCK1_HUMAN	Q	1175	ENSP00000382697:H1175Q	ENSP00000382697:H1175Q	H	-	3	2	ROCK1	16789192	0.995000	0.38212	1.000000	0.80357	0.963000	0.63663	0.644000	0.24766	0.346000	0.23899	-0.320000	0.08662	CAC		0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		14	23	0	0	0	0	14	23				
MAPRE2	10982	broad.mit.edu	37	18	32681988	32681988	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:32681988G>C	ENST00000300249.5	+	4	655	c.475G>C	c.(475-477)Gat>Cat	p.D159H	MAPRE2_ENST00000588910.1_Missense_Mutation_p.D159H|MAPRE2_ENST00000436190.2_Missense_Mutation_p.D147H|MAPRE2_ENST00000538170.2_Missense_Mutation_p.D106H|MAPRE2_ENST00000413393.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D116H	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	159	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAAATTCTATGATGCTAACTA	0.433																																						uc002kyg.2		NA																	0				ovary(1)	1						c.(475-477)GAT>CAT		microtubule-associated protein, RP/EB family,							96.0	85.0	89.0					18																	32681988		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32681988G>C	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.475G>C	18.37:g.32681988G>C	ENSP00000300249:p.Asp159His					MAPRE2_uc010xcb.1_Missense_Mutation_p.D116H|MAPRE2_uc010xcc.1_Missense_Mutation_p.D147H|MAPRE2_uc002kyf.2_Missense_Mutation_p.D159H|MAPRE2_uc002kyh.2_Missense_Mutation_p.D106H|MAPRE2_uc010xcd.1_Missense_Mutation_p.D116H	p.D159H	NM_014268	NP_055083	Q15555	MARE2_HUMAN			4	655	+			159			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.475G>C	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853737	0.91355	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.28	5.28	0.74379	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.993;0.996;0.987	D	0.88134	0.2840	10	0.87932	D	0	-17.6788	18.8872	0.92383	0.0:0.0:1.0:0.0	.	147;106;159;159	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	H	116;147;159;106	ENSP00000396074:D116H;ENSP00000407723:D147H;ENSP00000300249:D159H;ENSP00000446343:D106H	ENSP00000300249:D159H	D	+	1	0	MAPRE2	30935986	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.677000	0.98645	2.461000	0.83175	0.561000	0.74099	GAT		0.433	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		44	54	0	0	0	0	44	54				
LIPG	9388	broad.mit.edu	37	18	47108775	47108775	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:47108775C>T	ENST00000261292.4	+	7	1358	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	LIPG_ENST00000427224.2_Silent_p.N286N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	360	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GTTACAAGAACATGGGAGAAA	0.443																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	0				ovary(1)|skin(1)	2						c.(1078-1080)AAC>AAT		endothelial lipase precursor							158.0	126.0	137.0					18																	47108775		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108775C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1080C>T	18.37:g.47108775C>T						LIPG_uc010xdh.1_Silent_p.N286N	p.N360N	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			7	1332	+			360			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.1080C>T	CCDS11938.1																																																																																				0.443	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		43	89	0	0	0	0	43	89				
DCC	1630	broad.mit.edu	37	18	50450086	50450086	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:50450086T>A	ENST00000442544.2	+	4	1323	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DCC_ENST00000412726.1_Missense_Mutation_p.L84Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	236	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATCCAGGACTGCATAGACAG	0.363																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(706-708)CTG>CAG		netrin receptor DCC precursor							115.0	100.0	105.0					18																	50450086		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450086T>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.707T>A	18.37:g.50450086T>A	ENSP00000389140:p.Leu236Gln					DCC_uc010xdr.1_Missense_Mutation_p.L84Q	p.L236Q	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1294	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	236			Extracellular (Potential).|Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.707T>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589988	0.28357	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56444	0.65;0.46	5.67	5.67	0.87782	Immunoglobulin-like (1);	0.143619	0.34750	N	0.003716	T	0.34279	0.0892	N	0.12746	0.255	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.10450	0.002;0.005	T	0.18366	-1.0339	10	0.14656	T	0.56	.	14.8912	0.70609	0.0:0.0:0.0:1.0	.	84;236	E7EQM8;P43146	.;DCC_HUMAN	Q	236;169;84	ENSP00000389140:L236Q;ENSP00000397322:L84Q	ENSP00000304146:L169Q	L	+	2	0	DCC	48704084	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	5.771000	0.68881	2.164000	0.68074	0.533000	0.62120	CTG		0.363	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		39	97	0	0	0	0	39	97				
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	C	rs201242417		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:51013172G>C	ENST00000442544.2	+	26	4358	c.3742G>C	c.(3742-3744)Gtg>Ctg	p.V1248L	DCC_ENST00000581580.1_Missense_Mutation_p.V883L|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1248					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488																																						uc002lfe.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3742-3744)GTG>CTG		netrin receptor DCC precursor							96.0	88.0	90.0					18																	51013172		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013172G>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3742G>C	18.37:g.51013172G>C	ENSP00000389140:p.Val1248Leu					DCC_uc010dpf.1_Missense_Mutation_p.V883L	p.V1248L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4329	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1248			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3742G>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083880	0.36758	.	.	ENSG00000187323	ENST00000442544	T	0.49432	0.78	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.62282	0.2415	L	0.56769	1.78	0.54753	D	0.99998	P	0.52170	0.951	P	0.61940	0.896	T	0.55211	-0.8176	10	0.21014	T	0.42	-6.2316	17.8261	0.88666	0.0:0.0:1.0:0.0	.	1248	P43146	DCC_HUMAN	L	1248	ENSP00000389140:V1248L	ENSP00000389140:V1248L	V	+	1	0	DCC	49267170	1.000000	0.71417	0.962000	0.40283	0.522000	0.34438	8.174000	0.89682	2.499000	0.84300	0.462000	0.41574	GTG		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		80	100	0	0	0	0	80	100				
CDH7	1005	broad.mit.edu	37	18	63489364	63489364	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:63489364C>A	ENST00000397968.2	+	5	1099	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K|CDH7_ENST00000536984.2_Missense_Mutation_p.Q225K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTAAAGACCAGTATTTGCT	0.403																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(673-675)CAG>AAG		cadherin 7, type 2 preproprotein							146.0	113.0	124.0					18																	63489364		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63489364C>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.673C>A	18.37:g.63489364C>A	ENSP00000381058:p.Gln225Lys					CDH7_uc002lka.2_Missense_Mutation_p.Q225K|CDH7_uc002lkb.2_Missense_Mutation_p.Q225K	p.Q225K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			5	998	+		Esophageal squamous(42;0.129)	225			Extracellular (Potential).|Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.673C>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535866	0.64972	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51325	0.71;0.71;0.71	5.01	5.01	0.66863	Cadherin (5);Cadherin-like (1);	0.141328	0.47852	D	0.000205	T	0.23133	0.0559	N	0.02379	-0.575	0.80722	D	1	B;P	0.38335	0.066;0.627	B;B	0.27262	0.019;0.078	T	0.28459	-1.0043	10	0.49607	T	0.09	.	18.69	0.91580	0.0:1.0:0.0:0.0	.	225;225	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	225	ENSP00000319166:Q225K;ENSP00000443030:Q225K;ENSP00000381058:Q225K	ENSP00000319166:Q225K	Q	+	1	0	CDH7	61640344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.435000	0.52849	2.473000	0.83533	0.591000	0.81541	CAG		0.403	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		43	60	1	0	1.03e-13	1.25e-13	43	60				
ZNF407	55628	broad.mit.edu	37	18	72344239	72344239	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:72344239G>T	ENST00000299687.5	+	1	1264	c.1264G>T	c.(1264-1266)Gtg>Ttg	p.V422L	ZNF407_ENST00000582337.1_Missense_Mutation_p.V422L|ZNF407_ENST00000577538.1_Missense_Mutation_p.V422L|ZNF407_ENST00000309902.6_Missense_Mutation_p.V422L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAATATTCTCGTGTTGGGTAA	0.433																																						uc002llw.2		NA																	0				ovary(2)	2						c.(1264-1266)GTG>TTG		zinc finger protein 407 isoform 1							63.0	65.0	65.0					18																	72344239		1882	4121	6003	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344239G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1264G>T	18.37:g.72344239G>T	ENSP00000299687:p.Val422Leu					ZNF407_uc010xfc.1_Missense_Mutation_p.V422L|ZNF407_uc010dqu.1_Missense_Mutation_p.V422L|ZNF407_uc002llu.2_Missense_Mutation_p.V421L	p.V422L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1321	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	422					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1264G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707145	0.30232	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08546	3.08;3.53	5.39	-10.8	0.00216	.	1.100750	0.07530	U	0.912023	T	0.02380	0.0073	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.17038	0.004;0.02;0.001	B;B;B	0.13407	0.003;0.009;0.001	T	0.51631	-0.8681	10	0.12430	T	0.62	.	7.6745	0.28478	0.1658:0.078:0.566:0.1903	.	422;422;422	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	422	ENSP00000299687:V422L;ENSP00000310359:V422L	ENSP00000299687:V422L	V	+	1	0	ZNF407	70473227	0.000000	0.05858	0.002000	0.10522	0.819000	0.46315	-0.924000	0.03996	0.089000	0.17243	0.528000	0.53228	GTG		0.433	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		51	63	1	0	2.75e-27	3.76e-27	51	63				
PIP5K1C	23396	broad.mit.edu	37	19	3664871	3664871	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:3664871C>T	ENST00000335312.3	-	3	256	c.168G>A	c.(166-168)aaG>aaA	p.K56K	PIP5K1C_ENST00000539785.1_Silent_p.K56K|PIP5K1C_ENST00000589578.1_Silent_p.K56K|PIP5K1C_ENST00000537021.1_Silent_p.K56K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	56					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCAACTTCTTCCCATGGC	0.632																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1		NA																	0				stomach(2)|skin(2)	4						c.(166-168)AAG>AAA		phosphatidylinositol-4-phosphate 5-kinase, type							107.0	91.0	96.0					19																	3664871		2203	4299	6502	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3664871C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.168G>A	19.37:g.3664871C>T						PIP5K1C_uc010xhq.1_Silent_p.K56K|PIP5K1C_uc010xhr.1_Silent_p.K56K	p.K56K	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	3	225	-		Hepatocellular(1079;0.137)	56					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.168G>A	CCDS32872.1																																																																																				0.632	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		90	121	0	0	0	0	90	121				
ANKRD24	170961	broad.mit.edu	37	19	4200161	4200161	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:4200161C>T	ENST00000600132.1	+	5	612	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ANKRD24_ENST00000262970.5_Silent_p.D202D|ANKRD24_ENST00000318934.4_Silent_p.D112D	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	112										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGAGCGCGGACGGGGCAGGTA	0.652																																						uc010dtt.1		NA																	0					0						c.(334-336)GAC>GAT		ankyrin repeat domain 24							19.0	21.0	20.0					19																	4200161		1950	4130	6080	SO:0001819	synonymous_variant	170961							g.chr19:4200161C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.336C>T	19.37:g.4200161C>T						ANKRD24_uc002lzs.2_Silent_p.D83D|ANKRD24_uc002lzt.2_Silent_p.D84D	p.D112D	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	5	612	+			112					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.336C>T	CCDS45925.1																																																																																				0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		3	17	0	0	0	0	3	17				
KDM4B	23030	broad.mit.edu	37	19	5134010	5134010	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:5134010G>T	ENST00000159111.4	+	14	2241	c.2023G>T	c.(2023-2025)Gca>Tca	p.A675S	KDM4B_ENST00000536461.1_Missense_Mutation_p.A709S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	675					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTTCAACGCAGCGGCTGC	0.667																																						uc002mbq.3		NA																	0				lung(1)	1						c.(2023-2025)GCA>TCA		jumonji domain containing 2B							72.0	84.0	80.0					19																	5134010		2203	4299	6502	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5134010G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2023G>T	19.37:g.5134010G>T	ENSP00000159111:p.Ala675Ser					KDM4B_uc010xim.1_Missense_Mutation_p.A709S|KDM4B_uc002mbr.3_Missense_Mutation_p.A433S	p.A675S	NM_015015	NP_055830	O94953	KDM4B_HUMAN			14	2249	+			675					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2023G>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455539	0.43634	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.57273	0.41;0.41	3.98	3.98	0.46160	.	0.247224	0.40222	N	0.001160	T	0.59729	0.2215	M	0.77820	2.39	0.53688	D	0.999975	P;B	0.48407	0.91;0.175	P;B	0.48270	0.572;0.017	T	0.61422	-0.7066	10	0.14252	T	0.57	-24.8761	16.446	0.83932	0.0:0.0:1.0:0.0	.	709;675	F5GX28;O94953	.;KDM4B_HUMAN	S	675;709	ENSP00000159111:A675S;ENSP00000440495:A709S	ENSP00000159111:A675S	A	+	1	0	KDM4B	5085010	1.000000	0.71417	0.565000	0.28409	0.335000	0.28730	4.754000	0.62191	1.932000	0.55993	0.561000	0.74099	GCA		0.667	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		93	139	1	0	7.04e-44	1.04e-43	93	139				
CATSPERD	257062	broad.mit.edu	37	19	5727297	5727297	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:5727297C>A	ENST00000381624.3	+	3	206	c.145C>A	c.(145-147)Cct>Act	p.P49T	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	49					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GTATTTTCATCCTACAACAAC	0.308																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(145-147)CCT>ACT		transmembrane protein 146 precursor							108.0	100.0	102.0					19																	5727297		1817	4069	5886	SO:0001583	missense	257062					integral to membrane		g.chr19:5727297C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.145C>A	19.37:g.5727297C>A	ENSP00000371037:p.Pro49Thr					TMEM146_uc010duj.1_5'UTR	p.P49T	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			3	206	+			49			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.145C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.063585	0.01934	.	.	ENSG00000174898	ENST00000381624	T	0.21191	2.02	3.0	1.97	0.26223	.	.	.	.	.	T	0.08758	0.0217	N	0.08118	0	0.09310	N	0.999992	B	0.14012	0.009	B	0.11329	0.006	T	0.39901	-0.9591	9	0.15066	T	0.55	.	5.1479	0.14994	0.0:0.1379:0.0:0.8621	.	49	Q86XM0	TM146_HUMAN	T	49	ENSP00000371037:P49T	ENSP00000371037:P49T	P	+	1	0	TMEM146	5678297	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.773000	0.26661	0.542000	0.28846	-0.600000	0.04104	CCT		0.308	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		61	76	1	0	9.04e-38	1.3e-37	61	76				
TNFSF14	8740	broad.mit.edu	37	19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:6664993G>A	ENST00000599359.1	-	5	1048	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_ENST00000326176.9_Missense_Mutation_p.R187C|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.R223C(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612																																						uc002mfk.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(667-669)CGC>TGC		tumor necrosis factor ligand superfamily, member							185.0	152.0	163.0					19																	6664993		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664993G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.667C>T	19.37:g.6664993G>A	ENSP00000469049:p.Arg223Cys					TNFSF14_uc002mfj.1_Missense_Mutation_p.R187C	p.R223C	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	1049	-			223			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.667C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763719	0.31228	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.31510	1.49	4.46	-0.824	0.10812	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.337180	0.05076	N	0.482571	T	0.40743	0.1129	M	0.64997	1.995	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;P	0.54965	0.765;0.653	T	0.29701	-1.0003	10	0.66056	D	0.02	-15.216	3.0044	0.06024	0.089:0.2223:0.392:0.2967	.	223;187	O43557;O43557-2	TNF14_HUMAN;.	C	223;187	ENSP00000326940:R187C	ENSP00000245912:R223C	R	-	1	0	TNFSF14	6615993	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.442000	0.21628	0.021000	0.15133	0.561000	0.74099	CGC		0.612	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			109	155	0	0	0	0	109	155				
MUC16	94025	broad.mit.edu	37	19	9007503	9007503	+	Silent	SNP	G	G	T	rs369281815		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9007503G>T	ENST00000397910.4	-	43	39668	c.39465C>A	c.(39463-39465)ccC>ccA	p.P13155P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13157					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGGGACGGGGGATGGAG	0.463																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39463-39465)CCC>CCA		mucin 16							56.0	56.0	56.0					19																	9007503		1886	4106	5992	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9007503G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39465C>A	19.37:g.9007503G>T						MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.P13155P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			43	39669	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39465C>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	32	1	0	3.33e-07	3.73e-07	13	32				
MUC16	94025	broad.mit.edu	37	19	9026207	9026207	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9026207C>A	ENST00000397910.4	-	14	36982	c.36779G>T	c.(36778-36780)aGt>aTt	p.S12260I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12262	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGGACACTCTCCATGGT	0.552																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36778-36780)AGT>ATT		mucin 16							246.0	226.0	232.0					19																	9026207		2080	4203	6283	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9026207C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36779G>T	19.37:g.9026207C>A	ENSP00000381008:p.Ser12260Ile						p.S12260I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			14	36983	-			12262			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36779G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.711	0.132136	0.08981	.	.	ENSG00000181143	ENST00000397910	T	0.27557	1.66	2.39	-4.78	0.03209	.	.	.	.	.	T	0.19327	0.0464	L	0.36672	1.1	.	.	.	B	0.22080	0.064	B	0.15484	0.013	T	0.14254	-1.0479	8	0.87932	D	0	.	5.4631	0.16627	0.0:0.1898:0.45:0.3602	.	12260	B5ME49	.	I	12260	ENSP00000381008:S12260I	ENSP00000381008:S12260I	S	-	2	0	MUC16	8887207	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.031000	0.00637	-1.953000	0.01026	0.195000	0.17529	AGT		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		143	192	1	0	6.37e-58	9.67e-58	143	192				
MUC16	94025	broad.mit.edu	37	19	9072003	9072003	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9072003G>T	ENST00000397910.4	-	3	15646	c.15443C>A	c.(15442-15444)cCc>cAc	p.P5148H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5150	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGCTTTGGGTGTCTCTGA	0.458																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15442-15444)CCC>CAC		mucin 16							206.0	200.0	202.0					19																	9072003		2046	4207	6253	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072003G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15443C>A	19.37:g.9072003G>T	ENSP00000381008:p.Pro5148His						p.P5148H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15647	-			5150			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15443C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.065	-0.414404	0.04766	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	1.73	-0.874	0.10631	.	.	.	.	.	T	0.16214	0.0390	L	0.29908	0.895	.	.	.	B	0.16603	0.018	B	0.09377	0.004	T	0.18461	-1.0336	8	0.87932	D	0	.	6.099	0.20037	0.0:0.0:0.4618:0.5382	.	5148	B5ME49	.	H	5148	ENSP00000381008:P5148H	ENSP00000381008:P5148H	P	-	2	0	MUC16	8933003	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.089000	0.03376	-0.096000	0.12329	0.121000	0.15741	CCC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		132	167	1	0	5.81e-51	8.72e-51	132	167				
ILF3	3609	broad.mit.edu	37	19	10794209	10794209	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:10794209T>C	ENST00000590261.1	+	14	1842	c.1842T>C	c.(1840-1842)ttT>ttC	p.F614F	ILF3_ENST00000589998.1_Silent_p.F614F|ILF3_ENST00000318511.3_Silent_p.F614F|ILF3_ENST00000592763.1_Silent_p.F618F|ILF3_ENST00000420083.1_Silent_p.F614F|ILF3_ENST00000449870.1_Silent_p.F618F|ILF3_ENST00000250241.8_Silent_p.F614F|ILF3_ENST00000407004.3_Silent_p.F618F|ILF3_ENST00000588657.1_Silent_p.F618F			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	614	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GACCGAAATTTGCTGCTAAGG	0.537																																						uc002mpn.2		NA																	0				ovary(3)	3						c.(1840-1842)TTT>TTC		interleukin enhancer binding factor 3 isoform a							62.0	72.0	69.0					19																	10794209		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10794209T>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1842T>C	19.37:g.10794209T>C						ILF3_uc002mpm.2_Silent_p.F618F|ILF3_uc002mpl.2_Silent_p.F614F|ILF3_uc002mpk.2_Silent_p.F614F|ILF3_uc010xli.1_Silent_p.F212F|ILF3_uc002mpo.2_Silent_p.F618F|ILF3_uc002mpp.2_Silent_p.F439F|ILF3_uc002mpq.2_5'Flank	p.F614F	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2159	+			614			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.1842T>C	CCDS12246.1																																																																																				0.537	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			75	118	0	0	0	0	75	118				
RGL3	57139	broad.mit.edu	37	19	11510943	11510943	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:11510943T>C	ENST00000380456.3	-	14	1578	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P	RGL3_ENST00000393423.3_Silent_p.P505P|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	505	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGGAGGCAGCTGGTGGCTCAA	0.612																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	0				ovary(1)	1						c.(1513-1515)CCA>CCG		ral guanine nucleotide dissociation							72.0	69.0	70.0					19																	11510943		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11510943T>C	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1515A>G	19.37:g.11510943T>C						RGL3_uc002mrn.2_Silent_p.P269P|RGL3_uc002mrm.2_Silent_p.P269P|RGL3_uc002mro.2_Silent_p.P505P	p.P505P	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			14	1579	-			505			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.1515A>G	CCDS32910.1																																																																																				0.612	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		44	83	0	0	0	0	44	83				
ZNF442	79973	broad.mit.edu	37	19	12461204	12461204	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:12461204G>A	ENST00000242804.4	-	6	1777	c.1195C>T	c.(1195-1197)Cac>Tac	p.H399Y	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.H330Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCTCCAGTGTGCATTATCATA	0.428																																						uc002mtr.1		NA																	0				large_intestine(2)|breast(1)|kidney(1)	4						c.(1195-1197)CAC>TAC		zinc finger protein 442							207.0	194.0	198.0					19																	12461204		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461204G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1195C>T	19.37:g.12461204G>A	ENSP00000242804:p.His399Tyr					ZNF442_uc010xmk.1_Missense_Mutation_p.H330Y	p.H399Y	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1806	-			399			C2H2-type 8.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1195C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206330	0.58343	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.67523	-0.27;-0.27	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83064	0.5173	M	0.93978	3.48	0.31502	N	0.664636	D	0.76494	0.999	D	0.87578	0.998	T	0.80070	-0.1536	9	0.72032	D	0.01	.	7.4953	0.27485	0.0:0.0:1.0:0.0	.	399	Q9H7R0	ZN442_HUMAN	Y	399;330	ENSP00000242804:H399Y;ENSP00000388634:H330Y	ENSP00000242804:H399Y	H	-	1	0	ZNF442	12322204	1.000000	0.71417	0.114000	0.21550	0.672000	0.39443	4.113000	0.57851	0.737000	0.32582	0.313000	0.20887	CAC		0.428	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		168	241	0	0	0	0	168	241				
WIZ	58525	broad.mit.edu	37	19	15558935	15558935	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:15558935C>A	ENST00000389282.4	-	2	397	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	WIZ_ENST00000263381.7_Missense_Mutation_p.D62Y|MIR1470_ENST00000600745.1_RNA			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	62					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCTCTGCCATCCAGAATGTCT	0.627																																						uc002nbb.3		NA																	0					0						c.(184-186)GAT>TAT		widely-interspaced zinc finger motifs							69.0	74.0	72.0					19																	15558935		1953	4135	6088	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15558935C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.184G>T	19.37:g.15558935C>A	ENSP00000373933:p.Asp62Tyr					MIR1470_hsa-mir-1470|MI0007075_5'Flank	p.D62Y	NM_021241	NP_067064	O95785	WIZ_HUMAN			2	398	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.184G>T		.	.	.	.	.	.	.	.	.	.	C	18.60	3.658011	0.67586	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.05786	3.39	3.67	3.67	0.42095	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00389	-1.1770	8	0.54805	T	0.06	-7.9851	11.0863	0.48089	0.0:1.0:0.0:0.0	.	62	O95785-2	.	Y	62	ENSP00000373933:D62Y	ENSP00000263381:D62Y	D	-	1	0	WIZ	15419935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.043000	0.60533	0.561000	0.74099	GAT		0.627	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		88	135	1	0	7.22e-40	1.05e-39	88	135				
EPS15L1	58513	broad.mit.edu	37	19	16532206	16532206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:16532206C>A	ENST00000248070.6	-	10	1013	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	EPS15L1_ENST00000597937.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000594975.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000455140.2_Missense_Mutation_p.G292C|EPS15L1_ENST00000602009.1_Missense_Mutation_p.G138C|EPS15L1_ENST00000535753.2_Missense_Mutation_p.G292C	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	292	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCACGTAGCCATCCAGGTCC	0.537																																						uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(874-876)GGC>TGC		epidermal growth factor receptor pathway							148.0	124.0	133.0					19																	16532206		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16532206C>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.874G>T	19.37:g.16532206C>A	ENSP00000248070:p.Gly292Cys					EPS15L1_uc002ndx.2_Missense_Mutation_p.G292C|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.G182C|EPS15L1_uc010xpf.1_Missense_Mutation_p.G195C|EPS15L1_uc002nea.1_Missense_Mutation_p.G292C|EPS15L1_uc010eah.1_Missense_Mutation_p.G292C|EPS15L1_uc002neb.1_Missense_Mutation_p.G138C|EPS15L1_uc002nec.1_Missense_Mutation_p.G292C	p.G292C	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			10	880	-			292			EH 3.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.874G>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332705	0.81801	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.56275	0.47;0.47;0.47	4.74	4.74	0.60224	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	H	0.98682	4.3	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;1.0	D	0.90501	0.4474	10	0.87932	D	0	.	16.7093	0.85381	0.0:1.0:0.0:0.0	.	292;292;291;292;292;292	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	C	292	ENSP00000393313:G292C;ENSP00000248070:G292C;ENSP00000440103:G292C	ENSP00000248070:G292C	G	-	1	0	EPS15L1	16393206	1.000000	0.71417	0.982000	0.44146	0.817000	0.46193	7.666000	0.83877	2.202000	0.70862	0.460000	0.39030	GGC		0.537	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		57	58	1	0	3.17e-14	3.88e-14	57	58				
OCEL1	79629	broad.mit.edu	37	19	17337113	17337113	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17337113G>C	ENST00000215061.4	+	1	101	c.57G>C	c.(55-57)caG>caC	p.Q19H	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_5'Flank|OCEL1_ENST00000601529.1_Missense_Mutation_p.Q19H	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	19										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGGAGCTCCAGACGCTGGGAC	0.692																																						uc002nfp.2		NA																	0				central_nervous_system(1)	1						c.(55-57)CAG>CAC		occludin/ELL domain containing 1							22.0	25.0	24.0					19																	17337113		2201	4299	6500	SO:0001583	missense	79629							g.chr19:17337113G>C	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.57G>C	19.37:g.17337113G>C	ENSP00000215061:p.Gln19His						p.Q19H	NM_024578	NP_078854	Q9H607	OCEL1_HUMAN			1	59	+			19						Missense_Mutation	SNP	ENST00000215061.4	37	c.57G>C	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007077	0.35415	.	.	ENSG00000099330	ENST00000215061	T	0.32272	1.46	2.71	-0.83	0.10792	.	1.764010	0.04168	U	0.324242	T	0.14743	0.0356	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.20240	-1.0281	10	0.44086	T	0.13	-13.5451	2.202	0.03926	0.3189:0.0:0.4345:0.2466	.	19	Q9H607	OCEL1_HUMAN	H	19	ENSP00000215061:Q19H	ENSP00000215061:Q19H	Q	+	3	2	OCEL1	17198113	0.237000	0.23815	0.121000	0.21740	0.330000	0.28571	0.151000	0.16283	-0.072000	0.12864	0.491000	0.48974	CAG		0.692	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		3	12	0	0	0	0	3	12				
FCHO1	23149	broad.mit.edu	37	19	17886888	17886888	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17886888G>T	ENST00000596536.1	+	16	1383	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L	FCHO1_ENST00000600676.1_Missense_Mutation_p.R367L|FCHO1_ENST00000597512.1_Missense_Mutation_p.R374L|FCHO1_ENST00000389133.4_Missense_Mutation_p.R367L|FCHO1_ENST00000252771.7_Missense_Mutation_p.R367L|FCHO1_ENST00000596951.1_Missense_Mutation_p.R367L|FCHO1_ENST00000539407.1_Missense_Mutation_p.R367L|FCHO1_ENST00000594202.1_Missense_Mutation_p.R367L|FCHO1_ENST00000595033.1_Missense_Mutation_p.R317L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	367	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCCCCGGCCCGGGCTCCAGCC	0.697																																						uc010ebb.2		NA																	0				breast(1)	1						c.(1099-1101)CGG>CTG		FCH domain only 1 isoform b							41.0	44.0	43.0					19																	17886888		2203	4298	6501	SO:0001583	missense	23149							g.chr19:17886888G>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1100G>T	19.37:g.17886888G>T	ENSP00000470731:p.Arg367Leu					FCHO1_uc002nhg.3_Missense_Mutation_p.R367L|FCHO1_uc002nhh.2_Missense_Mutation_p.R367L|FCHO1_uc010xpw.1_Missense_Mutation_p.R317L|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	p.R367L	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			15	1289	+			367					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1100G>T	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433889	0.43224	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.33438	1.41;1.41;1.41	4.58	3.44	0.39384	.	0.171581	0.48767	D	0.000171	T	0.27454	0.0674	L	0.46157	1.445	0.37125	D	0.901015	P;P	0.42620	0.678;0.785	B;B	0.40565	0.179;0.333	T	0.31779	-0.9931	10	0.49607	T	0.09	-13.8871	11.4017	0.49875	0.0:0.2018:0.7982:0.0	.	367;367	O14526;O14526-2	FCHO1_HUMAN;.	L	367	ENSP00000252771:R367L;ENSP00000373785:R367L;ENSP00000437978:R367L	ENSP00000252771:R367L	R	+	2	0	FCHO1	17747888	1.000000	0.71417	0.677000	0.29947	0.866000	0.49608	4.199000	0.58426	2.078000	0.62432	0.491000	0.48974	CGG		0.697	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		56	63	1	0	8.77e-35	1.25e-34	56	63				
ZNF253	56242	broad.mit.edu	37	19	20002455	20002455	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:20002455C>G	ENST00000589717.1	+	4	491	c.399C>G	c.(397-399)aaC>aaG	p.N133K	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.N57K|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	133					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGACTTAACCAATGTTTGA	0.323																																						uc002noj.2		NA																	0					0						c.(397-399)AAC>AAG		zinc finger protein 253							60.0	62.0	62.0					19																	20002455		2142	4279	6421	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002455C>G	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.399C>G	19.37:g.20002455C>G	ENSP00000468720:p.Asn133Lys					ZNF253_uc002nok.2_Missense_Mutation_p.N57K|ZNF253_uc002nol.2_RNA	p.N133K	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	491	+			133					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.399C>G	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	3.440	-0.114358	0.06881	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.4	-2.81	0.05805	.	.	.	.	.	T	0.16128	0.0388	N	0.25286	0.73	0.09310	N	1	P	0.49862	0.929	B	0.42386	0.386	T	0.11665	-1.0578	7	.	.	.	.	3.2454	0.06796	0.0:0.4111:0.2372:0.3517	.	133	O75346	ZN253_HUMAN	K	133	.	.	N	+	3	2	ZNF253	19863455	0.099000	0.21834	0.040000	0.18447	0.040000	0.13550	-0.154000	0.10130	-0.722000	0.04922	-0.708000	0.03648	AAC		0.323	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		28	66	0	0	0	0	28	66				
ZNF493	284443	broad.mit.edu	37	19	21607279	21607279	+	Silent	SNP	T	T	C	rs537126271		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:21607279T>C	ENST00000355504.4	+	2	1700	c.1434T>C	c.(1432-1434)tgT>tgC	p.C478C	ZNF493_ENST00000392288.2_Silent_p.C606C|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	478					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTGAAGAATGTGGCAAAGCTT	0.333													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.0					uc002npx.2		NA																	0				ovary(1)	1						c.(1432-1434)TGT>TGC		zinc finger protein 493 isoform 1							33.0	34.0	34.0					19																	21607279		2201	4299	6500	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607279T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1434T>C	19.37:g.21607279T>C						ZNF493_uc002npw.2_Silent_p.C606C|ZNF493_uc002npy.2_Silent_p.C478C	p.C478C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1714	+			478			C2H2-type 17.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1434T>C	CCDS12412.1																																																																																				0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		25	39	0	0	0	0	25	39				
DPY19L3	147991	broad.mit.edu	37	19	32973120	32973120	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:32973120G>T	ENST00000342179.5	+	19	2340	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	DPY19L3_ENST00000586987.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.V709F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	709						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACCTTCCACGTTTACAAGCT	0.458																																						uc002ntg.2		NA																	0				ovary(4)	4						c.(2125-2127)GTT>TTT		dpy-19-like 3							135.0	137.0	136.0					19																	32973120		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32973120G>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.2125G>T	19.37:g.32973120G>T	ENSP00000344937:p.Val709Phe					DPY19L3_uc002nth.1_Missense_Mutation_p.V709F|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.V131F	p.V709F	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			19	2301	+	Esophageal squamous(110;0.162)		709					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.2125G>T	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549745	0.96501	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.62639	0.01;0.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84263	0.0484	10	0.87932	D	0	-23.1938	20.3495	0.98807	0.0:0.0:1.0:0.0	.	709	Q6ZPD9	D19L3_HUMAN	F	709	ENSP00000376081:V709F;ENSP00000344937:V709F	ENSP00000344937:V709F	V	+	1	0	DPY19L3	37664960	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.759000	0.85235	2.814000	0.96858	0.591000	0.81541	GTT		0.458	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		102	157	1	0	1.34e-64	2.04e-64	102	157				
RHPN2	85415	broad.mit.edu	37	19	33482784	33482784	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33482784A>T	ENST00000254260.3	-	13	1624	c.1589T>A	c.(1588-1590)tTg>tAg	p.L530*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.L379*|RHPN2_ENST00000588683.1_5'Flank	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	530	PDZ.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTCCCTCTCAAGGTGAACCC	0.537																																						uc002nuf.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(1588-1590)TTG>TAG		rhophilin, Rho GTPase binding protein 2							73.0	64.0	67.0					19																	33482784		2203	4300	6503	SO:0001587	stop_gained	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33482784A>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1589T>A	19.37:g.33482784A>T	ENSP00000254260:p.Leu530*					RHPN2_uc010xro.1_Nonsense_Mutation_p.L379*|RHPN2_uc002nue.2_Nonsense_Mutation_p.L260*	p.L530*	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			13	1655	-	Esophageal squamous(110;0.137)		530			PDZ.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Nonsense_Mutation	SNP	ENST00000254260.3	37	c.1589T>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	A	41	9.129515	0.99075	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1434	0.59448	1.0:0.0:0.0:0.0	.	.	.	.	X	530;260;379	.	ENSP00000254260:L530X	L	-	2	0	RHPN2	38174624	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	6.759000	0.74934	1.999000	0.58509	0.533000	0.62120	TTG		0.537	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		46	90	0	0	0	0	46	90				
LRP3	4037	broad.mit.edu	37	19	33696633	33696633	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33696633C>T	ENST00000253193.7	+	5	1159	c.957C>T	c.(955-957)gaC>gaT	p.D319D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	319	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCGCGGGGACCGCCTGCTGC	0.711																																						uc010edh.2		NA																	0				pancreas(2)|ovary(1)	3						c.(955-957)GAC>GAT		low density lipoprotein receptor-related protein							9.0	13.0	12.0					19																	33696633		2168	4241	6409	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696633C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.957C>T	19.37:g.33696633C>T						LRP3_uc010xrp.1_Silent_p.D193D|LRP3_uc002nuk.3_Silent_p.D193D	p.D319D	NM_002333	NP_002324	O75074	LRP3_HUMAN			5	1050	+	Esophageal squamous(110;0.137)		319			Extracellular (Potential).|CUB 2.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.957C>T	CCDS12430.1																																																																																				0.711	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			6	11	0	0	0	0	6	11				
CD22	933	broad.mit.edu	37	19	35828817	35828817	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:35828817C>T	ENST00000085219.5	+	5	944	c.878C>T	c.(877-879)aCg>aTg	p.T293M	CD22_ENST00000536635.2_Missense_Mutation_p.T293M|CD22_ENST00000544992.2_Missense_Mutation_p.T293M|CD22_ENST00000419549.2_Missense_Mutation_p.T121M|CD22_ENST00000270311.6_Missense_Mutation_p.T173M|CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATACATTCACGCTAAACCTG	0.562																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0		p.T293T(1)		ovary(5)|lung(3)|breast(1)	9						c.(877-879)ACG>ATG		CD22 molecule precursor	OspA lipoprotein(DB00045)						111.0	77.0	89.0					19																	35828817		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35828817C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.878C>T	19.37:g.35828817C>T	ENSP00000085219:p.Thr293Met					CD22_uc010xst.1_Missense_Mutation_p.T121M|CD22_uc010edu.2_Missense_Mutation_p.T293M|CD22_uc010edv.2_Missense_Mutation_p.T293M|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	p.T293M	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	955	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		293			Extracellular (Potential).|Ig-like C2-type 2.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.878C>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	c	7.736	0.700280	0.15106	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.02	-10.0	0.00425	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.996050	0.02096	N	0.053512	T	0.09247	0.0228	L	0.51914	1.62	0.09310	N	1	B;P;P;P	0.40681	0.156;0.72;0.727;0.575	B;B;B;B	0.36378	0.223;0.082;0.197;0.179	T	0.13899	-1.0492	10	0.49607	T	0.09	.	0.6816	0.00876	0.2343:0.2664:0.1502:0.3491	.	121;293;293;293	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	M	293;293;293;173;121	ENSP00000085219:T293M;ENSP00000442279:T293M;ENSP00000441237:T293M;ENSP00000270311:T173M;ENSP00000403822:T121M	ENSP00000085219:T293M	T	+	2	0	CD22	40520657	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.386000	0.00489	-3.954000	0.00087	-3.240000	0.00051	ACG		0.562	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		32	48	0	0	0	0	32	48				
NPHS1	4868	broad.mit.edu	37	19	36341873	36341873	+	Silent	SNP	G	G	A	rs386833947|rs386833948		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36341873G>A	ENST00000378910.5	-	4	515	c.516C>T	c.(514-516)acC>acT	p.T172T	NPHS1_ENST00000353632.6_Silent_p.T172T|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	172	Ig-like C2-type 2.		Missing (in NPHS1). {ECO:0000269|PubMed:11317351, ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGAGAATGGTGATGTCAG	0.602																																						uc002oby.2		NA																	0				ovary(4)|skin(1)	5	GRCh37	CD087053	NPHS1	D		c.(514-516)ACC>ACT		nephrin precursor							68.0	52.0	58.0					19																	36341873		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36341873G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.516C>T	19.37:g.36341873G>A							p.T172T	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	516	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		172		Missing (in NPHS1).	Ig-like C2-type 2.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.516C>T	CCDS32996.1																																																																																				0.602	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			21	28	0	0	0	0	21	28				
ZNF566	84924	broad.mit.edu	37	19	36964331	36964331	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36964331T>C	ENST00000434377.2	-	3	120	c.39A>G	c.(37-39)gtA>gtG	p.V13V	ZNF566_ENST00000392170.2_Silent_p.V13V|ZNF566_ENST00000424129.2_Silent_p.V13V|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000454319.1_Silent_p.V13V|ZNF566_ENST00000493391.1_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGAGAAGTCTACGGACACAT	0.388																																						uc002oea.3		NA																	0					0						c.(37-39)GTA>GTG		zinc finger protein 566 isoform 1							152.0	140.0	144.0					19																	36964331		2203	4300	6503	SO:0001819	synonymous_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36964331T>C	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.39A>G	19.37:g.36964331T>C						ZNF566_uc010xte.1_Silent_p.V13V|ZNF566_uc010xtf.1_Silent_p.V13V|ZNF566_uc002oeb.3_Silent_p.V13V|ZNF566_uc002oec.3_Intron|ZNF566_uc010xtg.1_Intron	p.V13V	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			3	121	-	Esophageal squamous(110;0.162)		13			KRAB.		B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	c.39A>G	CCDS12494.1																																																																																				0.388	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		84	133	0	0	0	0	84	133				
RYR1	6261	broad.mit.edu	37	19	38934789	38934789	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:38934789G>A	ENST00000359596.3	+	6	425	c.425G>A	c.(424-426)gGa>gAa	p.G142E	RYR1_ENST00000360985.3_Splice_Site_p.G142E|RYR1_ENST00000355481.4_Splice_Site_p.G142E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	142	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCACCCATAGGAGAGGCTTGC	0.612																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(424-426)GGA>GAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						60.0	55.0	57.0					19																	38934789		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934789G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.425-1G>A	19.37:g.38934789G>A						RYR1_uc002oiu.2_Missense_Mutation_p.G142E	p.G142E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	555	+	all_cancers(60;7.91e-06)		142			Cytoplasmic.|MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.425G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923421	0.52653	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91011	-2.77;-2.77;-2.77	4.14	4.14	0.48551	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	U	0.000002	D	0.94997	0.8381	M	0.84511	2.7	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94965	0.8112	9	.	.	.	.	11.7637	0.51918	0.0:0.0:1.0:0.0	.	142;142	P21817-2;P21817	.;RYR1_HUMAN	E	142	ENSP00000352608:G142E;ENSP00000347667:G142E;ENSP00000354254:G142E	.	G	+	2	0	RYR1	43626629	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.293000	0.96082	2.145000	0.66743	0.448000	0.29417	GGA		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	20	34	0	0	0	0	20	34				
CYP2B6	1555	broad.mit.edu	37	19	41515933	41515933	+	Missense_Mutation	SNP	A	A	T	rs146617126	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:41515933A>T	ENST00000324071.4	+	6	864	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	286					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTCAGCCACCAGAACCTCAAC	0.562																																						uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.(856-858)CAG>CTG		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						168.0	120.0	136.0					19																	41515933		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515933A>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.857A>T	19.37:g.41515933A>T	ENSP00000324648:p.Gln286Leu					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.Q286L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	864	+			286					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.857A>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.072259	0.36566	.	.	ENSG00000197408	ENST00000324071	T	0.68331	-0.32	4.58	-7.16	0.01516	.	0.575113	0.17269	N	0.180456	T	0.43478	0.1249	L	0.35487	1.065	0.09310	N	1	B	0.32283	0.362	B	0.24701	0.055	T	0.16689	-1.0394	10	0.66056	D	0.02	.	7.6889	0.28557	0.3512:0.2183:0.4305:0.0	.	286	P20813	CP2B6_HUMAN	L	286	ENSP00000324648:Q286L	ENSP00000324648:Q286L	Q	+	2	0	CYP2B6	46207773	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.134000	0.15932	-2.091000	0.00858	-0.708000	0.03648	CAG		0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		43	62	0	0	0	0	43	62				
DMRTC2	63946	broad.mit.edu	37	19	42352590	42352590	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:42352590C>A	ENST00000269945.3	+	4	492	c.441C>A	c.(439-441)ccC>ccA	p.P147P	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.P147P	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	147	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGACACCCCCCGGGAAGGTAA	0.607																																						uc002ors.2		NA																	0					0						c.(439-441)CCC>CCA		DMRT-like family C2							21.0	21.0	21.0					19																	42352590		2199	4299	6498	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352590C>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.441C>A	19.37:g.42352590C>A						DMRTC2_uc002orr.1_Missense_Mutation_p.P11Q|DMRTC2_uc010xwe.1_Silent_p.P147P	p.P147P	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			4	524	+			147			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.441C>A	CCDS33034.1																																																																																				0.607	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		6	22	1	0	8.13e-05	8.7e-05	6	22				
ZNF578	147660	broad.mit.edu	37	19	53013842	53013843	+	Missense_Mutation	DNP	AT	AT	TG			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53013842_53013843AT>TG	ENST00000421239.2	+	6	452_453	c.208_209AT>TG	c.(208-210)ATg>TGg	p.M70W	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTCCAAACGCATGATGAAGGAG	0.371																																						uc002pzp.3		NA																	0					0						c.(208-210)ATG>TGG		zinc finger protein 578																																				SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53013842_53013843AT>TG	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	Exception_encountered	19.37:g.53013842_53013843delinsTG	ENSP00000459216:p.Met70Trp						p.M70W	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	452_453	+			Error:Variant_position_missing_in_Q96N58_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	DNP	ENST00000421239.2	37	c.208_209AT>TG	CCDS54310.1																																																																																				0.371	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		111	214	0	0	0	0	111	214				
ZNF320	162967	broad.mit.edu	37	19	53384177	53384177	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53384177G>A	ENST00000595635.1	-	8	1703	c.1202C>T	c.(1201-1203)gCa>gTa	p.A401V	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A401V	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTGATGACATGCGAGGTACGC	0.388																																						uc002qag.2		NA																	0					0						c.(1201-1203)GCA>GTA		zinc finger protein 320							86.0	81.0	83.0					19																	53384177		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384177G>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1202C>T	19.37:g.53384177G>A	ENSP00000473091:p.Ala401Val					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.A347V|ZNF320_uc002qai.2_Missense_Mutation_p.A401V	p.A401V	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1393	-			401			C2H2-type 9.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1202C>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	1.438	-0.568518	0.03910	.	.	ENSG00000182986	ENST00000391781	T	0.35605	1.3	1.74	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	N	0.13371	0.34	0.09310	N	1	B	0.31879	0.344	B	0.21708	0.036	T	0.14896	-1.0456	9	0.40728	T	0.16	.	0.2939	0.00262	0.292:0.202:0.3015:0.2045	.	401	A2RRD8	ZN320_HUMAN	V	401	ENSP00000375660:A401V	ENSP00000375660:A401V	A	-	2	0	ZNF320	58075989	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.875000	0.00718	-0.375000	0.07955	0.184000	0.17185	GCA		0.388	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		61	114	0	0	0	0	61	114				
ZNF761	388561	broad.mit.edu	37	19	53959133	53959133	+	RNA	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53959133A>G	ENST00000454407.1	+	0	1825							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCCATCGTAGACGTCATAC	0.388																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(1372-1374)AGA>GGA		zinc finger protein 761							103.0	108.0	106.0					19																	53959133		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959133A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959133A>G						ZNF761_uc010ydy.1_Missense_Mutation_p.R404G|ZNF761_uc002qbt.1_Missense_Mutation_p.R404G	p.R458G	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1830	+			458			C2H2-type 9.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1372A>G																																																																																					0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		76	104	0	0	0	0	76	104				
NLRP12	91662	broad.mit.edu	37	19	54314439	54314439	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:54314439G>T	ENST00000324134.6	-	3	642	c.474C>A	c.(472-474)acC>acA	p.T158T	NLRP12_ENST00000351894.4_Silent_p.T158T|NLRP12_ENST00000391775.3_Silent_p.T158T|NLRP12_ENST00000391773.1_Silent_p.T158T|NLRP12_ENST00000345770.5_Silent_p.T158T|NLRP12_ENST00000535162.1_Silent_p.T158T|NLRP12_ENST00000391772.1_Silent_p.T158T|NLRP12_ENST00000354278.3_Silent_p.T158T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	158					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCAGGAGCCGGGTGTACCGGT	0.617																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(472-474)ACC>ACA		NLR family, pyrin domain containing 12 isoform							82.0	79.0	80.0					19																	54314439		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314439G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.474C>A	19.37:g.54314439G>T						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.T158T|NLRP12_uc002qcj.3_Silent_p.T158T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T158T	p.T158T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	694	-	Ovarian(34;0.19)		158					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.474C>A	CCDS12864.1																																																																																				0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		93	128	1	0	8.65e-51	1.3e-50	93	128				
NLRP2	55655	broad.mit.edu	37	19	55494535	55494535	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:55494535G>C	ENST00000543010.1	+	6	1612	c.1469G>C	c.(1468-1470)cGc>cCc	p.R490P	NLRP2_ENST00000427260.2_Missense_Mutation_p.R467P|NLRP2_ENST00000448584.2_Missense_Mutation_p.R490P|NLRP2_ENST00000538819.1_Missense_Mutation_p.R466P|NLRP2_ENST00000391721.4_Missense_Mutation_p.R466P|NLRP2_ENST00000537859.1_Missense_Mutation_p.R468P|NLRP2_ENST00000263437.6_Missense_Mutation_p.R487P|NLRP2_ENST00000339757.7_Missense_Mutation_p.R468P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	490	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACATCCTCCGCCAGGACAGA	0.602																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(1468-1470)CGC>CCC		NLR family, pyrin domain containing 2							37.0	37.0	37.0					19																	55494535		2203	4294	6497	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494535G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1469G>C	19.37:g.55494535G>C	ENSP00000445135:p.Arg490Pro					NLRP2_uc010yfp.1_Missense_Mutation_p.R467P|NLRP2_uc010esn.2_Missense_Mutation_p.R466P|NLRP2_uc010eso.2_Missense_Mutation_p.R487P|NLRP2_uc010esp.2_Missense_Mutation_p.R468P	p.R490P	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1555	+			490			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1469G>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716866	0.30413	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75260	-0.88;-0.82;-0.82;-0.88;-0.82;-0.92;-0.82;-0.88	1.9	-0.364	0.12553	.	2.234570	0.02607	N	0.101652	T	0.75547	0.3864	L	0.44542	1.39	0.09310	N	1	B;D;D;D;D	0.65815	0.136;0.995;0.991;0.984;0.991	B;P;P;P;P	0.59424	0.05;0.857;0.723;0.857;0.723	T	0.57997	-0.7714	10	0.36615	T	0.2	.	1.5698	0.02612	0.4953:0.0:0.2052:0.2996	.	467;468;487;466;490	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	P	490;466;468;490;468;467;466;487	ENSP00000445135:R490P;ENSP00000375601:R466P;ENSP00000344074:R468P;ENSP00000409370:R490P;ENSP00000440601:R468P;ENSP00000402474:R467P;ENSP00000441133:R466P;ENSP00000263437:R487P	ENSP00000263437:R487P	R	+	2	0	NLRP2	60186347	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.467000	0.06664	-0.145000	0.11294	-0.378000	0.06908	CGC		0.602	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		49	77	0	0	0	0	49	77				
NLRP5	126206	broad.mit.edu	37	19	56539566	56539566	+	Missense_Mutation	SNP	C	C	A	rs200093654		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56539566C>A	ENST00000390649.3	+	7	1967	c.1967C>A	c.(1966-1968)cCc>cAc	p.P656H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	656					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGGCTGTCCCGTTCCCCTG	0.597																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1966-1968)CCC>CAC		NACHT, LRR and PYD containing protein 5		C	HIS/PRO	1,3989		0,1,1994	62.0	65.0	64.0		1967	-0.3	0.0	19		64	4,8304		0,4,4150	yes	missense	NLRP5	NM_153447.4	77	0,5,6144	AA,AC,CC		0.0481,0.0251,0.0407	probably-damaging	656/1201	56539566	5,12293	1995	4154	6149	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539566C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1967C>A	19.37:g.56539566C>A	ENSP00000375063:p.Pro656His					NLRP5_uc002qmi.2_Missense_Mutation_p.P637H	p.P656H	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1967	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	656					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1967C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854004	0.32791	2.51E-4	4.81E-4	ENSG00000171487	ENST00000390649	D	0.87966	-2.32	3.26	-0.354	0.12591	.	0.459334	0.16378	N	0.217013	D	0.88559	0.6469	M	0.62723	1.935	0.09310	N	1	D	0.61080	0.989	P	0.61201	0.885	T	0.78846	-0.2043	10	0.48119	T	0.1	.	6.4756	0.22034	0.191:0.4672:0.3418:0.0	.	656	P59047	NALP5_HUMAN	H	656	ENSP00000375063:P656H	ENSP00000375063:P656H	P	+	2	0	NLRP5	61231378	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.547000	0.06055	0.036000	0.15547	0.561000	0.74099	CCC		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		77	113	1	0	5.22e-30	7.26e-30	77	113				
ZNF582	147948	broad.mit.edu	37	19	56895725	56895725	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56895725A>G	ENST00000301310.4	-	5	1219	c.1061T>C	c.(1060-1062)cTt>cCt	p.L354P	ZNF582_ENST00000586929.1_Missense_Mutation_p.L354P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	354					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATGTCGTATAAGAGTTGAGCC	0.418																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1060-1062)CTT>CCT		zinc finger protein 582							91.0	91.0	91.0					19																	56895725		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895725A>G	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1061T>C	19.37:g.56895725A>G	ENSP00000301310:p.Leu354Pro					ZNF582_uc002qmy.2_Missense_Mutation_p.L385P	p.L354P	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1220	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	354			C2H2-type 7.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.1061T>C	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390053	0.61956	.	.	ENSG00000018869	ENST00000301310	T	0.53857	0.6	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32244	N	0.006370	T	0.75547	0.3864	M	0.89785	3.06	0.46609	D	0.999126	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80750	-0.1243	10	0.87932	D	0	.	11.7251	0.51704	1.0:0.0:0.0:0.0	.	354;385	Q96NG8;B4DQZ9	ZN582_HUMAN;.	P	354	ENSP00000301310:L354P	ENSP00000301310:L354P	L	-	2	0	ZNF582	61587537	0.764000	0.28473	0.044000	0.18714	0.012000	0.07955	4.105000	0.57797	2.013000	0.59113	0.533000	0.62120	CTT		0.418	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		105	135	0	0	0	0	105	135				
ZNF835	90485	broad.mit.edu	37	19	57176253	57176253	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57176253C>A	ENST00000537055.2	-	2	545	c.314G>T	c.(313-315)gGc>gTc	p.G105V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	105					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCTTGGGGCCTCCACCTCT	0.632																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(379-381)GGC>GTC		zinc finger protein 835							51.0	61.0	58.0					19																	57176253		2157	4275	6432	SO:0001583	missense	90485							g.chr19:57176253C>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.314G>T	19.37:g.57176253C>A	ENSP00000444747:p.Gly105Val					ZNF835_uc010ygn.1_Missense_Mutation_p.G105V	p.G127V	NM_001005850	NP_001005850					2	380	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.380G>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	7.203	0.593907	0.13875	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.22	-0.0664	0.13764	.	.	.	.	.	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	1	P	0.37688	0.605	B	0.31442	0.13	T	0.37979	-0.9682	9	0.59425	D	0.04	.	2.9889	0.05977	0.0:0.5157:0.2984:0.1859	.	127	Q9Y2P0	ZN835_HUMAN	V	127;105	ENSP00000444747:G105V	ENSP00000341756:G127V	G	-	2	0	ZNF835	61868065	.	.	0.001000	0.08648	0.006000	0.05464	.	.	0.262000	0.21774	0.561000	0.74099	GGC		0.632	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		26	43	1	0	7.01e-11	8.31e-11	26	43				
ZNF548	147694	broad.mit.edu	37	19	57910559	57910559	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57910559G>T	ENST00000366197.5	+	3	1154	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.V314F	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	302					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)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATCAGAGAGTTCACACCGG	0.458																																						uc002qom.2		NA																	0				breast(1)	1						c.(904-906)GTT>TTT		zinc finger protein 548							74.0	75.0	75.0					19																	57910559		2200	4300	6500	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910559G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.904G>T	19.37:g.57910559G>T	ENSP00000379482:p.Val302Phe					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.V305F	p.V302F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1154	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	302			C2H2-type 4.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.904G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412332	0.62511	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.08102	3.13;3.13	2.44	-0.963	0.10330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	L	0.28556	0.865	0.09310	N	1	P;P	0.38250	0.571;0.624	B;B	0.31614	0.082;0.133	T	0.35400	-0.9790	9	0.49607	T	0.09	.	3.8909	0.09119	0.5252:0.2031:0.2717:0.0	.	314;302	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	F	314;302	ENSP00000337555:V314F;ENSP00000379482:V302F	ENSP00000337555:V314F	V	+	1	0	ZNF548	62602371	0.000000	0.05858	0.003000	0.11579	0.926000	0.56050	-3.746000	0.00377	0.001000	0.14605	-0.136000	0.14681	GTT		0.458	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		38	65	1	0	4.63e-21	5.98e-21	38	65				
ZSCAN1	284312	broad.mit.edu	37	19	58549383	58549383	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58549383G>C	ENST00000282326.1	+	3	426	c.179G>C	c.(178-180)tGg>tCg	p.W60S	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.W60S|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.W60S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.W60*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCAGCTCTGGACGCTGTGC	0.711																																						uc002qrc.1		NA																	1	Substitution - Nonsense(1)		NS(1)	ovary(2)	2						c.(178-180)TGG>TCG		zinc finger and SCAN domain containing 1							14.0	15.0	15.0					19																	58549383		2179	4268	6447	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549383G>C	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.179G>C	19.37:g.58549383G>C	ENSP00000282326:p.Trp60Ser					ZSCAN1_uc002qra.1_Missense_Mutation_p.W60S|ZSCAN1_uc002qrb.1_Missense_Mutation_p.W60S	p.W60S	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	426	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	60			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.179G>C	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259589	0.23051	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04083	3.71;3.71	2.09	-0.308	0.12773	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10551	0.0258	L	0.49778	1.585	0.09310	N	1	D;D	0.61697	0.99;0.981	P;P	0.61940	0.896;0.642	T	0.20075	-1.0286	9	0.59425	D	0.04	.	4.518	0.11945	0.3701:0.0:0.6299:0.0	.	60;60	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	S	60	ENSP00000375581:W60S;ENSP00000282326:W60S	ENSP00000282326:W60S	W	+	2	0	ZSCAN1	63241195	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.670000	0.25157	-0.142000	0.11354	-0.501000	0.04562	TGG		0.711	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		8	7	0	0	0	0	8	7				
ZNF497	162968	broad.mit.edu	37	19	58868799	58868799	+	Missense_Mutation	SNP	C	C	A	rs201241256	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58868799C>A	ENST00000311044.3	-	3	391	c.203G>T	c.(202-204)gGa>gTa	p.G68V	ZNF497_ENST00000425453.3_Missense_Mutation_p.G68V|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGGGGCCTCCCTGTTCGTC	0.746													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		11362	0.0		0.0	False		,,,				2504	0.0					uc002qsh.1		NA																	0				central_nervous_system(2)	2						c.(202-204)GGA>GTA		zinc finger protein 497							6.0	8.0	7.0					19																	58868799		1835	3787	5622	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868799C>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.203G>T	19.37:g.58868799C>A	ENSP00000311183:p.Gly68Val					A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.G68V|uc002qsj.1_Missense_Mutation_p.S57Y|uc002qsk.1_5'Flank	p.G68V	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	392	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	68					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.203G>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068485	0.36470	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.07216	3.21;3.21	1.61	-0.889	0.10580	.	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.40683	-0.9550	9	0.72032	D	0.01	.	2.2276	0.03988	0.2985:0.5018:0.0:0.1997	.	68	Q6ZNH5	ZN497_HUMAN	V	68	ENSP00000311183:G68V;ENSP00000402815:G68V	ENSP00000311183:G68V	G	-	2	0	ZNF497	63560611	0.001000	0.12720	0.001000	0.08648	0.171000	0.22731	1.476000	0.35420	-0.151000	0.11176	0.205000	0.17691	GGA		0.746	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		6	11	1	0	0.000442599	0.000468102	6	11				
NTSR2	23620	broad.mit.edu	37	2	11802345	11802345	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:11802345C>A	ENST00000306928.5	-	2	680	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	216					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AAGGGGAGCACGAAGGACACC	0.647																																						uc002rbq.3		NA																	0					0						c.(646-648)GTG>TTG		neurotensin receptor 2	Levocabastine(DB01106)						91.0	100.0	97.0					2																	11802345		2203	4298	6501	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802345C>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.646G>T	2.37:g.11802345C>A	ENSP00000303686:p.Val216Leu						p.V216L	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	720	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		216			Extracellular (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.646G>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712956	0.48517	.	.	ENSG00000169006	ENST00000306928	T	0.72394	-0.65	4.32	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.680336	0.12766	N	0.440957	T	0.59998	0.2235	L	0.31157	0.91	0.33196	D	0.551465	B	0.29115	0.233	B	0.33521	0.165	T	0.63363	-0.6654	10	0.30078	T	0.28	-16.4373	10.6914	0.45872	0.0:0.8044:0.1956:0.0	.	216	O95665	NTR2_HUMAN	L	216	ENSP00000303686:V216L	ENSP00000303686:V216L	V	-	1	0	NTSR2	11719796	0.940000	0.31905	0.997000	0.53966	0.992000	0.81027	0.372000	0.20467	1.082000	0.41137	0.462000	0.41574	GTG		0.647	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			99	146	1	0	1.91e-35	2.73e-35	99	146				
APOB	338	broad.mit.edu	37	2	21242655	21242655	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:21242655G>A	ENST00000233242.1	-	19	3066	c.2939C>T	c.(2938-2940)gCt>gTt	p.A980V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	980					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAGTAAGCGCCTGAGGT	0.552																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2938-2940)GCT>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						137.0	119.0	125.0					2																	21242655		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21242655G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2939C>T	2.37:g.21242655G>A	ENSP00000233242:p.Ala980Val						p.A980V	NM_000384	NP_000375	P04114	APOB_HUMAN			19	3067	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		980					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2939C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717847	0.48622	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14391	2.51	5.23	3.26	0.37387	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.491256	0.18903	N	0.127996	T	0.09202	0.0227	L	0.40543	1.245	0.09310	N	0.999994	B	0.29955	0.263	B	0.23275	0.045	T	0.23619	-1.0183	10	0.29301	T	0.29	.	5.2877	0.15710	0.127:0.0:0.3106:0.5624	.	980	P04114	APOB_HUMAN	V	980	ENSP00000233242:A980V	ENSP00000233242:A980V	A	-	2	0	APOB	21096160	0.000000	0.05858	0.649000	0.29536	0.779000	0.44077	0.440000	0.21592	1.177000	0.42855	0.655000	0.94253	GCT		0.552	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			32	33	0	0	0	0	32	33				
CCDC85A	114800	broad.mit.edu	37	2	56602977	56602977	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:56602977T>A	ENST00000407595.2	+	5	1981	c.1479T>A	c.(1477-1479)gcT>gcA	p.A493A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	493										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCAGGGGCTGATGGGAGTA	0.408																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(1477-1479)GCT>GCA		coiled-coil domain containing 85A							108.0	103.0	105.0					2																	56602977		1924	4129	6053	SO:0001819	synonymous_variant	114800							g.chr2:56602977T>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1479T>A	2.37:g.56602977T>A							p.A493A	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	1981	+			493						Silent	SNP	ENST00000407595.2	37	c.1479T>A	CCDS46290.1																																																																																				0.408	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			49	57	0	0	0	0	49	57				
ATP6V1B1	525	broad.mit.edu	37	2	71189914	71189914	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71189914C>G	ENST00000234396.4	+	9	866	c.793C>G	c.(793-795)Cgg>Ggg	p.R265G	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R265G|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	265					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGGATCGAGCGGATCATCAC	0.582																																						uc002shj.2		NA																	0				skin(1)	1						c.(793-795)CGG>GGG		ATPase, H+ transporting, lysosomal 56/58kDa, V1																																				SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71189914C>G	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.793C>G	2.37:g.71189914C>G	ENSP00000234396:p.Arg265Gly					ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R265G|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.R223G	p.R265G	NM_001692	NP_001683	P15313	VATB1_HUMAN			9	880	+			265					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.793C>G	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788555	0.70337	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.84070	-1.8;-1.8	5.41	2.28	0.28536	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000011	D	0.92704	0.7681	H	0.95187	3.635	0.54753	D	0.999988	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.93816	0.7114	10	0.87932	D	0	-21.5629	11.874	0.52537	0.5024:0.4976:0.0:0.0	.	240;265;265	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	G	265;240;265	ENSP00000234396:R265G;ENSP00000388353:R265G	ENSP00000234396:R265G	R	+	1	2	ATP6V1B1	71043422	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.555000	0.36277	1.266000	0.44231	0.650000	0.86243	CGG		0.582	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		35	83	0	0	0	0	35	83				
PAIP2B	400961	broad.mit.edu	37	2	71429712	71429712	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71429712C>A	ENST00000244221.8	-	2	174	c.8G>T	c.(7-9)gGa>gTa	p.G3V		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	3					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						CATATTGGATCCATTCATTAT	0.378																																						uc002shu.2		NA																	0					0						c.(7-9)GGA>GTA		poly(A) binding protein interacting protein 2B							133.0	124.0	127.0					2																	71429712		1857	4118	5975	SO:0001583	missense	400961				negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding	g.chr2:71429712C>A		CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.8G>T	2.37:g.71429712C>A	ENSP00000244221:p.Gly3Val						p.G3V	NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN			2	195	-			3						Missense_Mutation	SNP	ENST00000244221.8	37	c.8G>T	CCDS46322.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671706	0.67928	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.13	4.24	0.50183	.	0.119134	0.56097	N	0.000025	T	0.67767	0.2928	L	0.57536	1.79	0.80722	D	1	D	0.60160	0.987	P	0.59825	0.864	T	0.70872	-0.4754	9	0.66056	D	0.02	-5.4791	12.9167	0.58211	0.1639:0.8361:0.0:0.0	.	3	Q9ULR5	PAI2B_HUMAN	V	3	.	ENSP00000244221:G3V	G	-	2	0	PAIP2B	71283220	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.724000	0.47285	1.268000	0.44264	0.563000	0.77884	GGA		0.378	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330547.2	XM_376062		78	87	1	0	1.25e-41	1.83e-41	78	87				
REG1A	5967	broad.mit.edu	37	2	79348763	79348763	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:79348763G>T	ENST00000233735.1	+	3	243	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	47	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGCTCCTACTGCTACTACTTT	0.542																																						uc002snz.2		NA																	0					0						c.(139-141)TGC>TTC		regenerating islet-derived 1 alpha precursor							173.0	168.0	170.0					2																	79348763		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348763G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.140G>T	2.37:g.79348763G>T	ENSP00000233735:p.Cys47Phe					REG1A_uc010ffx.1_Missense_Mutation_p.C47F|REG1A_uc010ysd.1_Missense_Mutation_p.C47F	p.C47F	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	243	+			47			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.140G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.041448	0.75732	.	.	ENSG00000115386	ENST00000233735	T	0.18657	2.2	2.85	2.85	0.33270	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.42682	D	0.000666	T	0.43055	0.1230	H	0.97340	3.985	0.39649	D	0.970447	D;D	0.65815	0.995;0.995	P;P	0.46940	0.532;0.532	T	0.63651	-0.6589	10	0.87932	D	0	.	9.368	0.38237	0.0:0.0:1.0:0.0	.	47;47	A8K7G6;P05451	.;REG1A_HUMAN	F	47	ENSP00000233735:C47F	ENSP00000233735:C47F	C	+	2	0	REG1A	79202271	0.977000	0.34250	0.866000	0.34008	0.780000	0.44128	3.635000	0.54309	1.892000	0.54788	0.563000	0.77884	TGC		0.542	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		133	199	1	0	1.39e-51	2.09e-51	133	199				
CTNNA2	1496	broad.mit.edu	37	2	80136777	80136777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:80136777G>T	ENST00000402739.4	+	6	915	c.910G>T	c.(910-912)Gag>Tag	p.E304*	CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E338*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E304*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	304					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCGTCCCTGGAGGAGAGGCT	0.592																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(910-912)GAG>TAG		catenin, alpha 2 isoform 1							60.0	65.0	64.0					2																	80136777		1989	4189	6178	SO:0001587	stop_gained	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136777G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.910G>T	2.37:g.80136777G>T	ENSP00000384638:p.Glu304*					CTNNA2_uc010yse.1_Nonsense_Mutation_p.E304*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.E304*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.E304*	p.E304*	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	915	+			304					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37	c.910G>T		.	.	.	.	.	.	.	.	.	.	G	41	9.076647	0.99057	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	304;304;338;304;304;304	.	ENSP00000355398:E338X	E	+	1	0	CTNNA2	79990285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.860000	0.99555	2.652000	0.90054	0.591000	0.81541	GAG		0.592	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		60	107	1	0	5.41e-41	7.91e-41	60	107				
TMEM150A	129303	broad.mit.edu	37	2	85829067	85829067	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:85829067G>T	ENST00000409668.1	-	1	472	c.5C>A	c.(4-6)aCc>aAc	p.T2N	TMEM150A_ENST00000306353.3_5'UTR|TMEM150A_ENST00000334462.5_Missense_Mutation_p.T2N			Q86TG1	T150A_HUMAN	transmembrane protein 150A	2					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GATCCAGGCGGTCATGAGGGA	0.612																																						uc002spw.1		NA																	0					0						c.(4-6)ACC>AAC		transmembrane protein 150A isoform 1							127.0	139.0	135.0					2																	85829067		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85829067G>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.5C>A	2.37:g.85829067G>T	ENSP00000387292:p.Thr2Asn					USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_5'UTR|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Missense_Mutation_p.T2N	p.T2N	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN			1	726	-			2					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.5C>A	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672647	0.88348	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.44881	0.91;0.91	5.02	5.02	0.67125	.	0.049450	0.85682	D	0.000000	T	0.39784	0.1091	N	0.22421	0.69	0.53688	D	0.999976	P	0.50156	0.932	P	0.50860	0.652	T	0.08146	-1.0736	10	0.27785	T	0.31	-16.0861	15.8801	0.79197	0.0:0.0:1.0:0.0	.	2	Q86TG1	T150A_HUMAN	N	2	ENSP00000334708:T2N;ENSP00000387292:T2N	ENSP00000334708:T2N	T	-	2	0	TMEM150A	85682578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.280000	0.89903	2.606000	0.88127	0.455000	0.32223	ACC		0.612	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		168	257	1	0	1.85e-90	2.84e-90	168	257				
AFF3	3899	broad.mit.edu	37	2	100625330	100625330	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:100625330G>T	ENST00000409236.2	-	3	230	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	AFF3_ENST00000317233.4_Missense_Mutation_p.Q40K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q65K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q65K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	40					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCATCCTGTTGAGTTTCTTGA	0.403																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(118-120)CAA>AAA		AF4/FMR2 family, member 3 isoform 1							326.0	276.0	293.0					2																	100625330		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100625330G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.118C>A	2.37:g.100625330G>T	ENSP00000387207:p.Gln40Lys					AFF3_uc002taf.2_Missense_Mutation_p.Q65K|AFF3_uc010fiq.1_Missense_Mutation_p.Q40K|AFF3_uc010yvr.1_Missense_Mutation_p.Q194K|AFF3_uc002tah.1_Missense_Mutation_p.Q65K|AFF3_uc010fir.1_Missense_Mutation_p.Q117K|AFF3_uc002tai.2_5'Flank	p.Q40K	NM_002285	NP_002276	P51826	AFF3_HUMAN			4	354	-			40					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.118C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370944	0.82573	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445	T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	T	0.80899	0.4712	M	0.64170	1.965	0.35178	D	0.77218	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.69654	0.965;0.941;0.949;0.941	D	0.83973	0.0328	10	0.62326	D	0.03	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	194;194;40;65	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	K	40;65;65;40;40;194;65;40;40;40;40;40;117	ENSP00000317421:Q40K;ENSP00000348793:Q65K;ENSP00000386834:Q65K;ENSP00000387207:Q40K;ENSP00000406484:Q40K;ENSP00000396582:Q40K;ENSP00000399795:Q40K;ENSP00000411383:Q40K;ENSP00000395068:Q40K;ENSP00000393732:Q117K	ENSP00000317421:Q40K	Q	-	1	0	AFF3	99991762	1.000000	0.71417	0.557000	0.28306	0.973000	0.67179	6.455000	0.73497	2.836000	0.97738	0.655000	0.94253	CAA		0.403	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		18	26	1	0	3.33e-07	3.73e-07	18	26				
RGPD3	653489	broad.mit.edu	37	2	107042508	107042508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:107042508G>T	ENST00000409886.3	-	19	2729	c.2642C>A	c.(2641-2643)tCa>tAa	p.S881*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S881*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	881					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATATGCTGGTGACTGACTATA	0.308																																						uc010ywi.1		NA																	0				ovary(1)	1						c.(2641-2643)TCA>TAA		RANBP2-like and GRIP domain containing 3							13.0	16.0	15.0					2																	107042508		692	1566	2258	SO:0001587	stop_gained	653489				intracellular transport		binding	g.chr2:107042508G>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2642C>A	2.37:g.107042508G>T	ENSP00000386588:p.Ser881*						p.S881*	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			19	2699	-			881					B8ZZM4	Nonsense_Mutation	SNP	ENST00000409886.3	37	c.2642C>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	39	7.415405	0.98269	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3641	10.737	0.46130	0.0:0.0:1.0:0.0	.	.	.	.	X	881;639;881	.	ENSP00000303659:S881X	S	-	2	0	RGPD3	106408940	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	8.958000	0.93099	1.390000	0.46547	0.186000	0.17326	TCA		0.308	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		38	153	1	0	1.33e-27	1.82e-27	38	153				
CFAP221	200373	broad.mit.edu	37	2	120413946	120413946	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:120413946A>G	ENST00000413369.3	+	24	2510	c.2423A>G	c.(2422-2424)aAa>aGa	p.K808R	PCDP1_ENST00000602047.1_Missense_Mutation_p.K522R	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AGAGAAGTGAAAGATCAAGCA	0.498																																						uc002tmb.2		NA																	0					0						c.(1564-1566)AAA>AGA		primary ciliary dyskinesia protein 1							80.0	80.0	80.0					2																	120413946		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120413946A>G																												ENST00000413369.3:c.2423A>G	2.37:g.120413946A>G	ENSP00000393222:p.Lys808Arg						p.K522R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			25	2657	+	Colorectal(110;0.196)		808						Missense_Mutation	SNP	ENST00000413369.3	37	c.1565A>G	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.19|11.19	1.564328|1.564328	0.27915|0.27915	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972|ENST00000295220;ENST00000413369	T|T	0.31247|0.32272	1.5|1.46	4.68|4.68	-1.81|-1.81	0.07882|0.07882	.|.	0.284890|0.284890	0.30667|0.30667	N|N	0.009139|0.009139	T|T	0.16300|0.16300	0.0392|0.0392	L|L	0.38175|0.38175	1.15|1.15	0.33781|0.33781	D|D	0.624235|0.624235	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.11012|0.11012	-1.0605|-1.0605	8|10	0.54805|0.21540	T|T	0.06|0.41	-12.7186|-12.7186	4.1069|4.1069	0.10040|0.10040	0.4551:0.0:0.3783:0.1666|0.4551:0.0:0.3783:0.1666	.|.	.|808	.|Q4G0U5	.|PCDP1_HUMAN	E|R	367|522;808	ENSP00000413299:K367E|ENSP00000393222:K808R	ENSP00000413299:K367E|ENSP00000295220:K522R	K|K	+|+	1|2	0|0	AC069154.2|AC069154.2	120130416|120130416	0.320000|0.320000	0.24616|0.24616	0.159000|0.159000	0.22649|0.22649	0.079000|0.079000	0.17450|0.17450	-0.088000|-0.088000	0.11198|0.11198	-0.166000|-0.166000	0.10890|0.10890	0.460000|0.460000	0.39030|0.39030	AAG|AAA		0.498	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			30	47	0	0	0	0	30	47				
ARHGEF4	50649	broad.mit.edu	37	2	131797883	131797883	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:131797883A>T	ENST00000326016.5	+	8	1493	c.974A>T	c.(973-975)cAg>cTg	p.Q325L	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q325L|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q254L|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.Q325L	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	325	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCGAGGAGCAGCTGCGTACC	0.667																																						uc002tsa.1		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(973-975)CAG>CTG		Rho guanine nucleotide exchange factor 4 isoform							39.0	38.0	38.0					2																	131797883		2202	4300	6502	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797883A>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.974A>T	2.37:g.131797883A>T	ENSP00000316845:p.Gln325Leu					ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q325L|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	p.Q325L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	8	1494	+		Prostate(154;0.055)	325			DH.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.974A>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159207	0.78226	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000355771	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.05	5.05	0.67936	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	M	0.73753	2.245	0.80722	D	1	B;B	0.33964	0.214;0.434	B;B	0.42245	0.175;0.381	T	0.69785	-0.5051	10	0.48119	T	0.1	.	12.7391	0.57241	1.0:0.0:0.0:0.0	.	325;325	Q9NR80-4;Q9NR80	.;ARHG4_HUMAN	L	325;325;325;254	ENSP00000316845:Q325L;ENSP00000376680:Q325L;ENSP00000432267:Q325L;ENSP00000348017:Q254L	ENSP00000316845:Q325L	Q	+	2	0	ARHGEF4	131514353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.530000	0.90606	1.898000	0.54952	0.402000	0.26972	CAG		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			14	24	0	0	0	0	14	24				
RAB3GAP1	22930	broad.mit.edu	37	2	135878405	135878405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:135878405C>T	ENST00000264158.8	+	8	708	c.665C>T	c.(664-666)cCa>cTa	p.P222L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P178L|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P222L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	222					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCTTTAACTCCATTGCCTCCA	0.378																																						uc002tuj.2		NA																	0				ovary(1)|skin(1)	2						c.(664-666)CCA>CTA		RAB3 GTPase-activating protein							301.0	275.0	284.0					2																	135878405		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135878405C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.665C>T	2.37:g.135878405C>T	ENSP00000264158:p.Pro222Leu					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.P222L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.P47L|RAB3GAP1_uc010fnh.1_RNA	p.P222L	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	8	690	+			222					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.665C>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256363	0.80246	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	D;D;D	0.89939	-2.59;-2.59;-2.59	5.45	5.45	0.79879	.	0.048100	0.85682	D	0.000000	D	0.88934	0.6572	L	0.56769	1.78	0.80722	D	1	P;D	0.55605	0.926;0.972	B;P	0.45310	0.36;0.476	D	0.87327	0.2322	10	0.30078	T	0.28	-12.3185	19.6482	0.95790	0.0:1.0:0.0:0.0	.	222;222	C9J837;Q15042	.;RB3GP_HUMAN	L	222;178;222	ENSP00000264158:P222L;ENSP00000444306:P178L;ENSP00000411418:P222L	ENSP00000264158:P222L	P	+	2	0	RAB3GAP1	135594875	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.843000	0.69424	2.696000	0.92011	0.655000	0.94253	CCA		0.378	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		93	138	0	0	0	0	93	138				
LRP1B	53353	broad.mit.edu	37	2	141460022	141460022	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:141460022G>A	ENST00000389484.3	-	38	7095	c.6124C>T	c.(6124-6126)Ccg>Tcg	p.P2042S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					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)		ATGCCATTCGGCCATGCTATT	0.433										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.(6124-6126)CCG>TCG		low density lipoprotein-related protein 1B							112.0	104.0	107.0					2																	141460022		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141460022G>A	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.6124C>T	2.37:g.141460022G>A	ENSP00000374135:p.Pro2042Ser	TSP Lung(27;0.18)					p.P2042S	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)	38	7096	-		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)	2042			Extracellular (Potential).|LDL-receptor class B 21.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6124C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384816	0.82792	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99563	-6.17	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.99799	0.9914	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96937	0.9685	10	0.87932	D	0	.	19.0175	0.92900	0.0:0.0:1.0:0.0	.	2042	Q9NZR2	LRP1B_HUMAN	S	2042;1980	ENSP00000374135:P2042S	ENSP00000374135:P2042S	P	-	1	0	LRP1B	141176492	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	9.727000	0.98787	2.554000	0.86153	0.557000	0.71058	CCG		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		49	111	0	0	0	0	49	111				
ZEB2	9839	broad.mit.edu	37	2	145147422	145147422	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:145147422A>G	ENST00000558170.2	-	10	4425	c.3241T>C	c.(3241-3243)Tgc>Cgc	p.C1081R	ZEB2_ENST00000303660.4_Missense_Mutation_p.C1081R|ZEB2_ENST00000539609.3_Missense_Mutation_p.C1057R|ZEB2_ENST00000409487.3_Missense_Mutation_p.C1081R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1081					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGCTTGCAGTAGGAATAC	0.602																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3241-3243)TGC>CGC		zinc finger homeobox 1b							52.0	52.0	52.0					2																	145147422		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147422A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3241T>C	2.37:g.145147422A>G	ENSP00000454157:p.Cys1081Arg					ZEB2_uc002tvv.2_Missense_Mutation_p.C1075R|ZEB2_uc010zbm.1_Missense_Mutation_p.C1052R|ZEB2_uc010fnp.2_Intron	p.C1081R	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3721	-			1081					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3241T>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635766	0.87760	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.17854	2.25;2.25;2.25	5.51	5.51	0.81932	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.91635	0.999;0.986;0.986	T	0.36335	-0.9752	10	0.87932	D	0	-9.1334	15.9314	0.79663	1.0:0.0:0.0:0.0	.	1057;1080;1081	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	R	1057;1081;1081	ENSP00000443792:C1057R;ENSP00000302501:C1081R;ENSP00000386854:C1081R	ENSP00000302501:C1081R	C	-	1	0	ZEB2	144863892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.217000	0.71921	0.482000	0.46254	TGC		0.602	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		47	73	0	0	0	0	47	73				
MBD5	55777	broad.mit.edu	37	2	149240960	149240960	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:149240960C>G	ENST00000407073.1	+	10	3797	c.2800C>G	c.(2800-2802)Cta>Gta	p.L934V	MBD5_ENST00000404807.1_Missense_Mutation_p.L934V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	934					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGCATCTCCTAAACCAGAA	0.468																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(2800-2802)CTA>GTA		methyl-CpG binding domain protein 5							157.0	160.0	159.0					2																	149240960		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149240960C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2800C>G	2.37:g.149240960C>G	ENSP00000386049:p.Leu934Val					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.L934V|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	p.L934V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	10	3788	+			934					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2800C>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842787	0.51057	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.59772	0.24;0.63	5.79	4.91	0.64330	.	0.000000	0.47093	D	0.000248	T	0.64327	0.2588	L	0.27053	0.805	0.43512	D	0.995777	D	0.67145	0.996	D	0.72625	0.978	T	0.66913	-0.5803	10	0.51188	T	0.08	-6.4425	15.0809	0.72113	0.0:0.9315:0.0:0.0685	.	934	Q9P267	MBD5_HUMAN	V	934	ENSP00000386049:L934V;ENSP00000384672:L934V	ENSP00000384672:L934V	L	+	1	2	MBD5	148957430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.729000	0.38115	1.445000	0.47624	0.563000	0.77884	CTA		0.468	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			116	219	0	0	0	0	116	219				
TBR1	10716	broad.mit.edu	37	2	162273105	162273105	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:162273105C>G	ENST00000389554.3	+	1	501	c.184C>G	c.(184-186)Cag>Gag	p.Q62E	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493																																						uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(184-186)CAG>GAG		T-box, brain, 1							75.0	82.0	79.0					2																	162273105		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273105C>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.184C>G	2.37:g.162273105C>G	ENSP00000374205:p.Gln62Glu					TBR1_uc010foy.2_5'Flank	p.Q62E	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	486	+			62					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.184C>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	1.323	-0.599052	0.03744	.	.	ENSG00000136535	ENST00000389554	D	0.85861	-2.04	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	D	0.84124	0.5403	N	0.24115	0.695	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.77778	-0.2460	10	0.02654	T	1	.	17.349	0.87317	0.0:1.0:0.0:0.0	.	62	Q16650	TBR1_HUMAN	E	62	ENSP00000374205:Q62E	ENSP00000374205:Q62E	Q	+	1	0	TBR1	161981351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.688000	0.91661	0.655000	0.94253	CAG		0.493	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		66	91	0	0	0	0	66	91				
LRP2	4036	broad.mit.edu	37	2	170062967	170062967	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:170062967G>A	ENST00000263816.3	-	39	7548	c.7263C>T	c.(7261-7263)gtC>gtT	p.V2421V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2421					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)"""	CTAGAGACATGACAGTTCTTT	0.413																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7261-7263)GTC>GTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						91.0	93.0	92.0					2																	170062967		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:170062967G>A		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.7263C>T	2.37:g.170062967G>A							p.V2421V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7476	-			2421			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7263C>T	CCDS2232.1																																																																																				0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		71	96	0	0	0	0	71	96				
HOXD8	3234	broad.mit.edu	37	2	176995440	176995440	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:176995440C>A	ENST00000313173.4	+	1	973	c.346C>A	c.(346-348)Ccg>Acg	p.P116T	HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.P116T|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.P116T|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	116	Poly-Pro.				anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		tccgcatcctccgcctccgcc	0.692																																						uc002uko.2		NA																	0					0						c.(346-348)CCG>ACG		homeobox D8							39.0	49.0	46.0					2																	176995440		2039	4043	6082	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995440C>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.346C>A	2.37:g.176995440C>A	ENSP00000315949:p.Pro116Thr					uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P116T	p.P116T	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	964	+			116			Poly-Pro.		F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.346C>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014344	0.19277	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	T;T;T	0.42131	0.98;0.98;0.98	2.26	2.26	0.28386	.	0.170068	0.28166	N	0.016350	T	0.19087	0.0458	N	0.08118	0	0.26615	N	0.972769	B;B	0.22080	0.064;0.064	B;B	0.15052	0.012;0.012	T	0.17048	-1.0382	10	0.15499	T	0.54	.	9.6952	0.40154	0.0:1.0:0.0:0.0	.	116;116	Q8IXZ1;P13378	.;HXD8_HUMAN	T	116	ENSP00000315949:P116T;ENSP00000437431:P116T;ENSP00000409026:P116T	ENSP00000315949:P116T	P	+	1	0	HOXD8	176703686	0.717000	0.27966	1.000000	0.80357	0.952000	0.60782	-0.229000	0.09098	1.268000	0.44264	0.447000	0.29281	CCG		0.692	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			77	90	1	0	2.36e-25	3.19e-25	77	90				
TTN	7273	broad.mit.edu	37	2	179427269	179427269	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179427269G>A	ENST00000591111.1	-	276	78891	c.78667C>T	c.(78667-78669)Ccc>Tcc	p.P26223S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18924S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25296S|TTN_ENST00000589042.1_Missense_Mutation_p.P27864S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26223					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)			GGTGGGAGGGGTGGTTCAGAC	0.448																																						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.(75886-75888)CCC>TCC		titin isoform N2-A							80.0	76.0	77.0					2																	179427269		1865	4101	5966	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427269G>A	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.78667C>T	2.37:g.179427269G>A	ENSP00000465570:p.Pro26223Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18991S|TTN_uc010zfi.1_Missense_Mutation_p.P18924S|TTN_uc010zfj.1_Missense_Mutation_p.P18799S	p.P25296S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	76110	-			26223					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.75886C>T		.	.	.	.	.	.	.	.	.	.	G	14.44	2.537363	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.67	5.67	0.87782	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86293	0.5898	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	D	0.89842	0.4003	9	0.87932	D	0	.	19.7469	0.96255	0.0:0.0:1.0:0.0	.	18799;18924;18991;26223	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	25296;18799;18991;18924;18797	ENSP00000343764:P25296S;ENSP00000434586:P18799S;ENSP00000340554:P18991S;ENSP00000352154:P18924S	ENSP00000340554:P18991S	P	-	1	0	TTN	179135515	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.807000	0.99171	2.673000	0.90976	0.561000	0.74099	CCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	76	0	0	0	0	52	76				
TTN	7273	broad.mit.edu	37	2	179470333	179470333	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179470333A>G	ENST00000591111.1	-	229	48990	c.48766T>C	c.(48766-48768)Tat>Cat	p.Y16256H	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y8957H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y9024H|TTN_ENST00000460472.2_Missense_Mutation_p.Y8832H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y15329H|TTN_ENST00000589042.1_Missense_Mutation_p.Y17897H|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16256	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCAATGATATATCCTTGGATG	0.443																																						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.(45985-45987)TAT>CAT		titin isoform N2-A							136.0	132.0	133.0					2																	179470333		1938	4124	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179470333A>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.48766T>C	2.37:g.179470333A>G	ENSP00000465570:p.Tyr16256His					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y9024H|TTN_uc010zfi.1_Missense_Mutation_p.Y8957H|TTN_uc010zfj.1_Missense_Mutation_p.Y8832H	p.Y15329H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		228	46209	-			16256					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.45985T>C		.	.	.	.	.	.	.	.	.	.	A	14.27	2.484256	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93792	0.8015	H	0.98178	4.165	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95970	0.8969	9	0.87932	D	0	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	8832;8957;9024;16256	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15329;8832;9024;8957;8832	ENSP00000343764:Y15329H;ENSP00000434586:Y8832H;ENSP00000340554:Y9024H;ENSP00000352154:Y8957H	ENSP00000340554:Y9024H	Y	-	1	0	TTN	179178578	1.000000	0.71417	0.969000	0.41365	0.980000	0.70556	9.281000	0.95811	2.244000	0.73946	0.533000	0.62120	TAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	133	0	0	0	0	76	133				
TTN	7273	broad.mit.edu	37	2	179583155	179583155	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179583155G>T	ENST00000591111.1	-	83	23951	c.23727C>A	c.(23725-23727)acC>acA	p.T7909T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T6982T|TTN_ENST00000589042.1_Silent_p.T8226T			Q8WZ42	TITIN_HUMAN	titin	12100	Ig-like 61.				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)			TTTCCAGTATGGTAGATTTTT	0.418																																						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.(20944-20946)ACC>ACA		titin isoform N2-A							135.0	129.0	131.0					2																	179583155		1887	4109	5996	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583155G>T	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.23727C>A	2.37:g.179583155G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T3643T	p.T6982T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	21170	-			7909					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	Silent	SNP	ENST00000591111.1	37	c.20946C>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	62	1	0	2.13e-23	2.84e-23	49	62				
C2orf88	84281	broad.mit.edu	37	2	191064816	191064816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:191064816G>A	ENST00000340623.4	+	2	641	c.230G>A	c.(229-231)tGg>tAg	p.W77*	C2orf88_ENST00000396974.2_Nonsense_Mutation_p.W77*|C2orf88_ENST00000409870.1_Nonsense_Mutation_p.W77*|C2orf88_ENST00000443551.2_Nonsense_Mutation_p.W77*	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	77						plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TTGCAGCAATGGGCATGCAAT	0.473																																						uc002urq.2		NA																	0					0						c.(229-231)TGG>TAG		hypothetical protein LOC84281							186.0	182.0	183.0					2																	191064816		2027	4192	6219	SO:0001587	stop_gained	84281							g.chr2:191064816G>A	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.230G>A	2.37:g.191064816G>A	ENSP00000345107:p.Trp77*					C2orf88_uc002urr.2_Nonsense_Mutation_p.W77*|C2orf88_uc002urs.2_Nonsense_Mutation_p.W77*|C2orf88_uc002urt.2_Nonsense_Mutation_p.W77*	p.W77*	NM_001042521	NP_001035986	Q9BSF0	CB088_HUMAN			3	609	+			77					D3DPI3|P0C876|Q53TC7	Nonsense_Mutation	SNP	ENST00000340623.4	37	c.230G>A	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	G	41	8.837529	0.98972	.	.	ENSG00000187699	ENST00000396974;ENST00000409870;ENST00000340623;ENST00000443551	.	.	.	5.45	5.45	0.79879	.	0.000000	0.53938	U	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.218	16.8413	0.85970	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	.	W	+	2	0	C2orf88	190773061	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	6.341000	0.72977	2.835000	0.97688	0.650000	0.86243	TGG		0.473	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		130	204	0	0	0	0	130	204				
DNAH7	56171	broad.mit.edu	37	2	196659124	196659124	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:196659124T>A	ENST00000312428.6	-	57	10754	c.10654A>T	c.(10654-10656)Att>Ttt	p.I3552F	DNAH7_ENST00000409063.1_Missense_Mutation_p.I35F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3552	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATGATCGAATGATATTAGCC	0.453																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10654-10656)ATT>TTT		dynein, axonemal, heavy chain 7							180.0	174.0	176.0					2																	196659124		1906	4123	6029	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196659124T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10654A>T	2.37:g.196659124T>A	ENSP00000311273:p.Ile3552Phe					DNAH7_uc002uti.3_Missense_Mutation_p.I35F	p.I3552F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			57	10755	-			3552			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10654A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280654	0.23392	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08546	3.08;3.08	4.86	2.53	0.30540	Dynein heavy chain (1);	0.311481	0.33419	N	0.004923	T	0.11965	0.0291	L	0.43598	1.365	0.80722	D	1	P	0.42620	0.785	P	0.52267	0.694	T	0.19811	-1.0294	10	0.15952	T	0.53	.	9.5897	0.39539	0.0:0.1543:0.0:0.8457	.	3552	Q8WXX0	DYH7_HUMAN	F	3552;35	ENSP00000311273:I3552F;ENSP00000386912:I35F	ENSP00000311273:I3552F	I	-	1	0	DNAH7	196367369	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	1.300000	0.33436	0.970000	0.38263	-0.386000	0.06593	ATT		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		71	95	0	0	0	0	71	95				
MOB4	25843	broad.mit.edu	37	2	198413136	198413136	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:198413136G>T	ENST00000323303.4	+	6	686	c.431G>T	c.(430-432)aGc>aTc	p.S144I	MOB4_ENST00000409916.1_Missense_Mutation_p.S45I|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409360.1_Missense_Mutation_p.S112I|MOB4_ENST00000448447.2_Missense_Mutation_p.S123I|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.S180I|MOB4_ENST00000233892.4_Missense_Mutation_p.S112I	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	144					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										TATTTTCCCAGCAGGTAATCG	0.348																																						uc002uun.3		NA																	0					0						c.(430-432)AGC>ATC		Mps One Binder kinase activator-like 3 isoform							85.0	82.0	83.0					2																	198413136		2203	4298	6501	SO:0001583	missense	25843				transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding	g.chr2:198413136G>T	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.431G>T	2.37:g.198413136G>T	ENSP00000315702:p.Ser144Ile					MOBKL3_uc002uum.3_Missense_Mutation_p.S112I|MOBKL3_uc010fsn.2_Missense_Mutation_p.S123I|MOBKL3_uc010fso.2_Missense_Mutation_p.S45I|MOBKL3_uc010zgz.1_Missense_Mutation_p.S45I	p.S144I	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Epithelial(96;0.225)		6	471	+			144					B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.431G>T	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898666	0.91962	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90801	0.4694	9	0.87932	D	0	.	19.0965	0.93253	0.0:0.0:1.0:0.0	.	123;144	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	I	112;45;144;123;112	.	ENSP00000233892:S112I	S	+	2	0	PHOCN	198121381	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.711000	0.98735	2.577000	0.86979	0.557000	0.71058	AGC		0.348	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		49	78	1	0	2.82e-22	3.7e-22	49	78				
ERBB4	2066	broad.mit.edu	37	2	212288906	212288906	+	Missense_Mutation	SNP	A	A	G	rs370965857		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:212288906A>G	ENST00000342788.4	-	23	3150	c.2840T>C	c.(2839-2841)aTt>aCt	p.I947T	ERBB4_ENST00000402597.1_Missense_Mutation_p.I937T|ERBB4_ENST00000436443.1_Missense_Mutation_p.I947T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	947	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTAAACGTCAATAGTGCAGAT	0.388										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2839-2841)ATT>ACT		v-erb-a erythroblastic leukemia viral oncogene		A	THR/ILE,THR/ILE	0,4406		0,0,2203	117.0	115.0	115.0		2840,2840	6.2	1.0	2		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ERBB4	NM_001042599.1,NM_005235.2	89,89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	947/1293,947/1309	212288906	1,13005	2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212288906A>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2840T>C	2.37:g.212288906A>G	ENSP00000342235:p.Ile947Thr	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.I947T|ERBB4_uc010zji.1_Missense_Mutation_p.I937T|ERBB4_uc010zjj.1_Missense_Mutation_p.I937T	p.I947T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	23	2938	-		Renal(323;0.06)|Lung NSC(271;0.197)	947	I->R: Constitutively autophosphorylated.		Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2840T>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518901	0.85495	0.0	1.16E-4	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.81908	-1.55;-1.55;-1.55	6.16	6.16	0.99307	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.76494	0.991;0.857;0.999;0.999	D;P;D;D	0.87578	0.984;0.896;0.997;0.998	D	0.87625	0.2512	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	937;937;947;947	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	T	947;947;937	ENSP00000342235:I947T;ENSP00000403204:I947T;ENSP00000385565:I937T	ENSP00000342235:I947T	I	-	2	0	ERBB4	211997151	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.268000	0.95675	2.367000	0.80283	0.528000	0.53228	ATT		0.388	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		70	105	0	0	0	0	70	105				
CTDSP1	58190	broad.mit.edu	37	2	219267845	219267845	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:219267845G>A	ENST00000273062.2	+	5	802	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	CTDSP1_ENST00000443891.1_Missense_Mutation_p.A155T|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	156	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGCCTCGCCAAGGTGAG	0.642																																						uc002vhy.2		NA																	0				ovary(1)	1						c.(466-468)GCC>ACC		CTD (carboxy-terminal domain, RNA polymerase II,							72.0	73.0	72.0					2																	219267845		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219267845G>A	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.466G>A	2.37:g.219267845G>A	ENSP00000273062:p.Ala156Thr					CTDSP1_uc002vhx.2_Missense_Mutation_p.A155T|CTDSP1_uc002vhz.2_Missense_Mutation_p.A15T	p.A156T	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	802	+		Renal(207;0.0915)	156			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.466G>A	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506940	0.85282	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.16897	2.31;2.31	4.91	4.03	0.46877	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.055493	0.64402	D	0.000001	T	0.43787	0.1263	M	0.86420	2.815	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61940	0.863;0.896	T	0.53472	-0.8434	10	0.66056	D	0.02	-19.2367	14.1087	0.65109	0.0:0.1522:0.8477:0.0	.	156;155	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	T	155;156	ENSP00000392248:A155T;ENSP00000273062:A156T	ENSP00000273062:A156T	A	+	1	0	CTDSP1	218976089	1.000000	0.71417	0.847000	0.33407	0.771000	0.43674	6.701000	0.74624	1.045000	0.40225	0.491000	0.48974	GCC		0.642	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		51	73	0	0	0	0	51	73				
WDFY1	57590	broad.mit.edu	37	2	224765920	224765920	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:224765920C>T	ENST00000233055.4	-	5	567	c.465G>A	c.(463-465)acG>acA	p.T155T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	155						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AAGCCCAGGACGTGAAGAAGT	0.577																																						uc002vnq.2		NA																	0				lung(1)	1						c.(463-465)ACG>ACA		WD repeat and FYVE domain containing 1							121.0	104.0	110.0					2																	224765920		2203	4300	6503	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224765920C>T	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.465G>A	2.37:g.224765920C>T							p.T155T	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	5	516	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	155			WD 4.		Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.465G>A	CCDS33387.1																																																																																				0.577	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		50	75	0	0	0	0	50	75				
DOCK10	55619	broad.mit.edu	37	2	225659685	225659685	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:225659685C>T	ENST00000258390.7	-	45	5132	c.5065G>A	c.(5065-5067)Gca>Aca	p.A1689T	DOCK10_ENST00000409592.3_Missense_Mutation_p.A1683T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1689					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TAGGAGTTTGCCAGGCTGTAC	0.517																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(5065-5067)GCA>ACA		dedicator of cytokinesis 10							148.0	154.0	152.0					2																	225659685		2076	4223	6299	SO:0001583	missense	55619						GTP binding	g.chr2:225659685C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5065G>A	2.37:g.225659685C>T	ENSP00000258390:p.Ala1689Thr					DOCK10_uc002vob.2_Missense_Mutation_p.A1683T|DOCK10_uc002voa.2_Missense_Mutation_p.A345T|DOCK10_uc002voc.2_Missense_Mutation_p.A543T	p.A1689T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	45	5304	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1689			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5065G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626485	0.96671	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.01705	4.68;4.68	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	H	0.94264	3.515	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;0.997;1.0;1.0	D;D;D;D	0.97110	0.976;0.989;0.998;1.0	T	0.04307	-1.0961	10	0.87932	D	0	.	19.7791	0.96410	0.0:1.0:0.0:0.0	.	1689;543;1683;351	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	T	1683;1689;227	ENSP00000386694:A1683T;ENSP00000258390:A1689T	ENSP00000258390:A1689T	A	-	1	0	DOCK10	225367929	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.487000	0.81328	2.683000	0.91414	0.557000	0.71058	GCA		0.517	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			5	275	0	0	0	0	5	275				
COL4A4	1286	broad.mit.edu	37	2	227985813	227985813	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:227985813G>A	ENST00000396625.3	-	5	451	c.244C>T	c.(244-246)Cca>Tca	p.P82S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P82S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	82	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGGGTCCTGGGGCTCCCAGG	0.542																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(244-246)CCA>TCA		alpha 4 type IV collagen precursor							52.0	52.0	52.0					2																	227985813		1828	4072	5900	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227985813G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.244C>T	2.37:g.227985813G>A	ENSP00000379866:p.Pro82Ser						p.P82S	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	5	898	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	82			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.244C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	7.219	0.596936	0.13875	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95518	-3.73;-3.73	4.97	4.08	0.47627	.	.	.	.	.	D	0.92672	0.7671	M	0.75447	2.3	0.09310	N	1	B	0.17268	0.021	B	0.24848	0.056	T	0.79931	-0.1595	9	0.17832	T	0.49	.	1.7451	0.02961	0.1697:0.1566:0.4864:0.1873	.	82	P53420	CO4A4_HUMAN	S	82	ENSP00000379866:P82S;ENSP00000328553:P82S	ENSP00000328553:P82S	P	-	1	0	COL4A4	227694057	0.987000	0.35691	0.088000	0.20740	0.841000	0.47740	2.048000	0.41278	2.301000	0.77427	0.455000	0.32223	CCA		0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		59	72	0	0	0	0	59	72				
DIS3L2	129563	broad.mit.edu	37	2	233198642	233198642	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233198642G>A	ENST00000409307.1	+	16	2103	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Silent_p.S701S					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCACCTCGCCCATCCGCC	0.667																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2101-2103)TCG>TCA		DIS3 mitotic control homolog (S.							52.0	59.0	57.0					2																	233198642		2166	4262	6428	SO:0001819	synonymous_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233198642G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2103G>A	2.37:g.233198642G>A						DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	p.S701S	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	17	2379	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	701						Silent	SNP	ENST00000409307.1	37	c.2103G>A	CCDS42834.1																																																																																				0.667	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		58	97	0	0	0	0	58	97				
CHRND	1144	broad.mit.edu	37	2	233394727	233394727	+	Missense_Mutation	SNP	G	G	T	rs146416320		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233394727G>T	ENST00000258385.3	+	7	730	c.698G>T	c.(697-699)cGc>cTc	p.R233L	CHRND_ENST00000543200.1_Missense_Mutation_p.R218L|CHRND_ENST00000536614.1_Silent_p.P196P|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	233					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.R233H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AGCCCCAGCCGCCAGGACATC	0.617																																						uc002vsw.2		NA																	1	Substitution - Missense(1)		liver(1)	ovary(1)|breast(1)|skin(1)	3						c.(697-699)CGC>CTC		nicotinic acetylcholine receptor delta							142.0	120.0	127.0					2																	233394727		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394727G>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.698G>T	2.37:g.233394727G>T	ENSP00000258385:p.Arg233Leu					CHRND_uc010zmg.1_Missense_Mutation_p.R218L|CHRND_uc010fyc.2_Missense_Mutation_p.R106L|CHRND_uc010zmh.1_Intron	p.R233L	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	702	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	233			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.698G>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.214447	0.39102	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.76709	-1.04;-1.04	5.18	-5.07	0.02938	Neurotransmitter-gated ion-channel ligand-binding (3);	0.539517	0.20921	N	0.083273	T	0.66809	0.2827	L	0.32530	0.975	0.80722	D	1	B;B;B	0.25390	0.125;0.125;0.125	B;B;B	0.29176	0.099;0.091;0.091	T	0.52335	-0.8589	10	0.72032	D	0.01	.	17.0472	0.86507	0.8881:0.0:0.1119:0.0	.	218;233;233	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	L	218;233	ENSP00000438380:R218L;ENSP00000258385:R233L	ENSP00000258385:R233L	R	+	2	0	CHRND	233102971	0.117000	0.22190	0.418000	0.26571	0.976000	0.68499	0.918000	0.28678	-0.819000	0.04323	0.655000	0.94253	CGC		0.617	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			56	103	1	0	4.33e-36	6.22e-36	56	103				
NGEF	25791	broad.mit.edu	37	2	233839522	233839522	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233839522G>T	ENST00000264051.3	-	2	357	c.79C>A	c.(79-81)Cca>Aca	p.P27T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	27	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACCTTGGCTGGTTCATTATCA	0.443																																						uc002vts.2		NA																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(79-81)CCA>ACA		neuronal guanine nucleotide exchange factor							214.0	193.0	200.0					2																	233839522		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233839522G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.79C>A	2.37:g.233839522G>T	ENSP00000264051:p.Pro27Thr						p.P27T	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	2	327	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	27			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.79C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358516	0.24598	.	.	ENSG00000066248	ENST00000264051	T	0.71817	-0.6	5.05	-4.53	0.03462	.	1.923720	0.02942	N	0.140652	T	0.49729	0.1574	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.28808	-1.0032	10	0.56958	D	0.05	1.3532	0.7775	0.01034	0.3928:0.1216:0.2379:0.2477	.	27	Q8N5V2	NGEF_HUMAN	T	27	ENSP00000264051:P27T	ENSP00000264051:P27T	P	-	1	0	NGEF	233547766	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.169000	0.16641	-0.681000	0.05204	-0.150000	0.13652	CCA		0.443	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		81	125	1	0	1.52e-23	2.03e-23	81	125				
TRPM8	79054	broad.mit.edu	37	2	234904971	234904971	+	Splice_Site	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:234904971T>G	ENST00000324695.4	+	22	2981	c.2941T>G	c.(2941-2943)Tac>Gac	p.Y981D	TRPM8_ENST00000433712.2_Splice_Site_p.Y559D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	981					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCACCAGCTACACGGTGGG	0.512																																						uc002vvh.2		NA																	0				skin(4)	4						c.(2941-2943)TAC>GAC		transient receptor potential cation channel,	Menthol(DB00825)						95.0	94.0	94.0					2																	234904971		2203	4300	6503	SO:0001630	splice_region_variant	79054					integral to membrane		g.chr2:234904971T>G	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2940-1T>G	2.37:g.234904971T>G						TRPM8_uc010fyj.2_Missense_Mutation_p.Y559D|TRPM8_uc010fyk.2_RNA	p.Y981D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	22	2981	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	981			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2941T>G	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995123	0.74703	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.41400	1.0;1.0;1.0	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000007	T	0.60457	0.2270	M	0.76170	2.325	0.31388	N	0.678239	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	T	0.61128	-0.7125	10	0.08599	T	0.76	-31.8675	14.9253	0.70871	0.0:0.0:0.0:1.0	.	559;981	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	D	981;559;242	ENSP00000323926:Y981D;ENSP00000404423:Y559D;ENSP00000414198:Y242D	ENSP00000323926:Y981D	Y	+	1	0	TRPM8	234569710	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.286000	0.72665	2.254000	0.74563	0.533000	0.62120	TAC		0.512	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	Missense_Mutation	45	74	0	0	0	0	45	74				
COL6A3	1293	broad.mit.edu	37	2	238275541	238275541	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:238275541G>T	ENST00000295550.4	-	11	5741	c.5289C>A	c.(5287-5289)agC>agA	p.S1763R	COL6A3_ENST00000353578.4_Missense_Mutation_p.S1557R|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1562R|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1156R|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1557R|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1563R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1763	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGCCAGGCTCACATCCT	0.582																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5287-5289)AGC>AGA		alpha 3 type VI collagen isoform 1 precursor							81.0	82.0	82.0					2																	238275541		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275541G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5289C>A	2.37:g.238275541G>T	ENSP00000295550:p.Ser1763Arg					COL6A3_uc002vwo.2_Missense_Mutation_p.S1557R|COL6A3_uc010znj.1_Missense_Mutation_p.S1156R	p.S1763R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5574	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1763			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5289C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323918	0.41096	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.66	3.77	0.43336	von Willebrand factor, type A (3);	0.219691	0.31484	N	0.007567	D	0.85898	0.5804	M	0.76938	2.355	0.40225	D	0.977788	D;D;D	0.76494	0.999;0.995;0.966	D;D;P	0.71184	0.972;0.948;0.711	D	0.87176	0.2224	10	0.87932	D	0	.	11.0842	0.48078	0.07:0.1296:0.8004:0.0	.	1156;1557;1763	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	1763;1562;1557;1156;1557;1563	ENSP00000295550:S1763R;ENSP00000315609:S1562R;ENSP00000315873:S1557R;ENSP00000418285:S1156R;ENSP00000386844:S1557R;ENSP00000295546:S1563R	ENSP00000295550:S1763R	S	-	3	2	COL6A3	237940280	0.043000	0.20138	0.999000	0.59377	0.835000	0.47333	0.105000	0.15333	2.662000	0.90505	0.650000	0.86243	AGC		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		48	56	1	0	2.43e-25	3.28e-25	48	56				
COL6A3	1293	broad.mit.edu	37	2	238283363	238283363	+	Missense_Mutation	SNP	G	G	C	rs374447921		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:238283363G>C	ENST00000295550.4	-	8	3823	c.3371C>G	c.(3370-3372)gCg>gGg	p.A1124G	COL6A3_ENST00000353578.4_Missense_Mutation_p.A918G|COL6A3_ENST00000392004.3_Missense_Mutation_p.A918G|COL6A3_ENST00000392003.2_Missense_Mutation_p.A717G|COL6A3_ENST00000347401.3_Missense_Mutation_p.A923G|COL6A3_ENST00000472056.1_Missense_Mutation_p.A517G|COL6A3_ENST00000409809.1_Missense_Mutation_p.A918G|COL6A3_ENST00000346358.4_Missense_Mutation_p.A924G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1124	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTGCTTCCCGCAGAGCTGAC	0.647																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3370-3372)GCG>GGG		alpha 3 type VI collagen isoform 1 precursor							51.0	53.0	52.0					2																	238283363		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283363G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3371C>G	2.37:g.238283363G>C	ENSP00000295550:p.Ala1124Gly					COL6A3_uc002vwo.2_Missense_Mutation_p.A918G|COL6A3_uc010znj.1_Missense_Mutation_p.A517G|COL6A3_uc002vwq.2_Missense_Mutation_p.A918G|COL6A3_uc002vwr.2_Missense_Mutation_p.A717G	p.A1124G	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3656	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1124			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3371C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968959	0.74131	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.33	4.35	0.52113	von Willebrand factor, type A (3);	0.542267	0.16616	N	0.206720	T	0.63474	0.2514	L	0.51914	1.62	0.25061	N	0.991065	D;P;P;D;P	0.61080	0.989;0.703;0.835;0.988;0.868	D;P;P;P;B	0.66497	0.944;0.565;0.732;0.908;0.422	T	0.54430	-0.8295	10	0.54805	T	0.06	.	10.5495	0.45079	0.0805:0.1386:0.7809:0.0	.	517;717;918;918;1124	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	G	1124;923;918;517;918;924;918;717	ENSP00000295550:A1124G;ENSP00000315609:A923G;ENSP00000315873:A918G;ENSP00000418285:A517G;ENSP00000386844:A918G;ENSP00000295546:A924G;ENSP00000375861:A918G;ENSP00000375860:A717G	ENSP00000295550:A1124G	A	-	2	0	COL6A3	237948102	0.003000	0.15002	0.023000	0.16930	0.955000	0.61496	1.015000	0.29963	1.220000	0.43490	0.655000	0.94253	GCG		0.647	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		45	68	0	0	0	0	45	68				
CAPN10	11132	broad.mit.edu	37	2	241533429	241533429	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:241533429G>T	ENST00000391984.2	+	5	991	c.795G>T	c.(793-795)tgG>tgT	p.W265C	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.W265C|CAPN10_ENST00000391982.2_Missense_Mutation_p.W265C|CAPN10_ENST00000354082.4_Missense_Mutation_p.W265C|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	265	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAACCCCTGGGGCCGGCGGT	0.692																																						uc002vzk.1		NA																	0				ovary(3)|large_intestine(2)|lung(1)	6						c.(793-795)TGG>TGT		calpain 10 isoform a							42.0	51.0	48.0					2																	241533429		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241533429G>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.795G>T	2.37:g.241533429G>T	ENSP00000375844:p.Trp265Cys					CAPN10_uc010zoh.1_Missense_Mutation_p.W265C|CAPN10_uc002vzl.1_Missense_Mutation_p.W265C|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.W137C|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.W265C	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	5	979	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	265			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.795G>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635099	0.47049	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	4.52	4.52	0.55395	Peptidase C2, calpain, catalytic domain (3);	0.069402	0.64402	D	0.000007	T	0.72906	0.3519	H	0.97707	4.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83734	0.0200	10	0.87932	D	0	.	14.7371	0.69424	0.0:0.0:1.0:0.0	.	265;265;265;265	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	C	265	ENSP00000375844:W265C;ENSP00000375842:W265C;ENSP00000384422:W265C;ENSP00000270362:W265C	ENSP00000270362:W265C	W	+	3	0	CAPN10	241182102	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.791000	0.75120	2.068000	0.61886	0.655000	0.94253	TGG		0.692	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		86	106	1	0	1.43e-44	2.11e-44	86	106				
ANGPT4	51378	broad.mit.edu	37	20	870932	870932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:870932G>C	ENST00000381922.3	-	2	491	c.389C>G	c.(388-390)cCc>cGc	p.P130R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P130R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	130					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTCTAGCATGGGGGCCGTCTG	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NA																	0				ovary(2)	2						c.(388-390)CCC>CGC		angiopoietin 4 precursor							94.0	80.0	85.0					20																	870932		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:870932G>C	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.389C>G	20.37:g.870932G>C	ENSP00000371347:p.Pro130Arg					ANGPT4_uc010zpn.1_Missense_Mutation_p.P124R	p.P130R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			2	492	-			130			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.389C>G	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	11.35	1.613674	0.28712	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13196	2.61;2.61	4.38	3.43	0.39272	.	0.490094	0.18728	N	0.132832	T	0.08891	0.0220	N	0.22421	0.69	0.22787	N	0.998734	P;P	0.49961	0.855;0.93	B;B	0.39068	0.289;0.289	T	0.15492	-1.0435	10	0.52906	T	0.07	.	9.8892	0.41279	0.1013:0.0:0.8987:0.0	.	130;130	B4E3J9;Q9Y264	.;ANGP4_HUMAN	R	130	ENSP00000371347:P130R;ENSP00000439605:P130R	ENSP00000371347:P130R	P	-	2	0	ANGPT4	818932	1.000000	0.71417	0.994000	0.49952	0.155000	0.21991	7.213000	0.77950	1.051000	0.40369	0.450000	0.29827	CCC		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		67	125	0	0	0	0	67	125				
KIF16B	55614	broad.mit.edu	37	20	16486697	16486697	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:16486697C>A	ENST00000354981.2	-	8	995	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	KIF16B_ENST00000355755.3_Missense_Mutation_p.V280L|KIF16B_ENST00000408042.1_Missense_Mutation_p.V280L|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCCAGAGTCACGAGGGACTTG	0.512																																						uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(838-840)GTG>TTG		kinesin-like motor protein C20orf23							112.0	104.0	107.0					20																	16486697		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16486697C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.838G>T	20.37:g.16486697C>A	ENSP00000347076:p.Val280Leu					KIF16B_uc010gch.1_Missense_Mutation_p.V280L|KIF16B_uc010gci.1_Missense_Mutation_p.V280L|KIF16B_uc010gcj.1_Missense_Mutation_p.V280L	p.V280L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			8	996	-			280			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.838G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162239	0.94727	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.72394	-0.65;-0.65;-0.65	5.32	5.32	0.75619	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	N	0.03253	-0.375	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	T	0.79741	-0.1676	10	0.72032	D	0.01	.	19.358	0.94422	0.0:1.0:0.0:0.0	.	280;280;280;280	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	L	280	ENSP00000347076:V280L;ENSP00000347995:V280L;ENSP00000384164:V280L	ENSP00000347076:V280L	V	-	1	0	KIF16B	16434697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.644000	0.89710	0.563000	0.77884	GTG		0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		80	377	1	0	9.59e-39	1.39e-38	80	377				
CFAP61	26074	broad.mit.edu	37	20	20177362	20177362	+	Missense_Mutation	SNP	G	G	T	rs115927004		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:20177362G>T	ENST00000245957.5	+	16	1815	c.1739G>T	c.(1738-1740)cGt>cTt	p.R580L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		580										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAGATCCTGCGTTTAGGCTTT	0.483																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1738-1740)CGT>CTT		hypothetical protein LOC26074							122.0	111.0	115.0					20																	20177362		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177362G>T																												ENST00000245957.5:c.1739G>T	20.37:g.20177362G>T	ENSP00000245957:p.Arg580Leu					C20orf26_uc010zse.1_Missense_Mutation_p.R560L	p.R580L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1815	+			580					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1739G>T	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437335|5.437335	0.96168|0.96168	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.11821|.	2.74|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81819|0.81819	0.4903|0.4903	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81593|0.81593	-0.0862|-0.0862	10|5	0.87932|.	D|.	0|.	.|.	19.7724|19.7724	0.96370|0.96370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	560;580|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	L|F	520;148;560;580|120	ENSP00000245957:R580L|.	ENSP00000245957:R580L|.	R|V	+|+	2|1	0|0	C20orf26|C20orf26	20125362|20125362	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.920000|0.920000	0.55202|0.55202	9.562000|9.562000	0.98145|0.98145	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.483	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			120	187	1	0	5.01e-73	7.68e-73	120	187				
NKX2-4	644524	broad.mit.edu	37	20	21376612	21376612	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21376612C>T	ENST00000351817.4	-	2	1630	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	334					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						ccccggcggccgcgtccaggg	0.781																																						uc010gcz.2		NA																	0					0						c.(1000-1002)GCG>GCA		NK2 homeobox 4							8.0	9.0	8.0					20																	21376612		1037	2470	3507	SO:0001819	synonymous_variant	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376612C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.1002G>A	20.37:g.21376612C>T							p.A334A	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			2	1012	-			334					Q5VZV8	Silent	SNP	ENST00000351817.4	37	c.1002G>A	CCDS42855.1																																																																																				0.781	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			17	11	0	0	0	0	17	11				
PAX1	5075	broad.mit.edu	37	20	21687579	21687579	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21687579G>T	ENST00000398485.2	+	2	844	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	PAX1_ENST00000444366.2_Missense_Mutation_p.G240C|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	264					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTCGCCCACGGGCGCCAAGAT	0.697																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(790-792)GGC>TGC		paired box 1							23.0	28.0	26.0					20																	21687579		2202	4297	6499	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687579G>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.790G>T	20.37:g.21687579G>T	ENSP00000381499:p.Gly264Cys					PAX1_uc010zsl.1_Missense_Mutation_p.G264C|PAX1_uc010zsm.1_Missense_Mutation_p.G240C	p.G264C	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	844	+			264					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.790G>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835559	0.71373	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98455	-4.45;-4.94	5.32	5.32	0.75619	.	0.264062	0.37483	N	0.002074	D	0.98507	0.9502	M	0.68952	2.095	0.40301	D	0.97861	D;D;D	0.89917	0.999;0.985;1.0	D;P;D	0.71184	0.951;0.707;0.972	D	0.99690	1.1001	10	0.72032	D	0.01	.	13.5831	0.61915	0.0:0.0:0.8445:0.1555	.	240;170;264	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	C	264;240	ENSP00000381499:G264C;ENSP00000410355:G240C	ENSP00000381499:G264C	G	+	1	0	PAX1	21635579	0.985000	0.35326	0.875000	0.34327	0.876000	0.50452	3.549000	0.53681	2.492000	0.84095	0.561000	0.74099	GGC		0.697	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			47	43	1	0	1.65e-34	2.36e-34	47	43				
SSTR4	6754	broad.mit.edu	37	20	23016732	23016732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23016732C>A	ENST00000255008.3	+	1	676	c.612C>A	c.(610-612)caC>caA	p.H204Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	204					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGTGGCCACACCCGGCCTGGT	0.657																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(610-612)CAC>CAA		somatostatin receptor 4							40.0	48.0	45.0					20																	23016732		2150	4252	6402	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016732C>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.612C>A	20.37:g.23016732C>A	ENSP00000255008:p.His204Gln						p.H204Q	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	676	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		204			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.612C>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058748	0.36277	.	.	ENSG00000132671	ENST00000255008	T	0.36340	1.26	3.45	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.390683	0.22950	U	0.053664	T	0.16811	0.0404	N	0.11427	0.14	0.30768	N	0.743379	B	0.12630	0.006	B	0.20384	0.029	T	0.07366	-1.0776	10	0.48119	T	0.1	.	4.6731	0.12699	0.0:0.6023:0.1854:0.2123	.	204	P31391	SSR4_HUMAN	Q	204	ENSP00000255008:H204Q	ENSP00000255008:H204Q	H	+	3	2	SSTR4	22964732	0.979000	0.34478	0.980000	0.43619	0.981000	0.71138	1.015000	0.29963	0.582000	0.29556	0.655000	0.94253	CAC		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			37	107	1	0	1.01e-15	1.25e-15	37	107				
GGTLC1	92086	broad.mit.edu	37	20	23966370	23966370	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23966370C>T	ENST00000335694.4	-	5	669	c.465G>A	c.(463-465)gtG>gtA	p.V155V	GGTLC1_ENST00000278765.4_Silent_p.V155V|GGTLC1_ENST00000286890.4_Silent_p.V155V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGGGCTCCTCCACGGCCCACT	0.607																																						uc002wts.2		NA																	0				ovary(1)	1						c.(463-465)GTG>GTA		gamma-glutamyltransferase light chain 1							76.0	79.0	78.0					20																	23966370		2203	4295	6498	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23966370C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.465G>A	20.37:g.23966370C>T						GGTLC1_uc002wtu.2_Silent_p.V155V	p.V155V	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			5	598	-			155					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.465G>A	CCDS13163.1																																																																																				0.607	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		161	125	0	0	0	0	161	125				
CEP250	11190	broad.mit.edu	37	20	34092279	34092279	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:34092279G>A	ENST00000397527.1	+	30	6802	c.6082G>A	c.(6082-6084)Gac>Aac	p.D2028N	CEP250_ENST00000342580.4_Missense_Mutation_p.D1972N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2028	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGAGATCCAGGACCAGGATCT	0.607																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(6082-6084)GAC>AAC		centrosomal protein 2							31.0	32.0	32.0					20																	34092279		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092279G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6082G>A	20.37:g.34092279G>A	ENSP00000380661:p.Asp2028Asn					CEP250_uc010zve.1_Missense_Mutation_p.D1396N	p.D2028N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	6753	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2028			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6082G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358524	0.24598	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.44083	2.94;2.94;0.93	4.91	1.78	0.24846	.	0.993759	0.08171	N	0.986924	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29610	-1.0006	10	0.17832	T	0.49	.	2.309	0.04182	0.2272:0.1303:0.5086:0.1339	.	2028	Q9BV73	CP250_HUMAN	N	2028;1972;516	ENSP00000380661:D2028N;ENSP00000341541:D1972N;ENSP00000395992:D516N	ENSP00000341541:D1972N	D	+	1	0	CEP250	33555693	0.005000	0.15991	0.840000	0.33206	0.785000	0.44390	1.366000	0.34193	0.232000	0.21100	0.655000	0.94253	GAC		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		6	26	0	0	0	0	6	26				
DLGAP4	22839	broad.mit.edu	37	20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A	rs529565051		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:35060934G>A	ENST00000373907.2	+	2	1013	c.814G>A	c.(814-816)Gca>Aca	p.A272T	DLGAP4_ENST00000401952.2_Missense_Mutation_p.A272T|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A272T|DLGAP4_ENST00000373913.3_Missense_Mutation_p.A272T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	272	Poly-Pro.				cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCCCCGCCCGCACCCCCAGC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		8380	0.001		0.0	False		,,,				2504	0.0					uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(814-816)GCA>ACA		disks large-associated protein 4 isoform a																																				SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060934G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.814G>A	20.37:g.35060934G>A	ENSP00000363014:p.Ala272Thr					DLGAP4_uc010zvp.1_Missense_Mutation_p.A272T	p.A272T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	1249	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	272			Poly-Pro.		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.814G>A		.	.	.	.	.	.	.	.	.	.	G	6.975	0.549817	0.13374	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.51	4.55	0.56014	.	0.749919	0.13095	N	0.414254	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999997	B	0.19706	0.038	B	0.10450	0.005	T	0.09143	-1.0688	10	0.38643	T	0.18	.	5.0619	0.14560	0.1502:0.1976:0.6521:0.0	.	272	Q9Y2H0-1	.	T	272	ENSP00000363023:A272T;ENSP00000384954:A272T;ENSP00000363014:A272T;ENSP00000341633:A272T	ENSP00000341633:A272T	A	+	1	0	DLGAP4	34494348	0.488000	0.25996	0.230000	0.23976	0.575000	0.36095	3.711000	0.54868	2.595000	0.87683	0.561000	0.74099	GCA		0.627	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		10	19	0	0	0	0	10	19				
TGM2	7052	broad.mit.edu	37	20	36775222	36775222	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:36775222C>A	ENST00000361475.2	-	6	929	c.756G>T	c.(754-756)atG>atT	p.M252I	TGM2_ENST00000536724.1_Missense_Mutation_p.M192I|TGM2_ENST00000536701.1_Missense_Mutation_p.M171I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	252					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGATCCAGGACATGGGGCTGA	0.657																																						uc002xhr.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(754-756)ATG>ATT		transglutaminase 2 isoform a	L-Glutamine(DB00130)						64.0	49.0	54.0					20																	36775222		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36775222C>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.756G>T	20.37:g.36775222C>A	ENSP00000355330:p.Met252Ile					TGM2_uc010zvx.1_Missense_Mutation_p.M171I|TGM2_uc010zvy.1_Missense_Mutation_p.M192I|TGM2_uc002xhs.1_Missense_Mutation_p.M228I|TGM2_uc002xht.2_Missense_Mutation_p.M252I|TGM2_uc002xhu.3_Missense_Mutation_p.M252I	p.M252I	NM_004613	NP_004604	P21980	TGM2_HUMAN			6	856	-		Myeloproliferative disorder(115;0.00878)	252					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.756G>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909970	0.33721	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.56	4.56	0.56223	.	0.274628	0.50627	D	0.000114	D	0.88764	0.6525	M	0.72894	2.215	0.41564	D	0.988648	P;B;B;P;P;B	0.39131	0.661;0.272;0.293;0.661;0.53;0.215	B;B;B;B;B;B	0.42319	0.383;0.124;0.061;0.383;0.213;0.134	D	0.86881	0.2042	10	0.24483	T	0.36	-13.0099	14.9925	0.71399	0.0:0.8572:0.1428:0.0	.	192;171;252;252;192;252	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	I	252;171;192;252	ENSP00000355330:M252I;ENSP00000444701:M171I;ENSP00000437479:M192I;ENSP00000362502:M252I	ENSP00000355330:M252I	M	-	3	0	TGM2	36208636	0.176000	0.23096	0.999000	0.59377	0.163000	0.22366	0.920000	0.28705	2.607000	0.88179	0.563000	0.77884	ATG		0.657	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		75	62	1	0	1.35e-34	1.93e-34	75	62				
ACTR5	79913	broad.mit.edu	37	20	37395021	37395021	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:37395021G>A	ENST00000243903.4	+	7	1470		c.e7+1			NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)						DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TTCTGGACAGGTGAGACAGCG	0.433																																						uc002xjd.2		NA																	0					0						c.e7+1		ARP5 actin-related protein 5 homolog							106.0	107.0	107.0					20																	37395021		2203	4300	6503	SO:0001630	splice_region_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37395021G>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1433+1G>A	20.37:g.37395021G>A							p.R478_splice	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			7	1458	+		Myeloproliferative disorder(115;0.00878)						Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Splice_Site	SNP	ENST00000243903.4	37	c.1433_splice	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408197	0.83340	.	.	ENSG00000101442	ENST00000243903	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4674	0.94948	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTR5	36828435	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.173000	0.94815	2.674000	0.91012	0.563000	0.77884	.		0.433	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	Intron	362	140	0	0	0	0	362	140				
YTHDF1	54915	broad.mit.edu	37	20	61833966	61833966	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:61833966C>A	ENST00000370339.3	-	4	1667	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.G392G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	442	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AATGCCCACTCCCATTGACGC	0.607																																						uc002yeh.2		NA																	0				ovary(2)	2						c.(1324-1326)GGG>GGT		YTH domain family, member 1							70.0	71.0	71.0					20																	61833966		2203	4300	6503	SO:0001819	synonymous_variant	54915							g.chr20:61833966C>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1326G>T	20.37:g.61833966C>A						YTHDF1_uc011aaq.1_Silent_p.G392G	p.G442G	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	1620	-			442			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.1326G>T	CCDS13511.1																																																																																				0.607	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		80	36	1	0	5.37e-22	7.01e-22	80	36				
BAGE2	85319	broad.mit.edu	37	21	11058319	11058319	+	RNA	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:11058319C>T	ENST00000470054.1	-	0	328							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAAATGCACATCGCTGAAA	0.388																																						uc002yit.1		NA																	0					0						c.(121-123)GTG>ATG		B melanoma antigen family, member 2 precursor							104.0	78.0	86.0					21																	11058319		692	1591	2283			85319							g.chr21:11058319C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058319C>T						BAGE_uc002yiw.1_RNA	p.V41M	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	329	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.121G>A																																																																																					0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		25	253	0	0	0	0	25	253				
KRTAP10-8	386681	broad.mit.edu	37	21	46032693	46032693	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:46032693C>T	ENST00000334662.2	+	1	698	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	226	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P226S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						tgtgcctgtcccctcctgttg	0.716																																						uc002zfo.1		NA																	1	Substitution - Missense(1)		skin(1)	large_intestine(1)|breast(1)	2						c.(676-678)CCC>TCC		keratin associated protein 10-8							77.0	84.0	82.0					21																	46032693		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032693C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.676C>T	21.37:g.46032693C>T	ENSP00000335565:p.Pro226Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P226S	NM_198695	NP_941968	P60410	KR108_HUMAN			1	698	+			226			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.676C>T	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.633047	0.00114	.	.	ENSG00000187766	ENST00000334662	T	0.00705	5.81	2.79	-4.48	0.03515	.	.	.	.	.	T	0.00412	0.0013	N	0.05554	-0.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44128	-0.9348	9	0.02654	T	1	.	8.051	0.30577	0.0:0.4978:0.0:0.5022	.	226	P60410	KR108_HUMAN	S	226	ENSP00000335565:P226S	ENSP00000335565:P226S	P	+	1	0	KRTAP10-8	44857121	0.000000	0.05858	0.072000	0.20136	0.003000	0.03518	-0.445000	0.06845	-0.704000	0.05042	-1.465000	0.01017	CCC		0.716	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		62	73	0	0	0	0	62	73				
USP18	11274	broad.mit.edu	37	22	18643000	18643000	+	Missense_Mutation	SNP	C	C	A	rs138144879	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:18643000C>A	ENST00000215794.7	+	3	649	c.219C>A	c.(217-219)ttC>ttA	p.F73L		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	73	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTCAGGTGTTCGTAATGAATG	0.418																																						uc002zny.2		NA																	0				breast(1)	1						c.(217-219)TTC>TTA		ubiquitin specific protease 18							165.0	142.0	150.0					22																	18643000		2203	4300	6503	SO:0001583	missense	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18643000C>A	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.219C>A	22.37:g.18643000C>A	ENSP00000215794:p.Phe73Leu						p.F73L	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			3	557	+			73					Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	c.219C>A	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	1.187	-0.636454	0.03557	.	.	ENSG00000184979	ENST00000215794	T	0.01379	4.96	4.64	-1.64	0.08318	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.235732	0.38548	N	0.001647	T	0.00580	0.0019	N	0.02973	-0.45	0.09310	N	0.999996	B	0.30914	0.3	B	0.33339	0.162	T	0.45323	-0.9269	10	0.02654	T	1	.	5.6968	0.17861	0.1222:0.6159:0.1706:0.0913	.	73	Q9UMW8	UBP18_HUMAN	L	73	ENSP00000215794:F73L	ENSP00000215794:F73L	F	+	3	2	USP18	17023000	0.016000	0.18221	0.054000	0.19295	0.049000	0.14656	-0.059000	0.11731	-0.362000	0.08113	-1.490000	0.00973	TTC		0.418	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			260	31	1	0	2.6e-106	3.99e-106	260	31				
APOL3	80833	broad.mit.edu	37	22	36541544	36541544	+	Silent	SNP	G	G	A	rs61731691		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:36541544G>A	ENST00000349314.2	-	2	364	c.327C>T	c.(325-327)ttC>ttT	p.F109F	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_Silent_p.F38F	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	109					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCGCAGTCACGAATCTCTTCC	0.552																																						uc003aot.2		NA																	0					0						c.(325-327)TTC>TTT		apolipoprotein L3 isoform 1							84.0	85.0	85.0					22																	36541544		2203	4300	6503	SO:0001819	synonymous_variant	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36541544G>A	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.327C>T	22.37:g.36541544G>A						APOL3_uc003aoq.2_Silent_p.F38F|APOL3_uc003aor.2_Silent_p.F38F|APOL3_uc003aos.2_Silent_p.F38F|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	p.F109F	NM_145640	NP_663615	O95236	APOL3_HUMAN			2	365	-			109					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	ENST00000349314.2	37	c.327C>T	CCDS13922.1																																																																																				0.552	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		50	105	0	0	0	0	50	105				
LRRN1	57633	broad.mit.edu	37	3	3886403	3886403	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:3886403C>A	ENST00000319331.3	+	2	839	c.78C>A	c.(76-78)tcC>tcA	p.S26S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	26	LRRNT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCGAGTCTTCCATACAGAATA	0.463																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(76-78)TCC>TCA		leucine rich repeat neuronal 1 precursor							118.0	112.0	114.0					3																	3886403		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3886403C>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.78C>A	3.37:g.3886403C>A						SUMF1_uc003bps.1_Intron	p.S26S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	839	+			26			LRRNT.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.78C>A	CCDS33685.1																																																																																				0.463	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		59	19	1	0	4.1e-35	5.86e-35	59	19				
PLCL2	23228	broad.mit.edu	37	3	17056221	17056221	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:17056221G>A	ENST00000418129.2	+	3	2923	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	PLCL2_ENST00000396755.2_Missense_Mutation_p.E820K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E820K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	946	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTCATTCAAGGAGCTGTGTGG	0.463																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2812-2814)GAG>AAG		phospholipase C-like 2 isoform 1							130.0	131.0	131.0					3																	17056221		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056221G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2458G>A	3.37:g.17056221G>A	ENSP00000409637:p.Glu820Lys					PLCL2_uc011awd.1_Missense_Mutation_p.E820K	p.E938K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			6	2917	+			946					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2812G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408365	0.96051	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.18960	2.22;2.18;2.22	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.48258	-0.9051	9	0.87932	D	0	.	19.0078	0.92859	0.0:0.0:1.0:0.0	.	946	Q9UPR0	PLCL2_HUMAN	K	820;947;820;820	ENSP00000409637:E820K;ENSP00000379979:E820K;ENSP00000412836:E820K	ENSP00000285094:E947K	E	+	1	0	PLCL2	17031225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.551000	0.86045	0.655000	0.94253	GAG		0.463	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			173	43	0	0	0	0	173	43				
EOMES	8320	broad.mit.edu	37	3	27763724	27763724	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:27763724G>T	ENST00000295743.4	-	1	265	c.62C>A	c.(61-63)cCg>cAg	p.P21Q	EOMES_ENST00000449599.1_Missense_Mutation_p.P21Q|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	21					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACTCTCCAGCGGGTAGAAGTG	0.642																																						uc003cdx.2		NA																	0				ovary(3)|breast(1)	4						c.(61-63)CCG>CAG		eomesodermin							9.0	11.0	10.0					3																	27763724		1848	3950	5798	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763724G>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.62C>A	3.37:g.27763724G>T	ENSP00000295743:p.Pro21Gln					EOMES_uc003cdy.3_Missense_Mutation_p.P21Q|EOMES_uc010hfn.2_Missense_Mutation_p.P21Q|EOMES_uc011axc.1_Intron	p.P21Q	NM_005442	NP_005433	O95936	EOMES_HUMAN			1	62	-			21					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.62C>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460917	0.63513	.	.	ENSG00000163508	ENST00000295743;ENST00000449599	D;D	0.87103	-2.21;-2.2	4.68	4.68	0.58851	.	4.638650	0.00654	N	0.000564	D	0.90525	0.7031	L	0.34521	1.04	0.80722	D	1	P;P;P	0.46457	0.878;0.739;0.621	P;P;B	0.54759	0.76;0.505;0.308	T	0.78275	-0.2267	10	0.72032	D	0.01	.	16.5707	0.84612	0.0:0.0:1.0:0.0	.	21;21;21	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	Q	21	ENSP00000295743:P21Q;ENSP00000388620:P21Q	ENSP00000295743:P21Q	P	-	2	0	EOMES	27738728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.306000	0.51881	2.450000	0.82876	0.456000	0.33151	CCG		0.642	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		6	2	1	0	0.00198382	0.00206833	6	2				
LAMB2	3913	broad.mit.edu	37	3	49161040	49161040	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49161040C>T	ENST00000418109.1	-	26	3986	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.E1274E|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1274	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGTCAGGTGCTCAGTGGCCT	0.557																																						uc003cwe.2		NA																	0				ovary(3)	3						c.(3820-3822)GAG>GAA		laminin, beta 2 precursor							117.0	111.0	113.0					3																	49161040		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161040C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3822G>A	3.37:g.49161040C>T						USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	p.E1274E	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	4121	-			1274			Domain II.|Potential.		Q16321	Silent	SNP	ENST00000418109.1	37	c.3822G>A	CCDS2789.1																																																																																				0.557	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		69	25	0	0	0	0	69	25				
GMPPB	29925	broad.mit.edu	37	3	49755619	49755619	+	3'UTR	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49755619T>G	ENST00000480687.1	-	0	4765				AMIGO3_ENST00000535833.1_Missense_Mutation_p.Q427P|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q427P|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCAGCTCTTGGAGCGGGCT	0.682																																						uc003cxj.2		NA																	0				pancreas(1)	1						c.(1279-1281)CAA>CCA		adhesion molecule with Ig-like domain 3							68.0	63.0	65.0					3																	49755619		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755619T>G	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3566A>C	3.37:g.49755619T>G						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.Q427P	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1620	-			427			Cytoplasmic (Potential).		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1280A>C	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	T	9.992	1.231165	0.22626	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.60548	0.18;0.18	5.15	2.74	0.32292	.	0.640056	0.16020	N	0.233333	T	0.47322	0.1439	L	0.54323	1.7	0.80722	D	1	B	0.19073	0.033	B	0.14023	0.01	T	0.38564	-0.9655	10	0.49607	T	0.09	-14.0769	4.2657	0.10763	0.1469:0.1637:0.0:0.6894	.	427	Q86WK7	AMGO3_HUMAN	P	427	ENSP00000323096:Q427P;ENSP00000439268:Q427P	ENSP00000323096:Q427P	Q	-	2	0	AMIGO3	49730623	0.992000	0.36948	0.998000	0.56505	0.023000	0.10783	1.099000	0.31013	0.301000	0.22738	0.379000	0.24179	CAA		0.682	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		74	27	0	0	0	0	74	27				
CACNA2D2	9254	broad.mit.edu	37	3	50421637	50421637	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:50421637G>A	ENST00000479441.1	-	6	641	c.642C>T	c.(640-642)atC>atT	p.I214I	CACNA2D2_ENST00000360963.3_Silent_p.I145I|CACNA2D2_ENST00000424201.2_Silent_p.I214I|CACNA2D2_ENST00000435965.1_Silent_p.I214I|CACNA2D2_ENST00000266039.3_Silent_p.I214I|CACNA2D2_ENST00000429770.1_Silent_p.I214I|CACNA2D2_ENST00000395083.1_Silent_p.I214I|CACNA2D2_ENST00000423994.2_Silent_p.I214I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	214					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGCCTTTGTAGATGTCCGTAG	0.567																																						uc003daq.2		NA																	0				lung(1)	1						c.(640-642)ATC>ATT		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						289.0	263.0	272.0					3																	50421637		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50421637G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.642C>T	3.37:g.50421637G>A						CACNA2D2_uc003dap.2_Silent_p.I214I	p.I214I	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	6	680	-			214			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.642C>T	CCDS54588.1																																																																																				0.567	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		219	70	0	0	0	0	219	70				
FOXP1	27086	broad.mit.edu	37	3	71247394	71247394	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:71247394C>A	ENST00000318789.4	-	6	664	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FOXP1_ENST00000498215.1_Missense_Mutation_p.G47W|FOXP1_ENST00000493089.1_Missense_Mutation_p.G47W|FOXP1_ENST00000468577.1_Missense_Mutation_p.G47W|FOXP1_ENST00000475937.1_Missense_Mutation_p.G47W|FOXP1_ENST00000484350.1_Missense_Mutation_p.G47W|FOXP1_ENST00000318779.3_Missense_Mutation_p.G47W	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	47					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCAGCTGCCCCGATGTCCACG	0.627			T	PAX5	ALL																																	uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(139-141)GGG>TGG		forkhead box P1 isoform 1							60.0	65.0	63.0					3																	71247394		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71247394C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.139G>T	3.37:g.71247394C>A	ENSP00000318902:p.Gly47Trp					FOXP1_uc003dom.2_Missense_Mutation_p.G47W|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.G47W|FOXP1_uc003dop.2_Missense_Mutation_p.G47W|FOXP1_uc003doq.1_Missense_Mutation_p.G47W|FOXP1_uc003dos.2_Missense_Mutation_p.G47W	p.G47W	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	2	462	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	47					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.139G>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431933	0.83776	.	.	ENSG00000114861	ENST00000318789;ENST00000475937;ENST00000339693;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000318779	D;D;D;D;D;D;T	0.89810	-2.57;-2.57;-2.57;-2.57;-2.53;-2.37;0.52	5.77	5.77	0.91146	.	0.180964	0.49916	D	0.000132	D	0.92397	0.7587	L	0.36672	1.1	0.46725	D	0.999173	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.997;0.997	D;D;D;P;P	0.87578	0.998;0.957;0.937;0.867;0.867	D	0.92627	0.6113	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	47;47;47;47;47	Q9BSG9;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	W	47	ENSP00000318902:G47W;ENSP00000419393:G47W;ENSP00000418524:G47W;ENSP00000418102:G47W;ENSP00000417857:G47W;ENSP00000418883:G47W;ENSP00000318721:G47W	ENSP00000318721:G47W	G	-	1	0	FOXP1	71330084	0.998000	0.40836	0.334000	0.25495	0.917000	0.54804	5.087000	0.64480	2.885000	0.99019	0.655000	0.94253	GGG		0.627	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		85	38	1	0	5e-47	7.46e-47	85	38				
PDZRN3	23024	broad.mit.edu	37	3	73433465	73433465	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:73433465T>C	ENST00000263666.4	-	10	2366	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D408G|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D408G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D473G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D468G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	751					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGTCCTTGTCGGATTTCTC	0.617																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2251-2253)GAC>GGC		PDZ domain containing ring finger 3							38.0	37.0	38.0					3																	73433465		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433465T>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2252A>G	3.37:g.73433465T>C	ENSP00000263666:p.Asp751Gly					PDZRN3_uc011bgh.1_Missense_Mutation_p.D408G|PDZRN3_uc010hoe.1_Missense_Mutation_p.D449G|PDZRN3_uc011bgf.1_Missense_Mutation_p.D468G|PDZRN3_uc011bgg.1_Missense_Mutation_p.D471G	p.D751G	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2348	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	751					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2252A>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051968	0.75960	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.20738	2.05;2.84;2.76;2.76;2.86;2.81	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.992;0.998;0.999;0.995	T	0.61461	-0.7058	10	0.87932	D	0	.	14.6766	0.68983	0.0:0.0:0.0:1.0	.	473;468;468;751	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	G	751;473;408;408;468;449	ENSP00000263666:D751G;ENSP00000442026:D473G;ENSP00000418168:D408G;ENSP00000418484:D408G;ENSP00000418624:D468G;ENSP00000419250:D449G	ENSP00000263666:D751G	D	-	2	0	PDZRN3	73516155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.791000	0.85805	1.939000	0.56221	0.482000	0.46254	GAC		0.617	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		26	12	0	0	0	0	26	12				
ROBO2	6092	broad.mit.edu	37	3	77666777	77666777	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:77666777G>A	ENST00000461745.1	+	22	4307	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	ROBO2_ENST00000487694.3_Missense_Mutation_p.G1152D|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1136D|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1136					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGTTCGAGGCGTGGCTTCT	0.527																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3406-3408)GGC>GAC		roundabout, axon guidance receptor, homolog 2							109.0	105.0	106.0					3																	77666777		2039	4195	6234	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666777G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3407G>A	3.37:g.77666777G>A	ENSP00000417164:p.Gly1136Asp					ROBO2_uc003dpz.2_Missense_Mutation_p.G1140D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1140D|ROBO2_uc003dqa.2_Missense_Mutation_p.G263D	p.G1136D	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4050	+			1136			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3407G>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.388686|3.388686	0.61956|0.61956	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.70516	.|-0.49;-0.45;-0.26	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.46442	.|D	.|0.000300	D|D	0.83908|0.83908	0.5356|0.5356	M|M	0.67397|0.67397	2.05|2.05	.|0.32997	.|D	.|0.525753	.|D;D;P	.|0.89917	.|1.0;0.997;0.956	.|D;D;P	.|0.87578	.|0.998;0.925;0.527	D|D	0.84970|0.84970	0.0882|0.0882	4|9	.|0.87932	.|D	.|0	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1152;1136;1136	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	T|D	293|1152;1152;1136;1136	.|ENSP00000417335:G1152D;ENSP00000417164:G1136D;ENSP00000327536:G1136D	.|ENSP00000327536:G1136D	A|G	+|+	1|2	0|0	ROBO2|ROBO2	77749467|77749467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	9.476000|9.476000	0.97823|0.97823	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GCG|GGC		0.527	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		85	21	0	0	0	0	85	21				
EPHA3	2042	broad.mit.edu	37	3	89521722	89521722	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:89521722G>T	ENST00000336596.2	+	16	3024	c.2799G>T	c.(2797-2799)acG>acT	p.T933T	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	933	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.		T -> M (in a lung carcinoma sample; somatic mutation). {ECO:0000269|PubMed:16941478}.		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)		AAATCTTCACGGGTGTGGAGT	0.413										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.(2797-2799)ACG>ACT		ephrin receptor EphA3 isoform a precursor							117.0	108.0	111.0					3																	89521722		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521722G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2799G>T	3.37:g.89521722G>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.T933T	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	3024	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	933			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2799G>T	CCDS2922.1																																																																																				0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		60	28	1	0	1.32e-49	1.98e-49	60	28				
NSUN3	63899	broad.mit.edu	37	3	93783304	93783304	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783304G>T	ENST00000314622.4	+	2	247	c.36G>T	c.(34-36)aaG>aaT	p.K12N	DHFRL1_ENST00000481631.1_5'Flank|DHFRL1_ENST00000394221.2_5'Flank|NSUN3_ENST00000485793.1_3'UTR|DHFRL1_ENST00000314636.2_5'Flank	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	12							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAGGGGAAGCTTGCAAAAC	0.358																																						uc003drl.1		NA																	0				skin(1)	1						c.(34-36)AAG>AAT		NOL1/NOP2/Sun domain family, member 3							88.0	91.0	90.0					3																	93783304		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93783304G>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.36G>T	3.37:g.93783304G>T	ENSP00000318986:p.Lys12Asn					DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'Flank	p.K12N	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			2	152	+			12					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.36G>T	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870899	0.51695	.	.	ENSG00000178694	ENST00000314622	T	0.26660	1.72	5.7	2.83	0.33086	.	0.156153	0.56097	N	0.000036	T	0.16727	0.0402	L	0.31926	0.97	0.43271	D	0.995229	B	0.23735	0.09	B	0.20184	0.028	T	0.06180	-1.0841	10	0.51188	T	0.08	-8.2931	5.6613	0.17670	0.0764:0.1374:0.6441:0.1422	.	12	Q9H649	NSUN3_HUMAN	N	12	ENSP00000318986:K12N	ENSP00000318986:K12N	K	+	3	2	NSUN3	95265994	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.570000	0.36439	0.715000	0.32103	0.655000	0.94253	AAG		0.358	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		30	105	1	0	2.82e-10	3.31e-10	30	105				
NSUN3	63899	broad.mit.edu	37	3	93783306	93783306	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783306T>A	ENST00000314622.4	+	2	249	c.38T>A	c.(37-39)cTt>cAt	p.L13H	DHFRL1_ENST00000481631.1_5'Flank|DHFRL1_ENST00000394221.2_5'Flank|NSUN3_ENST00000485793.1_3'UTR|DHFRL1_ENST00000314636.2_5'Flank	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	13							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GAGGGGAAGCTTGCAAAACAG	0.363																																						uc003drl.1		NA																	0				skin(1)	1						c.(37-39)CTT>CAT		NOL1/NOP2/Sun domain family, member 3							90.0	93.0	92.0					3																	93783306		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93783306T>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.38T>A	3.37:g.93783306T>A	ENSP00000318986:p.Leu13His					DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'Flank	p.L13H	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			2	154	+			13					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.38T>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559635	0.45590	.	.	ENSG00000178694	ENST00000314622	T	0.23552	1.9	5.7	5.7	0.88788	.	0.373902	0.27996	N	0.017009	T	0.22551	0.0544	L	0.39898	1.24	0.40817	D	0.983475	B	0.30281	0.275	B	0.28139	0.086	T	0.04467	-1.0949	10	0.36615	T	0.2	-6.5211	13.4866	0.61369	0.0:0.0:0.0:1.0	.	13	Q9H649	NSUN3_HUMAN	H	13	ENSP00000318986:L13H	ENSP00000318986:L13H	L	+	2	0	NSUN3	95265996	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	1.295000	0.33377	2.171000	0.68590	0.533000	0.62120	CTT		0.363	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		30	104	0	0	0	0	30	104				
EPHA6	285220	broad.mit.edu	37	3	96706794	96706794	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:96706794C>T	ENST00000389672.5	+	3	1109	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	EPHA6_ENST00000542517.1_Silent_p.C263C|EPHA6_ENST00000470610.2_Silent_p.C357C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	263	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGAAGGTGCATCTGCAGTA	0.383																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1069-1071)TGC>TGT		EPH receptor A6 isoform a							80.0	77.0	78.0					3																	96706794		1928	4143	6071	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706794C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1071C>T	3.37:g.96706794C>T						EPHA6_uc003drp.1_Silent_p.C357C	p.C357C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1114	+			262			Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.1071C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	2.370	-0.344550	0.05208	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.27	0.149	0.14863	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53443	-0.8438	4	.	.	.	.	11.5028	0.50448	0.0:0.5049:0.0:0.4951	.	.	.	.	Y	302	.	.	H	+	1	0	EPHA6	98189484	0.921000	0.31238	0.997000	0.53966	0.553000	0.35397	-0.002000	0.12924	-0.139000	0.11414	0.650000	0.86243	CAT		0.383	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		57	207	0	0	0	0	57	207				
FILIP1L	11259	broad.mit.edu	37	3	99567165	99567165	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:99567165G>A	ENST00000354552.3	-	5	3825	c.3355C>T	c.(3355-3357)Cct>Tct	p.P1119S	FILIP1L_ENST00000331335.5_Missense_Mutation_p.P1119S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P879S|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P695S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P879S|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1119						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CGAGGAAGAGGTGTGGCTGTT	0.413																																						uc003dtm.2		NA																	0				ovary(1)	1						c.(3355-3357)CCT>TCT		filamin A interacting protein 1-like isoform 1							284.0	289.0	288.0					3																	99567165		2003	4162	6165	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567165G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3355C>T	3.37:g.99567165G>A	ENSP00000346560:p.Pro1119Ser					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.P1119S|FILIP1L_uc010hpf.2_Missense_Mutation_p.P695S|FILIP1L_uc010hpg.2_Missense_Mutation_p.P879S|FILIP1L_uc003dtn.2_Missense_Mutation_p.P879S|FILIP1L_uc003dtp.1_Missense_Mutation_p.P879S	p.P1119S	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	3818	-			1119					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.3355C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	0.221	-1.028937	0.02045	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620	T;T;T;T;T	0.20598	2.38;2.06;2.06;2.38;2.06	5.79	-0.525	0.11917	.	0.253090	0.28156	N	0.016396	T	0.06600	0.0169	N	0.04880	-0.145	0.38351	D	0.944331	B;B	0.10296	0.003;0.002	B;B	0.16289	0.015;0.007	T	0.44360	-0.9333	10	0.02654	T	1	-1.2013	6.5002	0.22164	0.1565:0.0:0.5393:0.3042	.	1119;1119	Q4L180-2;Q4L180	.;FIL1L_HUMAN	S	98;1119;695;879;1119;879;865	ENSP00000346560:P1119S;ENSP00000417774:P695S;ENSP00000419642:P879S;ENSP00000327880:P1119S;ENSP00000373192:P879S	ENSP00000327880:P1119S	P	-	1	0	FILIP1L	101049855	1.000000	0.71417	0.897000	0.35233	0.923000	0.55619	2.194000	0.42668	-0.421000	0.07416	-0.782000	0.03352	CCT		0.413	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		75	258	0	0	0	0	75	258				
GPR128	84873	broad.mit.edu	37	3	100349615	100349615	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100349615G>T	ENST00000273352.3	+	3	564	c.296G>T	c.(295-297)gGa>gTa	p.G99V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	99					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGATATGGACCATCCTTG	0.348																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(295-297)GGA>GTA		G protein-coupled receptor 128 precursor							89.0	89.0	89.0					3																	100349615		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100349615G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.296G>T	3.37:g.100349615G>T	ENSP00000273352:p.Gly99Val						p.G99V	NM_032787	NP_116176	Q96K78	GP128_HUMAN			3	564	+			99			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.296G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343086	0.61073	.	.	ENSG00000144820	ENST00000273352	T	0.47528	0.84	5.82	4.94	0.65067	.	0.246550	0.29192	N	0.012879	T	0.61198	0.2328	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	P	0.56823	0.807	T	0.65685	-0.6108	10	0.72032	D	0.01	.	12.2481	0.54583	0.0:0.0:0.83:0.17	.	99	Q96K78	GP128_HUMAN	V	99	ENSP00000273352:G99V	ENSP00000273352:G99V	G	+	2	0	GPR128	101832305	0.998000	0.40836	0.846000	0.33378	0.798000	0.45092	4.289000	0.59013	1.451000	0.47736	0.650000	0.86243	GGA		0.348	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			88	107	1	0	5.34e-38	7.71e-38	88	107				
GPR128	84873	broad.mit.edu	37	3	100373869	100373869	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100373869C>A	ENST00000273352.3	+	12	1838	c.1570C>A	c.(1570-1572)Ccc>Acc	p.P524T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P229T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	524					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATCCCGAATCCCATGTGCAC	0.423																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(1570-1572)CCC>ACC		G protein-coupled receptor 128 precursor							230.0	197.0	208.0					3																	100373869		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373869C>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1570C>A	3.37:g.100373869C>A	ENSP00000273352:p.Pro524Thr					GPR128_uc011bhc.1_Missense_Mutation_p.P225T|GPR128_uc003dud.2_Missense_Mutation_p.P47T	p.P524T	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1838	+			524			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1570C>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344661	0.24426	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.36157	1.27;1.27	5.59	1.56	0.23342	GPCR, family 2-like (1);	0.558233	0.17577	N	0.169273	T	0.22126	0.0533	N	0.25286	0.73	0.09310	N	1	B;B	0.17268	0.004;0.021	B;B	0.20955	0.029;0.032	T	0.18053	-1.0349	10	0.56958	D	0.05	.	6.3317	0.21274	0.0:0.4467:0.3857:0.1676	.	229;524	E9PHI0;Q96K78	.;GP128_HUMAN	T	524;229	ENSP00000273352:P524T;ENSP00000419788:P229T	ENSP00000273352:P524T	P	+	1	0	GPR128	101856559	0.000000	0.05858	0.030000	0.17652	0.025000	0.11179	-0.077000	0.11394	0.304000	0.22809	-0.176000	0.13171	CCC		0.423	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			286	380	1	0	2.3e-82	3.52e-82	286	380				
CEP97	79598	broad.mit.edu	37	3	101477063	101477063	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:101477063C>G	ENST00000341893.3	+	9	2365	c.1613C>G	c.(1612-1614)cCc>cGc	p.P538R	CEP97_ENST00000494050.1_Missense_Mutation_p.P479R|CEP97_ENST00000327230.4_Missense_Mutation_p.P538R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	538	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGAAACTTCCCATGATTTTA	0.418																																						uc003dvk.1		NA																	0				ovary(2)	2						c.(1612-1614)CCC>CGC		centrosomal protein 97kDa							98.0	109.0	105.0					3																	101477063		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101477063C>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1613C>G	3.37:g.101477063C>G	ENSP00000342510:p.Pro538Arg					CEP97_uc010hpm.1_Missense_Mutation_p.P504R|CEP97_uc011bhf.1_Missense_Mutation_p.P479R|CEP97_uc003dvl.1_Missense_Mutation_p.P234R|CEP97_uc003dvm.1_Missense_Mutation_p.P376R	p.P538R	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			9	1640	+			538			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1613C>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704461	0.30232	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53857	0.76;0.73;0.6	5.25	3.4	0.38934	.	0.838692	0.11022	N	0.608283	T	0.44540	0.1298	L	0.32530	0.975	0.09310	N	1	P;P;P	0.43477	0.664;0.773;0.808	B;P;B	0.48840	0.28;0.592;0.4	T	0.22208	-1.0223	10	0.16420	T	0.52	-0.0514	4.493	0.11822	0.3097:0.5216:0.0:0.1687	.	479;538;538	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	R	538;538;479	ENSP00000342510:P538R;ENSP00000325881:P538R;ENSP00000418185:P479R	ENSP00000325881:P538R	P	+	2	0	CEP97	102959753	0.007000	0.16637	0.245000	0.24217	0.620000	0.37586	0.382000	0.20635	1.167000	0.42706	0.305000	0.20034	CCC		0.418	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		90	349	0	0	0	0	90	349				
MYH15	22989	broad.mit.edu	37	3	108159997	108159997	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:108159997C>T	ENST00000273353.3	-	24	2882	c.2826G>A	c.(2824-2826)gaG>gaA	p.E942E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	942						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTATCTCCTCTTCTTCCT	0.478																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(2824-2826)GAG>GAA		myosin, heavy polypeptide 15							141.0	142.0	142.0					3																	108159997		1974	4168	6142	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108159997C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2826G>A	3.37:g.108159997C>T							p.E942E	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			24	2883	-			942			Potential.			Silent	SNP	ENST00000273353.3	37	c.2826G>A	CCDS43127.1																																																																																				0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		83	256	0	0	0	0	83	256				
PLSCR5	389158	broad.mit.edu	37	3	146309588	146309588	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:146309588G>T	ENST00000443512.1	-	5	1537	c.534C>A	c.(532-534)atC>atA	p.I178I	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Silent_p.I166I|PLSCR5_ENST00000492200.1_Silent_p.I178I	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	178										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGCATTTTGGATTGTGAATT	0.388																																						uc003ewb.2		NA																	0					0						c.(532-534)ATC>ATA		phospholipid scramblase family, member 5							65.0	62.0	63.0					3																	146309588		1849	4106	5955	SO:0001819	synonymous_variant	389158							g.chr3:146309588G>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.534C>A	3.37:g.146309588G>T						PLSCR5_uc010hvb.2_Silent_p.I166I|PLSCR5_uc010hvc.2_Silent_p.I178I	p.I178I	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			5	1538	-			178					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.534C>A	CCDS46931.1																																																																																				0.388	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		61	26	1	0	2.23e-26	3.03e-26	61	26				
ZIC1	7545	broad.mit.edu	37	3	147128064	147128064	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:147128064G>C	ENST00000282928.4	+	1	894	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	55					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E55D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCGCACGAGCTGGCTTCGG	0.711																																						uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(163-165)GAG>GAC		zinc finger protein of the cerebellum 1							26.0	29.0	28.0					3																	147128064		2197	4292	6489	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128064G>C	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.165G>C	3.37:g.147128064G>C	ENSP00000282928:p.Glu55Asp						p.E55D	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	884	+			55					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.165G>C	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.022026	0.02061	.	.	ENSG00000152977	ENST00000282928	T	0.11604	2.76	4.04	2.19	0.27852	.	0.058894	0.64402	D	0.000002	T	0.02807	0.0084	N	0.02315	-0.6	0.32718	N	0.510692	B	0.02656	0.0	B	0.04013	0.001	T	0.42716	-0.9435	10	0.02654	T	1	.	5.2226	0.15377	0.1916:0.1684:0.64:0.0	.	55	Q15915	ZIC1_HUMAN	D	55	ENSP00000282928:E55D	ENSP00000282928:E55D	E	+	3	2	ZIC1	148610754	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.190000	0.32126	0.189000	0.20188	-0.417000	0.06048	GAG		0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		89	50	0	0	0	0	89	50				
ERICH6	131831	broad.mit.edu	37	3	150400034	150400034	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:150400034C>A	ENST00000295910.6	-	7	905	c.853G>T	c.(853-855)Gtg>Ttg	p.V285L	FAM194A_ENST00000491361.1_Missense_Mutation_p.V139L	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAACATCCACATTAGAAAAA	0.358																																						uc003eyg.2		NA																	0				skin(2)|ovary(1)	3						c.(853-855)GTG>TTG		hypothetical protein LOC131831							80.0	82.0	81.0					3																	150400034		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150400034C>A																												ENST00000295910.6:c.853G>T	3.37:g.150400034C>A	ENSP00000295910:p.Val285Leu					FAM194A_uc003eyh.2_Missense_Mutation_p.V139L	p.V285L	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			7	910	-			285						Missense_Mutation	SNP	ENST00000295910.6	37	c.853G>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	4.694	0.129100	0.08981	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.13657	2.75;2.57	4.21	-8.42	0.00957	.	1.200580	0.05896	N	0.629111	T	0.10035	0.0246	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24261	-1.0165	10	0.21014	T	0.42	-3.0782	9.7958	0.40733	0.1133:0.1589:0.0:0.7278	.	285	Q7L0X2	F194A_HUMAN	L	285;139;243	ENSP00000295910:V285L;ENSP00000419366:V139L	ENSP00000295910:V285L	V	-	1	0	FAM194A	151882724	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-1.939000	0.01545	-2.285000	0.00671	-0.258000	0.10820	GTG		0.358	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			88	123	1	0	2.01e-38	2.92e-38	88	123				
GPR149	344758	broad.mit.edu	37	3	154146445	154146445	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:154146445G>T	ENST00000389740.2	-	1	1059	c.960C>A	c.(958-960)gtC>gtA	p.V320V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	320					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCCAAAGGACGACTTTTGTAA	0.567																																						uc003faa.2		NA																	0				ovary(6)	6						c.(958-960)GTC>GTA		G protein-coupled receptor 149							116.0	114.0	115.0					3																	154146445		1984	4147	6131	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146445G>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.960C>A	3.37:g.154146445G>T							p.V320V	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	1060	-			320			Helical; Name=6; (Potential).			Silent	SNP	ENST00000389740.2	37	c.960C>A	CCDS43162.1																																																																																				0.567	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		229	311	1	0	4.77e-124	7.34e-124	229	311				
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	C	G	rs542596956		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:164786619C>G	ENST00000264382.3	-	5	436	c.374G>C	c.(373-375)gGa>gCa	p.G125A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	125	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGCTTCAACTCCTTAAAGAAT	0.303										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(373-375)GGA>GCA		sucrase-isomaltase	Acarbose(DB00284)						88.0	92.0	91.0					3																	164786619		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786619C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.374-1G>C	3.37:g.164786619C>G		HNSCC(35;0.089)					p.G125A	NM_001041	NP_001032	P14410	SUIS_HUMAN			5	436	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	125			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.374G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999891	0.35320	.	.	ENSG00000090402	ENST00000264382	D	0.86497	-2.13	5.5	4.62	0.57501	Glycoside hydrolase-type carbohydrate-binding (1);	0.299183	0.37393	N	0.002104	D	0.88760	0.6524	M	0.89968	3.075	0.45227	D	0.998232	B	0.32467	0.372	B	0.27715	0.082	D	0.89093	0.3484	10	0.72032	D	0.01	.	14.3598	0.66764	0.0:0.9286:0.0:0.0714	.	125	P14410	SUIS_HUMAN	A	125	ENSP00000264382:G125A	ENSP00000264382:G125A	G	-	2	0	SI	166269313	0.951000	0.32395	0.997000	0.53966	0.568000	0.35870	2.027000	0.41078	1.456000	0.47831	0.467000	0.42956	GGA		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	5	253	0	0	0	0	5	253				
PDCD10	11235	broad.mit.edu	37	3	167437849	167437849	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:167437849C>T	ENST00000392750.2	-	3	514		c.e3+1		PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000497056.2_Splice_Site|PDCD10_ENST00000471885.1_Splice_Site|PDCD10_ENST00000487678.1_5'Flank|PDCD10_ENST00000461494.1_Splice_Site|PDCD10_ENST00000487947.2_Splice_Site|PDCD10_ENST00000470131.1_Splice_Site|PDCD10_ENST00000473645.2_Splice_Site	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACCCAACTCACCTCATTAAAC	0.378																																						uc003fex.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.e3+1		programmed cell death 10							208.0	195.0	200.0					3																	167437849		2203	4300	6503	SO:0001630	splice_region_variant	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167437849C>T	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.96+1G>A	3.37:g.167437849C>T						PDCD10_uc003fez.2_Splice_Site_p.E32_splice|PDCD10_uc003fey.2_Splice_Site_p.E32_splice	p.E32_splice	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			3	494	-								A8K515|D3DNN5|O14811	Splice_Site	SNP	ENST00000392750.2	37	c.96_splice	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850218	0.32699	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000479121;ENST00000462725;ENST00000492139;ENST00000464360	.	.	.	6.17	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6436	0.77029	0.0:0.741:0.259:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDCD10	168920543	1.000000	0.71417	0.982000	0.44146	0.395000	0.30598	7.450000	0.80656	0.906000	0.36621	-0.165000	0.13383	.		0.378	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217	Intron	57	208	0	0	0	0	57	208				
USP13	8975	broad.mit.edu	37	3	179472519	179472519	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:179472519G>T	ENST00000263966.3	+	15	2269		c.e15-1		USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Splice_Site	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCATTTTGCAGATGTTTCTAT	0.448																																						uc003fkh.2		NA																	0				ovary(1)	1						c.e15-1		ubiquitin thiolesterase 13							125.0	123.0	123.0					3																	179472519		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179472519G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1799-1G>T	3.37:g.179472519G>T						USP13_uc003fkf.2_Intron	p.D600_splice	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		15	1880	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)							A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	37	c.1799_splice	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493070	0.84962	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP13	180955213	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.096000	0.94182	2.880000	0.98712	0.650000	0.86243	.		0.448	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Intron	89	293	1	0	1.54e-61	2.35e-61	89	293				
VPS8	23355	broad.mit.edu	37	3	184675175	184675175	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:184675175G>T	ENST00000437079.3	+	37	3220	c.3049G>T	c.(3049-3051)Gta>Tta	p.V1017L	VPS8_ENST00000446204.2_Missense_Mutation_p.V925L|VPS8_ENST00000287546.4_Missense_Mutation_p.V1017L|VPS8_ENST00000436792.2_Missense_Mutation_p.V1015L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1017							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGGTATTCATGTAAATCAAGA	0.333																																						uc003fpb.1		NA																	0				ovary(1)	1						c.(3043-3045)GTA>TTA		vacuolar protein sorting 8 homolog isoform b							72.0	67.0	68.0					3																	184675175		1856	4089	5945	SO:0001583	missense	23355						zinc ion binding	g.chr3:184675175G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3049G>T	3.37:g.184675175G>T	ENSP00000397879:p.Val1017Leu					VPS8_uc010hyd.1_Missense_Mutation_p.V925L|VPS8_uc010hye.1_Missense_Mutation_p.V444L	p.V1015L	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		36	3214	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1017					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3043G>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	5.758	0.324273	0.10900	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.46	-6.02	0.02192	Quinonprotein alcohol dehydrogenase-like (1);	1.140040	0.06557	N	0.746064	T	0.15609	0.0376	L	0.58101	1.795	0.09310	N	1	B;B;B	0.22211	0.0;0.066;0.0	B;B;B	0.19391	0.0;0.025;0.001	T	0.45991	-0.9223	10	0.06757	T	0.87	-25.7678	15.1084	0.72336	0.6086:0.0:0.3914:0.0	.	1017;925;1015	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	L	1017;1017;1015;925	ENSP00000287546:V1017L;ENSP00000397879:V1017L;ENSP00000404704:V1015L;ENSP00000405483:V925L	ENSP00000287546:V1017L	V	+	1	0	VPS8	186157869	0.000000	0.05858	0.003000	0.11579	0.561000	0.35649	-2.010000	0.01454	-1.815000	0.01222	-0.977000	0.02584	GTA		0.333	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		9	60	1	0	3.1e-07	3.48e-07	9	60				
CCDC50	152137	broad.mit.edu	37	3	191078925	191078925	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:191078925C>T	ENST00000392455.3	+	4	905	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CCDC50_ENST00000392456.3_Missense_Mutation_p.R103C	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	103						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAGAGACGACGCATTCAGGA	0.433																																						uc003fsw.2		NA																	0					0						c.(307-309)CGC>TGC		Ymer protein short isoform							92.0	87.0	89.0					3																	191078925		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191078925C>T	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.307C>T	3.37:g.191078925C>T	ENSP00000376249:p.Arg103Cys					CCDC50_uc003fsv.2_Missense_Mutation_p.R103C	p.R103C	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	4	897	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		103			Potential.		Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.307C>T	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865559	0.91511	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.54479	0.57;0.57	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.76372	-0.2983	10	0.87932	D	0	.	17.8145	0.88627	0.0:1.0:0.0:0.0	.	103;103	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	C	103	ENSP00000376249:R103C;ENSP00000376250:R103C	ENSP00000376249:R103C	R	+	1	0	CCDC50	192561619	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.273000	0.51623	2.809000	0.96659	0.655000	0.94253	CGC		0.433	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		31	171	0	0	0	0	31	171				
CPN2	1370	broad.mit.edu	37	3	194063363	194063363	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:194063363G>T	ENST00000323830.3	-	2	158	c.69C>A	c.(67-69)ccC>ccA	p.P23P	CPN2_ENST00000429275.1_Silent_p.P23P	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	23	LRRNT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CACAACCCATGGGACAGGGCT	0.582																																						uc003fts.2		NA																	0				ovary(5)	5						c.(67-69)CCC>CCA		carboxypeptidase N, polypeptide 2							53.0	58.0	56.0					3																	194063363		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194063363G>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.69C>A	3.37:g.194063363G>T							p.P23P	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	159	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		23			LRRNT.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.69C>A	CCDS33920.1																																																																																				0.582	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		237	88	1	0	6.36e-115	9.78e-115	237	88				
MUC4	4585	broad.mit.edu	37	3	195505813	195505814	+	Missense_Mutation	DNP	TC	TC	CT	rs199819876|rs562396488	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:195505813_195505814TC>CT	ENST00000463781.3	-	2	13096_13097	c.12637_12638GA>AG	c.(12637-12639)GAc>AGc	p.D4213S	MUC4_ENST00000475231.1_Missense_Mutation_p.D4213S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)|p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGGA	0.594																																						uc011bto.1		NA																	3	Substitution - Missense(3)		endometrium(3)		0						c.(12253-12255)GAC>AGC		mucin 4 isoform a																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813_195505814TC>CT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12637_12638delinsCT	3.37:g.195505813_195505814delinsCT	ENSP00000417498:p.Asp4213Ser					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.D4085S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12713_12714	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	DNP	ENST00000463781.3	37	c.12253_12254GA>AG	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	26	0	0	0	0	4	26				
UBXN7	26043	broad.mit.edu	37	3	196098827	196098827	+	Silent	SNP	G	G	A	rs570162608		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:196098827G>A	ENST00000296328.4	-	6	629	c.555C>T	c.(553-555)cgC>cgT	p.R185R	UBXN7_ENST00000535858.1_Silent_p.R37R|UBXN7_ENST00000428095.1_Silent_p.R23R	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	185						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCCACACATCGCGGTTGAGGC	0.413																																						uc003fwm.3		NA																	0				ovary(2)|pancreas(1)	3						c.(553-555)CGC>CGT		UBX domain containing 7							124.0	116.0	119.0					3																	196098827		1909	4123	6032	SO:0001819	synonymous_variant	26043						protein binding	g.chr3:196098827G>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.555C>T	3.37:g.196098827G>A						UBXN7_uc003fwn.3_Silent_p.R37R|UBXN7_uc010iae.2_Silent_p.R23R	p.R185R	NM_015562	NP_056377	O94888	UBXN7_HUMAN			6	630	-			185					D3DXB3|Q6ZP77|Q86X20|Q8N327	Silent	SNP	ENST00000296328.4	37	c.555C>T	CCDS43191.1																																																																																				0.413	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		91	333	0	0	0	0	91	333				
SLIT2	9353	broad.mit.edu	37	4	20543121	20543121	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20543121G>T	ENST00000504154.1	+	20	2274	c.2022G>T	c.(2020-2022)tgG>tgT	p.W674C	SLIT2_ENST00000503823.1_Missense_Mutation_p.W666C|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678C|SLIT2_ENST00000503837.1_Missense_Mutation_p.W670C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	674	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTGGCTTGGTTGGGAGAGT	0.458																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2020-2022)TGG>TGT		slit homolog 2 precursor							103.0	92.0	96.0					4																	20543121		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543121G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2022G>T	4.37:g.20543121G>T	ENSP00000422591:p.Trp674Cys					SLIT2_uc003gps.1_Missense_Mutation_p.W666C	p.W674C	NM_004787	NP_004778	O94813	SLIT2_HUMAN			20	2226	+			674			LRRCT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2022G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298401	0.81025	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.82433	-1.59;-1.61;-1.52;-1.57	6.06	6.06	0.98353	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96013	0.9003	10	0.72032	D	0.01	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	666;674	O94813-3;O94813	.;SLIT2_HUMAN	C	666;674;678;670;670	ENSP00000427548:W666C;ENSP00000422591:W674C;ENSP00000273739:W678C;ENSP00000422261:W670C	ENSP00000273739:W678C	W	+	3	0	SLIT2	20152219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.871000	0.98454	0.655000	0.94253	TGG		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			46	11	1	0	1.11e-35	1.59e-35	46	11				
SLIT2	9353	broad.mit.edu	37	4	20555507	20555507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20555507C>T	ENST00000504154.1	+	26	2893	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	SLIT2_ENST00000503823.1_Missense_Mutation_p.P873S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P885S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P877S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	881	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATATAAGGAGCCTGGAATTGC	0.428																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2641-2643)CCT>TCT		slit homolog 2 precursor							142.0	133.0	136.0					4																	20555507		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555507C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2641C>T	4.37:g.20555507C>T	ENSP00000422591:p.Pro881Ser					SLIT2_uc003gps.1_Missense_Mutation_p.P873S	p.P881S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			26	2845	+			881			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2641C>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.688283|4.688283	0.88639|0.88639	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000509941|ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.|T;T;T;T;D	.|0.89810	.|-1.38;-1.39;-1.32;-1.38;-2.57	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92532|0.92532	0.7628|0.7628	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.965;0.988	D|D	0.88409|0.88409	0.3020|0.3020	5|10	.|0.06891	.|T	.|0.86	.|.	19.2533|19.2533	0.93933|0.93933	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|873;881	.|O94813-3;O94813	.|.;SLIT2_HUMAN	V|S	11|873;881;885;877;877;82	.|ENSP00000427548:P873S;ENSP00000422591:P881S;ENSP00000273739:P885S;ENSP00000422261:P877S;ENSP00000421975:P82S	.|ENSP00000273739:P885S	A|P	+|+	2|1	0|0	SLIT2|SLIT2	20164605|20164605	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.823000|0.823000	0.46562|0.46562	7.776000|7.776000	0.85560|0.85560	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	GCC|CCT		0.428	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			98	12	0	0	0	0	98	12				
GABRA2	2555	broad.mit.edu	37	4	46252334	46252334	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46252334G>A	ENST00000510861.1	-	10	1520	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000381620.4_Silent_p.V449V|GABRA2_ENST00000514090.1_Silent_p.V449V|GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000507069.1_Silent_p.V509V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCAAGGACTGACCCCTAATA	0.338																																						uc003gxc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1345-1347)GTC>GTT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74.0	79.0	77.0					4																	46252334		2202	4294	6496	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252334G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1347C>T	4.37:g.46252334G>A						GABRA2_uc010igc.2_Silent_p.V449V|GABRA2_uc011bzc.1_Silent_p.V454V	p.V449V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	2020	-			449					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.1347C>T	CCDS3471.1																																																																																				0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			70	23	0	0	0	0	70	23				
GABRA4	2557	broad.mit.edu	37	4	46930523	46930523	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46930523C>G	ENST00000264318.3	-	9	2366	c.1384G>C	c.(1384-1386)Gga>Cga	p.G462R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	462					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGCATATATCCAGTTCGGATA	0.473																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1384-1386)GGA>CGA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	102.0	105.0					4																	46930523		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930523C>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1384G>C	4.37:g.46930523C>G	ENSP00000264318:p.Gly462Arg						p.G462R	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1523	-			462			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1384G>C	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	7.889	0.731919	0.15507	.	.	ENSG00000109158	ENST00000264318	T	0.80738	-1.41	5.45	4.61	0.57282	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.442440	0.04208	N	0.331311	T	0.77916	0.4202	L	0.40543	1.245	0.29212	N	0.874484	B	0.27316	0.175	B	0.31869	0.137	T	0.62210	-0.6902	10	0.24483	T	0.36	.	11.8205	0.52237	0.0:0.9188:0.0:0.0812	.	462	P48169	GBRA4_HUMAN	R	462	ENSP00000264318:G462R	ENSP00000264318:G462R	G	-	1	0	GABRA4	46625280	1.000000	0.71417	0.859000	0.33776	0.016000	0.09150	2.453000	0.44970	1.309000	0.44985	0.650000	0.86243	GGA		0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			68	18	0	0	0	0	68	18				
UGT2B7	7364	broad.mit.edu	37	4	69978432	69978432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:69978432C>A	ENST00000305231.7	+	6	1614	c.1568C>A	c.(1567-1569)gCa>gAa	p.A523E	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	523					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCTAGAAAAGCAAAGAAGGGA	0.378																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1567-1569)GCA>GAA		UDP glucuronosyltransferase 2B7 precursor							122.0	122.0	122.0					4																	69978432		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978432C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1568C>A	4.37:g.69978432C>A	ENSP00000304811:p.Ala523Glu					UGT2B7_uc010ihq.2_3'UTR	p.A523E	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1614	+			523					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1568C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.004957	0.02112	.	.	ENSG00000171234	ENST00000305231	T	0.58358	0.34	2.13	1.26	0.21427	.	0.737531	0.11094	U	0.600429	T	0.19846	0.0477	N	0.01109	-1.01	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.25916	-1.0118	9	.	.	.	.	8.033	0.30476	0.0:0.5089:0.4911:0.0	.	523	P16662	UD2B7_HUMAN	E	523	ENSP00000304811:A523E	.	A	+	2	0	UGT2B7	70013021	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.321000	0.08018	0.235000	0.21160	-0.754000	0.03487	GCA		0.378	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		48	25	1	0	1.67e-32	2.35e-32	48	25				
UGT2B4	7363	broad.mit.edu	37	4	70352383	70352383	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:70352383T>A	ENST00000305107.6	-	4	1080	c.1034A>T	c.(1033-1035)gAt>gTt	p.D345V	UGT2B4_ENST00000381096.3_Missense_Mutation_p.D209V|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D345V|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	345					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TCCTAAAGTATCTGGTTTATT	0.348																																						uc003hek.3		NA																	0				skin(2)	2						c.(1033-1035)GAT>GTT		UDP glucuronosyltransferase 2B4 precursor							141.0	143.0	142.0					4																	70352383		2202	4298	6500	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70352383T>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1034A>T	4.37:g.70352383T>A	ENSP00000305221:p.Asp345Val					UGT2B4_uc011cap.1_Missense_Mutation_p.D209V|UGT2B4_uc003hel.3_Missense_Mutation_p.D345V	p.D345V	NM_021139	NP_066962	P06133	UD2B4_HUMAN			4	1081	-			345					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1034A>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	7.990	0.753128	0.15778	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.60672	0.17;0.17;0.17	1.97	-3.91	0.04168	.	0.558595	0.16015	U	0.233567	T	0.52964	0.1767	M	0.62154	1.92	0.22811	N	0.998705	B;P;B	0.35077	0.178;0.483;0.022	B;B;B	0.41619	0.177;0.361;0.19	T	0.54873	-0.8228	10	0.62326	D	0.03	.	8.8465	0.35172	0.0:0.0:0.5556:0.4444	.	209;345;345	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	V	345;345;209	ENSP00000421290:D345V;ENSP00000305221:D345V;ENSP00000370486:D209V	ENSP00000305221:D345V	D	-	2	0	UGT2B4	70386972	0.000000	0.05858	0.009000	0.14445	0.050000	0.14768	-1.451000	0.02387	-0.738000	0.04817	0.260000	0.18958	GAT		0.348	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		102	40	0	0	0	0	102	40				
KIAA1109	84162	broad.mit.edu	37	4	123207877	123207877	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123207877A>G	ENST00000264501.4	+	53	9592	c.9219A>G	c.(9217-9219)atA>atG	p.I3073M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I3073M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I3073M			Q2LD37	K1109_HUMAN	KIAA1109	3073					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTGGAGTATAGATGAACTGC	0.378																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(9217-9219)ATA>ATG		fragile site-associated protein							113.0	106.0	108.0					4																	123207877		1884	4114	5998	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123207877A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9219A>G	4.37:g.123207877A>G	ENSP00000264501:p.Ile3073Met					KIAA1109_uc003iel.1_Missense_Mutation_p.I1008M	p.I3073M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			51	9264	+			3073					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.9219A>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.238904|2.238904	0.39598|0.39598	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.72|5.72	0.0734|0.0734	0.14390|0.14390	.|.	0.238634|.	0.36409|.	N|.	0.002619|.	T|T	0.14399|0.14399	0.0348|0.0348	N|N	0.08118|0.08118	0|0	0.30753|0.30753	N|N	0.744933|0.744933	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.11329|.	0.006;0.003|.	T|T	0.29088|0.29088	-1.0023|-1.0023	10|5	0.33940|.	T|.	0.23|.	.|.	2.7116|2.7116	0.05176|0.05176	0.4007:0.3569:0.1278:0.1146|0.4007:0.3569:0.1278:0.1146	.|.	3073;3073|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	M|G	3073|1031	ENSP00000264501:I3073M;ENSP00000373390:I3073M;ENSP00000389925:I3073M|.	ENSP00000264501:I3073M|.	I|R	+|+	3|1	3|2	KIAA1109|KIAA1109	123427327|123427327	0.694000|0.694000	0.27738|0.27738	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	-0.047000|-0.047000	0.11963|0.11963	-0.180000|-0.180000	0.10637|0.10637	0.528000|0.528000	0.53228|0.53228	ATA|AGA		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		66	23	0	0	0	0	66	23				
SPATA5	166378	broad.mit.edu	37	4	123868598	123868598	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123868598C>T	ENST00000274008.4	+	9	1738	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	557					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAATAGTGCTCATGGATACGT	0.478																																						uc003iez.3		NA																	0					0						c.(1669-1671)CAT>TAT		spermatogenesis associated 5							120.0	117.0	118.0					4																	123868598		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123868598C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1669C>T	4.37:g.123868598C>T	ENSP00000274008:p.His557Tyr					SPATA5_uc003iey.2_Missense_Mutation_p.H556Y	p.H557Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			9	1742	+			557					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1669C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496305	0.85069	.	.	ENSG00000145375	ENST00000274008	D	0.94723	-3.5	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	M	0.77313	2.365	0.54753	D	0.999985	D;B	0.89917	1.0;0.2	D;B	0.77557	0.99;0.154	D	0.97165	0.9840	10	0.59425	D	0.04	-32.1676	19.9462	0.97183	0.0:1.0:0.0:0.0	.	557;557	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	Y	557	ENSP00000274008:H557Y	ENSP00000274008:H557Y	H	+	1	0	SPATA5	124088048	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	6.826000	0.75298	2.717000	0.92951	0.585000	0.79938	CAT		0.478	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		70	26	0	0	0	0	70	26				
FGA	2243	broad.mit.edu	37	4	155507095	155507095	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:155507095C>A	ENST00000302053.3	-	5	1564	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	FGA_ENST00000403106.3_Missense_Mutation_p.D496Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	496					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGCCTAAATCCATTGCCTCG	0.473																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(1486-1488)GAT>TAT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						133.0	127.0	129.0					4																	155507095		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507095C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1486G>T	4.37:g.155507095C>A	ENSP00000306361:p.Asp496Tyr					FGA_uc003ioe.1_Missense_Mutation_p.D496Y|FGA_uc003iof.1_Intron	p.D496Y	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1544	-	all_hematologic(180;0.215)	Renal(120;0.0458)	496			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1486G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097444	0.56075	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58797	0.31;0.31	5.74	4.9	0.64082	Fibrinogen alpha C domain (1);	.	.	.	.	T	0.69531	0.3121	L	0.49126	1.545	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.939;0.946	T	0.62001	-0.6946	9	0.72032	D	0.01	.	13.1387	0.59423	0.0:0.9262:0.0:0.0738	.	496;496	P02671-2;P02671	.;FIBA_HUMAN	Y	496	ENSP00000306361:D496Y;ENSP00000385981:D496Y	ENSP00000306361:D496Y	D	-	1	0	FGA	155726545	0.058000	0.20735	0.008000	0.14137	0.002000	0.02628	1.129000	0.31381	1.428000	0.47296	0.655000	0.94253	GAT		0.473	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		87	33	1	0	9.37e-40	1.36e-39	87	33				
GUCY1A3	2982	broad.mit.edu	37	4	156632328	156632328	+	Silent	SNP	G	G	T	rs201711745		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156632328G>T	ENST00000296518.7	+	6	1220	c.1011G>T	c.(1009-1011)ggG>ggT	p.G337G	GUCY1A3_ENST00000455639.2_Silent_p.G337G|GUCY1A3_ENST00000506455.1_Silent_p.G337G|GUCY1A3_ENST00000511108.1_Silent_p.G337G|GUCY1A3_ENST00000511507.1_Silent_p.G337G|GUCY1A3_ENST00000513574.1_Silent_p.G337G|GUCY1A3_ENST00000393832.3_Silent_p.G79G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					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)		CGTTTAGCGGGATCATGACTA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.001		0.0	False		,,,				2504	0.0					uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1009-1011)GGG>GGT		guanylate cyclase 1, soluble, alpha 3 isoform A							82.0	84.0	83.0					4																	156632328		2202	4299	6501	SO:0001819	synonymous_variant	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.chr4:156632328G>T		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.1011G>T	4.37:g.156632328G>T						GUCY1A3_uc003iou.2_Silent_p.G337G|GUCY1A3_uc010iqc.2_Silent_p.G337G|GUCY1A3_uc003iow.2_Silent_p.G337G|GUCY1A3_uc010iqd.2_Silent_p.G336G|GUCY1A3_uc003iox.2_Silent_p.G337G|GUCY1A3_uc003ioz.2_Silent_p.G102G|GUCY1A3_uc003ioy.2_Silent_p.G337G|GUCY1A3_uc010iqe.2_Silent_p.G102G|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.G337G	p.G337G	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1547	+	all_hematologic(180;0.24)	Renal(120;0.0854)	337					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.1011G>T	CCDS34085.1																																																																																				0.383	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			73	30	1	0	2.93e-43	4.32e-43	73	30				
ASIC5	51802	broad.mit.edu	37	4	156752976	156752976	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156752976C>A	ENST00000537611.2	-	9	1373	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	443					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TAACACTTACCAAGTAACTCA	0.378																																						uc003ipe.1		NA																	0				ovary(2)|skin(1)	3						c.(1327-1329)GCA>TCA		amiloride-sensitive cation channel 5,							110.0	117.0	115.0					4																	156752976		2203	4300	6503	SO:0001630	splice_region_variant	51802					integral to membrane|plasma membrane		g.chr4:156752976C>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1327+1G>T	4.37:g.156752976C>A							p.A443S	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	9	1374	-	all_hematologic(180;0.24)	Renal(120;0.0458)	443	A->F,T: Activates the channel.|A->C: Slightly activates the channel.		Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.1327G>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	7.182	0.589824	0.13812	.	.	ENSG00000256394	ENST00000537611	T	0.64085	-0.08	4.5	4.5	0.54988	.	0.089222	0.47852	D	0.000213	T	0.46639	0.1403	N	0.12502	0.225	0.40841	D	0.983678	B	0.30870	0.298	B	0.38378	0.272	T	0.43540	-0.9385	9	.	.	.	-27.2407	13.1083	0.59259	0.1606:0.8394:0.0:0.0	.	443	Q9NY37	ACCN5_HUMAN	S	443	ENSP00000442477:A443S	.	A	-	1	0	ACCN5	156972426	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.048000	0.49862	2.450000	0.82876	0.585000	0.79938	GCA		0.378	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		Missense_Mutation	54	26	1	0	2.7e-35	3.86e-35	54	26				
ASIC5	51802	broad.mit.edu	37	4	156764923	156764923	+	Missense_Mutation	SNP	G	G	C	rs145138118		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156764923G>C	ENST00000537611.2	-	5	817	c.771C>G	c.(769-771)atC>atG	p.I257M		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	257					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TTGGTGAATGGATAACAAAGA	0.443																																						uc003ipe.1		NA																	0				ovary(2)|skin(1)	3						c.(769-771)ATC>ATG		amiloride-sensitive cation channel 5,							142.0	116.0	125.0					4																	156764923		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764923G>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.771C>G	4.37:g.156764923G>C	ENSP00000442477:p.Ile257Met						p.I257M	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	5	818	-	all_hematologic(180;0.24)	Renal(120;0.0458)	257			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.771C>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227341	0.39399	.	.	ENSG00000256394	ENST00000537611	T	0.72505	-0.66	4.58	0.211	0.15236	.	0.170959	0.40064	N	0.001191	T	0.80428	0.4621	M	0.85041	2.73	0.38065	D	0.936206	D	0.61080	0.989	D	0.75020	0.985	T	0.77378	-0.2610	10	0.87932	D	0	-13.0242	4.4934	0.11824	0.3693:0.0:0.4902:0.1405	.	257	Q9NY37	ACCN5_HUMAN	M	257	ENSP00000442477:I257M	ENSP00000264432:I257M	I	-	3	3	ACCN5	156984373	1.000000	0.71417	0.926000	0.36857	0.433000	0.31745	0.611000	0.24268	-0.116000	0.11893	0.591000	0.81541	ATC		0.443	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			43	19	0	0	0	0	43	19				
GRIA2	2891	broad.mit.edu	37	4	158262467	158262467	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:158262467C>T	ENST00000264426.9	+	12	2175	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	GRIA2_ENST00000507898.1_Silent_p.I585I|GRIA2_ENST00000393815.2_Silent_p.I585I|GRIA2_ENST00000449365.1_Silent_p.I585I|GRIA2_ENST00000296526.7_Silent_p.I632I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	632					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTACCCTGATCATAATCTCCT	0.433																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1894-1896)ATC>ATT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						197.0	190.0	192.0					4																	158262467		2203	4299	6502	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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	g.chr4:158262467C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1896C>T	4.37:g.158262467C>T						GRIA2_uc011cit.1_Silent_p.I585I|GRIA2_uc003ipl.3_Silent_p.I632I|GRIA2_uc003ipk.3_Silent_p.I585I|GRIA2_uc010iqh.1_RNA	p.I632I	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	12	2355	+	all_hematologic(180;0.24)	Renal(120;0.0458)	632			Helical; (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.1896C>T	CCDS43274.1																																																																																				0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			154	58	0	0	0	0	154	58				
ADAM29	11086	broad.mit.edu	37	4	175896743	175896743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:175896743G>T	ENST00000359240.3	+	5	737	c.67G>T	c.(67-69)Gag>Tag	p.E23*	ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E23*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E23*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E23*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	23					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATCCAGGATGAGCACCCCCA	0.498																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(67-69)GAG>TAG		ADAM metallopeptidase domain 29 preproprotein							101.0	100.0	100.0					4																	175896743		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896743G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.67G>T	4.37:g.175896743G>T	ENSP00000352177:p.Glu23*					ADAM29_uc003iud.2_Nonsense_Mutation_p.E23*|ADAM29_uc010irr.2_Nonsense_Mutation_p.E23*|ADAM29_uc011cki.1_Nonsense_Mutation_p.E23*	p.E23*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	737	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	23					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.67G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087972	0.94100	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	.	.	.	4.3	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7856	0.08698	0.2276:0.206:0.5665:0.0	.	.	.	.	X	23	.	.	E	+	1	0	ADAM29	176133318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	0.568000	0.29311	0.637000	0.83480	GAG		0.498	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				63	20	1	0	7.56e-43	1.11e-42	63	20				
FAT1	2195	broad.mit.edu	37	4	187630465	187630465	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:187630465C>G	ENST00000441802.2	-	2	726	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCATCCGTGGCGCTGACTCTT	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(517-519)GCC>CCC		FAT tumor suppressor 1 precursor							173.0	179.0	177.0					4																	187630465		2174	4279	6453	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630465C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.517G>C	4.37:g.187630465C>G	ENSP00000406229:p.Ala173Pro	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.A173P	p.A173P	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	705	-			173			Extracellular (Potential).|Cadherin 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.517G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435716	0.83885	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61980	0.06;0.06	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91707	0.5378	10	0.66056	D	0.02	.	18.2894	0.90124	0.0:1.0:0.0:0.0	.	173	Q14517	FAT1_HUMAN	P	173	ENSP00000406229:A173P;ENSP00000423736:A173P	ENSP00000260147:A173P	A	-	1	0	FAT1	187867459	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.651000	0.83577	2.657000	0.90304	0.591000	0.81541	GCC		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		137	35	0	0	0	0	137	35				
ZFP42	132625	broad.mit.edu	37	4	188924029	188924029	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:188924029G>T	ENST00000326866.4	+	4	476	c.68G>T	c.(67-69)aGt>aTt	p.S23I	ZFP42_ENST00000509524.1_Missense_Mutation_p.S23I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	23					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGCCCCCAGTGGGGCTAAG	0.547																																						uc003izg.1		NA																	0				ovary(1)|skin(1)	2						c.(67-69)AGT>ATT		zinc finger protein 42							70.0	70.0	70.0					4																	188924029		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924029G>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.68G>T	4.37:g.188924029G>T	ENSP00000317686:p.Ser23Ile					ZFP42_uc003izh.1_Missense_Mutation_p.S23I|ZFP42_uc003izi.1_Missense_Mutation_p.S23I	p.S23I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	313	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	23					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.68G>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988313	0.18966	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.12465	2.68;2.68	4.41	0.0308	0.14168	.	0.440023	0.18687	U	0.133975	T	0.08846	0.0219	L	0.38175	1.15	0.09310	N	1	B	0.29716	0.255	B	0.29440	0.102	T	0.22417	-1.0217	10	0.56958	D	0.05	.	3.4939	0.07648	0.245:0.0:0.3871:0.368	.	23	Q96MM3	ZFP42_HUMAN	I	23	ENSP00000317686:S23I;ENSP00000424662:S23I	ENSP00000317686:S23I	S	+	2	0	ZFP42	189161023	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.808000	0.04515	-0.010000	0.14271	0.655000	0.94253	AGT		0.547	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		50	15	1	0	3.22e-24	4.32e-24	50	15				
SEMA5A	9037	broad.mit.edu	37	5	9052125	9052125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:9052125C>T	ENST00000382496.5	-	20	3370	c.2705G>A	c.(2704-2706)tGg>tAg	p.W902*	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	902	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGTCCGACCACTCCGACCA	0.587																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2704-2706)TGG>TAG		semaphorin 5A precursor							26.0	29.0	28.0					5																	9052125		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052125C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2705G>A	5.37:g.9052125C>T	ENSP00000371936:p.Trp902*						p.W902*	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			20	3417	-			902			Extracellular (Potential).|TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.2705G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	45	11.450798	0.99562	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4228	0.83772	0.0:1.0:0.0:0.0	.	.	.	.	X	902	.	ENSP00000371936:W902X	W	-	2	0	SEMA5A	9105125	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.573000	0.82421	2.540000	0.85666	0.655000	0.94253	TGG		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			16	46	0	0	0	0	16	46				
CTNND2	1501	broad.mit.edu	37	5	11346684	11346684	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:11346684G>T	ENST00000304623.8	-	9	1617	c.1428C>A	c.(1426-1428)caC>caA	p.H476Q	CTNND2_ENST00000511377.1_Missense_Mutation_p.H385Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.H476Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.H139Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.H43Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	476					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						TCTGTGGGCCGTGCTGGCTGC	0.617																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1426-1428)CAC>CAA		catenin (cadherin-associated protein), delta 2							38.0	42.0	41.0					5																	11346684		2203	4300	6503	SO:0001583	missense	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.chr5:11346684G>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.1428C>A	5.37:g.11346684G>T	ENSP00000307134:p.His476Gln					CTNND2_uc010itt.2_Missense_Mutation_p.H385Q|CTNND2_uc011cmy.1_Missense_Mutation_p.H139Q|CTNND2_uc011cmz.1_Missense_Mutation_p.H43Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.H43Q	p.H476Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1573	-			476					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1428C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196804	0.58126	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76316	-0.91;-0.99;-0.9;-1.01;-1.0	5.8	-8.73	0.00841	.	0.157818	0.42172	D	0.000747	T	0.58652	0.2137	L	0.29908	0.895	0.29350	N	0.865431	B;B;P	0.39551	0.0;0.0;0.678	B;B;B	0.30716	0.001;0.0;0.119	T	0.45160	-0.9280	10	0.31617	T	0.26	-11.1555	20.6671	0.99681	0.24:0.0:0.76:0.0	.	139;43;476	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	476;476;385;43;139	ENSP00000307134:H476Q;ENSP00000352661:H476Q;ENSP00000426510:H385Q;ENSP00000391155:H43Q;ENSP00000426887:H139Q	ENSP00000307134:H476Q	H	-	3	2	CTNND2	11399684	0.980000	0.34600	0.458000	0.27068	0.908000	0.53690	-0.020000	0.12525	-2.101000	0.00846	-0.968000	0.02614	CAC		0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		46	98	1	0	3.68e-32	5.17e-32	46	98				
DNAH5	1767	broad.mit.edu	37	5	13752361	13752361	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13752361A>G	ENST00000265104.4	-	64	11014	c.10910T>C	c.(10909-10911)cTg>cCg	p.L3637P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3637	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGTCTTCCAGGTGGTTTCT	0.403									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10909-10911)CTG>CCG		dynein, axonemal, heavy chain 5							140.0	127.0	132.0					5																	13752361		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13752361A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10910T>C	5.37:g.13752361A>G	ENSP00000265104:p.Leu3637Pro					DNAH5_uc003jfc.2_5'UTR	p.L3637P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			64	10952	-	Lung NSC(4;0.00476)		3637			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10910T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476036	0.84640	.	.	ENSG00000039139	ENST00000265104	T	0.25579	1.79	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.71256	0.3318	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84934	0.0861	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	3637	Q8TE73	DYH5_HUMAN	P	3637	ENSP00000265104:L3637P	ENSP00000265104:L3637P	L	-	2	0	DNAH5	13805361	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.740000	0.91579	2.311000	0.77944	0.533000	0.62120	CTG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		69	147	0	0	0	0	69	147				
DNAH5	1767	broad.mit.edu	37	5	13841950	13841950	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13841950C>G	ENST00000265104.4	-	33	5439	c.5335G>C	c.(5335-5337)Gtc>Ctc	p.V1779L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1779	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCCATGACAGGTTTATCC	0.383									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5335-5337)GTC>CTC		dynein, axonemal, heavy chain 5							105.0	106.0	106.0					5																	13841950		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841950C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5335G>C	5.37:g.13841950C>G	ENSP00000265104:p.Val1779Leu						p.V1779L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5377	-	Lung NSC(4;0.00476)		1779			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5335G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087541	0.76642	.	.	ENSG00000039139	ENST00000265104	T	0.66460	-0.21	5.82	5.82	0.92795	Dynein heavy chain, domain-2 (1);	0.059508	0.64402	D	0.000003	D	0.84174	0.5414	M	0.87682	2.9	0.80722	D	1	D	0.55172	0.97	D	0.63283	0.913	D	0.85835	0.1394	10	0.72032	D	0.01	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	1779	Q8TE73	DYH5_HUMAN	L	1779	ENSP00000265104:V1779L	ENSP00000265104:V1779L	V	-	1	0	DNAH5	13894950	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	6.050000	0.71063	2.752000	0.94435	0.655000	0.94253	GTC		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		49	183	0	0	0	0	49	183				
DNAH5	1767	broad.mit.edu	37	5	13894843	13894843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13894843C>A	ENST00000265104.4	-	16	2451	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	783	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGAGAGCTTCATCCACTTTG	0.423									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2347-2349)GAA>TAA		dynein, axonemal, heavy chain 5							177.0	165.0	169.0					5																	13894843		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13894843C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2347G>T	5.37:g.13894843C>A	ENSP00000265104:p.Glu783*						p.E783*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			16	2389	-	Lung NSC(4;0.00476)		783			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.2347G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	39	7.620239	0.98393	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.44	5.44	0.79542	.	0.097230	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.4706	0.67514	0.0:0.9271:0.0:0.0729	.	.	.	.	X	783	.	ENSP00000265104:E783X	E	-	1	0	DNAH5	13947843	0.991000	0.36638	0.999000	0.59377	0.666000	0.39218	2.262000	0.43285	2.551000	0.86045	0.491000	0.48974	GAA		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		98	209	1	0	9.47e-33	1.34e-32	98	209				
FBXL7	23194	broad.mit.edu	37	5	15936859	15936859	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:15936859A>T	ENST00000504595.1	+	4	1521	c.1040A>T	c.(1039-1041)aAg>aTg	p.K347M	FBXL7_ENST00000510662.1_Missense_Mutation_p.K300M|FBXL7_ENST00000329673.7_Missense_Mutation_p.K335M|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	347					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAGATCGCCAAGCTGGAGTCC	0.657																																						uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(1039-1041)AAG>ATG		F-box and leucine-rich repeat protein 7							23.0	27.0	26.0					5																	15936859		2175	4273	6448	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936859A>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1040A>T	5.37:g.15936859A>T	ENSP00000423630:p.Lys347Met						p.K347M	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1521	+			347			LRR 7.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1040A>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956032	0.34471	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.03330	3.97;3.97;3.97	5.37	4.19	0.49359	.	0.050745	0.85682	D	0.000000	T	0.17066	0.0410	M	0.84773	2.715	0.49051	D	0.99974	D	0.76494	0.999	P	0.61201	0.885	T	0.00538	-1.1682	10	0.72032	D	0.01	.	12.4233	0.55532	0.8593:0.1407:0.0:0.0	.	347	Q9UJT9	FBXL7_HUMAN	M	347;300;335	ENSP00000423630:K347M;ENSP00000425184:K300M;ENSP00000329632:K335M	ENSP00000329632:K335M	K	+	2	0	FBXL7	15989859	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	5.855000	0.69510	0.864000	0.35578	-0.313000	0.08912	AAG		0.657	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		22	12	0	0	0	0	22	12				
PRDM9	56979	broad.mit.edu	37	5	23526959	23526959	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:23526959G>C	ENST00000296682.3	+	11	1944	c.1762G>C	c.(1762-1764)Ggc>Cgc	p.G588R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	588					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGTGGGCGGGGCTTTAGCTG	0.607										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1762-1764)GGC>CGC		PR domain containing 9							43.0	49.0	47.0					5																	23526959		2169	4269	6438	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526959G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1762G>C	5.37:g.23526959G>C	ENSP00000296682:p.Gly588Arg	HNSCC(3;0.000094)					p.G588R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1944	+			588			C2H2-type 4.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1762G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819350	0.32145	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.22336	1.96	2.31	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.562650	0.13436	N	0.388022	T	0.16128	0.0388	N	0.16656	0.425	0.25270	N	0.989528	B	0.34226	0.443	B	0.43445	0.42	T	0.28427	-1.0044	10	0.41790	T	0.15	-7.4354	7.0505	0.25071	0.1552:0.0:0.8448:0.0	.	588	Q9NQV7	PRDM9_HUMAN	R	588;354	ENSP00000296682:G588R	ENSP00000253473:G354R	G	+	1	0	PRDM9	23562716	0.000000	0.05858	0.986000	0.45419	0.528000	0.34623	-0.216000	0.09266	0.501000	0.28013	0.400000	0.26472	GGC		0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		46	157	0	0	0	0	46	157				
CDH10	1008	broad.mit.edu	37	5	24505268	24505268	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:24505268C>A	ENST00000264463.4	-	8	1853	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R449L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATAGTTCACGGTCAAGAGG	0.328										HNSCC(23;0.051)																												uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1345-1347)CGT>CTT		cadherin 10, type 2 preproprotein							99.0	95.0	96.0					5																	24505268		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505268C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1346G>T	5.37:g.24505268C>A	ENSP00000264463:p.Arg449Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.R449L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1678	-			449			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1346G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109571	0.94292	.	.	ENSG00000040731	ENST00000264463	T	0.59638	0.25	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	H	0.98980	4.39	0.53688	D	0.999973	D	0.71674	0.998	D	0.71184	0.972	D	0.91774	0.5430	10	0.87932	D	0	.	18.5333	0.91000	0.0:1.0:0.0:0.0	.	449	Q9Y6N8	CAD10_HUMAN	L	449	ENSP00000264463:R449L	ENSP00000264463:R449L	R	-	2	0	CDH10	24541025	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.433000	0.80362	2.600000	0.87896	0.655000	0.94253	CGT		0.328	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		31	105	1	0	4.03e-09	4.64e-09	31	105				
PDZD2	23037	broad.mit.edu	37	5	31983279	31983279	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:31983279C>T	ENST00000438447.1	+	3	883	c.495C>T	c.(493-495)tgC>tgT	p.C165C	PDZD2_ENST00000282493.3_Silent_p.C165C			O15018	PDZD2_HUMAN	PDZ domain containing 2	165	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGAGCAGTGCTGGAATGGCG	0.527																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(493-495)TGC>TGT		PDZ domain containing 2							92.0	97.0	95.0					5																	31983279		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983279C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.495C>T	5.37:g.31983279C>T						PDZD2_uc003jhm.2_Silent_p.C165C|PDZD2_uc011cnx.1_5'UTR	p.C165C	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	883	+			165			PDZ 1.		Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.495C>T	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			49	151	0	0	0	0	49	151				
ZFR	51663	broad.mit.edu	37	5	32420208	32420208	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:32420208G>T	ENST00000265069.8	-	3	240	c.138C>A	c.(136-138)agC>agA	p.S46R		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	46	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGGCTGCTGGCTACATTGTG	0.398																																						uc003jhr.1		NA																	0					0						c.(136-138)AGC>AGA		zinc finger RNA binding protein							26.0	21.0	23.0					5																	32420208		2203	4300	6503	SO:0001630	splice_region_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32420208G>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.138-1C>A	5.37:g.32420208G>T						ZFR_uc010iun.1_Missense_Mutation_p.S46R	p.S46R	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	218	-			46			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.138C>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051375	0.75960	.	.	ENSG00000056097	ENST00000265069;ENST00000382126;ENST00000416900	T	0.08807	3.05	6.04	6.04	0.98038	.	0.093183	0.64402	D	0.000001	T	0.23370	0.0565	L	0.39898	1.24	0.80722	D	1	D;D	0.55605	0.972;0.972	P;D	0.66497	0.766;0.944	T	0.00027	-1.2303	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	46;46	B2RNR6;Q96KR1	.;ZFR_HUMAN	R	46;24;46	ENSP00000265069:S46R	ENSP00000265069:S46R	S	-	3	2	ZFR	32455965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.690000	0.61731	2.873000	0.98535	0.563000	0.77884	AGC		0.398	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		Missense_Mutation	10	33	1	0	2.18e-05	2.36e-05	10	33				
ADAMTS12	81792	broad.mit.edu	37	5	33588885	33588885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:33588885G>T	ENST00000504830.1	-	18	3019	c.2684C>A	c.(2683-2685)tCg>tAg	p.S895*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.S810*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	895	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATGTCGCCGAGCATGCTTC	0.582										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2683-2685)TCG>TAG		ADAM metallopeptidase with thrombospondin type 1							74.0	67.0	69.0					5																	33588885		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588885G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2684C>A	5.37:g.33588885G>T	ENSP00000422554:p.Ser895*	HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.S810*	p.S895*	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2847	-			895			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.2684C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	42	9.483998	0.99184	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.98	5.98	0.97165	.	0.117810	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	895;810	.	ENSP00000344847:S810X	S	-	2	0	ADAMTS12	33624642	1.000000	0.71417	0.865000	0.33974	0.176000	0.22953	7.767000	0.85331	2.838000	0.97847	0.591000	0.81541	TCG		0.582	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		44	115	1	0	5.34e-22	6.99e-22	44	115				
NIPBL	25836	broad.mit.edu	37	5	37064663	37064663	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:37064663C>T	ENST00000282516.8	+	47	8583	c.8084C>T	c.(8083-8085)aCg>aTg	p.T2695M		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2695					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGACTCTACGGAGTTGGCA	0.393																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(8083-8085)ACG>ATG		delangin isoform A							112.0	108.0	109.0					5																	37064663		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064663C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8084C>T	5.37:g.37064663C>T	ENSP00000282516:p.Thr2695Met					NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	p.T2695M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8583	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2695					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8084C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503341	0.26949	.	.	ENSG00000164190	ENST00000282516	D	0.93426	-3.22	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000012	D	0.83792	0.5331	N	0.08118	0	0.80722	D	1	P	0.46220	0.874	B	0.26969	0.075	D	0.86577	0.1851	10	0.52906	T	0.07	-7.7062	19.8545	0.96752	0.0:1.0:0.0:0.0	.	2695	Q6KC79	NIPBL_HUMAN	M	2695	ENSP00000282516:T2695M	ENSP00000282516:T2695M	T	+	2	0	NIPBL	37100420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.027000	0.49697	2.695000	0.91970	0.563000	0.77884	ACG		0.393	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		107	240	0	0	0	0	107	240				
C5orf34	375444	broad.mit.edu	37	5	43502545	43502545	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:43502545C>A	ENST00000306862.2	-	6	1456	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	361										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GATTTGAAAACAGATCCATCC	0.308																																						uc003jnz.1		NA																	0				breast(1)	1						c.(1081-1083)GTT>TTT		hypothetical protein LOC375444							67.0	74.0	71.0					5																	43502545		2202	4297	6499	SO:0001583	missense	375444							g.chr5:43502545C>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1081G>T	5.37:g.43502545C>A	ENSP00000303490:p.Val361Phe						p.V361F	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			7	1398	-	Lung NSC(6;2.07e-05)		361						Missense_Mutation	SNP	ENST00000306862.2	37	c.1081G>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209594	0.58343	.	.	ENSG00000172244	ENST00000306862	T	0.58506	0.33	5.54	-1.55	0.08558	.	0.634806	0.16564	N	0.208929	T	0.45518	0.1346	L	0.56769	1.78	0.31278	N	0.69099	B	0.24426	0.103	B	0.26094	0.066	T	0.39563	-0.9608	10	0.45353	T	0.12	-2.4321	3.7094	0.08414	0.1072:0.2679:0.1062:0.5188	.	361	Q96MH7	CE034_HUMAN	F	361	ENSP00000303490:V361F	ENSP00000303490:V361F	V	-	1	0	C5orf34	43538302	0.169000	0.23002	0.992000	0.48379	0.974000	0.67602	-0.735000	0.04888	-0.225000	0.09913	-0.218000	0.12543	GTT		0.308	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		74	204	1	0	1.74e-33	2.47e-33	74	204				
PARP8	79668	broad.mit.edu	37	5	50128662	50128662	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:50128662A>G	ENST00000281631.5	+	23	2439	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	PARP8_ENST00000505554.1_Missense_Mutation_p.S740G|PARP8_ENST00000503750.2_Missense_Mutation_p.S719G|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S719G|PARP8_ENST00000514342.2_Missense_Mutation_p.S472G|PARP8_ENST00000505697.2_Missense_Mutation_p.S761G	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	761	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCAGCTTCAAGCAGTAAAAG	0.438																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(2281-2283)AGC>GGC		poly (ADP-ribose) polymerase family, member 8							160.0	135.0	143.0					5																	50128662		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50128662A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2281A>G	5.37:g.50128662A>G	ENSP00000281631:p.Ser761Gly					PARP8_uc011cpz.1_Missense_Mutation_p.S653G|PARP8_uc003joo.2_Missense_Mutation_p.S761G|PARP8_uc003jop.2_Missense_Mutation_p.S719G	p.S761G	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			24	2463	+		Lung NSC(810;0.0305)|Breast(144;0.222)	761			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2281A>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377363	0.42105	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.7	5.7	0.88788	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.044496	0.85682	D	0.000000	T	0.30665	0.0772	N	0.11560	0.145	0.41702	D	0.9894	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.19647	-1.0299	8	.	.	.	-14.036	10.0999	0.42497	0.8809:0.0:0.1191:0.0	.	653;719;761	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	G	761;719;472;761;719;740;472;472	.	.	S	+	1	0	PARP8	50164419	0.988000	0.35896	0.970000	0.41538	0.993000	0.82548	2.782000	0.47758	2.177000	0.69029	0.528000	0.53228	AGC		0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		30	8	0	0	0	0	30	8				
GPR98	84059	broad.mit.edu	37	5	89938711	89938711	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:89938711G>T	ENST00000405460.2	+	13	2502	c.2406G>T	c.(2404-2406)agG>agT	p.R802S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	802	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCGATCAAGGGGGTCCCTTG	0.403																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(2404-2406)AGG>AGT		G protein-coupled receptor 98 precursor							126.0	122.0	123.0					5																	89938711		1836	4087	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938711G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2406G>T	5.37:g.89938711G>T	ENSP00000384582:p.Arg802Ser					GPR98_uc003kjt.2_5'UTR	p.R802S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	13	2502	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	802			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2406G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.878279|3.878279	0.72294|0.72294	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.26518	.|1.73	5.16|5.16	3.37|3.37	0.38596|0.38596	.|Na-Ca exchanger/integrin-beta4 (1);	.|0.094523	.|0.64402	.|D	.|0.000001	T|T	0.29588|0.29588	0.0738|0.0738	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.53360	.|0.724	T|T	0.03240|0.03240	-1.1057|-1.1057	5|10	.|0.27082	.|T	.|0.32	.|.	7.1292|7.1292	0.25490|0.25490	0.3027:0.0:0.6973:0.0|0.3027:0.0:0.6973:0.0	.|.	.|802	.|Q8WXG9	.|GPR98_HUMAN	W|S	391|802	.|ENSP00000384582:R802S	.|ENSP00000296619:R802S	G|R	+|+	1|3	0|2	GPR98|GPR98	89974467|89974467	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.818000|0.818000	0.46254|0.46254	2.352000|2.352000	0.44080|0.44080	1.171000|1.171000	0.42768|0.42768	0.591000|0.591000	0.81541|0.81541	GGG|AGG		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		92	25	1	0	1.04e-46	1.55e-46	92	25				
CHSY3	337876	broad.mit.edu	37	5	129520379	129520379	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:129520379G>T	ENST00000305031.4	+	3	1902	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	515					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGCAGAGGACGGCTCATTGAC	0.468																																						uc003kvd.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1543-1545)CGG>CTG		chondroitin sulfate synthase 3							68.0	65.0	66.0					5																	129520379		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520379G>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1544G>T	5.37:g.129520379G>T	ENSP00000302629:p.Arg515Leu						p.R515L	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1544	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	515			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1544G>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089521	0.76756	.	.	ENSG00000198108	ENST00000305031	T	0.21031	2.03	4.38	4.38	0.52667	.	0.000000	0.52532	D	0.000064	T	0.51719	0.1691	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.57670	-0.7771	9	.	.	.	-6.1397	18.2607	0.90034	0.0:0.0:1.0:0.0	.	515	Q70JA7	CHSS3_HUMAN	L	515	ENSP00000302629:R515L	.	R	+	2	0	CHSY3	129548278	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.753000	0.85153	2.708000	0.92522	0.650000	0.86243	CGG		0.468	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		36	12	1	0	1.59e-26	2.16e-26	36	12				
PCDHGA3	56112	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:140723683C>G	ENST00000253812.6	+	1	83	c.83C>G	c.(82-84)tCc>tGc	p.S28C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(82-84)TCC>TGC		protocadherin gamma subfamily A, 3 isoform 1							118.0	131.0	127.0					5																	140723683		2095	4251	6346	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723683C>G	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.83C>G	5.37:g.140723683C>G	ENSP00000253812:p.Ser28Cys		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Translation_Start_Site|PCDHGA3_uc011dap.1_Missense_Mutation_p.S28C	p.S28C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	83	+			28					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.83C>G	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	5.276	0.236373	0.10023	.	.	ENSG00000254245	ENST00000253812	T	0.50548	0.74	5.54	-0.759	0.11045	Cadherin (2);	0.567920	0.12947	U	0.426118	T	0.39436	0.1078	M	0.65677	2.01	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.20767	0.031;0.014	T	0.33343	-0.9872	10	0.34782	T	0.22	.	4.0713	0.09884	0.1023:0.2634:0.4344:0.2	.	28;28	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	C	28	ENSP00000253812:S28C	ENSP00000253812:S28C	S	+	2	0	PCDHGA3	140703867	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-0.892000	0.04131	-0.388000	0.07797	0.655000	0.94253	TCC		0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		194	70	0	0	0	0	194	70				
FAT2	2196	broad.mit.edu	37	5	150924598	150924598	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:150924598C>T	ENST00000261800.5	-	9	6102	c.6090G>A	c.(6088-6090)cgG>cgA	p.R2030R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2030	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGCTCCCGGTCAAACG	0.512																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6088-6090)CGG>CGA		FAT tumor suppressor 2 precursor							103.0	104.0	104.0					5																	150924598		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924598C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6090G>A	5.37:g.150924598C>T						GM2A_uc011dcs.1_Intron	p.R2030R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6103	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2030			Extracellular (Potential).|Cadherin 17.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.6090G>A	CCDS4317.1																																																																																				0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		96	29	0	0	0	0	96	29				
CCNJL	79616	broad.mit.edu	37	5	159680601	159680601	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:159680601G>A	ENST00000393977.3	-	7	1377	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.H316H	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	364						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCTGAACGGTGGGCCTGCA	0.662																																						uc003lyb.1		NA																	0					0						c.(1090-1092)CAC>CAT		cyclin J-like							53.0	60.0	58.0					5																	159680601		2049	4189	6238	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680601G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1092C>T	5.37:g.159680601G>A						CCNJL_uc011dee.1_Silent_p.H316H|CCNJL_uc003lyc.1_RNA	p.H364H	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1344	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	364					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.1092C>T	CCDS4350.2																																																																																				0.662	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		51	18	0	0	0	0	51	18				
ATP10B	23120	broad.mit.edu	37	5	160115002	160115002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:160115002G>A	ENST00000327245.5	-	5	926	c.80C>T	c.(79-81)aCc>aTc	p.T27I	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	27					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGTGTGGTTTCCGATGG	0.547																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(79-81)ACC>ATC		ATPase, class V, type 10B							102.0	104.0	103.0					5																	160115002		2066	4225	6291	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160115002G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.80C>T	5.37:g.160115002G>A	ENSP00000313600:p.Thr27Ile					ATP10B_uc003lyp.2_Missense_Mutation_p.T27I|ATP10B_uc011deg.1_Missense_Mutation_p.T71I|ATP10B_uc003lyo.2_5'Flank	p.T27I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	927	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	27			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.80C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	4.921	0.171065	0.09391	.	.	ENSG00000118322	ENST00000327245	T	0.42513	0.97	5.26	2.27	0.28462	.	0.277859	0.29501	N	0.011976	T	0.29850	0.0746	L	0.34521	1.04	0.23649	N	0.997202	B;B;B	0.26876	0.136;0.162;0.001	B;B;B	0.27076	0.05;0.076;0.001	T	0.15636	-1.0430	9	.	.	.	.	10.9329	0.47228	0.1882:0.0:0.8118:0.0	.	71;27;27	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	I	27	ENSP00000313600:T27I	.	T	-	2	0	ATP10B	160047580	0.988000	0.35896	0.884000	0.34674	0.019000	0.09904	1.126000	0.31344	0.183000	0.20059	-0.373000	0.07131	ACC		0.547	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		63	29	0	0	0	0	63	29				
RNF44	22838	broad.mit.edu	37	5	175956289	175956289	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:175956289C>A	ENST00000274811.4	-	10	1760	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	RNF44_ENST00000537487.1_Splice_Site_p.K331N	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	412							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGTGTTACCTTCAACCACT	0.582																																						uc003mek.1		NA																	0					0						c.(1234-1236)AAG>AAT		ring finger protein 44							63.0	60.0	61.0					5																	175956289		2203	4300	6503	SO:0001630	splice_region_variant	22838						zinc ion binding	g.chr5:175956289C>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1236+1G>T	5.37:g.175956289C>A						RNF44_uc011dfo.1_Missense_Mutation_p.K320N|RNF44_uc003mel.1_Missense_Mutation_p.K101N	p.K412N	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1761	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	412			RING-type; atypical.		B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.1236G>T	CCDS4404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.360928|4.360928	0.82353|0.82353	.|.	.|.	ENSG00000146083|ENSG00000146083	ENST00000506378|ENST00000274811;ENST00000537487	.|T;T	.|0.42900	.|0.96;0.96	5.07|5.07	4.18|4.18	0.49190|0.49190	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52789|0.52789	0.1756|0.1756	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60160	.|0.987;0.967	.|D;P	.|0.67231	.|0.95;0.901	T|T	0.53613|0.53613	-0.8414|-0.8414	5|10	.|0.62326	.|D	.|0.03	-27.1143|-27.1143	13.776|13.776	0.63055|0.63055	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	.|101;412	.|Q6ZS76;Q7L0R7	.|.;RNF44_HUMAN	C|N	167|412;331	.|ENSP00000274811:K412N;ENSP00000440352:K331N	.|ENSP00000274811:K412N	G|K	-|-	1|3	0|2	RNF44|RNF44	175888895|175888895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	7.080000|7.080000	0.76837|0.76837	2.642000|2.642000	0.89623|0.89623	0.549000|0.549000	0.68633|0.68633	GGT|AAG		0.582	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2		Missense_Mutation	43	17	1	0	1.32e-16	1.65e-16	43	17				
EXOC2	55770	broad.mit.edu	37	6	617752	617752	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:617752C>G	ENST00000230449.4	-	6	755	c.620G>C	c.(619-621)gGc>gCc	p.G207A	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	207					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACTGAGACCGCCTTTCACATA	0.517																																						uc003mtd.2		NA																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(619-621)GGC>GCC		Sec5 protein							172.0	136.0	148.0					6																	617752		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:617752C>G	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.620G>C	6.37:g.617752C>G	ENSP00000230449:p.Gly207Ala					EXOC2_uc003mte.2_Missense_Mutation_p.G207A|EXOC2_uc011dho.1_Intron	p.G207A	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	6	754	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	207					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.620G>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264040	0.59431	.	.	ENSG00000112685	ENST00000230449	T	0.39592	1.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	L	0.27053	0.805	0.80722	D	1	P	0.48089	0.905	B	0.39152	0.292	T	0.02698	-1.1122	10	0.17369	T	0.5	-7.9245	19.8155	0.96566	0.0:1.0:0.0:0.0	.	207	Q96KP1	EXOC2_HUMAN	A	207	ENSP00000230449:G207A	ENSP00000230449:G207A	G	-	2	0	EXOC2	562752	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	7.487000	0.81328	2.682000	0.91365	0.650000	0.86243	GGC		0.517	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		65	63	0	0	0	0	65	63				
SYCP2L	221711	broad.mit.edu	37	6	10899058	10899058	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:10899058T>C	ENST00000283141.6	+	6	739	c.443T>C	c.(442-444)aTt>aCt	p.I148T	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	148						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTTGTTAGATTATTTCCAGG	0.289																																						uc003mzo.2		NA																	0				ovary(1)|skin(1)	2						c.(442-444)ATT>ACT		synaptonemal complex protein 2-like							113.0	108.0	109.0					6																	10899058		1797	4065	5862	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10899058T>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.442-1T>C	6.37:g.10899058T>C						SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.2_5'UTR	p.I148T	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		6	739	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	148					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.443T>C	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525111	0.44969	.	.	ENSG00000153157	ENST00000283141	T	0.18960	2.18	5.23	5.23	0.72850	.	0.240894	0.34959	N	0.003552	T	0.15869	0.0382	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.48189	0.57	T	0.01319	-1.1386	10	0.56958	D	0.05	-22.7528	12.4919	0.55905	0.0:0.0:0.0:1.0	.	148	Q5T4T6	SYC2L_HUMAN	T	148	ENSP00000283141:I148T	ENSP00000283141:I148T	I	+	2	0	SYCP2L	11007044	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.838000	0.55828	1.972000	0.57404	0.374000	0.22700	ATT		0.289	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Missense_Mutation	88	31	0	0	0	0	88	31				
LRRC16A	55604	broad.mit.edu	37	6	25420376	25420376	+	Missense_Mutation	SNP	C	C	T	rs369175501		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:25420376C>T	ENST00000329474.6	+	3	541	c.173C>T	c.(172-174)gCg>gTg	p.A58V	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	58					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTTGTAACAGCGCGAATCCCC	0.483																																						uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(172-174)GCG>GTG		leucine rich repeat containing 16A		C	VAL/ALA,VAL/ALA	0,4108		0,0,2054	191.0	178.0	182.0		173,173	4.4	0.4	6		182	2,8400		0,2,4199	no	missense,missense	LRRC16A	NM_001173977.1,NM_017640.5	64,64	0,2,6253	TT,TC,CC		0.0238,0.0,0.016	possibly-damaging,possibly-damaging	58/1366,58/1372	25420376	2,12508	2054	4201	6255	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25420376C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.173C>T	6.37:g.25420376C>T	ENSP00000331983:p.Ala58Val					LRRC16A_uc010jpx.2_Missense_Mutation_p.A58V|LRRC16A_uc010jpy.2_Missense_Mutation_p.A58V	p.A58V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			3	549	+			58					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.173C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833745	0.50951	0.0	2.38E-4	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17854	2.25	4.38	4.38	0.52667	.	0.082400	0.47455	D	0.000232	T	0.13713	0.0332	L	0.54323	1.7	0.80722	D	1	D;D;D	0.61080	0.989;0.971;0.987	P;P;P	0.50490	0.642;0.526;0.617	T	0.02933	-1.1092	10	0.26408	T	0.33	.	12.3158	0.54955	0.0:1.0:0.0:0.0	.	58;58;58	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	V	58	ENSP00000331983:A58V	ENSP00000331983:A58V	A	+	2	0	LRRC16A	25528355	0.942000	0.31987	0.421000	0.26609	0.927000	0.56198	3.801000	0.55545	2.246000	0.74042	0.655000	0.94253	GCG		0.483	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	234	0	0	0	0	8	234				
HIST1H1T	3010	broad.mit.edu	37	6	26107832	26107832	+	Missense_Mutation	SNP	C	C	G	rs148167379	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:26107832C>G	ENST00000338379.4	-	1	532	c.490G>C	c.(490-492)Gtt>Ctt	p.V164L		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	164					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCGCTCCTAACAGTTTTAGGA	0.483																																						uc003ngj.2		NA																	0				ovary(2)	2						c.(490-492)GTT>CTT		histone cluster 1, H1t							132.0	126.0	128.0					6																	26107832		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107832C>G	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.490G>C	6.37:g.26107832C>G	ENSP00000341214:p.Val164Leu						p.V164L	NM_005323	NP_005314	P22492	H1T_HUMAN			1	533	-			164					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.490G>C	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.989588	0.35131	.	.	ENSG00000187475	ENST00000338379	T	0.04406	3.63	4.98	-0.399	0.12415	.	0.697123	0.12975	N	0.423834	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45086	-0.9285	10	0.17832	T	0.49	0.0098	4.3425	0.11117	0.24:0.447:0.24:0.073	.	164	P22492	H1T_HUMAN	L	164	ENSP00000341214:V164L	ENSP00000341214:V164L	V	-	1	0	HIST1H1T	26215811	0.022000	0.18835	0.000000	0.03702	0.020000	0.10135	0.878000	0.28126	-0.277000	0.09193	0.655000	0.94253	GTT		0.483	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		155	229	0	0	0	0	155	229				
TRIM27	5987	broad.mit.edu	37	6	28876602	28876602	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:28876602T>A	ENST00000377199.3	-	6	1258	c.902A>T	c.(901-903)gAt>gTt	p.D301V	TRIM27_ENST00000377194.3_Missense_Mutation_p.D301V|TRIM27_ENST00000498117.1_5'Flank	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTCTCCATATCTGACTGCAT	0.368			T	RET	papillary thyroid																																	uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(901-903)GAT>GTT		ret finger protein							74.0	75.0	75.0					6																	28876602		2203	4299	6502	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28876602T>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.902A>T	6.37:g.28876602T>A	ENSP00000366404:p.Asp301Val					TRIM27_uc003nls.2_Missense_Mutation_p.D301V|TRIM27_uc003nlt.1_Missense_Mutation_p.D301V	p.D301V	NM_006510	NP_006501	P14373	TRI27_HUMAN			6	1261	-			301			Potential.|B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.902A>T	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.05|14.05	2.419539|2.419539	0.42918|0.42918	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000377199;ENST00000377194|ENST00000414543	T;T|.	0.62105|.	0.56;0.05|.	4.47|4.47	4.47|4.47	0.54385|0.54385	B30.2/SPRY domain (1);|.	0.000000|.	0.56097|.	D|.	0.000029|.	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999967|0.999967	D;B;B|.	0.59357|.	0.985;0.144;0.001|.	P;B;B|.	0.52823|.	0.71;0.02;0.001|.	T|T	0.07751|0.07751	-1.0756|-1.0756	10|5	0.56958|.	D|.	0.05|.	.|.	10.4452|10.4452	0.44490|0.44490	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	368;301;301|.	Q59EC6;P14373-2;P14373|.	.;.;TRI27_HUMAN|.	V|S	301|11	ENSP00000366404:D301V;ENSP00000366399:D301V|.	ENSP00000366399:D301V|.	D|R	-|-	2|3	0|2	TRIM27|TRIM27	28984581|28984581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.820000|2.820000	0.48057|0.48057	2.241000|2.241000	0.73720|0.73720	0.533000|0.533000	0.62120|0.62120	GAT|AGA		0.368	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		24	10	0	0	0	0	24	10				
ZBTB22	9278	broad.mit.edu	37	6	33283758	33283758	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33283758C>A	ENST00000431845.2	-	2	1087	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ZBTB22_ENST00000418724.1_Silent_p.L312L|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	312					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTTGGGGAACCAGGGGTGTTG	0.567																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(934-936)CTG>CTT		zinc finger and BTB domain containing 22							104.0	88.0	93.0					6																	33283758		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283758C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.936G>T	6.37:g.33283758C>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L312L	p.L312L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1088	-			312					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.936G>T	CCDS4775.1																																																																																				0.567	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			48	104	1	0	7.77e-23	1.03e-22	48	104				
DNAH8	1769	broad.mit.edu	37	6	38840416	38840416	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:38840416C>T	ENST00000359357.3	+	48	6698	c.6444C>T	c.(6442-6444)tgC>tgT	p.C2148C	DNAH8_ENST00000449981.2_Silent_p.C2365C|DNAH8_ENST00000441566.1_Silent_p.C2112C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2148	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGAATGCGGAAGGCCTC	0.483																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6442-6444)TGC>TGT		dynein, axonemal, heavy polypeptide 8							112.0	106.0	108.0					6																	38840416		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38840416C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6444C>T	6.37:g.38840416C>T							p.C2148C	NM_001371	NP_001362					48	7044	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6444C>T																																																																																					0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		66	106	0	0	0	0	66	106				
KCNK17	89822	broad.mit.edu	37	6	39272355	39272355	+	Silent	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:39272355G>C	ENST00000373231.4	-	3	661	c.429C>G	c.(427-429)ctC>ctG	p.L143L	KCNK17_ENST00000453413.2_Silent_p.L143L	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCACGAGGTTGAGTGGGATCC	0.637																																						uc003ooo.2		NA																	0				skin(2)	2						c.(427-429)CTC>CTG		potassium channel, subfamily K, member 17							142.0	142.0	142.0					6																	39272355		2203	4300	6503	SO:0001819	synonymous_variant	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272355G>C	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.429C>G	6.37:g.39272355G>C						KCNK17_uc003oop.2_Silent_p.L143L	p.L143L	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			3	569	-			143			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Silent	SNP	ENST00000373231.4	37	c.429C>G	CCDS4842.1																																																																																				0.637	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		91	172	0	0	0	0	91	172				
UBR2	23304	broad.mit.edu	37	6	42637959	42637959	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:42637959G>T	ENST00000372899.1	+	35	4269	c.4011G>T	c.(4009-4011)gcG>gcT	p.A1337A	UBR2_ENST00000372901.1_Silent_p.A1337A|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1337					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTAGCTGCGCGTACACCATCC	0.408																																						uc011dur.1		NA																	0				ovary(3)|pancreas(1)	4						c.(4009-4011)GCG>GCT		ubiquitin protein ligase E3 component n-recognin							134.0	115.0	122.0					6																	42637959		2203	4300	6503	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42637959G>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4011G>T	6.37:g.42637959G>T						UBR2_uc011dus.1_Silent_p.A982A|UBR2_uc003osh.2_RNA	p.A1337A	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		35	4011	+	Colorectal(47;0.196)		1337					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.4011G>T	CCDS4870.1																																																																																				0.408	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		69	91	1	0	2.27e-38	3.28e-38	69	91				
PKHD1	5314	broad.mit.edu	37	6	51890864	51890864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:51890864C>T	ENST00000371117.3	-	32	4019	c.3744G>A	c.(3742-3744)tgG>tgA	p.W1248*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W1248*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1248	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTTTCACACCAGATGCTCG	0.597																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3742-3744)TGG>TGA		fibrocystin isoform 1							52.0	54.0	53.0					6																	51890864		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890864C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3744G>A	6.37:g.51890864C>T	ENSP00000360158:p.Trp1248*					PKHD1_uc003pai.2_Nonsense_Mutation_p.W1248*	p.W1248*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4020	-	Lung NSC(77;0.0605)		1248			Extracellular (Potential).|IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.3744G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	41	8.849060	0.98976	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.87	0.556	0.17253	.	1.148290	0.06064	N	0.658902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.0165	0.42018	0.256:0.3715:0.3725:0.0	.	.	.	.	X	1248	.	ENSP00000341097:W1248X	W	-	3	0	PKHD1	51998823	0.263000	0.24083	0.457000	0.27056	0.003000	0.03518	0.397000	0.20883	-0.186000	0.10533	-0.182000	0.12963	TGG		0.597	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		44	57	0	0	0	0	44	57				
GSTA3	2940	broad.mit.edu	37	6	52762651	52762651	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:52762651C>T	ENST00000211122.3	-	6	583	c.518G>A	c.(517-519)aGc>aAc	p.S173N	GSTA3_ENST00000370968.1_Missense_Mutation_p.S123N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	173	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GGAGATAAGGCTGGAGTCAAG	0.522																																						uc003pbb.2		NA																	0					0						c.(517-519)AGC>AAC		glutathione S-transferase alpha 3	Glutathione(DB00143)						161.0	145.0	150.0					6																	52762651		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52762651C>T	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.518G>A	6.37:g.52762651C>T	ENSP00000211122:p.Ser173Asn					GSTA3_uc010jzq.2_Missense_Mutation_p.S117N	p.S173N	NM_000847	NP_000838	Q16772	GSTA3_HUMAN			6	597	-	Lung NSC(77;0.0912)		173			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.518G>A	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888169	0.33348	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.14022	4.54;4.54;2.54	3.91	2.1	0.27182	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.387331	0.28641	N	0.014621	T	0.03827	0.0108	L	0.55743	1.74	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34030	-0.9845	10	0.31617	T	0.26	.	4.5001	0.11860	0.0:0.5285:0.0:0.4715	.	173	Q16772	GSTA3_HUMAN	N	123;173;105	ENSP00000360007:S123N;ENSP00000211122:S173N;ENSP00000399142:S105N	ENSP00000211122:S173N	S	-	2	0	GSTA3	52870610	0.000000	0.05858	0.286000	0.24833	0.050000	0.14768	-0.043000	0.12043	0.991000	0.38814	-0.136000	0.14681	AGC		0.522	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			77	128	0	0	0	0	77	128				
GFRAL	389400	broad.mit.edu	37	6	55216213	55216213	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55216213T>A	ENST00000340465.2	+	5	619	c.533T>A	c.(532-534)aTa>aAa	p.I178K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	178					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TATCAAAATATACCTTTTAAC	0.428																																						uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(532-534)ATA>AAA		GDNF family receptor alpha like precursor							209.0	197.0	201.0					6																	55216213		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216213T>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.533T>A	6.37:g.55216213T>A	ENSP00000343636:p.Ile178Lys						p.I178K	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	619	+	Lung NSC(77;0.0875)|Renal(3;0.122)		178			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.533T>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309753	0.60414	.	.	ENSG00000187871	ENST00000340465	T	0.63580	-0.05	5.75	3.37	0.38596	GDNF/GAS1 (2);	0.280824	0.41938	D	0.000793	T	0.31606	0.0802	N	0.19112	0.55	0.34424	D	0.697782	P	0.40731	0.728	B	0.42959	0.403	T	0.13124	-1.0521	10	0.37606	T	0.19	-0.021	10.3392	0.43868	0.0:0.1331:0.0:0.8669	.	178	Q6UXV0	GFRAL_HUMAN	K	178	ENSP00000343636:I178K	ENSP00000343636:I178K	I	+	2	0	GFRAL	55324172	1.000000	0.71417	0.586000	0.28679	0.968000	0.65278	1.850000	0.39328	0.533000	0.28675	-0.263000	0.10527	ATA		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		164	222	0	0	0	0	164	222				
HMGCLL1	54511	broad.mit.edu	37	6	55441888	55441888	+	Silent	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55441888A>C	ENST00000398661.2	-	2	317	c.186T>G	c.(184-186)gcT>gcG	p.A62A	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000358072.5_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	62					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			agtggatacaagccaccgtgc	0.438																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(184-186)GCT>GCG		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							47.0	50.0	49.0					6																	55441888		1925	4141	6066	SO:0001819	synonymous_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55441888A>C	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.186T>G	6.37:g.55441888A>C						HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	p.A62A	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	345	-	Lung NSC(77;0.0875)		62					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	c.186T>G	CCDS43475.1																																																																																				0.438	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		14	21	0	0	0	0	14	21				
PHIP	55023	broad.mit.edu	37	6	79679576	79679576	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:79679576C>A	ENST00000275034.4	-	27	3348	c.3181G>T	c.(3181-3183)Gca>Tca	p.A1061S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1061	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGTATTTTGCATCATCAAAT	0.308																																						uc003pir.2		NA																	0				large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(3181-3183)GCA>TCA		pleckstrin homology domain interacting protein							124.0	111.0	115.0					6																	79679576		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79679576C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3181G>T	6.37:g.79679576C>A	ENSP00000275034:p.Ala1061Ser					PHIP_uc003piq.2_Missense_Mutation_p.A85S|PHIP_uc011dyp.1_Missense_Mutation_p.A1060S	p.A1061S	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	27	3407	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1061			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3181G>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673502	0.67928	.	.	ENSG00000146247	ENST00000275034	T	0.48522	0.81	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.51312	0.1667	L	0.37466	1.105	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.41342	-0.9514	9	.	.	.	-16.4995	18.4458	0.90683	0.0:1.0:0.0:0.0	.	1061;1061	A7J992;Q8WWQ0	.;PHIP_HUMAN	S	1061	ENSP00000275034:A1061S	.	A	-	1	0	PHIP	79736295	1.000000	0.71417	0.954000	0.39281	0.885000	0.51271	7.487000	0.81328	2.613000	0.88420	0.650000	0.86243	GCA		0.308	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			21	37	1	0	3.1e-05	3.35e-05	21	37				
SNX14	57231	broad.mit.edu	37	6	86235871	86235871	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:86235871C>T	ENST00000314673.3	-	21	2256	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.D641N|SNX14_ENST00000505648.1_Missense_Mutation_p.D642N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.D685N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	694					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGTATCTTATCAAGAAATTGT	0.323																																						uc003pkr.2		NA																	0					0						c.(2080-2082)GAT>AAT		sorting nexin 14 isoform a							35.0	35.0	35.0					6																	86235871		2202	4299	6501	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86235871C>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2080G>A	6.37:g.86235871C>T	ENSP00000313121:p.Asp694Asn					SNX14_uc003pkp.2_Missense_Mutation_p.D557N|SNX14_uc003pkq.2_Missense_Mutation_p.D300N|SNX14_uc011dzg.1_Missense_Mutation_p.D642N|SNX14_uc003pks.2_Missense_Mutation_p.D641N|SNX14_uc003pkt.2_Missense_Mutation_p.D685N	p.D694N	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	21	2273	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	694					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2080G>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582656	0.65992	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T	0.25749	1.81;1.78;1.78;1.78;1.83	5.01	5.01	0.66863	Phox homologous domain (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.51653	0.947;0.669;0.765;0.849	P;B;B;P	0.49421	0.61;0.376;0.267;0.455	T	0.01276	-1.1398	10	0.26408	T	0.33	-10.8344	18.3305	0.90267	0.0:1.0:0.0:0.0	.	685;641;694;642	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	N	641;151;694;642;685;612;59	ENSP00000257769:D641N;ENSP00000313121:D694N;ENSP00000427380:D642N;ENSP00000358641:D685N;ENSP00000425630:D612N	ENSP00000313121:D694N	D	-	1	0	SNX14	86292590	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.255000	0.78338	2.317000	0.78254	0.655000	0.94253	GAT		0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		12	24	0	0	0	0	12	24				
ZNF292	23036	broad.mit.edu	37	6	87928449	87928449	+	Splice_Site	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:87928449G>C	ENST00000369577.3	+	4	581	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	ZNF292_ENST00000339907.4_Splice_Site_p.A180P|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	180						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAGGATAAAGGTAAATTTTC	0.328																																						uc003plm.3		NA																	0				ovary(4)	4						c.(538-540)GTG>CTG		zinc finger protein 292							33.0	32.0	32.0					6																	87928449		1803	4065	5868	SO:0001630	splice_region_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87928449G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.538+1G>C	6.37:g.87928449G>C						ZNF292_uc003pll.1_Missense_Mutation_p.G180R	p.V180L	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	4	579	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	180					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.538G>C	CCDS47457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.630534|4.630534	0.87660|0.87660	.|.	.|.	ENSG00000188994|ENSG00000188994	ENST00000339907|ENST00000369577	T|T	0.08193|0.17691	3.12|2.26	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.239675|.	0.43919|.	D|.	0.000502|.	T|T	0.36413|0.36413	0.0966|0.0966	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.29882|0.29882	-0.9997|-0.9997	8|9	0.66056|0.87932	D|D	0.02|0	.|.	18.444|18.444	0.90677|0.90677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|180	.|O60281	.|ZN292_HUMAN	P|L	180|180	ENSP00000342847:A180P|ENSP00000358590:V180L	ENSP00000342847:A180P|ENSP00000358590:V180L	A|V	+|+	1|1	0|0	ZNF292|ZNF292	87985168|87985168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.897000|7.897000	0.87356|0.87356	2.352000|2.352000	0.79861|0.79861	0.455000|0.455000	0.32223|0.32223	GCT|GTG		0.328	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	Missense_Mutation	6	8	0	0	0	0	6	8				
GJA10	84694	broad.mit.edu	37	6	90604608	90604608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:90604608C>T	ENST00000369352.1	+	1	421	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	142					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)		GTTAGAGGAGCAGAAGAGGAT	0.463																																						uc011eaa.1		NA																	0					0						c.(421-423)CAG>TAG		gap junction protein, alpha 10							97.0	95.0	96.0					6																	90604608		2203	4300	6503	SO:0001587	stop_gained	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604608C>T	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.421C>T	6.37:g.90604608C>T	ENSP00000358358:p.Gln141*						p.Q141*	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	421	+		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)	141			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	SNP	ENST00000369352.1	37	c.421C>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543211	0.86022	.	.	ENSG00000135355	ENST00000369352	.	.	.	4.91	4.04	0.47022	.	0.713309	0.12853	N	0.433743	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	15.4206	0.75009	0.0:0.8606:0.1394:0.0	.	.	.	.	X	141	.	ENSP00000358358:Q141X	Q	+	1	0	GJA10	90661329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.846000	0.69444	1.295000	0.44724	0.563000	0.77884	CAG		0.463	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		49	72	0	0	0	0	49	72				
LIN28B	389421	broad.mit.edu	37	6	105406115	105406115	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:105406115G>A	ENST00000345080.4	+	2	355	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	51	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGATAAACCGAGAGGGAAGC	0.498																																						uc003pqv.1		NA																	0					0						c.(151-153)CGA>CAA		lin-28 homolog B							97.0	101.0	100.0					6																	105406115		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406115G>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.152G>A	6.37:g.105406115G>A	ENSP00000344401:p.Arg51Gln					LIN28B_uc010kda.1_Missense_Mutation_p.R11Q	p.R51Q	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			2	355	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	51			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.152G>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229830	0.95173	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.051409	0.85682	D	0.000000	T	0.59088	0.2168	L	0.37630	1.12	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.58013	0.73;0.831	T	0.61618	-0.7026	9	0.66056	D	0.02	-10.2454	20.0044	0.97430	0.0:0.0:1.0:0.0	.	28;51	A7E2T3;Q6ZN17	.;LN28B_HUMAN	Q	51	.	ENSP00000344401:R51Q	R	+	2	0	LIN28B	105512808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	CGA		0.498	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		99	154	0	0	0	0	99	154				
DDO	8528	broad.mit.edu	37	6	110714170	110714170	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:110714170C>T	ENST00000368924.3	-	5	933	c.918G>A	c.(916-918)agG>agA	p.R306R	DDO_ENST00000368923.3_Silent_p.R247R	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	278					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GCCTGTAGGGCCTCAAGCCCA	0.607																																						uc003puc.2		NA																	0				ovary(2)|breast(1)	3						c.(916-918)AGG>AGA		D-aspartate oxidase isoform a							127.0	122.0	123.0					6																	110714170		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714170C>T	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.918G>A	6.37:g.110714170C>T						C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.R247R	p.R306R	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	922	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	278	R -> S (in Ref. 2; BAF85718).			Substrate (By similarity).	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.918G>A	CCDS5082.1																																																																																				0.607	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			138	221	0	0	0	0	138	221				
LAMA4	3910	broad.mit.edu	37	6	112443312	112443312	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:112443312G>A	ENST00000230538.7	-	32	4777	c.4380C>T	c.(4378-4380)tcC>tcT	p.S1460S	LAMA4_ENST00000424408.2_Silent_p.S1453S|LAMA4_ENST00000522006.1_Silent_p.S1453S|LAMA4_ENST00000389463.4_Silent_p.S1453S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1460					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGGGCTGTTGGAAAGGTGGC	0.453																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4378-4380)TCC>TCT		laminin, alpha 4 isoform 1 precursor							168.0	158.0	161.0					6																	112443312		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112443312G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4380C>T	6.37:g.112443312G>A						LAMA4_uc003pvv.2_Silent_p.S1453S|LAMA4_uc003pvt.2_Silent_p.S1453S	p.S1460S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	32	4689	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1460					Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.4380C>T	CCDS43491.1																																																																																				0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		80	115	0	0	0	0	80	115				
FAM184A	79632	broad.mit.edu	37	6	119338048	119338048	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:119338048T>C	ENST00000338891.7	-	5	1837	c.1394A>G	c.(1393-1395)cAa>cGa	p.Q465R	FAM184A_ENST00000522284.1_Missense_Mutation_p.Q345R|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q465R|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q345R|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q345R|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	465						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAATCTACTTTGCAGGTTTTT	0.373																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1393-1395)CAA>CGA		hypothetical protein LOC79632 isoform 1							123.0	118.0	119.0					6																	119338048		1810	4070	5880	SO:0001583	missense	79632							g.chr6:119338048T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1394A>G	6.37:g.119338048T>C	ENSP00000342604:p.Gln465Arg					FAM184A_uc003pyk.3_Missense_Mutation_p.Q345R|FAM184A_uc003pyl.3_Missense_Mutation_p.Q345R	p.Q465R	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			5	1742	-			465			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1394A>G	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.086|5.086	0.201474|0.201474	0.09652|0.09652	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000448815|ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.|T;T;T;T;T	.|0.00274	.|8.35;8.35;8.35;8.35;8.35	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.057497	.|0.64402	.|D	.|0.000002	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.21097|0.21097	0.63|0.63	0.34787|0.34787	D|D	0.7353|0.7353	.|B;B;B	.|0.17268	.|0.01;0.021;0.013	.|B;B;B	.|0.17433	.|0.013;0.016;0.018	T|T	0.00883|0.00883	-1.1528|-1.1528	5|10	.|0.07325	.|T	.|0.83	-14.244|-14.244	9.5503|9.5503	0.39306|0.39306	0.0:0.0792:0.0:0.9208|0.0:0.0792:0.0:0.9208	.|.	.|465;345;465	.|Q8NB25-2;F8W8D6;Q8NB25	.|.;.;F184A_HUMAN	E|R	51|465;345;345;465;345	.|ENSP00000342604:Q465R;ENSP00000326608:Q345R;ENSP00000357460:Q345R;ENSP00000430442:Q465R;ENSP00000429826:Q345R	.|ENSP00000342604:Q465R	K|Q	-|-	1|2	0|0	FAM184A|FAM184A	119379747|119379747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	2.645000|2.645000	0.46621|0.46621	1.969000|1.969000	0.57287|0.57287	0.402000|0.402000	0.26972|0.26972	AAA|CAA		0.373	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		54	81	0	0	0	0	54	81				
THEMIS	387357	broad.mit.edu	37	6	128040968	128040968	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:128040968G>T	ENST00000368248.2	-	5	1907	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S	THEMIS_ENST00000537166.1_Splice_Site_p.R552S|THEMIS_ENST00000543064.1_Splice_Site_p.R626S|THEMIS_ENST00000368250.1_Splice_Site_p.R508S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	587					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACGTGATGACGCTGAAATGAC	0.368																																						uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(1759-1761)CGT>AGT		thymocyte selection pathway associated isoform							150.0	134.0	139.0					6																	128040968		2203	4300	6503	SO:0001630	splice_region_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128040968G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1759-1C>A	6.37:g.128040968G>T						THEMIS_uc010kfa.2_Missense_Mutation_p.R490S|THEMIS_uc011ebt.1_Missense_Mutation_p.R626S|THEMIS_uc010kfb.2_Missense_Mutation_p.R552S	p.R587S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			6	2078	-			587					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1759C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.297013	0.23650	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14766	2.51;2.48;2.51;2.51	6.05	4.9	0.64082	.	0.735547	0.13681	N	0.370165	T	0.00815	0.0027	N	0.00347	-1.61	0.28839	N	0.896702	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44360	-0.9333	10	0.05620	T	0.96	-0.7754	10.3335	0.43837	0.0:0.0:0.174:0.826	.	626;587	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	508;626;587;552	ENSP00000357233:R508S;ENSP00000439594:R626S;ENSP00000357231:R587S;ENSP00000439863:R552S	ENSP00000357231:R587S	R	-	1	0	THEMIS	128082661	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.941000	0.49011	1.112000	0.41740	-0.271000	0.10264	CGT		0.368	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	Missense_Mutation	74	81	1	0	2.51e-31	3.51e-31	74	81				
LAMA2	3908	broad.mit.edu	37	6	129775417	129775417	+	Missense_Mutation	SNP	C	C	A	rs374815503		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:129775417C>A	ENST00000421865.2	+	47	6740	c.6691C>A	c.(6691-6693)Cgt>Agt	p.R2231S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2231	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATTGGTACCGTATCGTAGC	0.363																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(6691-6693)CGT>AGT		laminin alpha 2 subunit isoform a precursor							122.0	101.0	108.0					6																	129775417		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129775417C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6691C>A	6.37:g.129775417C>A	ENSP00000400365:p.Arg2231Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.R2231S	p.R2231S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	46	6796	+			2231			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6691C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444236	0.43429	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.41400	1.0	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.39147	1.195	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13845	-1.0494	10	0.21540	T	0.41	.	14.744	0.69477	0.1446:0.8554:0.0:0.0	.	2232;2231	A6NF00;P24043	.;LAMA2_HUMAN	S	2231;2230;2231;249	ENSP00000400365:R2231S	ENSP00000346769:R2230S	R	+	1	0	LAMA2	129817110	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	1.795000	0.38784	2.721000	0.93114	0.650000	0.86243	CGT		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			47	46	1	0	2.82e-22	3.7e-22	47	46				
SAMD3	154075	broad.mit.edu	37	6	130465774	130465774	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130465774G>T	ENST00000368134.2	-	14	2062	c.1454C>A	c.(1453-1455)tCc>tAc	p.S485Y	RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000437477.2_Missense_Mutation_p.S485Y|SAMD3_ENST00000457563.2_Missense_Mutation_p.S509Y|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000439090.2_Missense_Mutation_p.S485Y	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	485										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GAAAGTTTGGGACAGTCTTCT	0.438																																						uc003qbv.2		NA																	0				ovary(1)	1						c.(1453-1455)TCC>TAC		sterile alpha motif domain containing 3 isoform							104.0	97.0	100.0					6																	130465774		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130465774G>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1454C>A	6.37:g.130465774G>T	ENSP00000357116:p.Ser485Tyr					SAMD3_uc003qbx.2_Missense_Mutation_p.S485Y|SAMD3_uc003qbw.2_Missense_Mutation_p.S485Y	p.S485Y	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	13	1780	-			485					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1454C>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654915	0.29425	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.46451	0.88;0.87;0.88;0.88	5.29	3.17	0.36434	.	0.599517	0.16027	N	0.233048	T	0.19565	0.0470	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13791	-1.0496	10	0.59425	D	0.04	.	6.8301	0.23905	0.0:0.146:0.5672:0.2868	.	485	Q8N6K7	SAMD3_HUMAN	Y	485;509;485;485	ENSP00000357116:S485Y;ENSP00000402092:S509Y;ENSP00000403565:S485Y;ENSP00000391163:S485Y	ENSP00000357116:S485Y	S	-	2	0	SAMD3	130507467	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	3.111000	0.50360	1.339000	0.45563	0.563000	0.77884	TCC		0.438	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		63	100	1	0	7.56e-43	1.11e-42	63	100				
TMEM200A	114801	broad.mit.edu	37	6	130762115	130762115	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130762115G>T	ENST00000296978.3	+	3	1419	c.548G>T	c.(547-549)gGc>gTc	p.G183V	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G183V|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G183V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	183						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATGAACGGCATGTACACT	0.443																																						uc003qca.2		NA																	0				ovary(1)	1						c.(547-549)GGC>GTC		transmembrane protein 200A							99.0	90.0	93.0					6																	130762115		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762115G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.548G>T	6.37:g.130762115G>T	ENSP00000296978:p.Gly183Val					TMEM200A_uc010kfh.2_Missense_Mutation_p.G183V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G183V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G183V	p.G183V	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1419	+			183			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.548G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193731	0.58017	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.176217	0.49916	D	0.000134	T	0.64886	0.2639	M	0.61703	1.905	0.80722	D	1	D	0.58268	0.982	P	0.50708	0.648	T	0.69599	-0.5102	9	0.87932	D	0	.	19.6178	0.95640	0.0:0.0:1.0:0.0	.	183	Q86VY9	T200A_HUMAN	V	183	.	ENSP00000296978:G183V	G	+	2	0	TMEM200A	130803808	1.000000	0.71417	0.975000	0.42487	0.917000	0.54804	9.522000	0.98032	2.634000	0.89283	0.655000	0.94253	GGC		0.443	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		49	62	1	0	4.11e-27	5.62e-27	49	62				
TXLNB	167838	broad.mit.edu	37	6	139576740	139576740	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:139576740C>T	ENST00000358430.3	-	7	1270	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	346						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAGCACTTTCGCCTGAAGTT	0.512																																						uc011eds.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1036-1038)GCG>GCA		taxilin beta							103.0	84.0	90.0					6																	139576740		2203	4300	6503	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139576740C>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1038G>A	6.37:g.139576740C>T							p.A346A	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	7	1203	-			346			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.1038G>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005711	0.19199	.	.	ENSG00000164440	ENST00000367652	.	.	.	5.73	-0.432	0.12291	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	-8.0655	0.7364	0.00966	0.2451:0.2127:0.33:0.2121	.	.	.	.	K	59	.	.	E	-	1	0	TXLNB	139618433	0.952000	0.32445	0.998000	0.56505	0.710000	0.40934	0.133000	0.15912	0.166000	0.19597	-0.763000	0.03452	GAA		0.512	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		61	80	0	0	0	0	61	80				
UTRN	7402	broad.mit.edu	37	6	144843114	144843114	+	Splice_Site	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:144843114A>G	ENST00000367545.3	+	39	5541		c.e39-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						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)		CTGTTTTTGTAGGCAATCCCT	0.289																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.e39-2		utrophin							75.0	79.0	77.0					6																	144843114		2203	4299	6502	SO:0001630	splice_region_variant	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.chr6:144843114A>G	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.5542-1A>G	6.37:g.144843114A>G							p.A1848_splice	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)	39	5634	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.5542_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608846	0.46527	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6316	0.76912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	144884807	0.998000	0.40836	0.143000	0.22291	0.027000	0.11550	4.565000	0.60836	2.096000	0.63516	0.459000	0.35465	.		0.289	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	3	150	0	0	0	0	3	150				
MYCT1	80177	broad.mit.edu	37	6	153043144	153043144	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:153043144C>G	ENST00000367245.5	+	2	472	c.464C>G	c.(463-465)tCc>tGc	p.S155C	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	155						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAAGCAAATTCCTTTCCAAGA	0.498																																						uc003qpd.3		NA																	0				ovary(1)	1						c.(463-465)TCC>TGC		myc target 1							98.0	99.0	98.0					6																	153043144		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043144C>G	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.464C>G	6.37:g.153043144C>G	ENSP00000356214:p.Ser155Cys					MYCT1_uc010kjc.1_Missense_Mutation_p.S107C|MYCT1_uc003qpc.3_Missense_Mutation_p.S155C	p.S155C	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	472	+		Ovarian(120;0.0654)	155					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.464C>G	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.510582|4.510582	0.85389|0.85389	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245	.|T	.|0.34859	.|1.34	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.176748	.|0.52532	.|D	.|0.000077	T|T	0.53948|0.53948	0.1828|0.1828	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.98;0.998	T|T	0.52548|0.52548	-0.8561|-0.8561	5|10	.|0.51188	.|T	.|0.08	-23.9874|-23.9874	19.4841|19.4841	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|107;155	.|D6Q1S4;Q8N699	.|.;MYCT1_HUMAN	A|C	136|155	.|ENSP00000356214:S155C	.|ENSP00000356214:S155C	P|S	+|+	1|2	0|0	MYCT1|MYCT1	153084837|153084837	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.360000|6.360000	0.73064|0.73064	2.612000|2.612000	0.88384|0.88384	0.579000|0.579000	0.79373|0.79373	CCT|TCC		0.498	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		76	121	0	0	0	0	76	121				
TMEM181	57583	broad.mit.edu	37	6	159052421	159052421	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:159052421G>T	ENST00000367090.3	+	16	1771	c.1760G>T	c.(1759-1761)gGg>gTg	p.G587V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	587					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GTGATTTATGGGTAAGTCCCT	0.468																																						uc003qrm.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1759-1761)GGG>GTG		G protein-coupled receptor 178							152.0	143.0	146.0					6																	159052421		1997	4163	6160	SO:0001630	splice_region_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159052421G>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1760+1G>T	6.37:g.159052421G>T							p.G587V	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	16	1771	+		Breast(66;0.000776)|Ovarian(120;0.0303)	587					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1760G>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721448	0.89298	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	6.16	6.16	0.99307	.	0.048193	0.85682	D	0.000000	T	0.72053	0.3413	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.71912	-0.4449	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	587	Q9P2C4	TM181_HUMAN	V	494;587	.	ENSP00000323755:G494V	G	+	2	0	TMEM181	158972409	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	9.648000	0.98483	2.937000	0.99478	0.650000	0.86243	GGG		0.468	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823	Missense_Mutation	81	127	1	0	1.33e-51	2e-51	81	127				
PLG	5340	broad.mit.edu	37	6	161173182	161173182	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:161173182C>A	ENST00000308192.9	+	18	2224	c.2161C>A	c.(2161-2163)Ctc>Atc	p.L721I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	721	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAAGCCCAGCTCCCTGTGAT	0.468																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(2161-2163)CTC>ATC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						58.0	58.0	58.0					6																	161173182		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173182C>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2161C>A	6.37:g.161173182C>A	ENSP00000308938:p.Leu721Ile						p.L721I	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2224	+			721			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2161C>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	9.820	1.185630	0.21870	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.88818	-2.43	3.38	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.240307	0.21155	U	0.079245	T	0.76054	0.3934	N	0.20807	0.61	0.30554	N	0.765186	B	0.28378	0.209	P	0.47118	0.538	T	0.69068	-0.5243	10	0.54805	T	0.06	.	2.9504	0.05860	0.2051:0.4973:0.0:0.2976	.	721	P00747	PLMN_HUMAN	I	721;121	ENSP00000308938:L721I	ENSP00000308938:L721I	L	+	1	0	PLG	161093172	1.000000	0.71417	0.858000	0.33744	0.383000	0.30230	2.725000	0.47294	0.515000	0.28320	0.411000	0.27672	CTC		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		49	65	1	0	5.73e-26	7.77e-26	49	65				
PDE10A	10846	broad.mit.edu	37	6	165832247	165832247	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:165832247C>A	ENST00000366882.1	-	12	998	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L	PDE10A_ENST00000539869.2_Missense_Mutation_p.V292L|PDE10A_ENST00000354448.4_Missense_Mutation_p.V282L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	282	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCGGCATTCACCAGGTTTTTT	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(844-846)GTG>TTG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						64.0	61.0	62.0					6																	165832247		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165832247C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.844G>T	6.37:g.165832247C>A	ENSP00000355847:p.Val282Leu					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V212L|PDE10A_uc003quo.2_Missense_Mutation_p.V292L	p.V282L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	12	1085	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	282			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.844G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.638701	0.87760	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.55760	0.5;0.5	5.03	5.03	0.67393	GAF (2);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	L	0.28694	0.88	0.80722	D	1	D;P	0.63046	0.992;0.597	D;P	0.77004	0.989;0.499	T	0.41142	-0.9525	10	0.02654	T	1	.	18.3857	0.90465	0.0:1.0:0.0:0.0	.	292;282	Q9ULW9;Q9Y233	.;PDE10_HUMAN	L	282;310;292;282;281	ENSP00000355847:V282L;ENSP00000346435:V282L	ENSP00000341187:V292L	V	-	1	0	PDE10A	165752237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.346000	0.79739	0.561000	0.74099	GTG		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			25	45	1	0	4.6e-10	5.38e-10	25	45				
RAC1	5879	broad.mit.edu	37	7	6441558	6441558	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6441558A>C	ENST00000348035.4	+	5	561	c.348A>C	c.(346-348)aaA>aaC	p.K116N	RAC1_ENST00000356142.4_Missense_Mutation_p.K135N|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	116					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TGGGAACTAAACTTGATCTTA	0.493																																						uc003spx.2		NA																	0				lung(2)	2						c.(346-348)AAA>AAC		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						147.0	123.0	131.0					7																	6441558		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441558A>C	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.348A>C	7.37:g.6441558A>C	ENSP00000258737:p.Lys116Asn					RAC1_uc003spw.2_Missense_Mutation_p.K135N	p.K116N	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	5	589	+		Ovarian(82;0.0776)	116			GTP (By similarity).		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.348A>C	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.305485	0.81247	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.87887	-2.31;-2.31	5.89	-2.19	0.07015	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94850	0.8336	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	0.957;1.0	D;D	0.91635	0.934;0.999	D	0.93646	0.6969	10	0.87932	D	0	.	11.3918	0.49820	0.5307:0.0:0.4693:0.0	.	116;135	P63000;A4D2P0	RAC1_HUMAN;.	N	116;135	ENSP00000258737:K116N;ENSP00000348461:K135N	ENSP00000258737:K116N	K	+	3	2	RAC1	6408083	0.996000	0.38824	0.869000	0.34112	0.998000	0.95712	0.431000	0.21444	-0.384000	0.07845	0.533000	0.62120	AAA		0.493	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		79	79	0	0	0	0	79	79				
C7orf26	79034	broad.mit.edu	37	7	6639935	6639936	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6639935_6639936GG>TT	ENST00000344417.5	+	4	1323_1324	c.1056_1057GG>TT	c.(1054-1059)ctGGcg>ctTTcg	p.A353S	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Missense_Mutation_p.A256S	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	353										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TGGACCGGCTGGCGCAGGCTCT	0.668																																						uc003sqo.1		NA																	0				ovary(1)	1						c.(1054-1059)CTGGCG>CTTTCG		hypothetical protein LOC79034																																				SO:0001583	missense	79034							g.chr7:6639935_6639936GG>TT	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	Exception_encountered	7.37:g.6639935_6639936delinsTT	ENSP00000340220:p.Ala353Ser					C7orf26_uc003sqp.1_Missense_Mutation_p.A256S|C7orf26_uc003sqq.1_Missense_Mutation_p.A154S	p.A353S	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	1056_1057	+		Ovarian(82;0.232)	353					Q9BQ43	Missense_Mutation	DNP	ENST00000344417.5	37	c.1056_1057GG>TT	CCDS5353.1																																																																																				0.668	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		19	34	0	0	0	0	19	34				
DNAH11	8701	broad.mit.edu	37	7	21730396	21730396	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:21730396G>T	ENST00000409508.3	+	35	5969	c.5938G>T	c.(5938-5940)Ggg>Tgg	p.G1980W	DNAH11_ENST00000328843.6_Missense_Mutation_p.G1987W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1987	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTATTTCTTGGGGAAGCTAT	0.353									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5959-5961)GGG>TGG		dynein, axonemal, heavy chain 11							160.0	153.0	155.0					7																	21730396		1825	4091	5916	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21730396G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5938G>T	7.37:g.21730396G>T	ENSP00000475939:p.Gly1980Trp						p.G1987W	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			36	5990	+			1987			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5959G>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.674501	0.88445	.	.	ENSG00000105877	ENST00000328843	T	0.18174	2.23	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.055892	0.64402	D	0.000001	T	0.47783	0.1464	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36744	-0.9735	9	0.87932	D	0	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	1987	Q96DT5	DYH11_HUMAN	W	1987	ENSP00000330671:G1987W	ENSP00000330671:G1987W	G	+	1	0	DNAH11	21696921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.770000	0.74990	2.941000	0.99782	0.655000	0.94253	GGG		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		112	166	1	0	8.58e-55	1.3e-54	112	166				
OSBPL3	26031	broad.mit.edu	37	7	24856232	24856232	+	Missense_Mutation	SNP	G	G	A	rs561433543		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:24856232G>A	ENST00000313367.2	-	18	2475	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	OSBPL3_ENST00000431825.2_Missense_Mutation_p.P608L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P608L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P639L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	675					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACTTACACTGGCAGAGTCAC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		17517	0.0		0.0	False		,,,				2504	0.001					uc003sxf.2		NA																	0				skin(1)	1						c.(2023-2025)CCA>CTA		oxysterol-binding protein-like protein 3 isoform							154.0	143.0	147.0					7																	24856232		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24856232G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2024C>T	7.37:g.24856232G>A	ENSP00000315410:p.Pro675Leu					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P639L|OSBPL3_uc003sxh.2_Missense_Mutation_p.P644L|OSBPL3_uc003sxi.2_Missense_Mutation_p.P608L	p.P675L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			18	2429	-			675					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2024C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807249	0.90623	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.59	5.59	0.84812	.	0.097739	0.64402	D	0.000001	T	0.56514	0.1990	M	0.67953	2.075	0.80722	D	1	D;D;B;P	0.89917	1.0;0.991;0.052;0.886	D;P;B;P	0.97110	1.0;0.883;0.055;0.884	T	0.49908	-0.8889	10	0.41790	T	0.15	.	20.0084	0.97443	0.0:0.0:1.0:0.0	.	608;644;639;675	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	L	675;644;639;608;644;639;608	ENSP00000315410:P675L;ENSP00000315331:P644L;ENSP00000315277:P639L;ENSP00000389779:P608L;ENSP00000379708:P644L;ENSP00000379706:P639L;ENSP00000386953:P608L	ENSP00000315410:P675L	P	-	2	0	OSBPL3	24822757	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.000000	0.88501	2.814000	0.96858	0.650000	0.86243	CCA		0.448	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			109	137	0	0	0	0	109	137				
CREB5	9586	broad.mit.edu	37	7	28534558	28534558	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:28534558G>A	ENST00000357727.2	+	3	500	c.110G>A	c.(109-111)aGg>aAg	p.R37K	CREB5_ENST00000409603.1_Missense_Mutation_p.R4K|CREB5_ENST00000396300.2_Missense_Mutation_p.R30K|CREB5_ENST00000396299.2_Missense_Mutation_p.R4K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	37					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGATTCATAGGCACAAACAT	0.388																																						uc003szq.2		NA																	0				skin(2)	2						c.(109-111)AGG>AAG		cAMP responsive element binding protein 5							131.0	139.0	136.0					7																	28534558		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28534558G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.110G>A	7.37:g.28534558G>A	ENSP00000350359:p.Arg37Lys					CREB5_uc003szo.2_Missense_Mutation_p.R4K|CREB5_uc003szr.2_Missense_Mutation_p.R30K	p.R37K	NM_182898	NP_878901	Q02930	CREB5_HUMAN			3	500	+			37			C2H2-type.		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.110G>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845956	0.32606	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T;T	0.32272	1.46;1.81;1.81;1.81;1.46	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	N	0.20881	0.62	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.02491	-1.1151	10	0.02654	T	1	-17.2296	19.9596	0.97236	0.0:0.0:1.0:0.0	.	37	Q02930	CREB5_HUMAN	K	4;30;37;30;4	ENSP00000379593:R4K;ENSP00000394088:R30K;ENSP00000350359:R37K;ENSP00000379594:R30K;ENSP00000387197:R4K	ENSP00000350359:R37K	R	+	2	0	CREB5	28501083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.461000	0.97646	2.726000	0.93360	0.655000	0.94253	AGG		0.388	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		77	128	0	0	0	0	77	128				
MTURN	222166	broad.mit.edu	37	7	30174858	30174858	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:30174858G>T	ENST00000324453.8	+	1	433	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	C7orf41_ENST00000415604.1_Missense_Mutation_p.D36Y|C7orf41_ENST00000409688.1_Missense_Mutation_p.D36Y	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		36					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						TTTCTACGCCGACCCCGGCGT	0.632																																						uc011kab.1		NA																	0					0						c.(106-108)GAC>TAC		hypothetical protein LOC222166							23.0	31.0	28.0					7																	30174858		2173	4278	6451	SO:0001583	missense	222166							g.chr7:30174858G>T																												ENST00000324453.8:c.106G>T	7.37:g.30174858G>T	ENSP00000324204:p.Asp36Tyr					C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.D36Y	p.D36Y	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN			1	307	+			36					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.106G>T	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541911	0.65198	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.66	3.66	0.41972	.	0.138530	0.46145	U	0.000317	T	0.48095	0.1481	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.52957	0.714	T	0.54860	-0.8230	9	0.72032	D	0.01	-13.0563	12.8106	0.57637	0.0:0.0:1.0:0.0	.	36	Q8N3F0	CG041_HUMAN	Y	36	.	ENSP00000324204:D36Y	D	+	1	0	C7orf41	30141383	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	8.362000	0.90100	1.567000	0.49668	0.297000	0.19635	GAC		0.632	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			10	12	1	0	2.18e-05	2.36e-05	10	12				
DDX56	54606	broad.mit.edu	37	7	44608736	44608736	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:44608736C>A	ENST00000258772.5	-	10	1392	c.1286G>T	c.(1285-1287)cGc>cTc	p.R429L	DDX56_ENST00000431640.1_Missense_Mutation_p.R389L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	429					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CACCCTGCAGCGATAGCGGAA	0.627																																						uc003tlg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1285-1287)CGC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							63.0	63.0	63.0					7																	44608736		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44608736C>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1286G>T	7.37:g.44608736C>A	ENSP00000258772:p.Arg429Leu					DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R365L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R389L|DDX56_uc010kyh.1_RNA	p.R429L	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			10	1929	-			429					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.1286G>T	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	31	5.079915	0.94050	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.06687	3.4;3.27	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.93062	3.375	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.69142	0.955;0.962	T	0.46610	-0.9179	10	0.62326	D	0.03	-19.5189	15.5154	0.75818	0.0:1.0:0.0:0.0	.	389;429	C9JV95;Q9NY93	.;DDX56_HUMAN	L	429;389;34	ENSP00000258772:R429L;ENSP00000393488:R389L	ENSP00000258772:R429L	R	-	2	0	DDX56	44575261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.211000	0.72182	2.518000	0.84900	0.655000	0.94253	CGC		0.627	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		48	62	1	0	1.48e-19	1.9e-19	48	62				
POM121L12	285877	broad.mit.edu	37	7	53103882	53103882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:53103882G>T	ENST00000408890.4	+	1	534	c.518G>T	c.(517-519)tGc>tTc	p.C173F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	173										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGGACCCCTGCACCCGGGAG	0.716																																						uc003tpz.2		NA																	0					0						c.(517-519)TGC>TTC		POM121 membrane glycoprotein-like 12							16.0	20.0	19.0					7																	53103882		1854	4072	5926	SO:0001583	missense	285877							g.chr7:53103882G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.518G>T	7.37:g.53103882G>T	ENSP00000386133:p.Cys173Phe						p.C173F	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	534	+			173					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.518G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383540	0.25031	.	.	ENSG00000221900	ENST00000408890	T	0.55234	0.53	2.35	0.456	0.16655	.	.	.	.	.	T	0.55878	0.1948	L	0.52905	1.665	0.09310	N	1	D	0.53885	0.963	P	0.57776	0.827	T	0.46105	-0.9215	9	0.87932	D	0	.	2.8294	0.05495	0.1604:0.0:0.5647:0.2749	.	173	Q8N7R1	P1L12_HUMAN	F	173	ENSP00000386133:C173F	ENSP00000386133:C173F	C	+	2	0	POM121L12	53071376	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.898000	0.28404	0.108000	0.17862	-0.324000	0.08512	TGC		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		21	28	1	0	6.21e-17	7.78e-17	21	28				
ZNF117	51351	broad.mit.edu	37	7	64439659	64439659	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:64439659T>G	ENST00000282869.6	-	4	1574	c.290A>C	c.(289-291)aAt>aCt	p.N97T		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	97					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTGTGTCTATTTGAATTTGA	0.279																																						uc003ttr.2		NA																	0				skin(1)	1						c.(289-291)AAT>ACT		zinc finger protein 117							45.0	43.0	43.0					7																	64439659		1981	4188	6169	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439659T>G	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.290A>C	7.37:g.64439659T>G	ENSP00000282869:p.Asn97Thr						p.N97T	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	1575	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	97					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.290A>C	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	4.263	0.047870	0.08243	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.49432	0.78	1.49	-2.97	0.05530	.	.	.	.	.	T	0.32734	0.0839	L	0.44542	1.39	0.09310	N	1	P	0.41624	0.757	B	0.41813	0.367	T	0.16394	-1.0404	9	0.25751	T	0.34	.	2.3787	0.04348	0.2365:0.1752:0.0:0.5883	.	97	Q03924	ZN117_HUMAN	T	97	ENSP00000282869:N97T	ENSP00000282869:N97T	N	-	2	0	ZNF117	64077094	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.383000	0.00490	-1.006000	0.03412	-0.736000	0.03550	AAT		0.279	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		35	48	0	0	0	0	35	48				
CALN1	83698	broad.mit.edu	37	7	71571224	71571224	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:71571224C>T	ENST00000329008.5	-	3	472	c.174G>A	c.(172-174)aaG>aaA	p.K58K	CALN1_ENST00000395275.2_Silent_p.K100K|CALN1_ENST00000431984.1_Silent_p.K58K|CALN1_ENST00000405452.2_Silent_p.K58K|CALN1_ENST00000412588.1_Silent_p.K100K|CALN1_ENST00000395276.2_Silent_p.K58K	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	58	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCAGCTCCTGCTTGGAGATGA	0.567																																						uc003twa.3		NA																	0				skin(1)	1						c.(172-174)AAG>AAA		calneuron 1 isoform 2							77.0	66.0	70.0					7																	71571224		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571224C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.174G>A	7.37:g.71571224C>T						CALN1_uc003twb.3_Silent_p.K100K|CALN1_uc003twc.3_Silent_p.K58K	p.K58K	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	701	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	58			EF-hand 1.|Cytoplasmic (Potential).|1 (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.174G>A	CCDS5541.1																																																																																				0.567	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		28	33	0	0	0	0	28	33				
LIMK1	3984	broad.mit.edu	37	7	73521389	73521389	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:73521389C>T	ENST00000336180.2	+	8	982	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S	LIMK1_ENST00000538333.3_Missense_Mutation_p.P277S|LIMK1_ENST00000418310.1_Missense_Mutation_p.P341S	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	311					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ACTGGGCTCCCCGGCCTCCCA	0.701																																						uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(931-933)CCG>TCG		LIM domain kinase 1							21.0	20.0	20.0					7																	73521389		2200	4298	6498	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73521389C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.931C>T	7.37:g.73521389C>T	ENSP00000336740:p.Pro311Ser					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_Intron|LIMK1_uc003uab.2_Missense_Mutation_p.P277S|LIMK1_uc003uac.1_Missense_Mutation_p.P103S	p.P311S	NM_002314	NP_002305	P53667	LIMK1_HUMAN			8	1096	+		Lung NSC(55;0.137)	311					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.931C>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164585	0.21538	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.75821	-0.95;-0.93;-0.97	5.19	4.3	0.51218	Protein kinase-like domain (1);	0.060562	0.64402	D	0.000002	T	0.67534	0.2903	L	0.49640	1.575	0.53688	D	0.999975	B;B;B	0.26363	0.147;0.005;0.005	B;B;B	0.21546	0.035;0.009;0.009	T	0.66384	-0.5937	10	0.56958	D	0.05	-23.6217	11.562	0.50782	0.0:0.9122:0.0:0.0878	.	206;277;311	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	S	341;311;311;277	ENSP00000409717:P341S;ENSP00000336740:P311S;ENSP00000444452:P277S	ENSP00000336740:P311S	P	+	1	0	LIMK1	73159325	0.997000	0.39634	0.039000	0.18376	0.031000	0.12232	4.544000	0.60691	1.195000	0.43115	0.650000	0.86243	CCG		0.701	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		13	16	0	0	0	0	13	16				
CACNA2D1	781	broad.mit.edu	37	7	81693670	81693670	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:81693670C>A	ENST00000356253.5	-	9	984	c.729G>T	c.(727-729)tgG>tgT	p.W243C	CACNA2D1_ENST00000423588.1_Splice_Site_p.W243C|CACNA2D1_ENST00000356860.3_Splice_Site_p.W243C			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	243					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTGGATGTACCTGAAACAAA	0.318																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(727-729)TGG>TGT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						78.0	75.0	76.0					7																	81693670		2202	4298	6500	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81693670C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.729-1G>T	7.37:g.81693670C>A							p.W243C	NM_000722	NP_000713	P54289	CA2D1_HUMAN			9	985	-			243			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.729G>T		.	.	.	.	.	.	.	.	.	.	C	17.93	3.509913	0.64522	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.52057	2.32;2.3;0.68	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.91354	3.2	0.80722	D	1	P	0.39748	0.686	P	0.45856	0.495	T	0.74328	-0.3701	10	0.87932	D	0	.	17.4859	0.87688	0.0:1.0:0.0:0.0	.	243	P54289-2	.	C	243	ENSP00000349320:W243C;ENSP00000348589:W243C;ENSP00000405395:W243C	ENSP00000284088:W243C	W	-	3	0	CACNA2D1	81531606	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.186000	0.77722	2.658000	0.90341	0.650000	0.86243	TGG		0.318	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	28	57	1	0	2.61e-14	3.2e-14	28	57				
RUNDC3B	154661	broad.mit.edu	37	7	87329865	87329865	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:87329865G>A	ENST00000338056.3	+	4	829	c.418G>A	c.(418-420)Gct>Act	p.A140T	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A123T|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A123T|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	140	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTTCTAGAGCTAAGGTAAG	0.383																																						uc003ujb.2		NA																	0				skin(1)	1						c.(418-420)GCT>ACT		RUN domain containing 3B isoform a							103.0	101.0	102.0					7																	87329865		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87329865G>A		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.418G>A	7.37:g.87329865G>A	ENSP00000337732:p.Ala140Thr					ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.A123T|RUNDC3B_uc011khe.1_Missense_Mutation_p.A123T|RUNDC3B_uc003ujc.2_Missense_Mutation_p.A123T|RUNDC3B_uc003ujd.2_Missense_Mutation_p.A45T	p.A140T	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			4	829	+	Esophageal squamous(14;0.00164)		140			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.418G>A	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543284	0.96474	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.12465	2.68;2.68;2.68	5.18	5.18	0.71444	RUN (2);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;0.996;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.993;0.987;0.999	T	0.16928	-1.0386	10	0.87932	D	0	-10.2261	18.2905	0.90129	0.0:0.0:1.0:0.0	.	123;123;45;123;140	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	T	140;123;123	ENSP00000337732:A140T;ENSP00000420394:A123T;ENSP00000378149:A123T	ENSP00000337732:A140T	A	+	1	0	RUNDC3B	87167801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.402000	0.81655	0.585000	0.79938	GCT		0.383	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		72	142	0	0	0	0	72	142				
PPP1R9A	55607	broad.mit.edu	37	7	94879404	94879404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:94879404G>T	ENST00000433881.1	+	9	2699	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E745*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E723*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	723	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAAAACATAGAAGAGAATAA	0.413										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2167-2169)GAA>TAA		protein phosphatase 1, regulatory (inhibitor)							76.0	71.0	73.0					7																	94879404		2203	4300	6503	SO:0001587	stop_gained	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879404G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2167G>T	7.37:g.94879404G>T	ENSP00000398870:p.Glu723*	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E745*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E723*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E723*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E723*	p.E723*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	2449	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		723			Interacts with TGN38 (By similarity).|Potential.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	c.2167G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	37	6.502007	0.97620	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.04	5.04	0.67666	.	0.048621	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9569	0.92662	0.0:0.0:1.0:0.0	.	.	.	.	X	745;723;723;723;723;723	.	ENSP00000289495:E723X	E	+	1	0	PPP1R9A	94717340	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.746000	0.85057	2.783000	0.95769	0.655000	0.94253	GAA		0.413	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		16	32	1	0	4.76e-15	5.85e-15	16	32				
PON2	5445	broad.mit.edu	37	7	95034735	95034735	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:95034735C>T	ENST00000222572.3	-	9	1218	c.972G>A	c.(970-972)ggG>ggA	p.G324G	PON2_ENST00000536183.1_Silent_p.G345G|PON2_ENST00000433091.2_Silent_p.G312G|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	324					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GGAGAACAGACCCATTGTTGG	0.423																																					GBM(42;803 823 13649 23368 31463)	uc003unv.2		NA																	0					0						c.(970-972)GGG>GGA		paraoxonase 2 isoform 1							180.0	150.0	160.0					7																	95034735		2203	4300	6503	SO:0001819	synonymous_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95034735C>T	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.972G>A	7.37:g.95034735C>T						PON2_uc003unu.2_Silent_p.G312G|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.G237G	p.G324G	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1093	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		324					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Silent	SNP	ENST00000222572.3	37	c.972G>A	CCDS5640.1																																																																																				0.423	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		57	92	0	0	0	0	57	92				
BAIAP2L1	55971	broad.mit.edu	37	7	97920509	97920509	+	IGR	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:97920509C>T	ENST00000005260.8	-	0	3622				BRI3_ENST00000297290.3_Missense_Mutation_p.A111V|BRI3_ENST00000539286.1_Intron|BRI3_ENST00000473967.1_3'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGTTTTGCCTTGAGGAAG	0.542																																						uc003upi.2		NA																	0					0						c.(331-333)GCC>GTC		brain protein I3 isoform a							167.0	116.0	133.0					7																	97920509		2203	4300	6503	SO:0001628	intergenic_variant	25798					integral to membrane		g.chr7:97920509C>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920509C>T						BRI3_uc011kip.1_Intron	p.A111V	NM_015379	NP_056194	O95415	BRI3_HUMAN			3	461	+	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		111			Helical; (Potential).		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.332C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729941	0.89390	.	.	ENSG00000164713	ENST00000297290	T	0.58060	0.36	5.51	5.51	0.81932	.	0.068444	0.56097	D	0.000025	T	0.68997	0.3062	L	0.53561	1.675	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.68273	-0.5452	10	0.49607	T	0.09	-3.7732	18.3917	0.90485	0.0:1.0:0.0:0.0	.	111	O95415	BRI3_HUMAN	V	111	ENSP00000297290:A111V	ENSP00000297290:A111V	A	+	2	0	BRI3	97758445	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.783000	0.85696	2.590000	0.87494	0.655000	0.94253	GCC		0.542	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		98	115	0	0	0	0	98	115				
MUC17	140453	broad.mit.edu	37	7	100677017	100677017	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100677017A>T	ENST00000306151.4	+	3	2384	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	774	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTCTTGACACAAGCACACA	0.468																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2320-2322)ACA>TCA		mucin 17 precursor							278.0	281.0	280.0					7																	100677017		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677017A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2320A>T	7.37:g.100677017A>T	ENSP00000302716:p.Thr774Ser					MUC17_uc010lho.1_RNA	p.T774S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		774			Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2320A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.971155	0.00457	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.932	-0.523	0.11924	.	.	.	.	.	T	0.01523	0.0049	N	0.17082	0.46	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.48387	-0.9040	9	0.06236	T	0.91	.	4.4708	0.11712	0.7739:0.0:0.2261:0.0	.	774	Q685J3	MUC17_HUMAN	S	774	ENSP00000302716:T774S	ENSP00000302716:T774S	T	+	1	0	MUC17	100463737	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.070000	0.03440	-0.111000	0.12001	0.113000	0.15668	ACA		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		226	310	0	0	0	0	226	310				
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10999-11001)ATC>ATA		mucin 17 precursor							202.0	179.0	187.0					7																	100685698		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685698C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11001C>A	7.37:g.100685698C>A						MUC17_uc010lho.1_RNA	p.I3667I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11054	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3667			Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11001C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		86	138	1	0	4.48e-22	5.87e-22	86	138				
CUX1	1523	broad.mit.edu	37	7	101837129	101837129	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:101837129A>T	ENST00000292535.7	+	13	1122	c.1084A>T	c.(1084-1086)Aag>Tag	p.K362*	CUX1_ENST00000393824.3_Nonsense_Mutation_p.K334*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.K371*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.K373*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.K357*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.K327*|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000549414.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.K373*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.K362*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	362					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCATTCTGAAGTCCATGGA	0.527																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1084-1086)AAG>TAG		cut-like homeobox 1 isoform a							74.0	63.0	67.0					7																	101837129		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101837129A>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1084A>T	7.37:g.101837129A>T	ENSP00000292535:p.Lys362*					CUX1_uc003uys.3_Nonsense_Mutation_p.K373*|CUX1_uc003uyt.2_Nonsense_Mutation_p.K373*|CUX1_uc011kkn.1_Nonsense_Mutation_p.K334*|CUX1_uc003uyw.2_Nonsense_Mutation_p.K327*|CUX1_uc003uyv.2_Nonsense_Mutation_p.K357*|CUX1_uc003uyu.2_Nonsense_Mutation_p.K371*	p.K362*	NM_181552	NP_853530	P39880	CUX1_HUMAN			13	1122	+			362			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.1084A>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	44	10.622074	0.99439	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.0703	15.71	0.77620	1.0:0.0:0.0:0.0	.	.	.	.	X	373;357;373;327;371;362;362;362;362;362	.	ENSP00000292535:K362X	K	+	1	0	CUX1	101623849	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.642000	0.83385	2.179000	0.69175	0.459000	0.35465	AAG		0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		24	27	0	0	0	0	24	27				
RELN	5649	broad.mit.edu	37	7	103234159	103234159	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:103234159G>T	ENST00000428762.1	-	27	4041	c.3882C>A	c.(3880-3882)acC>acA	p.T1294T	RELN_ENST00000424685.2_Silent_p.T1294T|RELN_ENST00000343529.5_Silent_p.T1294T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1294					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGTTTCAGGGTCAAATCTC	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3880-3882)ACC>ACA		reelin isoform a							166.0	155.0	159.0					7																	103234159		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234159G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3882C>A	7.37:g.103234159G>T						RELN_uc010liz.2_Silent_p.T1294T	p.T1294T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	27	4042	-			1294					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3882C>A	CCDS47680.1																																																																																				0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		83	153	1	0	1.55e-36	2.23e-36	83	153				
GPR22	2845	broad.mit.edu	37	7	107115363	107115363	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:107115363T>A	ENST00000304402.4	+	3	2201	c.858T>A	c.(856-858)acT>acA	p.T286T	COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	286					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTGTAAGAACTTCAGTTTCTG	0.408																																						uc003vef.2		NA																	0				ovary(2)	2						c.(856-858)ACT>ACA		G protein-coupled receptor 22							119.0	113.0	115.0					7																	107115363		2202	4299	6501	SO:0001819	synonymous_variant	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115363T>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.858T>A	7.37:g.107115363T>A						COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.T286T	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2204	+			286			Cytoplasmic (Potential).		O14554	Silent	SNP	ENST00000304402.4	37	c.858T>A	CCDS5744.1																																																																																				0.408	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			51	49	0	0	0	0	51	49				
PPP1R3A	5506	broad.mit.edu	37	7	113519932	113519932	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:113519932T>C	ENST00000284601.3	-	4	1283	c.1215A>G	c.(1213-1215)tcA>tcG	p.S405S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	405					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGTTTCCTCTGAAGGTTGAT	0.413																																						uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1213-1215)TCA>TCG		protein phosphatase 1, regulatory (inhibitor)							159.0	153.0	155.0					7																	113519932		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519932T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1215A>G	7.37:g.113519932T>C							p.S405S	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1246	-			405					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1215A>G	CCDS5759.1																																																																																				0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		186	203	0	0	0	0	186	203				
CPED1	79974	broad.mit.edu	37	7	120629907	120629907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:120629907G>A	ENST00000310396.5	+	2	699	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.A78T|CPED1_ENST00000340646.5_Missense_Mutation_p.A78T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	78						endoplasmic reticulum (GO:0005783)											CTCTGGTAATGCCCAGGAAAC	0.458																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(232-234)GCC>ACC		hypothetical protein LOC79974 isoform 1							90.0	97.0	94.0					7																	120629907		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120629907G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.232G>A	7.37:g.120629907G>A	ENSP00000309772:p.Ala78Thr					C7orf58_uc003vjr.1_Missense_Mutation_p.A78T|C7orf58_uc003vjs.3_Missense_Mutation_p.A78T	p.A78T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	679	+	all_neural(327;0.117)		78					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.232G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452882	0.43531	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.78	0.302	0.15786	.	0.504938	0.20747	N	0.086439	T	0.22781	0.0550	L	0.31294	0.92	0.09310	N	1	B;B	0.17852	0.011;0.024	B;B	0.16722	0.009;0.016	T	0.09684	-1.0663	10	0.21540	T	0.41	.	3.2129	0.06689	0.1508:0.3062:0.417:0.126	.	78;78	A4D0V7-2;A4D0V7	.;CG058_HUMAN	T	78	ENSP00000309772:A78T;ENSP00000398082:A78T;ENSP00000406122:A78T;ENSP00000345235:A78T	ENSP00000309772:A78T	A	+	1	0	C7orf58	120417143	0.009000	0.17119	0.005000	0.12908	0.896000	0.52359	0.425000	0.21346	0.357000	0.24183	0.655000	0.94253	GCC		0.458	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		60	98	0	0	0	0	60	98				
FLNC	2318	broad.mit.edu	37	7	128488080	128488080	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:128488080A>G	ENST00000325888.8	+	26	4799	c.4538A>G	c.(4537-4539)tAc>tGc	p.Y1513C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.Y1513C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1513					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GACGGGCCCTACACGGTAGCC	0.667																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4537-4539)TAC>TGC		gamma filamin isoform a							26.0	34.0	31.0					7																	128488080		2145	4240	6385	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488080A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4538A>G	7.37:g.128488080A>G	ENSP00000327145:p.Tyr1513Cys					FLNC_uc003voa.3_Missense_Mutation_p.Y1513C	p.Y1513C	NM_001458	NP_001449	Q14315	FLNC_HUMAN			26	4747	+			1513			Filamin 13.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4538A>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043320	0.75732	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.78126	-1.15;-1.15	5.12	5.12	0.69794	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	M	0.89478	3.035	0.58432	D	0.999997	D;P	0.76494	0.999;0.489	D;P	0.70016	0.967;0.457	D	0.90892	0.4762	10	0.56958	D	0.05	.	15.2071	0.73186	1.0:0.0:0.0:0.0	.	1513;1513	Q14315-2;Q14315	.;FLNC_HUMAN	C	1513	ENSP00000327145:Y1513C;ENSP00000344002:Y1513C	ENSP00000327145:Y1513C	Y	+	2	0	FLNC	128275316	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.257000	0.65473	2.056000	0.61249	0.459000	0.35465	TAC		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			8	9	0	0	0	0	8	9				
PLXNA4	91584	broad.mit.edu	37	7	131853075	131853075	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131853075A>T	ENST00000359827.3	-	22	5236	c.4274T>A	c.(4273-4275)cTg>cAg	p.L1425Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1425Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1425					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTGAGCAGCAGCTTAGGGTG	0.612																																						uc003vra.3		NA																	0				ovary(1)	1						c.(4273-4275)CTG>CAG		plexin A4 isoform 1							55.0	59.0	58.0					7																	131853075		2199	4298	6497	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853075A>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4274T>A	7.37:g.131853075A>T	ENSP00000352882:p.Leu1425Gln						p.L1425Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4503	-			1425			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4274T>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481705	0.84747	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.27256	1.68;1.68	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70828	-0.4766	10	0.56958	D	0.05	.	15.5722	0.76349	1.0:0.0:0.0:0.0	.	1425	Q9HCM2	PLXA4_HUMAN	Q	1425	ENSP00000323194:L1425Q;ENSP00000352882:L1425Q	ENSP00000323194:L1425Q	L	-	2	0	PLXNA4	131503615	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.087000	0.62958	0.379000	0.24179	CTG		0.612	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	13	0	0	0	0	9	13				
PLXNA4	91584	broad.mit.edu	37	7	131913220	131913220	+	Missense_Mutation	SNP	C	C	A	rs371929100		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131913220C>A	ENST00000359827.3	-	6	2575	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R538L			Q9HCM2	PLXA4_HUMAN	plexin A4	538	PSI 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCTCCTTCCGGGTGCAACT	0.607																																						uc003vra.3		NA																	0				ovary(1)	1						c.(1612-1614)CGG>CTG		plexin A4 isoform 1							56.0	60.0	59.0					7																	131913220		1984	4170	6154	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913220C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1613G>T	7.37:g.131913220C>A	ENSP00000352882:p.Arg538Leu						p.R538L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			6	1842	-			538			PSI 1.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1613G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405183	0.42613	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18657	2.2;2.2	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.13335	-1.0513	10	0.05351	T	0.99	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	538	Q9HCM2	PLXA4_HUMAN	L	538	ENSP00000323194:R538L;ENSP00000352882:R538L	ENSP00000323194:R538L	R	-	2	0	PLXNA4	131563760	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.687000	0.84139	2.733000	0.93635	0.655000	0.94253	CGG		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		34	48	1	0	2.87e-16	3.57e-16	34	48				
WDR91	29062	broad.mit.edu	37	7	134893687	134893687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:134893687C>T	ENST00000354475.4	-	3	398	c.367G>A	c.(367-369)Gct>Act	p.A123T	WDR91_ENST00000423565.1_Missense_Mutation_p.A88T|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.A123T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	123										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCCACTCAGCCTGGTTCTGG	0.537																																						uc003vsp.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(367-369)GCT>ACT		WD repeat domain 91							184.0	155.0	165.0					7																	134893687		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134893687C>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.367G>A	7.37:g.134893687C>T	ENSP00000346466:p.Ala123Thr					WDR91_uc010lmq.2_5'Flank|WDR91_uc010lmr.2_5'Flank	p.A123T	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			3	429	-			123					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.367G>A	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862100	0.51482	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91631	-2.88;-2.88;-2.88	5.77	4.89	0.63831	.	0.145674	0.64402	D	0.000009	D	0.90061	0.6896	M	0.65975	2.015	0.80722	D	1	P	0.47302	0.893	B	0.40410	0.328	D	0.88258	0.2921	10	0.19590	T	0.45	-19.4769	15.1712	0.72875	0.0:0.9322:0.0:0.0678	.	123	A4D1P6	WDR91_HUMAN	T	123;123;88	ENSP00000340877:A123T;ENSP00000346466:A123T;ENSP00000392555:A88T	ENSP00000340877:A123T	A	-	1	0	WDR91	134544227	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	4.739000	0.62080	1.587000	0.49959	-0.145000	0.13849	GCT		0.537	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		81	134	0	0	0	0	81	134				
AKR1D1	6718	broad.mit.edu	37	7	137773407	137773407	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:137773407A>G	ENST00000242375.3	+	2	196	c.154A>G	c.(154-156)Att>Gtt	p.I52V	AKR1D1_ENST00000432161.1_Missense_Mutation_p.I52V|RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000411726.2_Missense_Mutation_p.I52V|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	52					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GTACCGACATATTGATGGGGC	0.488																																						uc003vtz.2		NA																	0				skin(1)	1						c.(154-156)ATT>GTT		aldo-keto reductase family 1, member D1							115.0	96.0	103.0					7																	137773407		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137773407A>G	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.154A>G	7.37:g.137773407A>G	ENSP00000242375:p.Ile52Val					AKR1D1_uc011kqb.1_Missense_Mutation_p.I52V|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.I52V|AKR1D1_uc011kqf.1_Missense_Mutation_p.I52V	p.I52V	NM_005989	NP_005980	P51857	AK1D1_HUMAN			2	223	+			52					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.154A>G	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	A	7.843	0.722305	0.15372	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.57907	0.37;0.37;0.37	5.4	-9.73	0.00512	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.318056	0.33161	N	0.005213	T	0.44664	0.1304	L	0.51853	1.615	0.24301	N	0.995122	B;B;B	0.23316	0.083;0.045;0.02	B;B;B	0.35727	0.209;0.069;0.051	T	0.41360	-0.9513	10	0.48119	T	0.1	.	16.0958	0.81123	0.2295:0.0:0.0:0.7705	.	52;52;52	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	V	52	ENSP00000389197:I52V;ENSP00000402374:I52V;ENSP00000242375:I52V	ENSP00000242375:I52V	I	+	1	0	AKR1D1	137423947	0.243000	0.23878	0.001000	0.08648	0.048000	0.14542	-0.027000	0.12371	-1.353000	0.02191	-0.309000	0.09137	ATT		0.488	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		32	41	0	0	0	0	32	41				
WEE2	494551	broad.mit.edu	37	7	141424933	141424933	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141424933C>A	ENST00000397541.2	+	9	1735	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGCACCATATCCGCAAGGGTA	0.493																																						uc003vwn.2		NA																	0				ovary(1)|stomach(1)	2						c.(1327-1329)ATC>ATA		WEE1 homolog 2							75.0	74.0	74.0					7																	141424933		1965	4152	6117	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141424933C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1329C>A	7.37:g.141424933C>A						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.I443I	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			9	1735	+	Melanoma(164;0.0171)		443			Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.1329C>A	CCDS43660.1																																																																																				0.493	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		49	69	1	0	8e-19	1.02e-18	49	69				
MGAM	8972	broad.mit.edu	37	7	141803074	141803074	+	Silent	SNP	G	G	A	rs374695000		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141803074G>A	ENST00000549489.2	+	47	5426	c.5331G>A	c.(5329-5331)acG>acA	p.T1777T	MGAM_ENST00000475668.2_Silent_p.T2673T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1777	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACAGAATACGATGCAAAGCC	0.348																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(5329-5331)ACG>ACA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						49.0	44.0	46.0					7																	141803074		1837	4090	5927	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141803074G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5331G>A	7.37:g.141803074G>A							p.T1777T	NM_004668	NP_004659	O43451	MGA_HUMAN			47	5385	+	Melanoma(164;0.0272)		1777			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.5331G>A	CCDS47727.1																																																																																				0.348	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			13	12	0	0	0	0	13	12				
OR2F2	135948	broad.mit.edu	37	7	143633169	143633169	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143633169A>T	ENST00000408955.2	+	1	911	c.844A>T	c.(844-846)Atg>Ttg	p.M282L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCATTGTTATGCCTCTGCT	0.463																																						uc011ktv.1		NA																	0				ovary(3)|skin(1)	4						c.(844-846)ATG>TTG		olfactory receptor, family 2, subfamily F,							91.0	93.0	93.0					7																	143633169		2186	4297	6483	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633169A>T		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.844A>T	7.37:g.143633169A>T	ENSP00000386222:p.Met282Leu						p.M282L	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	844	+	Melanoma(164;0.0903)		282			Helical; Name=7; (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.844A>T	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	3.263	-0.150806	0.06585	.	.	ENSG00000221910	ENST00000408955	T	0.36340	1.26	3.57	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.830295	0.10212	N	0.702058	T	0.21590	0.0520	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.23583	-1.0184	10	0.87932	D	0	5.0106	6.004	0.19537	0.7696:0.0:0.0:0.2304	.	282	O95006	OR2F2_HUMAN	L	282	ENSP00000386222:M282L	ENSP00000386222:M282L	M	+	1	0	OR2F2	143264102	0.020000	0.18652	0.002000	0.10522	0.030000	0.12068	2.951000	0.49089	0.524000	0.28502	0.402000	0.26972	ATG		0.463	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			88	111	0	0	0	0	88	111				
OR2A25	392138	broad.mit.edu	37	7	143772005	143772005	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143772005G>C	ENST00000408898.2	+	1	731	c.693G>C	c.(691-693)gaG>gaC	p.E231D		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCAGGAGAGGGGTGCCAGA	0.483																																						uc011ktx.1		NA																	0					0						c.(691-693)GAG>GAC		olfactory receptor, family 2, subfamily A,							108.0	117.0	114.0					7																	143772005		2148	4290	6438	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772005G>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.693G>C	7.37:g.143772005G>C	ENSP00000386167:p.Glu231Asp						p.E231D	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	693	+	Melanoma(164;0.0783)		231			Cytoplasmic (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.693G>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	7.013	0.557247	0.13436	.	.	ENSG00000221933	ENST00000408898	T	0.00193	8.58	4.84	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.59436	1.845	0.09310	N	1	P	0.45283	0.855	B	0.40134	0.32	T	0.34551	-0.9824	9	0.72032	D	0.01	-3.2606	5.4265	0.16429	0.3916:0.0:0.4809:0.1275	.	231	A4D2G3	O2A25_HUMAN	D	231	ENSP00000386167:E231D	ENSP00000386167:E231D	E	+	3	2	OR2A25	143402938	0.000000	0.05858	0.077000	0.20336	0.002000	0.02628	-0.846000	0.04336	-0.232000	0.09811	-1.278000	0.01390	GAG		0.483	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			92	140	0	0	0	0	92	140				
CNTNAP2	26047	broad.mit.edu	37	7	146829578	146829578	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:146829578T>A	ENST00000361727.3	+	8	1841	c.1325T>A	c.(1324-1326)aTg>aAg	p.M442K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	442	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGACCAAGATGAGCCAAATC	0.408										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1324-1326)ATG>AAG		cell recognition molecule Caspr2 precursor							117.0	99.0	105.0					7																	146829578		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829578T>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1325T>A	7.37:g.146829578T>A	ENSP00000354778:p.Met442Lys	HNSCC(39;0.1)					p.M442K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1841	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	442			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1325T>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	2.521	-0.310700	0.05458	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.7	1.85	0.25348	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.700066	0.13015	N	0.420586	T	0.31167	0.0788	N	0.00413	-1.525	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42103	-0.9471	10	0.05436	T	0.98	.	3.4126	0.07364	0.3238:0.2034:0.0:0.4728	.	442	Q9UHC6	CNTP2_HUMAN	K	442	ENSP00000354778:M442K	ENSP00000354778:M442K	M	+	2	0	CNTNAP2	146460511	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.923000	0.40055	0.449000	0.26747	0.482000	0.46254	ATG		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			48	69	0	0	0	0	48	69				
AGAP3	116988	broad.mit.edu	37	7	150837179	150837179	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150837179G>A	ENST00000397238.2	+	13	1780	c.1780G>A	c.(1780-1782)Gac>Aac	p.D594N	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCGACCAGACGGCCCCAG	0.607																																						uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1780-1782)GAC>AAC		centaurin, gamma 3 isoform a							19.0	25.0	23.0					7																	150837179		1820	4073	5893	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150837179G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1780G>A	7.37:g.150837179G>A	ENSP00000380413:p.Asp594Asn					AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Missense_Mutation_p.D93N|AGAP3_uc003wjk.1_5'UTR	p.D594N	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			13	1783	+			558			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1780G>A	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097141	0.94197	.	.	ENSG00000133612	ENST00000397232;ENST00000397238;ENST00000335355	T	0.69926	-0.44	4.86	4.86	0.63082	.	0.373904	0.26210	N	0.025684	T	0.74298	0.3698	L	0.38838	1.175	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.81914	0.906;0.995	T	0.72966	-0.4131	10	0.34782	T	0.22	.	16.9966	0.86369	0.0:0.0:1.0:0.0	.	93;594	E7ETI2;Q96P47-4	.;.	N	93;594;558	ENSP00000380413:D594N	ENSP00000334157:D558N	D	+	1	0	AGAP3	150468112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.586000	0.98226	2.247000	0.74100	0.655000	0.94253	GAC		0.607	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		11	20	0	0	0	0	11	20				
ASB10	136371	broad.mit.edu	37	7	150878289	150878289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150878289G>A	ENST00000420175.2	-	3	865	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	ASB10_ENST00000275838.1_Missense_Mutation_p.L281F|ASB10_ENST00000422024.1_Missense_Mutation_p.L326F|ASB10_ENST00000434669.1_Missense_Mutation_p.L326F|ASB10_ENST00000377867.3_Missense_Mutation_p.L266F			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	281					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGAAAGCAGCAAGCTG	0.677																																						uc003wjm.1		NA																	0					0						c.(976-978)CTT>TTT		ankyrin repeat and SOCS box-containing 10							29.0	30.0	30.0					7																	150878289		2202	4298	6500	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878289G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.841C>T	7.37:g.150878289G>A	ENSP00000391137:p.Leu281Phe					ASB10_uc003wjl.1_Missense_Mutation_p.L326F|ASB10_uc003wjn.1_Missense_Mutation_p.L266F	p.L326F	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1102	-			281			ANK 5.		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.976C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580589	0.65992	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.154808	0.44902	D	0.000409	D	0.85234	0.5650	M	0.86864	2.845	0.44539	D	0.997493	D;D;P	0.71674	0.978;0.998;0.908	P;D;P	0.70487	0.868;0.969;0.84	D	0.87554	0.2467	10	0.87932	D	0	-8.8288	14.6784	0.68998	0.0:0.1562:0.8438:0.0	.	266;281;326	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	F	281;266;326;326;281	ENSP00000275838:L281F;ENSP00000367098:L266F;ENSP00000401369:L326F;ENSP00000398247:L326F;ENSP00000391137:L281F	ENSP00000275838:L281F	L	-	1	0	ASB10	150509222	1.000000	0.71417	0.993000	0.49108	0.482000	0.33219	1.894000	0.39768	2.629000	0.89072	0.591000	0.81541	CTT		0.677	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		27	40	0	0	0	0	27	40				
KMT2C	58508	broad.mit.edu	37	7	151927067	151927067	+	Missense_Mutation	SNP	T	T	C	rs60244562		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:151927067T>C	ENST00000262189.6	-	18	3135	c.2917A>G	c.(2917-2919)Aga>Gga	p.R973G	KMT2C_ENST00000355193.2_Missense_Mutation_p.R973G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	973					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCAAGTAATCTTCCTTCTGCT	0.353																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2917-2919)AGA>GGA		myeloid/lymphoid or mixed-lineage leukemia 3							64.0	53.0	56.0					7																	151927067		2199	4280	6479	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927067T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2917A>G	7.37:g.151927067T>C	ENSP00000262189:p.Arg973Gly					MLL3_uc003wkz.2_Missense_Mutation_p.R34G	p.R973G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3136	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	973			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2917A>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.48|13.48	2.250594|2.250594	0.39797|0.39797	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.87491	.|-2.26;-2.26	4.67|4.67	2.1|2.1	0.27182|0.27182	.|Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.45126	.|U	.|0.000395	D|D	0.89111|0.89111	0.6622|0.6622	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.85130	.|0.994;0.997	D|D	0.87223|0.87223	0.2255|0.2255	5|10	.|0.49607	.|T	.|0.09	.|.	13.311|13.311	0.60380|0.60380	0.0:0.0:0.4954:0.5046|0.0:0.0:0.4954:0.5046	rs60244562|rs60244562	.|973;34	.|Q8NEZ4;Q8NEZ4-2	.|MLL3_HUMAN;.	R|G	128|973	.|ENSP00000262189:R973G;ENSP00000347325:R973G	.|ENSP00000262189:R973G	K|R	-|-	2|1	0|2	MLL3|MLL3	151558000|151558000	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	1.399000|1.399000	0.34566|0.34566	0.200000|0.200000	0.20447|0.20447	0.377000|0.377000	0.23210|0.23210	AAG|AGA		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	458	0	0	0	0	5	458				
PTPRN2	5799	broad.mit.edu	37	7	157985038	157985038	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:157985038T>C	ENST00000389418.4	-	5	539	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q200R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q160R|PTPRN2_ENST00000389413.3_Missense_Mutation_p.Q177R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q139R	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	177					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCTGTCCTGCGCCGTATG	0.677																																						uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(529-531)CAG>CGG		protein tyrosine phosphatase, receptor type, N							34.0	39.0	37.0					7																	157985038		2203	4299	6502	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985038T>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.530A>G	7.37:g.157985038T>C	ENSP00000374069:p.Gln177Arg					PTPRN2_uc003wnp.2_Missense_Mutation_p.Q160R|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q177R|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q139R|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q200R	p.Q177R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	5	651	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	177			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.530A>G	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	T	0.053	-1.244267	0.01481	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02863	4.14;4.13;4.14;4.14;4.13	4.17	-4.51	0.03483	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.19817	0.039;0.009;0.016;0.009;0.009	B;B;B;B;B	0.18561	0.022;0.01;0.022;0.01;0.01	T	0.49072	-0.8977	9	0.17832	T	0.49	.	0.2885	0.00255	0.2843:0.1846:0.291:0.2401	.	200;139;177;160;177	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	R	139;177;160;177;200	ENSP00000387114:Q139R;ENSP00000374064:Q177R;ENSP00000374067:Q160R;ENSP00000374069:Q177R;ENSP00000385464:Q200R	ENSP00000374064:Q177R	Q	-	2	0	PTPRN2	157677799	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.746000	0.04829	-0.756000	0.04703	-0.403000	0.06358	CAG		0.677	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			25	35	0	0	0	0	25	35				
BLK	640	broad.mit.edu	37	8	11418850	11418850	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:11418850A>G	ENST00000259089.4	+	11	1661	c.1069A>G	c.(1069-1071)Atc>Gtc	p.I357V	RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.I286V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATGAATTCCATCCACCGCGA	0.562																																						uc003wty.2		NA																	0				large_intestine(1)|stomach(1)|ovary(1)	3						c.(1069-1071)ATC>GTC		B lymphoid tyrosine kinase							109.0	86.0	94.0					8																	11418850		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11418850A>G	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1069A>G	8.37:g.11418850A>G	ENSP00000259089:p.Ile357Val					BLK_uc003wtz.2_Missense_Mutation_p.I286V|BLK_uc003wua.2_Missense_Mutation_p.I193V	p.I357V	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	11	1650	+			357			Protein kinase.		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.1069A>G	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368069	0.61513	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894;ENST00000526097	D;D	0.81739	-1.53;-1.53	4.6	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000451	T	0.68128	0.2967	N	0.00446	-1.495	0.58432	D	0.999999	D;D	0.67145	0.996;0.99	D;P	0.71184	0.972;0.9	T	0.79349	-0.1840	10	0.38643	T	0.18	.	13.4581	0.61210	1.0:0.0:0.0:0.0	.	193;357	E9PM44;P51451	.;BLK_HUMAN	V	357;357;286;193	ENSP00000259089:I357V;ENSP00000433663:I286V	ENSP00000259089:I357V	I	+	1	0	BLK	11456259	1.000000	0.71417	0.993000	0.49108	0.577000	0.36160	8.986000	0.93492	1.825000	0.53177	0.459000	0.35465	ATC		0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			25	25	0	0	0	0	25	25				
PDLIM2	64236	broad.mit.edu	37	8	22442530	22442530	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:22442530G>A	ENST00000397760.4	+	5	716	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	PDLIM2_ENST00000308354.7_Splice_Site_p.G356S|PDLIM2_ENST00000339162.7_Splice_Site_p.G106S|PDLIM2_ENST00000265810.4_Splice_Site_p.G106S|PDLIM2_ENST00000397761.2_Splice_Site_p.G106S|PDLIM2_ENST00000409141.1_Splice_Site_p.G106S|PDLIM2_ENST00000409417.1_Splice_Site_p.G106S|PDLIM2_ENST00000448520.1_3'UTR			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	106						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTCTCCACAGGGCTCCGTGAG	0.637																																						uc003xby.2		NA																	0					0						c.(316-318)GGC>AGC		PDZ and LIM domain 2 isoform 2							69.0	70.0	69.0					8																	22442530		2203	4300	6503	SO:0001630	splice_region_variant	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22442530G>A	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.316-1G>A	8.37:g.22442530G>A						PDLIM2_uc003xbx.1_Missense_Mutation_p.G106S|PDLIM2_uc003xbz.2_Missense_Mutation_p.G106S|PDLIM2_uc003xca.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcb.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcc.1_Missense_Mutation_p.G106S	p.G106S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	5	716	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	106					D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.316G>A		.	.	.	.	.	.	.	.	.	.	G	12.19	1.864865	0.32977	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.4	2.18	0.27775	.	0.723893	0.12888	N	0.430870	T	0.08179	0.0204	L	0.38838	1.175	0.33561	D	0.597383	B;B;B;B	0.27351	0.041;0.176;0.006;0.03	B;B;B;B	0.21917	0.027;0.037;0.005;0.008	T	0.21999	-1.0229	9	.	.	.	-16.3995	8.0056	0.30323	0.2988:0.0:0.7012:0.0	.	106;106;106;106	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	S	106;356;106;106;106;106;106;106;106;106;106;106;106	ENSP00000401992:G106S;ENSP00000312634:G356S;ENSP00000394376:G106S;ENSP00000380867:G106S;ENSP00000342035:G106S;ENSP00000380868:G106S;ENSP00000397738:G106S;ENSP00000392920:G106S;ENSP00000407643:G106S;ENSP00000386868:G106S;ENSP00000265810:G106S;ENSP00000387084:G106S	.	G	+	1	0	PDLIM2	22498475	1.000000	0.71417	0.999000	0.59377	0.314000	0.28054	2.577000	0.46042	0.668000	0.31126	0.561000	0.74099	GGC		0.637	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1		Missense_Mutation	88	127	0	0	0	0	88	127				
DPYSL2	1808	broad.mit.edu	37	8	26501563	26501563	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:26501563A>T	ENST00000311151.5	+	10	1478	c.1066A>T	c.(1066-1068)Aat>Tat	p.N356Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.N320Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.N320Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	356					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGAGGGCACCAATGGCACTGA	0.577																																						uc003xfb.1		NA																	0				large_intestine(1)	1						c.(1066-1068)AAT>TAT		dihydropyrimidinase-like 2							116.0	90.0	99.0					8																	26501563		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26501563A>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1066A>T	8.37:g.26501563A>T	ENSP00000309539:p.Asn356Tyr					DPYSL2_uc003xfa.2_Missense_Mutation_p.N461Y|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.N320Y	p.N356Y	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	10	1416	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	356					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.1066A>T	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812319	0.90707	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.32	5.32	0.75619	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97308	0.9935	10	0.87932	D	0	-28.8034	15.4372	0.75155	1.0:0.0:0.0:0.0	.	356;412	Q16555;Q59GB4	DPYL2_HUMAN;.	Y	320;356;356;320	ENSP00000427985:N320Y;ENSP00000309539:N356Y;ENSP00000428909:N356Y;ENSP00000431117:N320Y	ENSP00000309539:N356Y	N	+	1	0	DPYSL2	26557480	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.123000	0.94387	2.235000	0.73313	0.334000	0.21626	AAT		0.577	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		28	47	0	0	0	0	28	47				
UNC5D	137970	broad.mit.edu	37	8	35588529	35588529	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:35588529G>A	ENST00000404895.2	+	11	2009		c.e11-1		UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000287272.2_Splice_Site|UNC5D_ENST00000449677.1_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCTGTTTTAGGGGTGAGCTT	0.423																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.e11-1		unc-5 homolog D precursor							94.0	93.0	94.0					8																	35588529		2203	4300	6503	SO:0001630	splice_region_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35588529G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1682-1G>A	8.37:g.35588529G>A						UNC5D_uc003xjs.1_Splice_Site_p.G556_splice|UNC5D_uc003xju.1_Splice_Site_p.G137_splice	p.G561_splice	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	11	2010	+								Q8WYP7	Splice_Site	SNP	ENST00000404895.2	37	c.1682_splice	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024562	0.35701	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2119	0.89873	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5D	35708071	1.000000	0.71417	0.997000	0.53966	0.030000	0.12068	8.934000	0.92915	2.746000	0.94184	0.655000	0.94253	.		0.423	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		Intron	40	41	0	0	0	0	40	41				
ADAM2	2515	broad.mit.edu	37	8	39613295	39613295	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:39613295G>T	ENST00000265708.4	-	16	1852	c.1749C>A	c.(1747-1749)gaC>gaA	p.D583E	ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Missense_Mutation_p.D564E|ADAM2_ENST00000379853.2_Missense_Mutation_p.D427E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	583	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTTGGCTGTCTGCATGAT	0.348																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1747-1749)GAC>GAA		ADAM metallopeptidase domain 2 proprotein							95.0	92.0	93.0					8																	39613295		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613295G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1749C>A	8.37:g.39613295G>T	ENSP00000265708:p.Asp583Glu					ADAM2_uc003xnk.2_Missense_Mutation_p.D564E|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.D427E	p.D583E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1824	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	583			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1749C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.864389	0.00064	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.21543	2.0;4.4;2.0	4.67	-9.34	0.00636	ADAM, cysteine-rich (2);	.	.	.	.	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.18263	0.007;0.012;0.021	T	0.38478	-0.9659	8	.	.	.	.	0.9199	0.01312	0.282:0.3108:0.1705:0.2367	.	427;564;583	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	E	564;427;583	ENSP00000343854:D564E;ENSP00000369182:D427E;ENSP00000265708:D583E	.	D	-	3	2	ADAM2	39732452	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.811000	0.00183	-6.418000	0.00004	-1.193000	0.01689	GAC		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		39	61	1	0	1.91e-15	2.35e-15	39	61				
SLC20A2	6575	broad.mit.edu	37	8	42294989	42294989	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:42294989C>A	ENST00000342228.3	-	8	1410	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	SLC20A2_ENST00000520179.1_Silent_p.V347V|SLC20A2_ENST00000520262.1_Silent_p.V347V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	347					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTCTTTGTGCACGGTGTGGT	0.592																																						uc010lxl.2		NA																	0				ovary(2)	2						c.(1039-1041)GTG>GTT		solute carrier family 20, member 2							95.0	92.0	93.0					8																	42294989		2203	4300	6503	SO:0001819	synonymous_variant	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42294989C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1041G>T	8.37:g.42294989C>A						SLC20A2_uc010lxm.2_Silent_p.V347V|SLC20A2_uc003xpe.2_Silent_p.V347V|SLC20A2_uc011lcu.1_Silent_p.V149V	p.V347V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		8	1735	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	347			Cytoplasmic (Potential).			Silent	SNP	ENST00000342228.3	37	c.1041G>T	CCDS6132.1																																																																																				0.592	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			87	120	1	0	8.56e-49	1.28e-48	87	120				
RP1	6101	broad.mit.edu	37	8	55540694	55540694	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:55540694G>T	ENST00000220676.1	+	4	4400	c.4252G>T	c.(4252-4254)Gat>Tat	p.D1418Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1418					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGTTCTCTAGATGATTTTGA	0.358																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(4252-4254)GAT>TAT		retinitis pigmentosa RP1 protein							51.0	55.0	54.0					8																	55540694		2199	4298	6497	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540694G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4252G>T	8.37:g.55540694G>T	ENSP00000220676:p.Asp1418Tyr					RP1_uc011ldy.1_Intron	p.D1418Y	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4400	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1418						Missense_Mutation	SNP	ENST00000220676.1	37	c.4252G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	4.721	0.133995	0.09032	.	.	ENSG00000104237	ENST00000220676	T	0.22134	1.97	5.48	3.55	0.40652	.	1.467820	0.04162	N	0.323152	T	0.14098	0.0341	N	0.24115	0.695	0.09310	N	1	P	0.41265	0.744	B	0.33960	0.173	T	0.18745	-1.0327	10	0.66056	D	0.02	.	4.8909	0.13726	0.1662:0.3935:0.4403:0.0	.	1418	P56715	RP1_HUMAN	Y	1418	ENSP00000220676:D1418Y	ENSP00000220676:D1418Y	D	+	1	0	RP1	55703247	0.000000	0.05858	0.006000	0.13384	0.113000	0.19764	-0.066000	0.11598	1.275000	0.44379	0.655000	0.94253	GAT		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		50	93	1	0	1.61e-24	2.16e-24	50	93				
ZFHX4	79776	broad.mit.edu	37	8	77618582	77618582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:77618582C>A	ENST00000521891.2	+	2	2707	c.2259C>A	c.(2257-2259)tgC>tgA	p.C753*	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C753*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGTGGCTGCGGAACACCCT	0.527										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2257-2259)TGC>TGA		zinc finger homeodomain 4							37.0	42.0	40.0					8																	77618582		2100	4258	6358	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618582C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2259C>A	8.37:g.77618582C>A	ENSP00000430497:p.Cys753*	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Nonsense_Mutation_p.C753*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.C753*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.C753*	p.C753*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2646	+			753					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.2259C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917322	0.92249	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.1	-5.43	0.02632	.	0.000000	0.48767	U	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0713	0.80936	0.0:0.1515:0.0:0.8485	.	.	.	.	X	753	.	ENSP00000050961:C753X	C	+	3	2	ZFHX4	77781137	0.001000	0.12720	0.810000	0.32431	0.982000	0.71751	-1.473000	0.02339	-1.177000	0.02744	-0.781000	0.03364	TGC		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	19	1	0	0.000375601	0.000398754	21	19				
CNBD1	168975	broad.mit.edu	37	8	88363947	88363948	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:88363947_88363948GG>TT	ENST00000518476.1	+	9	1128_1129	c.1077_1078GG>TT	c.(1075-1080)gtGGgt>gtTTgt	p.G360C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	360										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTCTTTTGTGGGTTATATTAA	0.262																																						uc003ydy.2		NA																	0				ovary(3)	3						c.(1075-1080)GTGGGT>GTTTGT		cyclic nucleotide binding domain containing 1																																				SO:0001583	missense	168975							g.chr8:88363947_88363948GG>TT	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		Exception_encountered	8.37:g.88363947_88363948delinsTT	ENSP00000430073:p.Gly360Cys						p.G360C	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			9	1125_1126	+			360			cNMP.			Missense_Mutation	DNP	ENST00000518476.1	37	c.1077_1078GG>TT	CCDS55259.1																																																																																				0.262	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		5	8	0	0	0	0	5	8				
RUNX1T1	862	broad.mit.edu	37	8	92982970	92982970	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:92982970C>A	ENST00000523629.1	-	11	1909	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.K448N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.K485N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.K496N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	485					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCGCTCCATCTTGGCCCTCT	0.617																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1453-1455)AAG>AAT		acute myelogenous leukemia 1 translocation 1							85.0	70.0	75.0					8																	92982970		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92982970C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1455G>T	8.37:g.92982970C>A	ENSP00000428543:p.Lys485Asn					RUNX1T1_uc003yfc.1_Missense_Mutation_p.K458N|RUNX1T1_uc003yfe.1_Missense_Mutation_p.K448N|RUNX1T1_uc010mao.2_Missense_Mutation_p.K458N|RUNX1T1_uc011lgi.1_Missense_Mutation_p.K496N|RUNX1T1_uc010man.1_Missense_Mutation_p.K110N|RUNX1T1_uc003yfb.1_Missense_Mutation_p.K448N	p.K485N	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1539	-			485					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1455G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492284	0.84962	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.81239	2.535	0.58432	D	0.999997	D;D;D;D	0.89917	0.997;1.0;0.996;0.999	D;D;P;D	0.87578	0.964;0.998;0.889;0.991	T	0.68161	-0.5482	10	0.54805	T	0.06	-22.1044	12.2126	0.54388	0.0:0.8613:0.0:0.1387	.	496;448;485;458	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	N	485;458;485;448;448;448;496;458	ENSP00000428543:K485N;ENSP00000379520:K458N;ENSP00000265814:K485N;ENSP00000353504:K448N;ENSP00000390137:K448N;ENSP00000428742:K448N;ENSP00000402257:K496N;ENSP00000430728:K458N	ENSP00000265814:K485N	K	-	3	2	RUNX1T1	93052146	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.290000	0.33319	1.416000	0.47057	0.655000	0.94253	AAG		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		43	64	1	0	3.55e-21	4.6e-21	43	64				
VPS13B	157680	broad.mit.edu	37	8	100866327	100866327	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:100866327G>A	ENST00000358544.2	+	56	10896	c.10785G>A	c.(10783-10785)ttG>ttA	p.L3595L	VPS13B_ENST00000357162.2_Silent_p.L3570L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3595					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGTAAATTTGCTCGTCAGCA	0.542																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10783-10785)TTG>TTA		vacuolar protein sorting 13B isoform 5							111.0	96.0	101.0					8																	100866327		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866327G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10785G>A	8.37:g.100866327G>A						VPS13B_uc003yiw.2_Silent_p.L3570L	p.L3595L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10896	+	Breast(36;3.73e-07)		3595					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10785G>A	CCDS6280.1																																																																																				0.542	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	46	0	0	0	0	39	46				
DCSTAMP	81501	broad.mit.edu	37	8	105361622	105361622	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:105361622C>G	ENST00000297581.2	+	2	891	c.842C>G	c.(841-843)cCg>cGg	p.P281R	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	281					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GTCATCATCCCGACTTTCTGG	0.478																																						uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(841-843)CCG>CGG		dendritic cell-specific transmembrane protein							99.0	103.0	102.0					8																	105361622		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361622C>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.842C>G	8.37:g.105361622C>G	ENSP00000297581:p.Pro281Arg						p.P281R	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	891	+			281					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.842C>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863020	0.32884	.	.	ENSG00000164935	ENST00000297581	T	0.28454	1.61	5.5	5.5	0.81552	Dendritic cell-specific transmembrane protein-like (1);	0.168789	0.52532	D	0.000065	T	0.59390	0.2190	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60890	-0.7173	9	.	.	.	-21.5808	17.5762	0.87950	0.0:1.0:0.0:0.0	.	281	Q9H295	TM7S4_HUMAN	R	281	ENSP00000297581:P281R	.	P	+	2	0	TM7SF4	105430798	0.994000	0.37717	0.282000	0.24776	0.166000	0.22503	3.708000	0.54845	2.590000	0.87494	0.555000	0.69702	CCG		0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		110	127	0	0	0	0	110	127				
PKHD1L1	93035	broad.mit.edu	37	8	110425733	110425733	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110425733C>T	ENST00000378402.5	+	21	2423	c.2319C>T	c.(2317-2319)agC>agT	p.S773S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	773					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACTAGAAGCACTGATACAC	0.289										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2317-2319)AGC>AGT		fibrocystin L precursor							102.0	94.0	97.0					8																	110425733		1838	4080	5918	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110425733C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2319C>T	8.37:g.110425733C>T		HNSCC(38;0.096)					p.S773S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		21	2423	+			773			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.2319C>T	CCDS47911.1																																																																																				0.289	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	4	0	0	0	0	7	4				
PKHD1L1	93035	broad.mit.edu	37	8	110474049	110474049	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110474049T>A	ENST00000378402.5	+	48	7399	c.7295T>A	c.(7294-7296)aTa>aAa	p.I2432K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2432					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAGAAGAAATAGGAAGTGAC	0.393										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7294-7296)ATA>AAA		fibrocystin L precursor							65.0	69.0	68.0					8																	110474049		2037	4205	6242	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110474049T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7295T>A	8.37:g.110474049T>A	ENSP00000367655:p.Ile2432Lys	HNSCC(38;0.096)					p.I2432K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7399	+			2432			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7295T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141365	0.57044	.	.	ENSG00000205038	ENST00000378402	D	0.86297	-2.1	5.64	4.49	0.54785	.	0.310463	0.33712	N	0.004640	D	0.82958	0.5150	L	0.59436	1.845	0.37367	D	0.911474	B	0.27823	0.19	B	0.20184	0.028	T	0.81642	-0.0840	10	0.56958	D	0.05	.	9.7037	0.40203	0.0:0.0817:0.0:0.9183	.	2432	Q86WI1	PKHL1_HUMAN	K	2432	ENSP00000367655:I2432K	ENSP00000367655:I2432K	I	+	2	0	PKHD1L1	110543225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.562000	0.45914	0.983000	0.38602	0.528000	0.53228	ATA		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		13	16	0	0	0	0	13	16				
KCNV1	27012	broad.mit.edu	37	8	110984922	110984922	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110984922G>T	ENST00000524391.1	-	3	1588	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	KCNV1_ENST00000297404.1_Missense_Mutation_p.Q186K|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	186					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAAGGTCCTTGGGAGAAGTCC	0.458																																						uc003ynr.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(556-558)CAA>AAA		potassium channel, subfamily V, member 1							132.0	124.0	127.0					8																	110984922		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984922G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.556C>A	8.37:g.110984922G>T	ENSP00000435954:p.Gln186Lys					KCNV1_uc010mcw.2_Missense_Mutation_p.Q186K	p.Q186K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	898	-	all_neural(195;0.219)		186			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.556C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	7.871	0.728107	0.15507	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.46	0.54185	.	0.215951	0.36034	N	0.002840	D	0.88749	0.6521	N	0.11064	0.09	0.22446	N	0.999092	B	0.25105	0.118	B	0.21151	0.033	T	0.77781	-0.2459	10	0.07175	T	0.84	.	4.7429	0.13022	0.0819:0.1626:0.6076:0.1479	.	186	Q6PIU1	KCNV1_HUMAN	K	186;186;62	ENSP00000435954:Q186K;ENSP00000297404:Q186K	ENSP00000297404:Q186K	Q	-	1	0	KCNV1	111054098	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	3.310000	0.51911	1.222000	0.43521	0.557000	0.71058	CAA		0.458	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		61	98	1	0	1.46e-30	2.03e-30	61	98				
CSMD3	114788	broad.mit.edu	37	8	113277643	113277643	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:113277643T>C	ENST00000297405.5	-	60	9929	c.9685A>G	c.(9685-9687)Aga>Gga	p.R3229G	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3189G|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3060G|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3159G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3229	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATACCTCTACAAGTTGGC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9685-9687)AGA>GGA		CUB and Sushi multiple domains 3 isoform 1							134.0	122.0	126.0					8																	113277643		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113277643T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9685A>G	8.37:g.113277643T>C	ENSP00000297405:p.Arg3229Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R2431G|CSMD3_uc003ynt.2_Missense_Mutation_p.R3189G|CSMD3_uc011lhx.1_Missense_Mutation_p.R3060G	p.R3229G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			60	9844	-			3229			Extracellular (Potential).|Sushi 24.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9685A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511618	0.27036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.44	4.24	0.50183	Complement control module (2);Sushi/SCR/CCP (1);	0.345140	0.28036	N	0.016851	T	0.22282	0.0537	L	0.39566	1.225	0.35692	D	0.814915	B;B;B	0.24317	0.016;0.034;0.101	B;B;B	0.25614	0.032;0.044;0.062	T	0.14392	-1.0474	10	0.33940	T	0.23	.	12.4982	0.55940	0.0:0.0:0.1398:0.8602	.	3060;3229;3189	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	3189;3229;2499;3060;3159	ENSP00000345799:R3189G;ENSP00000297405:R3229G;ENSP00000341558:R2499G;ENSP00000412263:R3060G;ENSP00000343124:R3159G	ENSP00000297405:R3229G	R	-	1	2	CSMD3	113346819	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	3.371000	0.52379	0.954000	0.37851	0.477000	0.44152	AGA		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		81	114	0	0	0	0	81	114				
ENPP2	5168	broad.mit.edu	37	8	120602744	120602744	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:120602744C>A	ENST00000075322.6	-	13	1266		c.e13+1		ENPP2_ENST00000522826.1_Splice_Site|ENPP2_ENST00000427067.2_Splice_Site|ENPP2_ENST00000259486.6_Splice_Site|ENPP2_ENST00000522167.1_Splice_Site	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATCAACTTACATTTAGCATT	0.333																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.e13+1		autotaxin isoform 2 preproprotein							67.0	65.0	66.0					8																	120602744		2203	4300	6503	SO:0001630	splice_region_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120602744C>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1207+1G>T	8.37:g.120602744C>A						ENPP2_uc003yor.1_Splice_Site_p.Y42_splice|ENPP2_uc003yos.1_Splice_Site_p.Y455_splice|ENPP2_uc010mdd.1_Splice_Site_p.Y403_splice	p.Y403_splice	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		13	1293	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)							A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Splice_Site	SNP	ENST00000075322.6	37	c.1207_splice	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299104	0.81025	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7534	0.96277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENPP2	120671925	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.398000	0.79919	2.673000	0.90976	0.650000	0.86243	.		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		Intron	29	39	1	0	7.38e-10	8.6e-10	29	39				
COL14A1	7373	broad.mit.edu	37	8	121240971	121240971	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:121240971A>T	ENST00000297848.3	+	18	2430	c.2160A>T	c.(2158-2160)ccA>ccT	p.P720P	COL14A1_ENST00000247781.3_Silent_p.P625P|COL14A1_ENST00000309791.4_Silent_p.P720P|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACAGAACCAGCTACAACCA	0.328																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2158-2160)CCA>CCT		collagen, type XIV, alpha 1 precursor							148.0	142.0	144.0					8																	121240971		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121240971A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2160A>T	8.37:g.121240971A>T						COL14A1_uc003yoy.2_Silent_p.P398P	p.P720P	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		18	2425	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		720						Silent	SNP	ENST00000297848.3	37	c.2160A>T	CCDS34938.1																																																																																				0.328	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		62	91	0	0	0	0	62	91				
EFR3A	23167	broad.mit.edu	37	8	132971846	132971846	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:132971846A>G	ENST00000254624.5	+	8	1016	c.791A>G	c.(790-792)cAc>cGc	p.H264R	EFR3A_ENST00000519656.1_Missense_Mutation_p.H228R|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	264						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTAGATCATCACAAACTGTGG	0.279																																						uc003yte.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(790-792)CAC>CGC		EFR3 homolog A							57.0	62.0	60.0					8																	132971846		2202	4288	6490	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132971846A>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.791A>G	8.37:g.132971846A>G	ENSP00000254624:p.His264Arg						p.H264R	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		8	992	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		264					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.791A>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253632	0.80135	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.67698	3.5;3.5;-0.28	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.81112	2.525	0.80722	D	1	P	0.49559	0.925	P	0.53760	0.734	T	0.81984	-0.0682	10	0.87932	D	0	-17.2853	15.054	0.71897	1.0:0.0:0.0:0.0	.	264	Q14156	EFR3A_HUMAN	R	264;264;264;228	ENSP00000254624:H264R;ENSP00000334769:H264R;ENSP00000428086:H228R	ENSP00000254624:H264R	H	+	2	0	EFR3A	133041028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.681000	0.91228	2.158000	0.67659	0.528000	0.53228	CAC		0.279	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		40	69	0	0	0	0	40	69				
ZFAT	57623	broad.mit.edu	37	8	135612791	135612791	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:135612791T>C	ENST00000377838.3	-	7	2537	c.2363A>G	c.(2362-2364)cAc>cGc	p.H788R	ZFAT_ENST00000520356.1_Missense_Mutation_p.H776R|ZFAT_ENST00000429442.2_Missense_Mutation_p.H776R|ZFAT_ENST00000523399.1_Missense_Mutation_p.H726R|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.H776R|ZFAT_ENST00000520214.1_Missense_Mutation_p.H776R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	788					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAATTACGTGGCGTTTAAG	0.428																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(2362-2364)CAC>CGC		zinc finger protein 406 isoform ZFAT-1							151.0	148.0	149.0					8																	135612791		1970	4155	6125	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612791T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2363A>G	8.37:g.135612791T>C	ENSP00000367069:p.His788Arg					ZFAT_uc003yun.2_Missense_Mutation_p.H776R|ZFAT_uc003yuo.2_Missense_Mutation_p.H776R|ZFAT_uc010meh.2_Missense_Mutation_p.H776R|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.H776R|ZFAT_uc010mej.2_Missense_Mutation_p.H726R|ZFAT_uc003yur.2_Missense_Mutation_p.H776R|ZFATAS_uc003yus.1_RNA	p.H788R	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2538	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		788			C2H2-type 11.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2363A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455928	0.84209	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.989;0.985;0.999;0.966	D	0.85440	0.1154	10	0.87932	D	0	-22.9945	14.9503	0.71067	0.0:0.0:0.0:1.0	.	726;776;776;788	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	R	776;776;776;788;776;675;726;776	ENSP00000427879:H776R;ENSP00000427831:H776R;ENSP00000394501:H776R;ENSP00000367069:H788R;ENSP00000428483:H776R;ENSP00000429091:H726R	ENSP00000326997:H675R	H	-	2	0	ZFAT	135681973	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.997000	0.88414	2.189000	0.69895	0.533000	0.62120	CAC		0.428	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		90	151	0	0	0	0	90	151				
FAM135B	51059	broad.mit.edu	37	8	139180143	139180143	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139180143G>T	ENST00000395297.1	-	12	1423	c.1253C>A	c.(1252-1254)gCg>gAg	p.A418E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	418										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAACCTGTCGCAGGGCAGTC	0.507										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1252-1254)GCG>GAG		hypothetical protein LOC51059							90.0	91.0	91.0					8																	139180143		1990	4167	6157	SO:0001583	missense	51059							g.chr8:139180143G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1253C>A	8.37:g.139180143G>T	ENSP00000378710:p.Ala418Glu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A319E|FAM135B_uc003yuz.2_RNA	p.A418E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1424	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		418					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1253C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551372	0.27739	.	.	ENSG00000147724	ENST00000395297	T	0.13420	2.59	5.78	-3.51	0.04696	.	0.825771	0.11229	N	0.585892	T	0.06781	0.0173	L	0.31207	0.915	0.09310	N	1	B	0.29341	0.242	B	0.29524	0.103	T	0.36187	-0.9758	10	0.30078	T	0.28	-2.7221	0.8297	0.01128	0.35:0.2011:0.2792:0.1697	.	418	Q49AJ0	F135B_HUMAN	E	418	ENSP00000378710:A418E	ENSP00000276737:A418E	A	-	2	0	FAM135B	139249325	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.297000	0.08276	-0.228000	0.09869	-0.211000	0.12701	GCG		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		91	114	1	0	1.37e-43	2.02e-43	91	114				
COL22A1	169044	broad.mit.edu	37	8	139638470	139638470	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139638470G>T	ENST00000303045.6	-	51	4126	c.3680C>A	c.(3679-3681)cCt>cAt	p.P1227H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1207H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1227	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGGGGCCAGGAGGGCCTTC	0.403										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3679-3681)CCT>CAT		collagen, type XXII, alpha 1							59.0	63.0	62.0					8																	139638470		2202	4300	6502	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139638470G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3680C>A	8.37:g.139638470G>T	ENSP00000303153:p.Pro1227His	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P507H	p.P1227H	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		51	4127	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1227			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3680C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468192	0.43839	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98701	-5.08;-5.08	4.78	4.78	0.61160	.	0.000000	0.46758	U	0.000262	D	0.98861	0.9615	M	0.78801	2.425	0.35120	D	0.766977	D;D	0.76494	0.999;0.998	D;P	0.66979	0.948;0.888	D	0.99962	1.1750	10	0.72032	D	0.01	.	13.5463	0.61707	0.0:0.0:1.0:0.0	.	1207;1227	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	1227;1207;920	ENSP00000303153:P1227H;ENSP00000387655:P1207H	ENSP00000303153:P1227H	P	-	2	0	COL22A1	139707652	1.000000	0.71417	0.991000	0.47740	0.794000	0.44872	3.109000	0.50345	2.652000	0.90054	0.655000	0.94253	CCT		0.403	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		33	78	1	0	1.04e-10	1.24e-10	33	78				
COL22A1	169044	broad.mit.edu	37	8	139642958	139642958	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139642958G>A	ENST00000303045.6	-	50	4089	c.3643C>T	c.(3643-3645)Cca>Tca	p.P1215S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGATTCCTGGTGGTCCAGCA	0.478										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3643-3645)CCA>TCA		collagen, type XXII, alpha 1							142.0	140.0	141.0					8																	139642958		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139642958G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3643C>T	8.37:g.139642958G>A	ENSP00000303153:p.Pro1215Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P495S	p.P1215S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		50	4090	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1215			Pro-rich.|Gly-rich.|Collagen-like 11.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3643C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969461	0.53614	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96587	-4.06;-4.06	5.65	5.65	0.86999	.	0.136345	0.33438	N	0.004918	D	0.97074	0.9044	L	0.52126	1.63	0.44711	D	0.997707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95795	0.8828	10	0.35671	T	0.21	.	15.093	0.72211	0.0:0.0:1.0:0.0	.	1195;1215	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1215;1195;908	ENSP00000303153:P1215S;ENSP00000387655:P1195S	ENSP00000303153:P1215S	P	-	1	0	COL22A1	139712140	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	3.174000	0.50847	2.941000	0.99782	0.655000	0.94253	CCA		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		150	202	0	0	0	0	150	202				
SCRIB	23513	broad.mit.edu	37	8	144877207	144877207	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:144877207C>A	ENST00000320476.3	-	27	3853		c.e27+1		SCRIB_ENST00000356994.2_Splice_Site|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Splice_Site	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein						activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGCACTCACCCTCTGCACG	0.682																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.e27+1		scribble isoform b							23.0	27.0	25.0					8																	144877207		2193	4287	6480	SO:0001630	splice_region_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144877207C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3846+1G>T	8.37:g.144877207C>A						SCRIB_uc003yzn.1_Splice_Site|SCRIB_uc003yzo.1_Splice_Site_p.R1282_splice	p.R1282_splice	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		27	3853	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Splice_Site	SNP	ENST00000320476.3	37	c.3846_splice	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684555	0.14973	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000526832;ENST00000377533;ENST00000377539	.	.	.	3.82	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2293	0.48903	0.0:0.9019:0.0:0.0981	.	.	.	.	.	-1	.	.	.	-	.	.	SCRIB	144949195	0.822000	0.29219	0.537000	0.28052	0.142000	0.21351	1.019000	0.30014	1.839000	0.53478	0.555000	0.69702	.		0.682	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	Intron	21	37	1	0	1.64e-05	1.78e-05	21	37				
MFSD3	113655	broad.mit.edu	37	8	145739431	145739431	+	IGR	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:145739431G>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.R647S|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCAGTGCGGCGTGTGGCT	0.672																																						uc003zdj.2		NA								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(1939-1941)CGC>AGC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							13.0	18.0	17.0					8																	145739431		2104	4204	6308	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739431G>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739431G>T							p.R647S	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		12	1971	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		647			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000301327.4	37	c.1939C>A	CCDS6431.1																																																																																				0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		4	4	1	0	1.24e-05	1.35e-05	4	4				
MPDZ	8777	broad.mit.edu	37	9	13196141	13196141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:13196141C>T	ENST00000319217.7	-	13	1882	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	MPDZ_ENST00000447879.1_Missense_Mutation_p.M545I|MPDZ_ENST00000536827.1_Missense_Mutation_p.M545I|MPDZ_ENST00000541718.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M545I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M545I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M545I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	545					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTAATTCCCATAATCCTTT	0.383																																						uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1633-1635)ATG>ATA		multiple PDZ domain protein							173.0	153.0	159.0					9																	13196141		1875	4105	5980	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13196141C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1635G>A	9.37:g.13196141C>T	ENSP00000320006:p.Met545Ile					MPDZ_uc010mhy.2_Missense_Mutation_p.M545I|MPDZ_uc010mhz.2_Missense_Mutation_p.M545I|MPDZ_uc011lmn.1_Missense_Mutation_p.M545I|MPDZ_uc003zlb.3_Missense_Mutation_p.M545I	p.M545I	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	12	1692	-			545					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1635G>A		.	.	.	.	.	.	.	.	.	.	C	16.55	3.154235	0.57259	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.09911	2.98;2.93;2.93;2.93;2.97;2.98;2.98	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000040	T	0.10423	0.0255	L	0.29908	0.895	0.80722	D	1	B;P;P	0.34615	0.329;0.459;0.459	B;B;B	0.33960	0.084;0.173;0.173	T	0.18116	-1.0347	10	0.33141	T	0.24	.	17.5265	0.87802	0.0:1.0:0.0:0.0	.	545;545;545	B7ZMI4;O75970-3;O75970-2	.;.;.	I	545	ENSP00000320006:M545I;ENSP00000439807:M545I;ENSP00000370410:M545I;ENSP00000444151:M545I;ENSP00000415208:M545I;ENSP00000370403:M545I;ENSP00000446358:M545I	ENSP00000320006:M545I	M	-	3	0	MPDZ	13186141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.853000	0.55941	2.560000	0.86352	0.563000	0.77884	ATG		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		11	3	0	0	0	0	11	3				
TLN1	7094	broad.mit.edu	37	9	35717418	35717418	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:35717418C>A	ENST00000314888.9	-	19	2536	c.2183G>T	c.(2182-2184)aGc>aTc	p.S728I	TLN1_ENST00000540444.1_Missense_Mutation_p.S728I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	728					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAGGTGAGCTGATTGTAGG	0.557																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2182-2184)AGC>ATC		talin 1							69.0	63.0	65.0					9																	35717418		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35717418C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2183G>T	9.37:g.35717418C>A	ENSP00000316029:p.Ser728Ile						p.S728I	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		19	2537	-	all_epithelial(49;0.167)		728					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2183G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498219	0.85069	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69685	-0.42;-0.42	5.6	5.6	0.85130	.	0.082774	0.85682	D	0.000000	T	0.73938	0.3651	M	0.77616	2.38	0.80722	D	1	P	0.51933	0.949	P	0.46825	0.528	T	0.74080	-0.3780	10	0.33940	T	0.23	-16.1517	19.6023	0.95568	0.0:1.0:0.0:0.0	.	728	Q9Y490	TLN1_HUMAN	I	728	ENSP00000316029:S728I;ENSP00000442981:S728I	ENSP00000316029:S728I	S	-	2	0	TLN1	35707418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.653000	0.90120	0.561000	0.74099	AGC		0.557	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		68	25	1	0	9.54e-23	1.26e-22	68	25				
ZNF658	26149	broad.mit.edu	37	9	40774556	40774556	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:40774556T>C	ENST00000602553.1	-	5	1013	c.719A>G	c.(718-720)gAa>gGa	p.E240G	ZNF658_ENST00000377626.3_Missense_Mutation_p.E240G|ZNF658_ENST00000441795.1_Missense_Mutation_p.E238G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	240					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGGACTTTTCTCCTGTTAG	0.323																																						uc004abs.2		NA																	0				ovary(1)	1						c.(718-720)GAA>GGA		zinc finger protein 658							48.0	52.0	50.0					9																	40774556		2200	4298	6498	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774556T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.719A>G	9.37:g.40774556T>C	ENSP00000473484:p.Glu240Gly					ZNF658_uc010mmm.1_Missense_Mutation_p.E240G|ZNF658_uc010mmn.1_Missense_Mutation_p.E240G	p.E240G	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	871	-			240					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.719A>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	9.184	1.024336	0.19433	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.06449	3.45;3.3	1.81	-1.65	0.08291	.	.	.	.	.	T	0.06781	0.0173	L	0.56340	1.77	0.22001	N	0.999425	B;B	0.17667	0.023;0.002	B;B	0.14023	0.01;0.003	T	0.34179	-0.9839	9	0.66056	D	0.02	.	6.0483	0.19772	0.0:0.5071:0.0:0.4929	.	240;240	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	G	238;240	ENSP00000408462:E238G;ENSP00000366853:E240G	ENSP00000366853:E240G	E	-	2	0	ZNF658	40764556	0.001000	0.12720	0.000000	0.03702	0.204000	0.24138	0.983000	0.29552	-0.395000	0.07715	0.321000	0.21382	GAA		0.323	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		74	87	0	0	0	0	74	87				
SPATA31A6	389730	broad.mit.edu	37	9	43630658	43630658	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:43630658G>A	ENST00000332857.6	-	1	72	c.44C>T	c.(43-45)tCg>tTg	p.S15L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	15					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCGTTTAGCGATGAGGCACT	0.488																																						uc011lrb.1		NA																	0					0						c.(43-45)TCG>TTG		hypothetical protein LOC389730																																				SO:0001583	missense	389730					integral to membrane		g.chr9:43630658G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.44C>T	9.37:g.43630658G>A	ENSP00000329825:p.Ser15Leu						p.S15L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			1	73	-			15						Missense_Mutation	SNP	ENST00000332857.6	37	c.44C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059855	0.19987	.	.	ENSG00000185775	ENST00000332857	T	0.03801	3.8	1.96	-1.77	0.07982	.	1.286040	0.05809	N	0.613711	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	P	0.36535	0.557	B	0.28011	0.085	T	0.40572	-0.9556	10	0.52906	T	0.07	0.4114	4.1256	0.10126	0.4433:0.3265:0.2303:0.0	.	15	Q5VVP1	F75A6_HUMAN	L	15	ENSP00000329825:S15L	ENSP00000329825:S15L	S	-	2	0	FAM75A6	43570654	0.008000	0.16893	0.027000	0.17364	0.169000	0.22640	-0.400000	0.07241	-0.424000	0.07382	0.184000	0.17185	TCG		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		80	25	0	0	0	0	80	25				
RORB	6096	broad.mit.edu	37	9	77257706	77257706	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:77257706A>G	ENST00000396204.2	+	4	645	c.645A>G	c.(643-645)gcA>gcG	p.A215A	RORB_ENST00000376896.3_Silent_p.A204A			Q92753	RORB_HUMAN	RAR-related orphan receptor B	215	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGCAGTTAGCACCAGGGATAA	0.408																																						uc004aji.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(643-645)GCA>GCG		RAR-related orphan receptor B							70.0	68.0	69.0					9																	77257706		2201	4298	6499	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257706A>G	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.645A>G	9.37:g.77257706A>G						RORB_uc004ajh.2_Silent_p.A204A	p.A215A	NM_006914	NP_008845	Q92753	RORB_HUMAN			4	694	+			215			Hinge (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.645A>G																																																																																					0.408	RORB-201	KNOWN	basic	protein_coding	protein_coding				47	70	0	0	0	0	47	70				
SPATA31E1	286234	broad.mit.edu	37	9	90502556	90502556	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:90502556A>C	ENST00000325643.5	+	4	3220	c.3154A>C	c.(3154-3156)Agt>Cgt	p.S1052R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1052					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGGGAGCCAGTGTGAGGGC	0.592																																						uc004app.3		NA																	0				ovary(3)	3						c.(3154-3156)AGT>CGT		chromosome 9 open reading frame 79							84.0	83.0	83.0					9																	90502556		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502556A>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3154A>C	9.37:g.90502556A>C	ENSP00000322640:p.Ser1052Arg						p.S1052R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3189	+			1052					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3154A>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	11.45	1.642101	0.29157	.	.	ENSG00000177992	ENST00000325643	T	0.03889	3.77	2.91	0.382	0.16234	.	1.213800	0.06113	N	0.667562	T	0.04543	0.0124	L	0.32530	0.975	0.09310	N	1	P	0.42518	0.782	B	0.41813	0.367	T	0.36163	-0.9759	10	0.32370	T	0.25	.	2.3664	0.04320	0.6181:0.0:0.1418:0.24	.	1052	Q6ZUB1	CI079_HUMAN	R	1052	ENSP00000322640:S1052R	ENSP00000322640:S1052R	S	+	1	0	C9orf79	89692376	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.081000	0.11321	0.067000	0.16545	0.460000	0.39030	AGT		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		64	121	0	0	0	0	64	121				
SPATA31E1	286234	broad.mit.edu	37	9	90503213	90503213	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:90503213C>A	ENST00000325643.5	+	4	3877	c.3811C>A	c.(3811-3813)Cca>Aca	p.P1271T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1271					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGTCACCATCCACAGGGTCT	0.542																																						uc004app.3		NA																	0				ovary(3)	3						c.(3811-3813)CCA>ACA		chromosome 9 open reading frame 79							81.0	79.0	80.0					9																	90503213		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90503213C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3811C>A	9.37:g.90503213C>A	ENSP00000322640:p.Pro1271Thr						p.P1271T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3846	+			1271					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3811C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	6.991	0.552973	0.13374	.	.	ENSG00000177992	ENST00000325643	T	0.03330	3.97	2.29	-1.0	0.10196	.	1.834500	0.03529	N	0.222166	T	0.02848	0.0085	N	0.22421	0.69	0.09310	N	1	P	0.38597	0.639	B	0.36719	0.231	T	0.35871	-0.9771	10	0.29301	T	0.29	.	3.0098	0.06040	0.4708:0.3747:0.0:0.1545	.	1271	Q6ZUB1	CI079_HUMAN	T	1271	ENSP00000322640:P1271T	ENSP00000322640:P1271T	P	+	1	0	C9orf79	89693033	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.206000	0.09398	-0.245000	0.09625	0.655000	0.94253	CCA		0.542	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		31	73	1	0	1.08e-15	1.34e-15	31	73				
IARS	3376	broad.mit.edu	37	9	95050422	95050422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95050422G>T	ENST00000375643.3	-	3	528	c.262C>A	c.(262-264)Cat>Aat	p.H88N	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.H88N	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	88					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GGTAAGCCATGGCAATCCCAT	0.333																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(262-264)CAT>AAT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						113.0	101.0	105.0					9																	95050422		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050422G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.262C>A	9.37:g.95050422G>T	ENSP00000364794:p.His88Asn					IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.H88N|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	p.H88N	NM_013417	NP_038203	P41252	SYIC_HUMAN			3	519	-			88					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.262C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125216	0.94429	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	T;T;T	0.26957	1.7;1.7;1.7	6.08	6.08	0.98989	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	H	0.99944	5.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87721	0.2573	10	0.87932	D	0	-24.9417	20.2585	0.98435	0.0:0.0:1.0:0.0	.	88	P41252	SYIC_HUMAN	N	88	ENSP00000364794:H88N;ENSP00000406448:H88N;ENSP00000378922:H88N	ENSP00000364794:H88N	H	-	1	0	IARS	94090243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.809000	0.86057	2.894000	0.99253	0.655000	0.94253	CAT		0.333	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		62	71	1	0	9.5e-31	1.33e-30	62	71				
NOL8	55035	broad.mit.edu	37	9	95077690	95077690	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95077690G>C	ENST00000535387.1	-	6	1216	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C	NOL8_ENST00000358855.4_Missense_Mutation_p.S338C|NOL8_ENST00000542053.1_Missense_Mutation_p.S338C|NOL8_ENST00000545558.1_Missense_Mutation_p.S406C|NOL8_ENST00000442668.2_Missense_Mutation_p.S406C					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTCTTCGTAGATTTTTCCAT	0.328																																						uc004arv.2		NA																	0				ovary(1)	1						c.(1216-1218)TCT>TGT		nucleolar protein 8							30.0	25.0	27.0					9																	95077690		1803	4058	5861	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077690G>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1217C>G	9.37:g.95077690G>C	ENSP00000441300:p.Ser406Cys					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.S338C	p.S406C	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	1554	-			406						Missense_Mutation	SNP	ENST00000535387.1	37	c.1217C>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131172	0.21041	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.46819	2.44;2.44;2.44;2.66;2.44;2.17;0.86	5.39	4.49	0.54785	.	1.658090	0.02526	N	0.093026	T	0.42404	0.1201	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.32322	-0.9911	10	0.51188	T	0.08	0.7584	5.6856	0.17801	0.0795:0.1402:0.6352:0.1451	.	406	Q76FK4	NOL8_HUMAN	C	406;408;338;406;406;338;406;406	ENSP00000401177:S406C;ENSP00000351723:S338C;ENSP00000441140:S406C;ENSP00000441300:S406C;ENSP00000440709:S338C;ENSP00000414112:S406C;ENSP00000412471:S406C	ENSP00000351723:S338C	S	-	2	0	NOL8	94117511	0.014000	0.17966	0.008000	0.14137	0.659000	0.38960	1.806000	0.38892	1.267000	0.44247	0.609000	0.83330	TCT		0.328	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		17	17	0	0	0	0	17	17				
ZNF782	158431	broad.mit.edu	37	9	99580614	99580614	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:99580614C>G	ENST00000481138.1	-	6	2352	c.1691G>C	c.(1690-1692)tGt>tCt	p.C564S	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.C432S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACAATGATTACATTTATAGGG	0.413																																						uc004awp.1		NA																	0					0						c.(1690-1692)TGT>TCT		zinc finger protein 782							135.0	138.0	137.0					9																	99580614		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580614C>G	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1691G>C	9.37:g.99580614C>G	ENSP00000419397:p.Cys564Ser					ZNF782_uc011lup.1_Missense_Mutation_p.C432S	p.C564S	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1972	-		Acute lymphoblastic leukemia(62;0.0527)	564			C2H2-type 11.		B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1691G>C	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.04|15.04	2.715197|2.715197	0.48622|0.48622	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	D;D|.	0.85171|.	-1.95;-1.95|.	3.06|3.06	3.06|3.06	0.35304|0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.36444|.	N|.	0.002586|.	D|D	0.83353|0.83353	0.5236|0.5236	H|H	0.95950|0.95950	3.745|3.745	0.34424|0.34424	D|D	0.697815|0.697815	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.90559|0.90559	0.4514|0.4514	10|5	0.87932|.	D|.	0|.	.|.	12.3578|12.3578	0.55186|0.55186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	564|.	Q6ZMW2|.	ZN782_HUMAN|.	S|I	564;432|552	ENSP00000419397:C564S;ENSP00000440624:C432S|.	ENSP00000419397:C564S|.	C|M	-|-	2|3	0|0	ZNF782|ZNF782	98620435|98620435	1.000000|1.000000	0.71417|0.71417	0.474000|0.474000	0.27266|0.27266	0.966000|0.966000	0.64601|0.64601	4.810000|4.810000	0.62598|0.62598	2.009000|2.009000	0.58944|0.58944	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		156	254	0	0	0	0	156	254				
RAD23B	5887	broad.mit.edu	37	9	110086243	110086243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:110086243C>T	ENST00000358015.3	+	8	1241	c.890C>T	c.(889-891)tCc>tTc	p.S297F	RAD23B_ENST00000416373.2_Missense_Mutation_p.S225F	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	297	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGAATCCTTCCTTGCTTCCA	0.388								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.2		NA																	0				ovary(1)	1						c.(889-891)TCC>TTC	Direct_reversal_of_damage|NER	UV excision repair protein RAD23 homolog B							165.0	150.0	155.0					9																	110086243		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110086243C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.890C>T	9.37:g.110086243C>T	ENSP00000350708:p.Ser297Phe					RAD23B_uc011lwa.1_Missense_Mutation_p.S297F|RAD23B_uc011lwb.1_Missense_Mutation_p.S276F	p.S297F	NM_002874	NP_002865	P54727	RD23B_HUMAN			8	1257	+			297			STI1.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.890C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031709	0.93575	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18657	2.2;2.2	5.51	5.51	0.81932	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.099140	0.64402	D	0.000001	T	0.48624	0.1510	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.74674	0.977;0.978;0.984	T	0.44174	-0.9345	10	0.66056	D	0.02	-16.7954	19.7828	0.96424	0.0:1.0:0.0:0.0	.	276;297;297	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	F	297;225	ENSP00000350708:S297F;ENSP00000405623:S225F	ENSP00000350708:S297F	S	+	2	0	RAD23B	109126064	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.810000	0.55613	2.747000	0.94245	0.650000	0.86243	TCC		0.388	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		79	111	0	0	0	0	79	111				
AKAP2	11217	broad.mit.edu	37	9	112898848	112898848	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:112898848G>T	ENST00000259318.7	+	2	538	c.331G>T	c.(331-333)Gca>Tca	p.A111S	AKAP2_ENST00000374525.1_Missense_Mutation_p.A200S|AKAP2_ENST00000510514.5_Missense_Mutation_p.A342S|AKAP2_ENST00000555236.1_Missense_Mutation_p.A342S|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A342S|AKAP2_ENST00000434623.2_Missense_Mutation_p.A200S|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A342S	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	111										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TAGCCGGCAGGCACCTCCTCA	0.622																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1720-1722)GCA>TCA		A kinase (PRKA) anchor protein 2 isoform 2							54.0	51.0	52.0					9																	112898848		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898848G>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.331G>T	9.37:g.112898848G>T	ENSP00000259318:p.Ala111Ser					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A342S|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A342S|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A152S|AKAP2_uc011lwi.1_Missense_Mutation_p.A200S|AKAP2_uc004bem.2_Missense_Mutation_p.A200S|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A160S|AKAP2_uc011lwj.1_Missense_Mutation_p.A111S|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A111S	p.A574S	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1912	+			111					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1720G>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655168	0.14580	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.44482	2.25;2.25;2.25;2.25;1.5;0.92;0.92;1.52	6.17	0.927	0.19437	.	1.895880	0.01980	N	0.044704	T	0.41858	0.1177	L	0.47716	1.5	0.09310	N	1	B;P;B;P;P;B;B;B	0.40660	0.181;0.726;0.361;0.726;0.605;0.002;0.002;0.001	B;B;B;B;B;B;B;B	0.44315	0.046;0.446;0.107;0.446;0.26;0.004;0.004;0.002	T	0.20571	-1.0271	10	0.59425	D	0.04	1.082	2.8399	0.05526	0.1243:0.2276:0.4129:0.2352	.	111;200;194;200;201;342;342;160	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	S	342;342;342;342;200;200;160;111	ENSP00000363654:A342S;ENSP00000305861:A342S;ENSP00000451476:A342S;ENSP00000421522:A342S;ENSP00000404782:A200S;ENSP00000363649:A200S;ENSP00000419268:A160S;ENSP00000259318:A111S	ENSP00000259318:A111S	A	+	1	0	PALM2-AKAP2;AKAP2	111938669	0.105000	0.21958	0.001000	0.08648	0.077000	0.17291	0.704000	0.25661	0.153000	0.19213	0.655000	0.94253	GCA		0.622	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		58	66	1	0	1.31e-36	1.89e-36	58	66				
COL27A1	85301	broad.mit.edu	37	9	117050772	117050772	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117050772C>A	ENST00000356083.3	+	42	4416	c.4025C>A	c.(4024-4026)cCt>cAt	p.P1342H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1342	Collagen-like 12.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGGGGCCCCCTGGGCCACCT	0.662																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(4024-4026)CCT>CAT		collagen, type XXVII, alpha 1 precursor							31.0	33.0	32.0					9																	117050772		2203	4299	6502	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117050772C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4025C>A	9.37:g.117050772C>A	ENSP00000348385:p.Pro1342His					COL27A1_uc004bii.2_RNA	p.P1342H	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			42	4025	+			1342			Collagen-like 12.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4025C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465636	0.26335	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.95518	-3.73	4.72	3.8	0.43715	.	.	.	.	.	D	0.97592	0.9211	M	0.88570	2.965	0.46336	D	0.998992	D	0.76494	0.999	D	0.68039	0.955	D	0.97757	1.0218	9	0.62326	D	0.03	.	12.8377	0.57782	0.0:0.834:0.166:0.0	.	1342	Q8IZC6	CORA1_HUMAN	H	1342	ENSP00000348385:P1342H	ENSP00000348385:P1342H	P	+	2	0	COL27A1	116090593	0.977000	0.34250	0.872000	0.34217	0.370000	0.29829	2.567000	0.45956	1.081000	0.41110	-0.282000	0.10007	CCT		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		7	13	1	0	0.00448238	0.00463867	7	13				
TNC	3371	broad.mit.edu	37	9	117793913	117793913	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117793913G>T	ENST00000350763.4	-	23	6250	c.5839C>A	c.(5839-5841)Cca>Aca	p.P1947T	TNC_ENST00000341037.4_Missense_Mutation_p.P1765T|TNC_ENST00000345230.3_Missense_Mutation_p.P1310T|TNC_ENST00000423613.2_Missense_Mutation_p.P1674T|TNC_ENST00000535648.1_Missense_Mutation_p.P1492T|TNC_ENST00000340094.3_Missense_Mutation_p.P1583T|TNC_ENST00000542877.1_Missense_Mutation_p.P1584T|TNC_ENST00000537320.1_Missense_Mutation_p.P1310T|TNC_ENST00000346706.3_Missense_Mutation_p.P1401T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1947	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGGTGGATGGGCTCAGGTCT	0.512																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5839-5841)CCA>ACA		tenascin C precursor							202.0	175.0	184.0					9																	117793913		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117793913G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5839C>A	9.37:g.117793913G>T	ENSP00000265131:p.Pro1947Thr					TNC_uc010mvf.2_Missense_Mutation_p.P1674T	p.P1947T	NM_002160	NP_002151	P24821	TENA_HUMAN			23	6201	-			1947			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5839C>A	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.017307|4.017307	0.75161|0.75161	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|T;T;T;T;T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168090|0.168090	0.52532|0.52532	D|D	0.000062|0.000062	D|D	0.85539|0.85539	0.5720|0.5720	M|M	0.92507|0.92507	3.315|3.315	0.30674|0.30674	N|N	0.753026|0.753026	.|D;D	.|0.60160	.|0.987;0.987	.|D;D	.|0.67231	.|0.95;0.95	D|D	0.83518|0.83518	0.0084|0.0084	6|10	.|0.25106	.|T	.|0.35	.|.	20.2046|20.2046	0.98273|0.98273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1674;1947	.|E9PC84;P24821	.|.;TENA_HUMAN	H|T	509|1583;1492;1401;1310;1947;1019;1765;1674;1310;1584	.|ENSP00000344400:P1583T;ENSP00000438152:P1492T;ENSP00000344555:P1401T;ENSP00000345861:P1310T;ENSP00000265131:P1947T;ENSP00000339553:P1765T;ENSP00000411406:P1674T;ENSP00000443478:P1310T;ENSP00000442242:P1584T	.|ENSP00000344400:P1583T	P|P	-|-	2|1	0|0	TNC|TNC	116833734|116833734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	4.844000|4.844000	0.62846|0.62846	2.780000|2.780000	0.95670|0.95670	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		78	117	1	0	2.72e-29	3.77e-29	78	117				
TLR4	7099	broad.mit.edu	37	9	120476539	120476539	+	Missense_Mutation	SNP	C	C	A	rs56225594		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:120476539C>A	ENST00000355622.6	+	3	2234	c.2133C>A	c.(2131-2133)gaC>gaA	p.D711E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D671E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	711	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTACAGAGACTTTATTCCCG	0.473																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2131-2133)GAC>GAA		toll-like receptor 4 precursor							100.0	98.0	99.0					9																	120476539		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476539C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2133C>A	9.37:g.120476539C>A	ENSP00000363089:p.Asp711Glu					TLR4_uc004bka.2_Missense_Mutation_p.D671E|TLR4_uc004bkb.2_Missense_Mutation_p.D511E	p.D711E	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2424	+			711	D->K: Abolishes LPS-response.		Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2133C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562235	0.86335	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.19105	2.17;2.17	6.03	5.13	0.70059	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.87900	2.915	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.60047	-0.7339	10	0.87932	D	0	.	13.2555	0.60076	0.0:0.8688:0.0:0.1312	.	711	O00206	TLR4_HUMAN	E	671;711	ENSP00000377997:D671E;ENSP00000363089:D711E	ENSP00000363089:D711E	D	+	3	2	TLR4	119516360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.883000	0.56168	1.567000	0.49668	0.655000	0.94253	GAC		0.473	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		68	85	1	0	2.19e-23	2.91e-23	68	85				
BRINP1	1620	broad.mit.edu	37	9	121930238	121930238	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:121930238C>T	ENST00000265922.3	-	8	1871	c.1410G>A	c.(1408-1410)cgG>cgA	p.R470R	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	470					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											ACTGCTCGCTCCGCTCCGAGT	0.582																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1408-1410)CGG>CGA		deleted in bladder cancer 1 precursor							168.0	133.0	145.0					9																	121930238		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930238C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1410G>A	9.37:g.121930238C>T							p.R470R	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1866	-			470					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1410G>A	CCDS6822.1																																																																																				0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		29	62	0	0	0	0	29	62				
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Silent	SNP	G	G	A	rs538117168		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:136380685G>A	ENST00000339996.3	-	4	545	c.444C>T	c.(442-444)agC>agT	p.S148S	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18087	0.0		0.0	False		,,,				2504	0.001					uc011mdk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(442-444)AGC>AGT		transmembrane protein 8C							163.0	154.0	157.0					9																	136380685		2203	4300	6503	SO:0001819	synonymous_variant	389827					integral to membrane		g.chr9:136380685G>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.444C>T	9.37:g.136380685G>A							p.S148S	NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN			4	444	-			148						Silent	SNP	ENST00000339996.3	37	c.444C>T	CCDS35170.1																																																																																				0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		47	68	0	0	0	0	47	68				
CSF2RA	1438	broad.mit.edu	37	X	1407468	1407468	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1407468C>T	ENST00000381524.3	+	5	462	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CSF2RA_ENST00000381500.1_Silent_p.V92V|CSF2RA_ENST00000361536.3_Silent_p.V92V|CSF2RA_ENST00000381529.3_Silent_p.V92V|CSF2RA_ENST00000355432.3_Silent_p.V92V|CSF2RA_ENST00000417535.2_Silent_p.V92V|CSF2RA_ENST00000355805.2_Silent_p.V92V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.V92V|CSF2RA_ENST00000432318.2_Silent_p.V92V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	92					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATGAAGGAGTCACATTTGAGG	0.423																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NA																	0				ovary(2)	2						c.(274-276)GTC>GTT		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						366.0	337.0	347.0					X																	1407468		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407468C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.276C>T	X.37:g.1407468C>T						CSF2RA_uc011mhb.1_Silent_p.V92V|CSF2RA_uc004cpq.2_Silent_p.V92V|CSF2RA_uc004cpn.2_Silent_p.V92V|CSF2RA_uc004cpo.2_Silent_p.V92V|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.V92V|CSF2RA_uc010ncv.2_Silent_p.V92V|CSF2RA_uc004cpr.2_Silent_p.V92V	p.V92V	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			6	598	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	92			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.276C>T	CCDS35191.1																																																																																				0.423	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			163	292	0	0	0	0	163	292				
IL3RA	3563	broad.mit.edu	37	X	1464240	1464240	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1464240G>C	ENST00000331035.4	+	3	445	c.96G>C	c.(94-96)atG>atC	p.M32I	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	32					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCTAAGGATGAAAGCAAAGG	0.443																																						uc004cps.2		NA																	0				skin(2)|lung(1)	3						c.(94-96)ATG>ATC		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						295.0	282.0	287.0					X																	1464240		2200	4296	6496	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464240G>C	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.96G>C	X.37:g.1464240G>C	ENSP00000327890:p.Met32Ile					IL3RA_uc011mhd.1_Intron	p.M32I	NM_002183	NP_002174	P26951	IL3RA_HUMAN			3	445	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	32			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.96G>C	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.362	-0.938788	0.02340	.	.	ENSG00000185291	ENST00000331035	T	0.26518	1.73	1.32	-1.18	0.09617	.	0.406771	0.16437	N	0.214461	T	0.10035	0.0246	N	0.12182	0.205	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.19877	-1.0292	10	0.29301	T	0.29	-14.3949	2.0034	0.03472	0.2412:0.0:0.4604:0.2983	.	32	P26951	IL3RA_HUMAN	I	32	ENSP00000327890:M32I	ENSP00000327890:M32I	M	+	3	0	IL3RA	1424240	0.005000	0.15991	0.028000	0.17463	0.023000	0.10783	-0.293000	0.08320	-1.057000	0.03201	-1.368000	0.01194	ATG		0.443	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			5	353	0	0	0	0	5	353				
NLGN4X	57502	broad.mit.edu	37	X	6069249	6069249	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:6069249G>T	ENST00000381095.3	-	2	886	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.R87R|NLGN4X_ENST00000538097.1_Silent_p.R87R|NLGN4X_ENST00000381093.2_Silent_p.R87R|NLGN4X_ENST00000381092.1_Silent_p.R87R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	87					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTGAAACCGCCTCTCTCCA	0.572																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(259-261)CGG>AGG		X-linked neuroligin 4 precursor							67.0	62.0	64.0					X																	6069249		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069249G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.259C>A	X.37:g.6069249G>T						NLGN4X_uc004crp.2_Silent_p.R87R|NLGN4X_uc004crq.2_Silent_p.R87R|NLGN4X_uc010ndi.2_Silent_p.R87R|NLGN4X_uc004crr.2_Silent_p.R87R|NLGN4X_uc010ndj.2_Silent_p.R87R	p.R87R	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	760	-			87			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.259C>A	CCDS14126.1																																																																																				0.572	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		75	12	1	0	6.21e-33	8.77e-33	75	12				
MAGEB4	4115	broad.mit.edu	37	X	30260672	30260672	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:30260672C>T	ENST00000378982.2	+	1	616	c.420C>T	c.(418-420)agC>agT	p.S140S	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	140	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGATCATCAGCAAAAAGTACA	0.473																																						uc004dcb.2		NA																	0				ovary(1)	1						c.(418-420)AGC>AGT		melanoma antigen family B, 4							57.0	43.0	48.0					X																	30260672		2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30260672C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.420C>T	X.37:g.30260672C>T						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.S140S	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	504	+			140			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.420C>T	CCDS14221.1																																																																																				0.473	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		25	3	0	0	0	0	25	3				
DMD	1756	broad.mit.edu	37	X	31893375	31893375	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:31893375C>G	ENST00000357033.4	-	48	7234	c.7028G>C	c.(7027-7029)tGg>tCg	p.W2343S	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.W2339S|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2343			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGAGATAACCACAGCAGCAG	0.368																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7027-7029)TGG>TCG		dystrophin Dp427m isoform							83.0	64.0	71.0					X																	31893375		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31893375C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7028G>C	X.37:g.31893375C>G	ENSP00000354923:p.Trp2343Ser					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.W999S|DMD_uc004dcx.2_Missense_Mutation_p.W1002S|DMD_uc004dcz.2_Missense_Mutation_p.W2220S|DMD_uc004dcy.1_Missense_Mutation_p.W2339S|DMD_uc004ddb.1_Missense_Mutation_p.W2335S|DMD_uc010ngn.1_RNA	p.W2343S	NM_004006	NP_003997	P11532	DMD_HUMAN			48	7272	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2343		Missing (in DMD).			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7028G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431591	0.62844	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.61510	0.1;1.43;1.43	5.18	5.18	0.71444	.	0.000000	0.35805	U	0.002973	T	0.65450	0.2692	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998	D;D;D;D;D	0.83275	0.996;0.991;0.991;0.987;0.987	T	0.68055	-0.5510	10	0.52906	T	0.07	.	16.2331	0.82357	0.0:1.0:0.0:0.0	.	2335;2343;2339;1002;999	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	2335;1002;999;39;2339;2343;2343;2220	ENSP00000350765:W39S;ENSP00000367948:W2339S;ENSP00000354923:W2343S	ENSP00000354923:W2343S	W	-	2	0	DMD	31803296	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.766000	0.62279	2.287000	0.76781	0.600000	0.82982	TGG		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		22	7	0	0	0	0	22	7				
FAM47C	442444	broad.mit.edu	37	X	37027498	37027498	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:37027498G>T	ENST00000358047.3	+	1	1067	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	339										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						CAAGACTCTGGTGTCCAGTCT	0.622																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(1015-1017)GTG>TTG		hypothetical protein LOC442444							78.0	73.0	75.0					X																	37027498		2202	4299	6501	SO:0001583	missense	442444							g.chrX:37027498G>T	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.1015G>T	X.37:g.37027498G>T	ENSP00000367913:p.Val339Leu						p.V339L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1029	+			339					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1015G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	8.158	0.788795	0.16258	.	.	ENSG00000198173	ENST00000358047	T	0.18960	2.18	0.95	0.95	0.19572	.	.	.	.	.	T	0.24236	0.0587	L	0.33485	1.01	0.09310	N	1	D	0.58268	0.982	P	0.62298	0.9	T	0.14671	-1.0464	9	0.25106	T	0.35	.	3.854	0.08967	0.3281:0.0:0.6719:0.0	.	339	Q5HY64	FA47C_HUMAN	L	339	ENSP00000367913:V339L	ENSP00000367913:V339L	V	+	1	0	FAM47C	36937419	0.002000	0.14202	0.016000	0.15963	0.016000	0.09150	0.855000	0.27805	0.177000	0.19895	0.179000	0.17066	GTG		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		88	22	1	0	1.07e-62	1.63e-62	88	22				
WDR45	11152	broad.mit.edu	37	X	48933527	48933527	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:48933527C>G	ENST00000376372.3	-	7	695	c.514G>C	c.(514-516)Gtg>Ctg	p.V172L	PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000553851.1_Missense_Mutation_p.V70L|WDR45_ENST00000473974.1_Missense_Mutation_p.V172L|WDR45_ENST00000485908.1_Missense_Mutation_p.V137L|AF196779.12_ENST00000376358.3_Missense_Mutation_p.V70L|WDR45_ENST00000356463.3_Missense_Mutation_p.V173L|WDR45_ENST00000396681.4_Missense_Mutation_p.V172L|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.V173L|WDR45_ENST00000322995.8_Missense_Mutation_p.V183L|WDR45_ENST00000465431.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	172					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGGCTCACCACAAGTTGCAGA	0.597																																						uc004dmk.1		NA																	0				ovary(1)	1						c.(514-516)GTG>CTG		WD repeat domain 45 isoform 2							114.0	81.0	92.0					X																	48933527		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933527C>G	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.514G>C	X.37:g.48933527C>G	ENSP00000365551:p.Val172Leu					PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.V70L|WDR45_uc004dmj.1_Missense_Mutation_p.V133L|WDR45_uc004dml.1_Missense_Mutation_p.V173L|WDR45_uc004dmm.1_Missense_Mutation_p.V137L|WDR45_uc010nim.1_Missense_Mutation_p.V172L|WDR45_uc004dmn.1_Missense_Mutation_p.V63L|WDR45_uc004dmo.1_Missense_Mutation_p.V195L|WDR45_uc004dmp.1_Missense_Mutation_p.V173L	p.V172L	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			7	686	-			172					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.514G>C	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.964584|1.964584	0.34659|0.34659	.|.	.|.	ENSG00000196998|ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000367375|ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000376358	.|T;T;T;T;T;T;T;T;T;T;T;D;T	.|0.81739	.|2.37;0.61;0.61;0.61;0.77;0.61;0.61;0.61;2.37;0.61;0.61;-1.53;2.37	3.76|3.76	3.76|3.76	0.43208|0.43208	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.75287|0.75287	0.3829|0.3829	L|L	0.53617|0.53617	1.68|1.68	0.54753|0.54753	D|D	0.999983|0.999983	.|B;B;B;B;B;B	.|0.19331	.|0.035;0.001;0.002;0.001;0.0;0.031	.|B;B;B;B;B;B	.|0.18561	.|0.01;0.004;0.012;0.004;0.005;0.022	T|T	0.71494|0.71494	-0.4576|-0.4576	5|10	.|0.25106	.|T	.|0.35	-11.1955|-11.1955	14.37|14.37	0.66833|0.66833	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|70;172;183;137;173;172	.|A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.|.;.;.;.;.;WIPI4_HUMAN	S|L	128|70;172;183;173;137;172;173;172;105;138;197;190;70	.|ENSP00000451962:V70L;ENSP00000365551:V172L;ENSP00000365543:V183L;ENSP00000348848:V173L;ENSP00000419897:V137L;ENSP00000417211:V172L;ENSP00000365546:V173L;ENSP00000379913:V172L;ENSP00000418466:V105L;ENSP00000418919:V138L;ENSP00000420728:V197L;ENSP00000393640:V190L;ENSP00000365536:V70L	.|ENSP00000365536:V70L	C|V	-|-	2|1	0|0	WDR45|AF196779.12;WDR45	48820471|48820471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	7.272000|7.272000	0.78516|0.78516	1.814000|1.814000	0.52955|0.52955	0.409000|0.409000	0.27619|0.27619	TGT|GTG		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		31	3	0	0	0	0	31	3				
PAGE4	9506	broad.mit.edu	37	X	49597193	49597193	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:49597193G>T	ENST00000218068.6	+	4	311	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PAGE4_ENST00000376141.1_Missense_Mutation_p.G78C	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	78												Ovarian(276;0.236)					GCGTGGAGATGGCTCTGATGT	0.388																																						uc004don.1		NA																	0					0						c.(232-234)GGC>TGC		G antigen, family C, 1							102.0	82.0	89.0					X																	49597193		2203	4300	6503	SO:0001583	missense	9506							g.chrX:49597193G>T	AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"""G antigen, family C, 1"""	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.232G>T	X.37:g.49597193G>T	ENSP00000218068:p.Gly78Cys						p.G78C	NM_007003	NP_008934	O60829	GAGC1_HUMAN			4	311	+	Ovarian(276;0.236)		78					B2R529|D3DX68|Q6IBI1	Missense_Mutation	SNP	ENST00000218068.6	37	c.232G>T	CCDS35274.1	.	.	.	.	.	.	.	.	.	.	G	7.543	0.661047	0.14645	.	.	ENSG00000101951	ENST00000376141;ENST00000218068	T;T	0.19669	2.13;2.13	3.08	0.0749	0.14397	.	.	.	.	.	T	0.21921	0.0528	M	0.80183	2.485	0.09310	N	1	B	0.22346	0.068	B	0.21360	0.034	T	0.41662	-0.9496	9	0.87932	D	0	.	1.1902	0.01863	0.1421:0.2208:0.4082:0.2288	.	78	O60829	GAGC1_HUMAN	C	78	ENSP00000365311:G78C;ENSP00000218068:G78C	ENSP00000218068:G78C	G	+	1	0	PAGE4	49483931	0.614000	0.27017	0.000000	0.03702	0.008000	0.06430	0.529000	0.23019	-0.084000	0.12595	0.544000	0.68410	GGC		0.388	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060839.1			57	12	1	0	4.14e-29	5.71e-29	57	12				
WNK3	65267	broad.mit.edu	37	X	54359590	54359590	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:54359590C>A	ENST00000375159.2	-	1	516	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F	WNK3_ENST00000375169.3_Missense_Mutation_p.V173F|WNK3_ENST00000354646.2_Missense_Mutation_p.V173F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACCAAGCAACCTCAACCCAT	0.393																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(517-519)GTT>TTT		WNK lysine deficient protein kinase 3 isoform 2							124.0	116.0	118.0					X																	54359590		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359590C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.517G>T	X.37:g.54359590C>A	ENSP00000364301:p.Val173Phe					WNK3_uc004dtc.1_Missense_Mutation_p.V173F	p.V173F	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			2	956	-			173			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.517G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469558	0.84533	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70749	-0.51;-0.51;-0.51	5.4	5.4	0.78164	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	0.46145	D	0.000309	D	0.83562	0.5281	M	0.72576	2.205	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85450	0.1160	10	0.72032	D	0.01	-2.6997	16.9137	0.86146	0.0:1.0:0.0:0.0	.	173;173	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	173	ENSP00000364312:V173F;ENSP00000346667:V173F;ENSP00000364301:V173F	ENSP00000346667:V173F	V	-	1	0	WNK3	54376315	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.521000	0.81832	2.256000	0.74724	0.422000	0.28245	GTT		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		83	22	1	0	3.17e-35	4.53e-35	83	22				
MSN	4478	broad.mit.edu	37	X	64959590	64959590	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:64959590G>T	ENST00000360270.5	+	13	1741		c.e13-1			NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin						cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CATCCTCACAGGCCCTCACTT	0.483			T	ALK	ALCL																																	uc004dwf.2		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.e13-1		moesin							79.0	61.0	67.0					X																	64959590		2203	4300	6503	SO:0001630	splice_region_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64959590G>T	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1570-1G>T	X.37:g.64959590G>T							p.A524_splice	NM_002444	NP_002435	P26038	MOES_HUMAN			13	1768	+									Splice_Site	SNP	ENST00000360270.5	37	c.1570_splice	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239289	0.79800	.	.	ENSG00000147065	ENST00000360270	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.135	0.86737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSN	64876315	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.760000	0.98935	2.368000	0.80403	0.594000	0.82650	.		0.483	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	Intron	54	15	1	0	2.65e-33	3.74e-33	54	15				
EDA2R	60401	broad.mit.edu	37	X	65824895	65824895	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:65824895C>T	ENST00000374719.3	-	3	317	c.261G>A	c.(259-261)ttG>ttA	p.L87L	EDA2R_ENST00000253392.5_Silent_p.L87L|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Silent_p.L87L|EDA2R_ENST00000456230.2_Silent_p.L87L|EDA2R_ENST00000396050.1_Silent_p.L87L	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	87					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTCACCTGGGCAAACAGTCCC	0.488																																						uc004dwq.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(259-261)TTG>TTA		X-linked ectodysplasin receptor							81.0	53.0	62.0					X																	65824895		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824895C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.261G>A	X.37:g.65824895C>T						EDA2R_uc004dwr.2_Silent_p.L87L|EDA2R_uc004dws.2_Silent_p.L87L|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.L87L|EDA2R_uc004dwt.1_Silent_p.L87L	p.L87L	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN			2	272	-			87			TNFR-Cys 3.|Extracellular (Potential).		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.261G>A	CCDS14386.1																																																																																				0.488	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		10	2	0	0	0	0	10	2				
KIAA2022	340533	broad.mit.edu	37	X	73961161	73961161	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:73961161A>G	ENST00000055682.6	-	3	3842	c.3231T>C	c.(3229-3231)ccT>ccC	p.P1077P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1077					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGAAAGACTAGGGGTGTCCG	0.502																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3229-3231)CCT>CCC		hypothetical protein LOC340533							86.0	83.0	84.0					X																	73961161		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961161A>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3231T>C	X.37:g.73961161A>G							p.P1077P	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3848	-			1077					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.3231T>C	CCDS35337.1																																																																																				0.502	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		102	34	0	0	0	0	102	34				
RPS6KA6	27330	broad.mit.edu	37	X	83371245	83371245	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83371245C>T	ENST00000262752.2	-	12	1007	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D334N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	334	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACATCCCAGTCAATATTTGCA	0.249																																						uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1000-1002)GAC>AAC		ribosomal protein S6 kinase polypeptide 6							60.0	54.0	56.0					X																	83371245		2202	4289	6491	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83371245C>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1000G>A	X.37:g.83371245C>T	ENSP00000262752:p.Asp334Asn					RPS6KA6_uc011mqt.1_Missense_Mutation_p.D334N|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D231N	p.D334N	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			12	1077	-			334			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1000G>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658853	0.47467	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58652	0.32;0.32	5.21	4.35	0.52113	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.40543	1.245	0.80722	D	1	B;B	0.16396	0.017;0.009	B;B	0.23852	0.049;0.02	T	0.35822	-0.9773	10	0.33141	T	0.24	.	10.9208	0.47163	0.0:0.9094:0.0:0.0906	.	334;334	B7ZL90;Q9UK32	.;KS6A6_HUMAN	N	334	ENSP00000262752:D334N;ENSP00000440830:D334N	ENSP00000262752:D334N	D	-	1	0	RPS6KA6	83257901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.750000	0.74888	0.969000	0.38237	0.600000	0.82982	GAC		0.249	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		28	2	0	0	0	0	28	2				
HDX	139324	broad.mit.edu	37	X	83616510	83616510	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83616510C>G	ENST00000297977.5	-	5	1527	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	HDX_ENST00000506585.2_Silent_p.V414V|HDX_ENST00000373177.2_Silent_p.V472V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	472						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTCAGTTGCCACAGCTTCAA	0.393																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1414-1416)GTG>GTC		highly divergent homeobox							75.0	62.0	66.0					X																	83616510		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83616510C>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1416G>C	X.37:g.83616510C>G						HDX_uc011mqv.1_Silent_p.V472V|HDX_uc004eel.1_Silent_p.V414V	p.V472V	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			5	1525	-			472			Homeobox 2.		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.1416G>C	CCDS35342.1																																																																																				0.393	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		27	8	0	0	0	0	27	8				
POF1B	79983	broad.mit.edu	37	X	84634342	84634342	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:84634342G>T	ENST00000262753.4	-	2	263	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	POF1B_ENST00000373145.3_Missense_Mutation_p.Q40K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	40						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGAGGCTGCTGGGCTTGGCTT	0.577																																						uc004eer.2		NA																	0					0						c.(118-120)CAG>AAG		premature ovarian failure, 1B							78.0	63.0	68.0					X																	84634342		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634342G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.118C>A	X.37:g.84634342G>T	ENSP00000262753:p.Gln40Lys					POF1B_uc004ees.2_Missense_Mutation_p.Q40K	p.Q40K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			2	264	-			40					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.118C>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	7.242	0.601522	0.13939	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.11385	2.78;2.78	5.67	3.85	0.44370	.	0.155735	0.30277	N	0.009982	T	0.11965	0.0291	L	0.47716	1.5	0.09310	N	1	B;B	0.28971	0.229;0.229	B;B	0.30572	0.117;0.117	T	0.13150	-1.0520	10	0.59425	D	0.04	.	11.7238	0.51698	0.0:0.3332:0.6668:0.0	.	40;40	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	K	40	ENSP00000262753:Q40K;ENSP00000362238:Q40K	ENSP00000262753:Q40K	Q	-	1	0	POF1B	84520998	0.986000	0.35501	0.562000	0.28370	0.020000	0.10135	1.902000	0.39848	0.529000	0.28599	0.538000	0.68166	CAG		0.577	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		34	4	1	0	3.21e-22	4.22e-22	34	4				
DACH2	117154	broad.mit.edu	37	X	85994839	85994839	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:85994839T>A	ENST00000373125.4	+	7	1194	c.1194T>A	c.(1192-1194)agT>agA	p.S398R	DACH2_ENST00000373131.1_Missense_Mutation_p.S385R|DACH2_ENST00000508860.1_Missense_Mutation_p.S231R|DACH2_ENST00000510272.1_Missense_Mutation_p.S179R	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	398					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAGCAGCAGTGTGTCCAGCT	0.468																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1192-1194)AGT>AGA		dachshund 2 isoform a							78.0	62.0	67.0					X																	85994839		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85994839T>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1194T>A	X.37:g.85994839T>A	ENSP00000362217:p.Ser398Arg					DACH2_uc004eex.2_Missense_Mutation_p.S385R|DACH2_uc010nmq.2_Missense_Mutation_p.S264R|DACH2_uc011mra.1_Missense_Mutation_p.S231R|DACH2_uc010nmr.2_Missense_Mutation_p.S179R|DACH2_uc004eey.2_Missense_Mutation_p.S81R|DACH2_uc004eez.2_Missense_Mutation_p.S81R	p.S398R	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			7	1364	+			398					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1194T>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.558845	0.65538	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88664	-2.41;-2.32	4.98	0.986	0.19784	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	M	0.64404	1.975	0.46356	D	0.999006	D;P;D;B	0.89917	1.0;0.78;0.999;0.126	D;B;D;B	0.80764	0.981;0.376;0.994;0.031	D	0.85537	0.1213	10	0.13853	T	0.58	.	7.6009	0.28075	0.0:0.5587:0.0:0.4413	.	264;398;385;398	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	R	398;385;398;231;179;231;53	ENSP00000362223:S385R;ENSP00000362217:S398R	ENSP00000345134:S398R	S	+	3	2	DACH2	85881495	0.984000	0.35163	0.999000	0.59377	0.952000	0.60782	0.061000	0.14366	0.095000	0.17434	0.412000	0.27726	AGT		0.468	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		21	3	0	0	0	0	21	3				
NOX1	27035	broad.mit.edu	37	X	100117442	100117442	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:100117442A>G	ENST00000372966.3	-	6	815	c.610T>C	c.(610-612)Ttc>Ctc	p.F204L	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F167L|NOX1_ENST00000217885.5_Missense_Mutation_p.F204L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	204	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTATACCAGAAGACTTCAAAA	0.463																																						uc004egj.2		NA																	0				ovary(1)	1						c.(610-612)TTC>CTC		NADPH oxidase 1 isoform long							176.0	171.0	172.0					X																	100117442		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117442A>G	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.610T>C	X.37:g.100117442A>G	ENSP00000362057:p.Phe204Leu					uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.F204L|NOX1_uc010nne.2_Missense_Mutation_p.F167L	p.F204L	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			6	816	-			204			Cytoplasmic (Potential).|Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.610T>C	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677577	0.68042	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95622	-3.76;-3.76;-3.76	4.34	3.14	0.36123	Flavoprotein transmembrane component (1);	0.061431	0.64402	D	0.000002	D	0.98204	0.9406	H	0.97023	3.925	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.97544	1.0088	10	0.87932	D	0	-4.2109	9.4339	0.38626	0.8231:0.1769:0.0:0.0	.	167;204;204	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	L	204;204;167	ENSP00000362057:F204L;ENSP00000217885:F204L;ENSP00000362051:F167L	ENSP00000217885:F204L	F	-	1	0	NOX1	100004098	1.000000	0.71417	0.993000	0.49108	0.828000	0.46876	8.157000	0.89647	0.615000	0.30124	0.486000	0.48141	TTC		0.463	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		218	48	0	0	0	0	218	48				
IL1RAPL2	26280	broad.mit.edu	37	X	104478565	104478565	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:104478565G>A	ENST00000372582.1	+	4	1176	c.420G>A	c.(418-420)ctG>ctA	p.L140L	IL1RAPL2_ENST00000344799.4_Silent_p.L140L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	140					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATCAGGCCTGTGCTACAACA	0.403																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(418-420)CTG>CTA		interleukin 1 receptor accessory protein-like 2							126.0	120.0	122.0					X																	104478565		2203	4299	6502	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104478565G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.420G>A	X.37:g.104478565G>A							p.L140L	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			4	1176	+			140			Extracellular (Potential).		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.420G>A	CCDS14517.1																																																																																				0.403	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		152	39	0	0	0	0	152	39				
GRIA3	2892	broad.mit.edu	37	X	122598930	122598930	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:122598930A>T	ENST00000371251.1	+	13	2343	c.2291A>T	c.(2290-2292)tAt>tTt	p.Y764F	GRIA3_ENST00000264357.5_Missense_Mutation_p.Y764F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y764F|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y764F|AL356213.1_ENST00000577653.1_RNA			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	764					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCCAAAGGCTATGGTGTGGCA	0.428																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2290-2292)TAT>TTT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						139.0	124.0	129.0					X																	122598930		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598930A>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2291A>T	X.37:g.122598930A>T	ENSP00000360297:p.Tyr764Phe					GRIA3_uc004etr.3_Missense_Mutation_p.Y764F|GRIA3_uc004ets.3_RNA	p.Y764F	NM_007325	NP_015564	P42263	GRIA3_HUMAN			14	2584	+			764			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2291A>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	a	13.48	2.248803	0.39797	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	L	0.39085	1.19	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.76071	0.987;0.979	T	0.57791	-0.7750	10	0.87932	D	0	.	13.5029	0.61467	1.0:0.0:0.0:0.0	.	764;764	P42263;P42263-2	GRIA3_HUMAN;.	F	764	ENSP00000264357:Y764F;ENSP00000446146:Y764F;ENSP00000360302:Y764F;ENSP00000360297:Y764F	ENSP00000264357:Y764F	Y	+	2	0	GRIA3	122426611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	1.784000	0.52394	0.336000	0.21669	TAT		0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		91	20	0	0	0	0	91	20				
GPR112	139378	broad.mit.edu	37	X	135439903	135439903	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:135439903A>T	ENST00000394143.1	+	10	7259	c.6968A>T	c.(6967-6969)tAt>tTt	p.Y2323F	GPR112_ENST00000370652.1_Missense_Mutation_p.Y2323F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.Y2118F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2118F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2323					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATTTCCTATGTACCATAC	0.368																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(6967-6969)TAT>TTT		G-protein coupled receptor 112							212.0	195.0	201.0					X																	135439903		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135439903A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6968A>T	X.37:g.135439903A>T	ENSP00000377699:p.Tyr2323Phe					GPR112_uc010nsb.1_Missense_Mutation_p.Y2118F|GPR112_uc010nsc.1_Intron	p.Y2323F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			10	7259	+	Acute lymphoblastic leukemia(192;0.000127)		2323			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6968A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304292	0.40795	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.27890	1.68;1.68;1.64;1.64	5.42	-0.572	0.11745	.	.	.	.	.	T	0.11367	0.0277	N	0.08118	0	0.30286	N	0.790873	B;B	0.33135	0.399;0.346	B;B	0.31686	0.134;0.124	T	0.34179	-0.9839	9	0.13853	T	0.58	.	4.3983	0.11374	0.4697:0.2233:0.3071:0.0	.	2118;2323	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	F	2323;2323;2118;2118	ENSP00000377699:Y2323F;ENSP00000359686:Y2323F;ENSP00000416526:Y2118F;ENSP00000377697:Y2118F	ENSP00000359686:Y2323F	Y	+	2	0	GPR112	135267569	0.126000	0.22350	0.919000	0.36401	0.978000	0.69477	-0.374000	0.07484	-0.011000	0.14247	0.481000	0.45027	TAT		0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			147	35	0	0	0	0	147	35				
SLITRK4	139065	broad.mit.edu	37	X	142717687	142717687	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717687A>G	ENST00000381779.4	-	2	1463	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I413T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I413T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	413						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AATCACTGTAATTTGATTGCT	0.388																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1237-1239)ATT>ACT		slit and trk like 4 protein precursor							144.0	121.0	129.0					X																	142717687		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717687A>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1238T>C	X.37:g.142717687A>G	ENSP00000371198:p.Ile413Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.I413T	p.I413T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1614	-	Acute lymphoblastic leukemia(192;6.56e-05)		413			Extracellular (Potential).|LRR 8.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1238T>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724325	0.48728	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.58060	0.36;0.36;0.36	5.29	5.29	0.74685	.	0.054460	0.64402	D	0.000001	T	0.69984	0.3172	M	0.72624	2.21	0.80722	D	1	P	0.51057	0.941	D	0.66716	0.946	T	0.73630	-0.3922	10	0.87932	D	0	-9.9634	13.2213	0.59890	1.0:0.0:0.0:0.0	.	413	Q8IW52	SLIK4_HUMAN	T	413	ENSP00000371198:I413T;ENSP00000349400:I413T;ENSP00000336627:I413T	ENSP00000336627:I413T	I	-	2	0	SLITRK4	142545353	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.287000	0.95975	1.874000	0.54306	0.437000	0.28790	ATT		0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		131	25	0	0	0	0	131	25				
SLITRK2	84631	broad.mit.edu	37	X	144905948	144905948	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:144905948T>A	ENST00000370490.1	+	1	6260	c.2005T>A	c.(2005-2007)Tat>Aat	p.Y669N	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y669N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	669					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATTACAGTATGGGTCTTA	0.478																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2005-2007)TAT>AAT		SLIT and NTRK-like family, member 2 precursor							82.0	72.0	75.0					X																	144905948		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905948T>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2005T>A	X.37:g.144905948T>A	ENSP00000359521:p.Tyr669Asn					SLITRK2_uc010nsp.2_Missense_Mutation_p.Y669N|SLITRK2_uc010nso.2_Missense_Mutation_p.Y669N|SLITRK2_uc011mwq.1_Missense_Mutation_p.Y669N|SLITRK2_uc011mwr.1_Missense_Mutation_p.Y669N|SLITRK2_uc011mws.1_Missense_Mutation_p.Y669N|SLITRK2_uc004fcg.2_Missense_Mutation_p.Y669N|SLITRK2_uc011mwt.1_Missense_Mutation_p.Y669N|CXorf1_uc004fch.2_5'Flank	p.Y669N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2995	+	Acute lymphoblastic leukemia(192;6.56e-05)		669			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2005T>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620105	0.66787	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.57273	0.47;0.41;0.41;0.41;0.41;0.41	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67015	-0.5777	10	0.30854	T	0.27	-7.6537	12.6934	0.56988	0.0:0.0:0.0:1.0	.	669	Q9H156	SLIK2_HUMAN	N	669	ENSP00000334374:Y669N;ENSP00000411681:Y669N;ENSP00000359521:Y669N;ENSP00000397015:Y669N;ENSP00000407347:Y669N;ENSP00000412010:Y669N	ENSP00000334374:Y669N	Y	+	1	0	SLITRK2	144713640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.904000	0.55121	0.486000	0.48141	TAT		0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		85	15	0	0	0	0	85	15				
GABRA3	2556	broad.mit.edu	37	X	151514091	151514091	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151514091A>G	ENST00000370314.4	-	3	462	c.224T>C	c.(223-225)cTg>cCg	p.L75P	GABRA3_ENST00000535043.1_Missense_Mutation_p.L75P	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	75					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATAGCCGTCCAGAAGACGATC	0.473																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NA																	0				ovary(1)	1						c.(223-225)CTG>CCG		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						122.0	107.0	112.0					X																	151514091		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151514091A>G		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.224T>C	X.37:g.151514091A>G	ENSP00000359337:p.Leu75Pro						p.L75P	NM_000808	NP_000799	P34903	GBRA3_HUMAN			3	464	-	Acute lymphoblastic leukemia(192;6.56e-05)		75			Extracellular (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.224T>C	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301467	0.81136	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.80994	-1.44;-1.44;-1.44	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	M	0.90198	3.095	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.92530	0.6032	10	0.87932	D	0	.	12.7656	0.57391	1.0:0.0:0.0:0.0	.	75	P34903	GBRA3_HUMAN	P	75	ENSP00000359337:L75P;ENSP00000359334:L75P;ENSP00000443527:L75P	ENSP00000359334:L75P	L	-	2	0	GABRA3	151264747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.453000	0.90349	1.921000	0.55644	0.414000	0.27820	CTG		0.473	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		67	14	0	0	0	0	67	14				
MAGEA6	4105	broad.mit.edu	37	X	151869846	151869846	+	Missense_Mutation	SNP	C	C	G	rs375835600		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151869846C>G	ENST00000329342.5	+	3	761	c.536C>G	c.(535-537)gCc>gGc	p.A179G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	179	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TACATCTTTGCCACCTGCCTG	0.527																																						uc004ffq.1		NA																	0					0						c.(535-537)GCC>GGC		melanoma antigen family A, 6							119.0	109.0	112.0					X																	151869846		2202	4299	6501	SO:0001583	missense	4105						protein binding	g.chrX:151869846C>G		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.536C>G	X.37:g.151869846C>G	ENSP00000329199:p.Ala179Gly					MAGEA6_uc004ffr.1_Missense_Mutation_p.A179G|MAGEA2_uc010nto.2_Intron	p.A179G	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	730	+	Acute lymphoblastic leukemia(192;6.56e-05)		179			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.536C>G	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	6.230	0.410640	0.11812	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04809	3.55;3.55;3.55	0.605	-1.21	0.09524	.	.	.	.	.	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	B	0.31193	0.312	B	0.34346	0.18	T	0.41270	-0.9518	8	0.87932	D	0	.	.	.	.	.	179	P43360	MAGA6_HUMAN	G	179	ENSP00000329199:A179G;ENSP00000403303:A179G;ENSP00000401806:A179G	ENSP00000329199:A179G	A	+	2	0	MAGEA6	151620502	0.020000	0.18652	0.002000	0.10522	0.049000	0.14656	0.386000	0.20702	-0.370000	0.08016	-1.111000	0.02071	GCC		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		102	18	0	0	0	0	102	18				
RPS4Y2	140032	broad.mit.edu	37	Y	22930714	22930714	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrY:22930714G>A	ENST00000288666.5	+	5	384	c.384G>A	c.(382-384)aaG>aaA	p.K128K		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	128					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(2)	2						AAGTGAGGAAGATTACTGTGG	0.438																																						uc011nbb.1		NA																	0					0						c.(382-384)AAG>AAA		ribosomal protein S4, Y-linked 2							138.0	125.0	129.0					Y																	22930714		617	1969	2586	SO:0001819	synonymous_variant	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22930714G>A	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"""S ribosomal proteins"""	18501	protein-coding gene	gene with protein product		400030	"""ribosomal protein S4, Y-linked 2 pseudogene"""	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.384G>A	Y.37:g.22930714G>A							p.K128K	NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN			5	480	+			128					A6NIR6	Silent	SNP	ENST00000288666.5	37	c.384G>A	CCDS44028.1																																																																																				0.438	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			49	8	0	0	0	0	49	8				
GNL2	29889	broad.mit.edu	37	1	38039946	38039946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:38039946delG	ENST00000373062.3	-	12	1512	c.1414delC	c.(1414-1416)cagfs	p.Q472fs		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	472					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCTCTTACCTGGGGGGCCACA	0.542																																						uc001cbk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1414-1416)CAGfs		guanine nucleotide binding protein-like 2							31.0	31.0	31.0					1																	38039946		2203	4300	6503	SO:0001589	frameshift_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38039946delG	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1414delC	1.37:g.38039946delG	ENSP00000362153:p.Gln472fs						p.Q472fs	NM_013285	NP_037417	Q13823	NOG2_HUMAN			12	1577	-		Myeloproliferative disorder(586;0.0393)	472					Q9BWN7	Frame_Shift_Del	DEL	ENST00000373062.3	37	c.1414delC	CCDS421.1																																																																																				0.542	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		16	23	NA	NA	NA	NA	16	23	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						uc001sws.2		NA																	0					0						c.(991-993)GGTfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs					TMEM19_uc009zru.1_RNA	p.G331fs	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1576	+		Breast(359;0.0889)	331			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	474	NA	NA	NA	NA	8	474	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25362210	25362211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:25362210_25362211insA	ENST00000255324.5	+	7	748_749	c.696_697insA	c.(697-699)aaafs	p.K233fs	RNF17_ENST00000255325.6_Frame_Shift_Ins_p.K233fs|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Frame_Shift_Ins_p.K233fs	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	233					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N235fs*3(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACATTGAAGAGAAAAAAAATAA	0.307																																						uc001upr.2		NA																	2	Deletion - Frameshift(2)		large_intestine(2)	ovary(1)|skin(1)	2						c.(694-699)GAGAAAfs		ring finger protein 17																																				SO:0001589	frameshift_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25362210_25362211insA	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.704dupA	13.37:g.25362218_25362218dupA	ENSP00000255324:p.Lys233fs					RNF17_uc010tdd.1_Frame_Shift_Ins_p.E91fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Ins_p.E232fs|RNF17_uc001ups.2_Frame_Shift_Ins_p.E171fs|RNF17_uc001upq.1_Frame_Shift_Ins_p.E232fs	p.E232fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	7	737_738	+		Lung SC(185;0.0225)|Breast(139;0.077)	232_233					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Frame_Shift_Ins	INS	ENST00000255324.5	37	c.696_697insA	CCDS9308.2																																																																																				0.307	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		42	31	NA	NA	NA	NA	42	31	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50785545	50785545	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50785545delG	ENST00000427738.3	+	3	740	c.535delG	c.(535-537)gggfs	p.G179fs	CYLD_ENST00000566206.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000568704.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G179fs|CYLD_ENST00000540145.1_Frame_Shift_Del_p.G179fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	179	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTCACTGACGGGGTGTACCA	0.418			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(535-537)GGGfs		ubiquitin carboxyl-terminal hydrolase CYLD							205.0	191.0	196.0					16																	50785545		1948	4141	6089	SO:0001589	frameshift_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50785545delG	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.535delG	16.37:g.50785545delG	ENSP00000392025:p.Gly179fs					CYLD_uc002egn.1_Frame_Shift_Del_p.G179fs|CYLD_uc002ego.2_Frame_Shift_Del_p.G179fs|CYLD_uc010cbs.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egq.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egr.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egs.1_Frame_Shift_Del_p.G179fs	p.G179fs	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			5	950	+		all_cancers(37;0.0156)	179			CAP-Gly 1.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Del	DEL	ENST00000427738.3	37	c.535delG	CCDS45482.1																																																																																				0.418	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			121	61	NA	NA	NA	NA	121	61	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17698946	17698946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:17698946delC	ENST00000353383.1	+	3	3153	c.2684delC	c.(2683-2685)gccfs	p.A895fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.A895fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	895					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCACCCAAGGCCCCACTCATC	0.652																																						uc002grm.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2683-2685)GCCfs		retinoic acid induced 1							33.0	31.0	32.0					17																	17698946		2203	4300	6503	SO:0001589	frameshift_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698946delC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2684delC	17.37:g.17698946delC	ENSP00000323074:p.Ala895fs					RAI1_uc002grn.1_Frame_Shift_Del_p.A895fs	p.A895fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3153	+			895					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	c.2684delC	CCDS11188.1																																																																																				0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		31	47	NA	NA	NA	NA	31	47	---	---	---	---
C17orf104	284071	broad.mit.edu	37	17	42744329	42744330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42744329_42744330insA	ENST00000409122.2	+	5	1192_1193	c.1050_1051insA	c.(1051-1053)aaafs	p.K351fs	C17orf104_ENST00000359945.3_Frame_Shift_Ins_p.K351fs|C17orf104_ENST00000409464.1_Frame_Shift_Ins_p.K185fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	351										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCAAGATAGCAAAAAATTAGC	0.347																																						uc010czv.2		NA																	0				central_nervous_system(1)	1						c.(1048-1053)AGCAAAfs		hypothetical protein LOC284071																																				SO:0001589	frameshift_variant	284071							g.chr17:42744329_42744330insA		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1056dupA	17.37:g.42744335_42744335dupA	ENSP00000386452:p.Lys351fs					C17orf104_uc002igy.1_Frame_Shift_Ins_p.S184fs|C17orf104_uc002igz.3_Frame_Shift_Ins_p.S184fs|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Frame_Shift_Ins_p.S184fs	p.S350fs	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	1050_1051	+			350_351					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Frame_Shift_Ins	INS	ENST00000409122.2	37	c.1050_1051insA	CCDS45703.2																																																																																				0.347	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		11	22	NA	NA	NA	NA	11	22	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)ggtfs	p.G472fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368																																						uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1414-1416)GGTfs		cell division cycle protein 27 isoform 2							83.0	89.0	87.0					17																	45219355		2201	4298	6499	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219355delC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1415delG	17.37:g.45219355delC	ENSP00000066544:p.Gly472fs					CDC27_uc002ile.3_Frame_Shift_Del_p.G478fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron	p.G472fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			12	1542	-			472					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1415delG	CCDS11509.1																																																																																				0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	384	NA	NA	NA	NA	7	384	---	---	---	---
PIGN	23556	broad.mit.edu	37	18	59821827	59821827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:59821827delC	ENST00000357637.5	-	7	915	c.500delG	c.(499-501)ggtfs	p.G167fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.G167fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	167					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)				ATCTTGAGCACCAAAATCCTC	0.313																																						uc002lii.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(499-501)GGTfs		phosphatidylinositol glycan anchor biosynthesis,							141.0	138.0	139.0					18																	59821827		1836	4087	5923	SO:0001589	frameshift_variant	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.chr18:59821827delC	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.500delG	18.37:g.59821827delC	ENSP00000350263:p.Gly167fs					PIGN_uc002lij.3_Frame_Shift_Del_p.G167fs	p.G167fs	NM_176787	NP_789744	O95427	PIGN_HUMAN			7	948	-		Colorectal(73;0.187)	167			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Del	DEL	ENST00000357637.5	37	c.500delG	CCDS45879.1																																																																																				0.313	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		77	200	NA	NA	NA	NA	77	200	---	---	---	---
HOXD4	3233	broad.mit.edu	37	2	177016671	177016671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:177016671delC	ENST00000306324.3	+	1	722	c.310delC	c.(310-312)ccgfs	p.P104fs	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	104					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ggcgcctccgccggcgcccct	0.756																																						uc002uks.2		NA																	0				pancreas(1)	1						c.(310-312)CCGfs		homeobox D4							10.0	13.0	12.0					2																	177016671		1962	4120	6082	SO:0001589	frameshift_variant	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016671delC		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.310delC	2.37:g.177016671delC	ENSP00000302548:p.Pro104fs						p.P104fs	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	559	+			104					B2R9R3|Q96AU0	Frame_Shift_Del	DEL	ENST00000306324.3	37	c.310delC	CCDS2269.1																																																																																				0.756	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			16	22	NA	NA	NA	NA	16	22	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187703843	187703844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:187703843_187703844insC	ENST00000295131.2	-	4	375_376	c.336_337insG	c.(334-339)gggatafs	p.I113fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	113					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTCGATGTATCCCCCGAAGCA	0.391																																						uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(334-339)GGGATAfs		zinc finger, SWIM domain containing 2																																				SO:0001589	frameshift_variant	151112				apoptosis		zinc ion binding	g.chr2:187703843_187703844insC	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.337dupG	2.37:g.187703848_187703848dupC	ENSP00000295131:p.Ile113fs						p.G112fs	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	376_377	-			112_113					B3KXV6|Q53SI3|Q57ZY3	Frame_Shift_Ins	INS	ENST00000295131.2	37	c.336_337insG	CCDS33348.1																																																																																				0.391	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		111	214	NA	NA	NA	NA	111	214	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43474181	43474181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:43474181delG	ENST00000292246.3	-	12	2006	c.1836delC	c.(1834-1836)gccfs	p.A612fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.A546fs|ANO10_ENST00000414522.2_Intron|ANO10_ENST00000451430.2_Frame_Shift_Del_p.A501fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.A422fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	612					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TATCAGGTATGGCAAATGCAA	0.423																																						uc003cmv.2		NA																	0				ovary(2)	2						c.(1834-1836)GCCfs		transmembrane protein 16K							97.0	92.0	94.0					3																	43474181		2203	4300	6503	SO:0001589	frameshift_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43474181delG	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1836delC	3.37:g.43474181delG	ENSP00000292246:p.Ala612fs					ANO10_uc011azs.1_Intron|ANO10_uc003cmw.2_Frame_Shift_Del_p.A546fs|ANO10_uc010hil.2_Frame_Shift_Del_p.A422fs|ANO10_uc011azt.1_Frame_Shift_Del_p.A501fs	p.A612fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			12	2007	-			612			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	c.1836delC	CCDS2710.2																																																																																				0.423	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		59	18	NA	NA	NA	NA	59	18	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33657174	33657175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33657174_33657175insG	ENST00000374316.5	+	51	7914_7915	c.6854_6855insG	c.(6853-6858)ctgggtfs	p.LG2285fs	ITPR3_ENST00000605930.1_Frame_Shift_Ins_p.LG2285fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2285					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCAACATCCTGGGTGCCCTCA	0.614																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(6853-6855)CTGfs		inositol 1,4,5-triphosphate receptor, type 3																																				SO:0001589	frameshift_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33657174_33657175insG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6857dupG	6.37:g.33657177_33657177dupG	ENSP00000363435:p.Leu2285fs					ITPR3_uc003oey.2_Frame_Shift_Ins_p.L372fs	p.L2285fs	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			50	7073_7074	+			2285			Helical; (Potential).		Q14649|Q5TAQ2	Frame_Shift_Ins	INS	ENST00000374316.5	37	c.6854_6855insG	CCDS4783.1																																																																																				0.614	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		38	73	NA	NA	NA	NA	38	73	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75233335	75233340	+	In_Frame_Del	DEL	TAGCCC	TAGCCC	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:75233335_75233340delTAGCCC	ENST00000342232.4	-	1	223_228	c.183_188delGGGCTA	c.(181-189)cagggctac>cac	p.61_63QGY>H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	61	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCGCCCAGTAGCCCTGGTAGGTGT	0.684																																						uc003yae.2		NA																	0				ovary(1)	1						c.(181-189)CAGGGCTAC>CAC		junctophilin 1																																				SO:0001651	inframe_deletion	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75233335_75233340delTAGCCC	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.183_188delGGGCTA	8.37:g.75233335_75233340delTAGCCC	ENSP00000344488:p.Gln61_Tyr63delinsHis					JPH1_uc003yaf.2_In_Frame_Del_p.61_63QGY>H|JPH1_uc003yag.1_Intron	p.61_63QGY>H	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	223_228	-	Breast(64;0.00576)		61_63			Gly-rich.|MORN 3.|Cytoplasmic (Potential).		B2RTZ0	In_Frame_Del	DEL	ENST00000342232.4	37	c.183_188delGGGCTA	CCDS6217.1																																																																																				0.684	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			11	41	NA	NA	NA	NA	11	41	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21968233	21968233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:21968233delC	ENST00000304494.5	-	3	736	c.466delG	c.(466-468)gatfs	p.D156fs	CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.D105fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	156					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.?(4)|p.0(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)		TTCTTTCAATCGGGGATGTCT	0.562		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1320	Whole gene deletion(1316)|Unknown(4)	p.0?(1112)|p.?(4)	haematopoietic_and_lymphoid_tissue(277)|skin(165)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|biliary_tract(13)|NS(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						c.(466-468)GATfs		cyclin-dependent kinase inhibitor 2A isoform 1							94.0	93.0	94.0					9																	21968233		2203	4300	6503	SO:0001589	frameshift_variant	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.chr9:21968233delC	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.466delG	9.37:g.21968233delC	ENSP00000307101:p.Asp156fs	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_3'UTR	p.D156fs	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)	3	678	-		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)	156					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.466delG	CCDS6510.1																																																																																				0.562	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		31	14	NA	NA	NA	NA	31	14	---	---	---	---
RPS6KA3	6197	broad.mit.edu	37	X	20195158	20195159	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:20195158_20195159delCT	ENST00000379565.3	-	11	1096_1097	c.889_890delAG	c.(889-891)agtfs	p.S297fs	RPS6KA3_ENST00000540702.1_Frame_Shift_Del_p.S269fs|RPS6KA3_ENST00000544447.1_Frame_Shift_Del_p.S269fs|RPS6KA3_ENST00000379548.4_Frame_Shift_Del_p.S268fs	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	297	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TCGTAAAAGACTCTGCGCTTCA	0.307																																						uc004czu.2		NA																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8	GRCh37	CD060660	RPS6KA3	D		c.(889-891)AGTfs		ribosomal protein S6 kinase, 90kDa, polypeptide																																				SO:0001589	frameshift_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20195158_20195159delCT	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.889_890delAG	X.37:g.20195160_20195161delCT	ENSP00000368884:p.Ser297fs					RPS6KA3_uc011mjk.1_Frame_Shift_Del_p.S268fs|RPS6KA3_uc004czv.2_Frame_Shift_Del_p.S285fs|RPS6KA3_uc011mjl.1_Frame_Shift_Del_p.S269fs|RPS6KA3_uc011mjm.1_Frame_Shift_Del_p.S269fs	p.S297fs	NM_004586	NP_004577	P51812	KS6A3_HUMAN			11	889_890	-			297			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Frame_Shift_Del	DEL	ENST00000379565.3	37	c.889_890delAG	CCDS14197.1																																																																																				0.307	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		94	22	NA	NA	NA	NA	94	22	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717956	142717957	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717956_142717957insT	ENST00000381779.4	-	2	1193_1194	c.968_969insA	c.(967-969)aacfs	p.N323fs	SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.N323fs|SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.N323fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	323						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGATTGCGGTTGGAGAGGGC	0.465																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(967-969)AACfs		slit and trk like 4 protein precursor																																				SO:0001589	frameshift_variant	139065					integral to membrane		g.chrX:142717956_142717957insT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.969dupA	X.37:g.142717958_142717958dupT	ENSP00000371198:p.Asn323fs					SLITRK4_uc004fby.2_Frame_Shift_Ins_p.N323fs	p.N323fs	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1344_1345	-	Acute lymphoblastic leukemia(192;6.56e-05)		323			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Ins	INS	ENST00000381779.4	37	c.968_969insA	CCDS14679.1																																																																																				0.465	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		128	29	NA	NA	NA	NA	128	29	---	---	---	---
