#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
APITD1	378708	broad.mit.edu	37	1	10494743	10494743	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:10494743G>A	ENST00000309048.3	+	3	280	c.205G>A	c.(205-207)Gca>Aca	p.A69T	APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.A69T|APITD1_ENST00000602787.1_Missense_Mutation_p.A69T|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602296.1_Missense_Mutation_p.A69T	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	69					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TGAAATGTTTGCAAGGTGGGT	0.418																																						uc001are.2		NA																	0				ovary(1)	1						c.(205-207)GCA>ACA		apoptosis-inducing, TAF9-like domain 1 isoform							144.0	141.0	142.0					1																	10494743		2203	4300	6503	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10494743G>A	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.205G>A	1.37:g.10494743G>A	ENSP00000308583:p.Ala69Thr					APITD1_uc001arf.2_Missense_Mutation_p.A69T|APITD1_uc001arg.2_3'UTR|APITD1_uc001arh.2_Missense_Mutation_p.A30T	p.A69T	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	3	621	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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)	69					Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	c.205G>A	CCDS115.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086623	0.94100	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	5.28	5.28	0.74379	Histone-fold (2);	0.050307	0.85682	D	0.000000	T	0.80358	0.4608	M	0.84219	2.685	0.50313	D	0.999868	D;D	0.89917	0.999;1.0	D;D	0.80764	0.967;0.994	T	0.79960	-0.1583	9	0.38643	T	0.18	-6.1622	17.0702	0.86571	0.0:0.0:1.0:0.0	.	69;69	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	T	69	.	ENSP00000383692:A69T	A	+	1	0	APITD1-CORT;APITD1	10417330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.708000	0.74660	2.639000	0.89480	0.655000	0.94253	GCA		0.418	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		8	162	0	0	0	0	8	162				
EIF4G3	8672	broad.mit.edu	37	1	21220080	21220080	+	Missense_Mutation	SNP	G	G	C	rs200708817		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:21220080G>C	ENST00000264211.8	-	12	2209	c.2015C>G	c.(2014-2016)cCt>cGt	p.P672R	EIF4G3_ENST00000544689.1_Missense_Mutation_p.P215R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P276R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P678R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P672R|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P392R|EIF4G3_ENST00000602326.1_Missense_Mutation_p.P678R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P125R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	672					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGTCCTCGAGGCAAAATTCG	0.463																																						uc001bec.2		NA																	0				skin(1)	1						c.(2014-2016)CCT>CGT		eukaryotic translation initiation factor 4							106.0	100.0	102.0					1																	21220080		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21220080G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2015C>G	1.37:g.21220080G>C	ENSP00000264211:p.Pro672Arg					EIF4G3_uc010odi.1_Missense_Mutation_p.P276R|EIF4G3_uc010odj.1_Missense_Mutation_p.P671R|EIF4G3_uc009vpz.2_Missense_Mutation_p.P392R|EIF4G3_uc001bed.2_Missense_Mutation_p.P672R|EIF4G3_uc001bef.2_Missense_Mutation_p.P671R|EIF4G3_uc001bee.2_Missense_Mutation_p.P678R	p.P672R	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	13	2271	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	672					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2015C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387631	0.82902	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	5.78	0.91487	.	0.126949	0.53938	D	0.000053	T	0.30198	0.0757	N	0.14661	0.345	0.80722	D	1	P;B;B;P;B	0.49961	0.93;0.029;0.171;0.766;0.145	P;B;B;B;B	0.45310	0.476;0.017;0.096;0.174;0.022	T	0.03773	-1.1005	10	0.16420	T	0.52	-11.4408	14.8071	0.69965	0.0:0.0:0.856:0.144	.	867;392;276;678;672	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	R	672;868;672;392;125;678;276;215;215	ENSP00000264211:P672R;ENSP00000383274:P672R;ENSP00000364071:P392R;ENSP00000442010:P125R;ENSP00000364073:P678R;ENSP00000444693:P276R;ENSP00000444401:P215R	ENSP00000264211:P672R	P	-	2	0	EIF4G3	21092667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.226000	0.78060	2.749000	0.94314	0.655000	0.94253	CCT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		46	83	0	0	0	0	46	83				
PPP1R8	5511	broad.mit.edu	37	1	28167531	28167531	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:28167531G>A	ENST00000311772.5	+	4	336	c.278G>A	c.(277-279)gGc>gAc	p.G93D	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	93	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACACGGCACTTTCTTG	0.468																																						uc001bov.1		NA																	0					0						c.(277-279)GGC>GAC		protein phosphatase 1 regulatory inhibitor							136.0	136.0	136.0					1																	28167531		2203	4300	6503	SO:0001583	missense	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28167531G>A	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.278G>A	1.37:g.28167531G>A	ENSP00000311677:p.Gly93Asp					PPP1R8_uc001bow.1_5'UTR|PPP1R8_uc001box.1_Intron|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_Intron	p.G93D	NM_014110	NP_054829	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	332	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	93			FHA.|Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.278G>A	CCDS311.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040669	0.93685	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	T	0.71579	-0.58	5.39	5.39	0.77823	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95656	0.8711	10	0.87932	D	0	-7.888	19.1538	0.93502	0.0:0.0:1.0:0.0	.	93	Q12972	PP1R8_HUMAN	D	93	ENSP00000311677:G93D	ENSP00000311677:G93D	G	+	2	0	PPP1R8	28040118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.675000	0.98638	2.536000	0.85505	0.561000	0.74099	GGC		0.468	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		5	250	0	0	0	0	5	250				
HIVEP3	59269	broad.mit.edu	37	1	42046335	42046335	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:42046335G>A	ENST00000372583.1	-	4	5019	c.4134C>T	c.(4132-4134)ccC>ccT	p.P1378P	HIVEP3_ENST00000247584.5_Silent_p.P1378P|HIVEP3_ENST00000429157.2_Silent_p.P1378P|HIVEP3_ENST00000372584.1_Silent_p.P1378P|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1378					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAAGGGCCGGGCCCAACCT	0.527																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4132-4134)CCC>CCT		human immunodeficiency virus type I enhancer							101.0	103.0	102.0					1																	42046335		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046335G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4134C>T	1.37:g.42046335G>A						HIVEP3_uc001cha.3_Silent_p.P1378P|HIVEP3_uc001cgy.2_RNA	p.P1378P	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5347	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1378					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.4134C>T	CCDS463.1																																																																																				0.527	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		105	134	0	0	0	0	105	134				
CCDC181	57821	broad.mit.edu	37	1	169391468	169391468	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:169391468A>T	ENST00000367806.3	-	3	353	c.201T>A	c.(199-201)gaT>gaA	p.D67E	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.D67E|CCDC181_ENST00000367805.3_Missense_Mutation_p.D67E	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	67						nucleus (GO:0005634)											ATTTGTCAGGATCAGAATGCC	0.383																																						uc001gga.1		NA																	0					0						c.(199-201)GAT>GAA		hypothetical protein LOC57821							101.0	92.0	95.0					1																	169391468		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391468A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.201T>A	1.37:g.169391468A>T	ENSP00000356780:p.Asp67Glu					C1orf114_uc001gfz.1_Missense_Mutation_p.D67E|C1orf114_uc009wvq.1_Missense_Mutation_p.D67E|C1orf114_uc001ggb.2_Missense_Mutation_p.D67E|C1orf114_uc001ggc.1_Missense_Mutation_p.D67E	p.D67E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	369	-	all_hematologic(923;0.208)		67					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.201T>A		.	.	.	.	.	.	.	.	.	.	A	0.253	-1.005327	0.02112	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21543	2.02;2.02;2.02;2.0	5.27	4.12	0.48240	.	0.345069	0.31020	N	0.008401	T	0.05593	0.0147	L	0.50919	1.6	0.25238	N	0.989772	B;B;B	0.27229	0.172;0.01;0.01	B;B;B	0.29598	0.104;0.006;0.006	T	0.29088	-1.0023	9	0.10636	T	0.68	-15.0594	2.7872	0.05377	0.5768:0.2131:0.081:0.129	.	67;67;67	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	E	67	ENSP00000356779:D67E;ENSP00000356780:D67E;ENSP00000442297:D67E;ENSP00000411000:D67E	ENSP00000356779:D67E	D	-	3	2	C1orf114	167658092	0.035000	0.19736	0.970000	0.41538	0.052000	0.14988	0.179000	0.16840	1.989000	0.58080	0.460000	0.39030	GAT		0.383	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		45	83	0	0	0	0	45	83				
TEX35	84066	broad.mit.edu	37	1	178491563	178491563	+	Silent	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:178491563T>A	ENST00000319416.2	+	9	802	c.690T>A	c.(688-690)acT>acA	p.T230T	TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367639.1_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		agtcccagactgagggaaggt	0.517																																						uc001glt.1		NA																	0					0						c.(688-690)ACT>ACA		hypothetical protein LOC84066							33.0	28.0	30.0					1																	178491563		2203	4300	6503	SO:0001819	synonymous_variant	84066					microtubule cytoskeleton		g.chr1:178491563T>A	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.690T>A	1.37:g.178491563T>A						C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_Intron|C1orf49_uc001glw.1_Intron	p.T230T	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			9	802	+			230						Silent	SNP	ENST00000319416.2	37	c.690T>A	CCDS1323.1																																																																																				0.517	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		10	13	0	0	0	0	10	13				
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G	rs200429699		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577													A|||	1	0.000199681	0.0	0.0	5008	,	,		15267	0.0		0.001	False		,,,				2504	0.0					uc001jut.3		NA																	0				ovary(1)	1						c.(2458-2460)TTT>CTT		synaptopodin 2-like isoform a							62.0	74.0	70.0					10																	75406952		2202	4300	6502	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406952A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2458T>C	10.37:g.75406952A>G	ENSP00000378289:p.Phe820Leu					SYNPO2L_uc001jus.3_Missense_Mutation_p.F596L	p.F820L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2610	-	Prostate(51;0.0112)		820			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2458T>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813125	0.70912	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.22539	1.95;2.26	4.98	4.98	0.66077	.	0.119748	0.64402	D	0.000019	T	0.23766	0.0575	L	0.54323	1.7	0.44500	D	0.997447	P;P	0.45531	0.666;0.86	B;P	0.44561	0.162;0.453	T	0.03597	-1.1021	10	0.12103	T	0.63	-5.368	14.8374	0.70194	1.0:0.0:0.0:0.0	.	820;596	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	596;820	ENSP00000361964:F596L;ENSP00000378289:F820L	ENSP00000361964:F596L	F	-	1	0	SYNPO2L	75076958	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.090000	0.63153	0.402000	0.26972	TTT		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		3	250	0	0	0	0	3	250				
PPFIBP2	8495	broad.mit.edu	37	11	7618879	7618879	+	Missense_Mutation	SNP	A	A	G	rs538034375		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:7618879A>G	ENST00000299492.4	+	5	849	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.N42S|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	154					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGAAACTCAATGCTGCTGAA	0.547													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20030	0.0		0.0	False		,,,				2504	0.0					uc001mfj.3		NA																	0				ovary(2)|breast(2)	4						c.(460-462)AAT>AGT		PTPRF interacting protein, binding protein 2							75.0	66.0	69.0					11																	7618879		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7618879A>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.461A>G	11.37:g.7618879A>G	ENSP00000299492:p.Asn154Ser					PPFIBP2_uc010rbb.1_Missense_Mutation_p.N77S|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.N77S|PPFIBP2_uc010rbd.1_5'UTR|PPFIBP2_uc010rbe.1_Missense_Mutation_p.N42S	p.N154S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	5	849	+			154			Potential.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.461A>G	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.34|17.34	3.364045|3.364045	0.61513|0.61513	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000524548|ENST00000299492;ENST00000527790;ENST00000541115;ENST00000528883	.|T;T;T	.|0.43294	.|0.95;0.95;0.95	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.176917	.|0.37623	.|N	.|0.002020	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|B;D;P;P	.|0.65815	.|0.129;0.995;0.909;0.741	.|B;D;B;B	.|0.63488	.|0.028;0.915;0.331;0.104	T|T	0.41502|0.41502	-0.9505|-0.9505	5|10	.|0.02654	.|T	.|1	-10.7075|-10.7075	13.2218|13.2218	0.59892|0.59892	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|42;42;77;154	.|E9PK77;B7Z433;F5GWB0;Q8ND30	.|.;.;.;LIPB2_HUMAN	V|S	109|154;154;77;42	.|ENSP00000299492:N154S;ENSP00000434981:N154S;ENSP00000435469:N42S	.|ENSP00000299492:N154S	M|N	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7575455|7575455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.531000|4.531000	0.60602|0.60602	2.021000|2.021000	0.59480|0.59480	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		16	20	0	0	0	0	16	20				
TMEM132A	54972	broad.mit.edu	37	11	60696185	60696185	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:60696185T>A	ENST00000453848.2	+	4	777	c.619T>A	c.(619-621)Tac>Aac	p.Y207N	TMEM132A_ENST00000005286.4_Missense_Mutation_p.Y207N			Q24JP5	T132A_HUMAN	transmembrane protein 132A	207						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGCTGGCCTACACGCTTGA	0.692																																						uc001nqj.2		NA																	0				skin(1)	1						c.(619-621)TAC>AAC		transmembrane protein 132A isoform b							25.0	26.0	26.0					11																	60696185		2191	4282	6473	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696185T>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.619T>A	11.37:g.60696185T>A	ENSP00000405823:p.Tyr207Asn					TMEM132A_uc001nqi.2_Missense_Mutation_p.Y207N|TMEM132A_uc001nqk.2_Missense_Mutation_p.Y220N|TMEM132A_uc001nql.1_Missense_Mutation_p.Y220N	p.Y207N	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			4	812	+			207			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.619T>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319928	0.60634	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.07688	3.17;3.17	4.13	4.13	0.48395	.	0.688712	0.12341	N	0.477473	T	0.26376	0.0644	M	0.76727	2.345	0.41587	D	0.988776	D;D;D	0.76494	0.996;0.993;0.999	D;P;D	0.70016	0.944;0.808;0.967	T	0.01099	-1.1452	10	0.87932	D	0	.	9.0474	0.36356	0.0:0.0:0.1848:0.8152	.	196;207;207	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	N	207	ENSP00000405823:Y207N;ENSP00000005286:Y207N	ENSP00000005286:Y207N	Y	+	1	0	TMEM132A	60452761	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.987000	0.49378	1.653000	0.50694	0.379000	0.24179	TAC		0.692	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		28	38	0	0	0	0	28	38				
DRD2	1813	broad.mit.edu	37	11	113283362	113283362	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:113283362G>A	ENST00000362072.3	-	7	1398	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	DRD2_ENST00000538967.1_Missense_Mutation_p.R354W|DRD2_ENST00000542968.1_Missense_Mutation_p.R352W|DRD2_ENST00000544518.1_Missense_Mutation_p.R351W|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.R323W|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000355319.2_Missense_Mutation_p.R354W	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	352	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGGAGGTCCGGGTTTTGCCA	0.567																																						uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(1054-1056)CGG>TGG		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						156.0	133.0	141.0					11																	113283362		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283362G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1054C>T	11.37:g.113283362G>A	ENSP00000354859:p.Arg352Trp					DRD2_uc010rwv.1_Missense_Mutation_p.R351W|DRD2_uc001poa.3_Missense_Mutation_p.R352W|DRD2_uc001pob.3_Missense_Mutation_p.R323W	p.R352W	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1375	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	352			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.1054C>T	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553432	0.65425	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.74526	-0.82;-0.8;-0.81;-0.85;-0.81;-0.82	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.051977	0.85682	D	0.000000	D	0.86351	0.5912	M	0.87097	2.86	0.51482	D	0.999927	B;D;D	0.76494	0.021;0.999;0.999	B;P;P	0.61658	0.012;0.886;0.892	D	0.86440	0.1766	10	0.44086	T	0.13	.	16.0536	0.80779	0.0:0.0:0.8579:0.1421	.	351;323;352	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	W	354;323;352;351;352;354	ENSP00000347474:R354W;ENSP00000278597:R323W;ENSP00000354859:R352W;ENSP00000441068:R351W;ENSP00000442172:R352W;ENSP00000438215:R354W	ENSP00000278597:R323W	R	-	1	2	DRD2	112788572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.163000	0.64948	2.837000	0.97791	0.655000	0.94253	CGG		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		52	41	0	0	0	0	52	41				
GRIK4	2900	broad.mit.edu	37	11	120732824	120732824	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:120732824C>T	ENST00000527524.2	+	9	1188	c.901C>T	c.(901-903)Cct>Tct	p.P301S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P301S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	301					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTTCACTGGGCCTGCGGTAAG	0.562																																						uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(901-903)CCT>TCT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						168.0	170.0	169.0					11																	120732824		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120732824C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.901C>T	11.37:g.120732824C>T	ENSP00000435648:p.Pro301Ser					GRIK4_uc009zav.1_Missense_Mutation_p.P301S|GRIK4_uc009zaw.1_Missense_Mutation_p.P301S|GRIK4_uc009zax.1_Missense_Mutation_p.P301S	p.P301S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	9	1188	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	301			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.901C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385840	0.61956	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.22134	1.97;1.97	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.203842	0.52532	D	0.000065	T	0.39332	0.1074	L	0.45137	1.4	0.45777	D	0.998664	P;D	0.56035	0.953;0.974	P;P	0.61328	0.887;0.856	T	0.02214	-1.1194	10	0.52906	T	0.07	.	20.0661	0.97704	0.0:1.0:0.0:0.0	.	301;301	A6H8K8;Q16099	.;GRIK4_HUMAN	S	301	ENSP00000435648:P301S;ENSP00000404063:P301S	ENSP00000404063:P301S	P	+	1	0	GRIK4	120238034	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	4.230000	0.58632	2.739000	0.93911	0.563000	0.77884	CCT		0.562	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		142	232	0	0	0	0	142	232				
OPCML	4978	broad.mit.edu	37	11	132527003	132527003	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:132527003G>A	ENST00000331898.7	-	2	957	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	OPCML_ENST00000541867.1_Missense_Mutation_p.R127W|OPCML_ENST00000524381.1_Missense_Mutation_p.R120W|OPCML_ENST00000374778.4_Missense_Mutation_p.R86W|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	127					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGGTGAACCCGGGACGTTTTG	0.502																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(379-381)CGG>TGG		opioid binding protein/cell adhesion							172.0	148.0	156.0					11																	132527003		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527003G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.379C>T	11.37:g.132527003G>A	ENSP00000330862:p.Arg127Trp					OPCML_uc001qgu.2_Missense_Mutation_p.R120W|OPCML_uc010sck.1_Missense_Mutation_p.R127W|OPCML_uc001qgt.2_Missense_Mutation_p.R127W|OPCML_uc010scl.1_Missense_Mutation_p.R86W	p.R127W	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	429	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	127					B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.379C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821572	0.71028	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.83	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.063493	0.64402	D	0.000010	T	0.78291	0.4260	L	0.58101	1.795	0.37886	D	0.930556	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69479	0.935;0.964;0.935;0.935	D	0.83903	0.0291	10	0.87932	D	0	-15.7008	16.6716	0.85268	0.0:0.0:0.7574:0.2426	.	127;120;127;127	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	W	127;120;86;94;127	ENSP00000330862:R127W;ENSP00000434750:R120W;ENSP00000363910:R86W;ENSP00000445496:R127W	ENSP00000330862:R127W	R	-	1	2	OPCML	132032213	0.637000	0.27216	0.998000	0.56505	0.909000	0.53808	1.268000	0.33062	1.452000	0.47756	0.655000	0.94253	CGG		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		31	87	0	0	0	0	31	87				
KRT2	3849	broad.mit.edu	37	12	53039156	53039156	+	Missense_Mutation	SNP	C	C	A	rs567369735		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:53039156C>A	ENST00000309680.3	-	9	1588	c.1567G>T	c.(1567-1569)Ggt>Tgt	p.G523C		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	523	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GACCCTCTACCTCCAGAACCT	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21023	0.0		0.0	False		,,,				2504	0.0					uc001sat.2		NA																	0				ovary(2)	2						c.(1567-1569)GGT>TGT		keratin 2							107.0	109.0	108.0					12																	53039156		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53039156C>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1567G>T	12.37:g.53039156C>A	ENSP00000310861:p.Gly523Cys						p.G523C	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	9	1600	-			523			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1567G>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494251	0.44352	.	.	ENSG00000172867	ENST00000309680	D	0.91011	-2.77	4.46	3.57	0.40892	.	.	.	.	.	D	0.85075	0.5614	N	0.08118	0	0.38060	D	0.93603	D	0.63046	0.992	P	0.54499	0.754	D	0.85249	0.1043	9	0.48119	T	0.1	.	9.0667	0.36467	0.0:0.8156:0.0:0.1844	.	523	P35908	K22E_HUMAN	C	523	ENSP00000310861:G523C	ENSP00000310861:G523C	G	-	1	0	KRT2	51325423	0.973000	0.33851	0.992000	0.48379	0.859000	0.49053	0.973000	0.29422	1.022000	0.39626	0.462000	0.41574	GGT		0.552	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		88	148	1	0	7.54e-32	8.8e-32	88	148				
HAL	3034	broad.mit.edu	37	12	96379739	96379739	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:96379739G>A	ENST00000261208.3	-	14	1521	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	HAL_ENST00000541929.1_Missense_Mutation_p.H177Y|HAL_ENST00000538703.1_Missense_Mutation_p.H385Y	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	385					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGAACCTGTGACTCTCTGTG	0.418																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NA																	0				ovary(2)|skin(1)	3						c.(1153-1155)CAC>TAC		histidine ammonia-lyase	L-Histidine(DB00117)						98.0	87.0	90.0					12																	96379739		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96379739G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1153C>T	12.37:g.96379739G>A	ENSP00000261208:p.His385Tyr					HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.H177Y|HAL_uc010sux.1_Missense_Mutation_p.H385Y	p.H385Y	NM_002108	NP_002099	P42357	HUTH_HUMAN			14	1450	-			385					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1153C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010892	0.75046	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.78003	-1.14;-1.14;-1.14	5.51	5.51	0.81932	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.82823	2.61	0.80722	D	1	D;P	0.65815	0.995;0.804	D;P	0.63033	0.91;0.665	D	0.89735	0.3929	10	0.72032	D	0.01	-19.3598	19.4223	0.94726	0.0:0.0:1.0:0.0	.	385;385	F5GXF2;P42357	.;HUTH_HUMAN	Y	385;177;385	ENSP00000261208:H385Y;ENSP00000446364:H177Y;ENSP00000440861:H385Y	ENSP00000261208:H385Y	H	-	1	0	HAL	94903870	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	9.476000	0.97823	2.597000	0.87782	0.591000	0.81541	CAC		0.418	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			33	40	0	0	0	0	33	40				
SIAH3	283514	broad.mit.edu	37	13	46357874	46357874	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr13:46357874C>T	ENST00000400405.2	-	2	560	c.454G>A	c.(454-456)Gcg>Acg	p.A152T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TCAGCCGGCGCGGGGAGGTGC	0.617																																						uc001vap.2		NA																	0				ovary(1)|skin(1)	2						c.(454-456)GCG>ACG		seven in absentia homolog 3							48.0	55.0	53.0					13																	46357874		2082	4211	6293	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357874C>T		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.454G>A	13.37:g.46357874C>T	ENSP00000383256:p.Ala152Thr						p.A152T	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	536	-			152					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.454G>A	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259273	0.95368	.	.	ENSG00000215475	ENST00000400405	T	0.26223	1.75	5.19	5.19	0.71726	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.294360	0.30949	U	0.008548	T	0.44767	0.1309	L	0.44542	1.39	0.49130	D	0.999758	D	0.89917	1.0	D	0.73380	0.98	T	0.36768	-0.9734	10	0.66056	D	0.02	.	17.7051	0.88306	0.0:1.0:0.0:0.0	.	152	Q8IW03	SIAH3_HUMAN	T	152	ENSP00000383256:A152T	ENSP00000383256:A152T	A	-	1	0	SIAH3	45255875	1.000000	0.71417	0.741000	0.31004	0.993000	0.82548	6.004000	0.70709	2.431000	0.82371	0.561000	0.74099	GCG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		27	19	0	0	0	0	27	19				
SYNE2	23224	broad.mit.edu	37	14	64493344	64493344	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr14:64493344C>T	ENST00000344113.4	+	42	6512	c.6300C>T	c.(6298-6300)atC>atT	p.I2100I	SYNE2_ENST00000554584.1_Silent_p.I2100I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.I2100I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2100					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAGACCATCATGAAGCAGG	0.448																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(6298-6300)ATC>ATT		spectrin repeat containing, nuclear envelope 2							69.0	69.0	69.0					14																	64493344		1974	4143	6117	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64493344C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6300C>T	14.37:g.64493344C>T						SYNE2_uc001xgl.2_Silent_p.I2100I	p.I2100I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	42	6530	+			2100			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6300C>T	CCDS41963.1																																																																																				0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		17	9	0	0	0	0	17	9				
AHNAK2	113146	broad.mit.edu	37	14	105414123	105414123	+	Silent	SNP	A	A	G	rs566559354	byFrequency	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr14:105414123A>G	ENST00000333244.5	-	7	7784	c.7665T>C	c.(7663-7665)ccT>ccC	p.P2555P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2555						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCGGCACAGGGCCCTCTG	0.627													.|||	4	0.000798722	0.0008	0.0	5008	,	,		16460	0.002		0.0	False		,,,				2504	0.001					uc010axc.1		NA																	0				ovary(1)	1						c.(7663-7665)CCT>CCC		AHNAK nucleoprotein 2							105.0	117.0	113.0					14																	105414123		1876	4101	5977	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414123A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7665T>C	14.37:g.105414123A>G						AHNAK2_uc001ypx.2_Silent_p.P2455P	p.P2555P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7785	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2555					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7665T>C	CCDS45177.1																																																																																				0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	220	0	0	0	0	4	220				
ERN2	10595	broad.mit.edu	37	16	23713534	23713534	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:23713534C>T	ENST00000457008.2	-	11	1180	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E	ERN2_ENST00000256797.4_Missense_Mutation_p.G429E					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTCCACTCCCCAGGGTGGG	0.617																																						uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1285-1287)GGG>GAG		endoplasmic reticulum to nucleus signalling 2							90.0	95.0	93.0					16																	23713534		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713534C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1142G>A	16.37:g.23713534C>T	ENSP00000413812:p.Gly381Glu					ERN2_uc010bxp.2_Missense_Mutation_p.G429E|ERN2_uc010bxq.1_Missense_Mutation_p.G237E	p.G429E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1455	-			381			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1286G>A		.	.	.	.	.	.	.	.	.	.	C	0.029	-1.350477	0.01256	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.58652	0.32;0.33	5.9	0.452	0.16634	.	0.556572	0.19501	N	0.112733	T	0.38134	0.1029	L	0.47716	1.5	0.09310	N	1	B;B;B	0.24132	0.003;0.098;0.002	B;B;B	0.16289	0.015;0.012;0.008	T	0.31586	-0.9938	10	0.02654	T	1	.	6.6337	0.22872	0.0:0.5547:0.2362:0.2091	.	381;381;381	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	E	429;381	ENSP00000256797:G429E;ENSP00000413812:G381E	ENSP00000256797:G429E	G	-	2	0	ERN2	23621035	0.525000	0.26290	0.066000	0.19879	0.225000	0.24961	0.305000	0.19254	0.108000	0.17862	-0.519000	0.04390	GGG		0.617	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			112	190	0	0	0	0	112	190				
CYLD	1540	broad.mit.edu	37	16	50820854	50820854	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:50820854A>T	ENST00000427738.3	+	12	2243	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	CYLD_ENST00000540145.1_Nonsense_Mutation_p.K680*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.K495*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.K677*|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.K680*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.K677*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	680	USP.				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)				CTCTGAAGAAAAAGGTGACCA	0.358			"""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.(2038-2040)AAA>TAA		ubiquitin carboxyl-terminal hydrolase CYLD							98.0	101.0	100.0					16																	50820854		1838	4093	5931	SO:0001587	stop_gained	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.chr16:50820854A>T	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.2038A>T	16.37:g.50820854A>T	ENSP00000392025:p.Lys680*					CYLD_uc010cbs.1_Nonsense_Mutation_p.K677*|CYLD_uc002egq.1_Nonsense_Mutation_p.K677*|CYLD_uc002egr.1_Nonsense_Mutation_p.K677*|CYLD_uc002egs.1_Nonsense_Mutation_p.K677*	p.K680*	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			13	2453	+		all_cancers(37;0.0156)	680					O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.2038A>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	38	7.055936	0.98032	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.2931	15.8407	0.78842	1.0:0.0:0.0:0.0	.	.	.	.	X	680;680;677;677	.	ENSP00000308928:K680X	K	+	1	0	CYLD	49378355	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.623000	0.90957	2.206000	0.71126	0.383000	0.25322	AAA		0.358	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			37	26	0	0	0	0	37	26				
IRX6	79190	broad.mit.edu	37	16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	rs139251893		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		10868	0.0		0.001	False		,,,				2504	0.0					uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(505-507)CGC>CAC		iroquois homeobox protein 6							122.0	93.0	103.0					16																	55361590		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361590G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.506G>A	16.37:g.55361590G>A	ENSP00000290552:p.Arg169His					IRX6_uc002ehx.2_Missense_Mutation_p.R169H|IRX6_uc010ccb.1_RNA	p.R169H	NM_024335	NP_077311	P78412	IRX6_HUMAN			4	1039	+			169			Homeobox; TALE-type.		B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.506G>A	CCDS32449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	37	6.278479	0.97435	.	.	ENSG00000159387	ENST00000290552	D	0.91577	-2.87	6.08	6.08	0.98989	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.054741	0.85682	D	0.000000	D	0.92967	0.7762	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.93304	0.6679	10	0.87932	D	0	-17.4136	20.2585	0.98435	0.0:0.0:1.0:0.0	.	169;68	P78412;Q9BZI2	IRX6_HUMAN;.	H	169	ENSP00000290552:R169H	ENSP00000290552:R169H	R	+	2	0	IRX6	53919091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.894000	0.99253	0.655000	0.94253	CGC		0.612	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		3	56	0	0	0	0	3	56				
CDH3	1001	broad.mit.edu	37	16	68729271	68729271	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:68729271G>A	ENST00000264012.4	+	14	2660	c.2116G>A	c.(2116-2118)Ggt>Agt	p.G706S	CDH3_ENST00000581171.1_Missense_Mutation_p.G651S|CDH3_ENST00000429102.2_Missense_Mutation_p.G706S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	706					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGAAGAGGGGGGTGGCGAAGA	0.587																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(2116-2118)GGT>AGT		cadherin 3, type 1 preproprotein							33.0	32.0	32.0					16																	68729271		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68729271G>A	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2116G>A	16.37:g.68729271G>A	ENSP00000264012:p.Gly706Ser					CDH3_uc010vli.1_Missense_Mutation_p.G651S	p.G706S	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	14	3248	+		Ovarian(137;0.0564)	706			Cytoplasmic (Potential).		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2116G>A	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701964	0.88924	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	D;D	0.82619	-1.63;-1.63	5.0	5.0	0.66597	Cadherin, cytoplasmic domain (1);	0.000000	0.40144	N	0.001162	D	0.94142	0.8121	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95931	0.8938	10	0.87932	D	0	.	16.1433	0.81544	0.0:0.0:1.0:0.0	.	706	P22223	CADH3_HUMAN	S	706;706;651	ENSP00000398485:G706S;ENSP00000264012:G706S	ENSP00000264012:G706S	G	+	1	0	CDH3	67286772	1.000000	0.71417	0.990000	0.47175	0.592000	0.36648	9.619000	0.98369	2.471000	0.83476	0.462000	0.41574	GGT		0.587	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		14	6	0	0	0	0	14	6				
SHBG	6462	broad.mit.edu	37	17	7533791	7533791	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:7533791G>A	ENST00000380450.4	+	2	200	c.169G>A	c.(169-171)Gct>Act	p.A57T	SHBG_ENST00000576728.1_De_novo_Start_OutOfFrame|SHBG_ENST00000576478.1_De_novo_Start_OutOfFrame|SHBG_ENST00000572262.1_De_novo_Start_OutOfFrame|SHBG_ENST00000575314.1_De_novo_Start_OutOfFrame|SHBG_ENST00000416273.3_Missense_Mutation_p.A57T|SHBG_ENST00000340624.5_De_novo_Start_OutOfFrame|SAT2_ENST00000269298.5_5'Flank|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000572182.1_De_novo_Start_OutOfFrame|SHBG_ENST00000441599.2_Missense_Mutation_p.A57T|SHBG_ENST00000574539.1_De_novo_Start_OutOfFrame|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000575903.1_Missense_Mutation_p.A57T|SHBG_ENST00000570547.1_De_novo_Start_OutOfFrame	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	57	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	AGAGCCTATCGCTGTCATGAC	0.537																																						uc002gie.2		NA																	1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)		0						c.(169-171)GCT>ACT		sex hormone-binding globulin isoform 1	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						139.0	126.0	130.0					17																	7533791		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7533791G>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.169G>A	17.37:g.7533791G>A	ENSP00000369816:p.Ala57Thr					SHBG_uc010cmo.2_5'UTR|SHBG_uc010cmp.2_5'UTR|SHBG_uc010cmq.2_5'UTR|SHBG_uc010cmr.2_5'UTR|SHBG_uc010cms.2_5'UTR|SHBG_uc010cmt.2_5'UTR|SHBG_uc010cmu.2_5'UTR|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_5'UTR|SHBG_uc010cmv.2_5'UTR|SHBG_uc010cmw.2_5'UTR|SHBG_uc010cmx.2_5'UTR|SHBG_uc010cmy.2_5'UTR|SHBG_uc002gid.3_5'UTR|SHBG_uc010cnd.2_Missense_Mutation_p.A57T|SHBG_uc010cna.2_Missense_Mutation_p.A57T|SHBG_uc010vue.1_Missense_Mutation_p.A57T|SHBG_uc010vuf.1_Missense_Mutation_p.A57T|SHBG_uc010cnb.2_Missense_Mutation_p.A57T|SHBG_uc010cnc.2_Missense_Mutation_p.A57T	p.A57T	NM_001040	NP_001031	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	2	207	+		all_cancers(10;0.0867)	57			Laminin G-like 1.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.169G>A	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	G	1.006	-0.689350	0.03328	.	.	ENSG00000129214	ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T	0.79454	-1.27;-1.27;-1.27	4.48	-8.49	0.00931	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	1.127940	0.06576	N	0.749405	T	0.34454	0.0898	N	0.00538	-1.39	0.09310	N	0.999999	B;B;B;B;B;B;B	0.21147	0.052;0.052;0.009;0.002;0.031;0.009;0.031	B;B;B;B;B;B;B	0.10450	0.005;0.005;0.002;0.002;0.003;0.001;0.002	T	0.33752	-0.9856	10	0.21014	T	0.42	2.8225	1.6192	0.02710	0.3204:0.3563:0.1885:0.1348	.	57;52;30;57;57;57;57	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;P04278	.;.;.;.;.;.;SHBG_HUMAN	T	57	ENSP00000393426:A57T;ENSP00000388867:A57T;ENSP00000369816:A57T	ENSP00000369816:A57T	A	+	1	0	SHBG	7474516	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.119000	0.03276	-1.618000	0.01568	-0.258000	0.10820	GCT		0.537	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		58	108	0	0	0	0	58	108				
ASPSCR1	79058	broad.mit.edu	37	17	79954516	79954516	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:79954516G>C	ENST00000306739.4	+	7	824	c.727G>C	c.(727-729)Gtt>Ctt	p.V243L	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.V243L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V166L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	243					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCCCCCTTTGTTCCTTTCTC	0.657			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2		NA		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(727-729)GTT>CTT		alveolar soft part sarcoma chromosome region,							28.0	34.0	32.0					17																	79954516		2203	4299	6502	SO:0001583	missense	79058						protein binding	g.chr17:79954516G>C	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.727G>C	17.37:g.79954516G>C	ENSP00000302176:p.Val243Leu					ASPSCR1_uc002kcw.1_Missense_Mutation_p.V243L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.V243L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.V166L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.V166L	p.V243L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	824	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		243					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.727G>C	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235779	0.22626	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.37058	1.22;1.22	4.69	1.57	0.23409	.	0.234547	0.37761	N	0.001958	T	0.36082	0.0954	M	0.74881	2.28	0.09310	N	1	P;P;P;P	0.45126	0.732;0.851;0.62;0.738	B;B;B;B	0.42593	0.178;0.392;0.087;0.276	T	0.20306	-1.0279	10	0.31617	T	0.26	-6.8691	8.4773	0.33021	0.2445:0.0:0.7555:0.0	.	166;243;243;166	Q9BZE9-3;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;ASPC1_HUMAN;.	L	243;243;166	ENSP00000302176:V243L;ENSP00000306625:V243L	ENSP00000306625:V243L	V	+	1	0	ASPSCR1	77547805	0.390000	0.25213	0.020000	0.16555	0.041000	0.13682	1.031000	0.30165	0.205000	0.20568	0.561000	0.74099	GTT		0.657	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		20	42	0	0	0	0	20	42				
CHMP1B	57132	broad.mit.edu	37	18	11851812	11851812	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:11851812C>T	ENST00000526991.2	+	1	418	c.302C>T	c.(301-303)gCg>gTg	p.A101V	GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000423027.3_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	101					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						TCGATGGATGCGACATTGAAG	0.532																																						uc002kqe.2		NA																	0					0						c.(301-303)GCG>GTG		chromatin modifying protein 1B							162.0	171.0	168.0					18																	11851812		2144	4258	6402	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11851812C>T	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.302C>T	18.37:g.11851812C>T	ENSP00000432279:p.Ala101Val					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.A101V	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	424	+			101					Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.302C>T	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921144	0.52653	.	.	ENSG00000255112	ENST00000526991	T	0.74947	-0.89	5.6	3.83	0.44106	.	.	.	.	.	T	0.69940	0.3167	M	0.62723	1.935	0.40158	D	0.977038	B	0.09022	0.002	B	0.10450	0.005	T	0.66337	-0.5949	9	0.46703	T	0.11	.	10.7529	0.46219	0.0:0.8456:0.0:0.1544	.	101	Q7LBR1	CHM1B_HUMAN	V	101	ENSP00000432279:A101V	ENSP00000432279:A101V	A	+	2	0	CHMP1B	11841812	1.000000	0.71417	0.985000	0.45067	0.882000	0.50991	2.983000	0.49345	0.850000	0.35239	0.655000	0.94253	GCG		0.532	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		4	194	0	0	0	0	4	194				
LDLRAD4	753	broad.mit.edu	37	18	13645458	13645458	+	Silent	SNP	C	C	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:13645458C>G	ENST00000359446.5	+	6	1191	c.723C>G	c.(721-723)acC>acG	p.T241T	LDLRAD4_ENST00000592991.1_Silent_p.T143T|LDLRAD4_ENST00000361205.4_Silent_p.T241T|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Silent_p.T164T|LDLRAD4_ENST00000586765.1_Silent_p.T186T|LDLRAD4_ENST00000587757.1_Silent_p.T204T|LDLRAD4_ENST00000399848.3_Silent_p.T223T	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	241					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GTGCAAGCACCTGCAGCAGTA	0.582																																						uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(721-723)ACC>ACG		hypothetical protein LOC753 isoform alpha 1							64.0	69.0	67.0					18																	13645458		2203	4300	6503	SO:0001819	synonymous_variant	753					integral to membrane|plasma membrane		g.chr18:13645458C>G	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.723C>G	18.37:g.13645458C>G						C18orf1_uc002ksb.2_Silent_p.T223T|C18orf1_uc002kse.2_Silent_p.T204T|C18orf1_uc002ksf.2_Silent_p.T186T|C18orf1_uc002ksg.1_Silent_p.T164T|C18orf1_uc002ksh.1_Silent_p.T183T|C18orf1_uc002ksi.1_Silent_p.T165T	p.T241T	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1391	+			241			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.723C>G	CCDS32793.1																																																																																				0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		67	86	0	0	0	0	67	86				
ZNF516	9658	broad.mit.edu	37	18	74091731	74091731	+	Missense_Mutation	SNP	C	C	T	rs374836539		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:74091731C>T	ENST00000443185.2	-	4	2656	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	780					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)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTGCCAGATGCGTTTGTGCAT	0.572																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(2338-2340)CGC>CAC		zinc finger protein 516		C	HIS/ARG	0,4114		0,0,2057	34.0	39.0	37.0		2339	4.3	0.9	18		37	1,8389		0,1,4194	no	missense	ZNF516	NM_014643.3	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	780/1164	74091731	1,12503	2057	4195	6252	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091731C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2339G>A	18.37:g.74091731C>T	ENSP00000394757:p.Arg780His					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.R780H	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2574	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	780			C2H2-type 9; atypical.			Missense_Mutation	SNP	ENST00000443185.2	37	c.2339G>A		.	.	.	.	.	.	.	.	.	.	C	18.82	3.704536	0.68615	0.0	1.19E-4	ENSG00000101493	ENST00000443185	T	0.33865	1.39	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);	0.187618	0.34067	N	0.004282	T	0.61211	0.2329	.	.	.	0.42780	D	0.993863	D	0.89917	1.0	D	0.85130	0.997	T	0.67810	-0.5574	9	0.87932	D	0	-18.843	15.5252	0.75898	0.0:1.0:0.0:0.0	.	780	Q92618	ZN516_HUMAN	H	780	ENSP00000394757:R780H	ENSP00000394757:R780H	R	-	2	0	ZNF516	72220719	0.939000	0.31865	0.863000	0.33907	0.617000	0.37484	1.852000	0.39348	2.387000	0.81309	0.561000	0.74099	CGC		0.572	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		13	30	0	0	0	0	13	30				
GNA15	2769	broad.mit.edu	37	19	3148739	3148739	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:3148739G>A	ENST00000262958.3	+	2	554	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	99					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCCATGGAGCGGCTGCAGATT	0.692																																						uc002lxf.2		NA																	0				skin(2)	2						c.(295-297)CGG>CAG		guanine nucleotide binding protein (G protein),							31.0	25.0	27.0					19																	3148739		2200	4299	6499	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3148739G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.296G>A	19.37:g.3148739G>A	ENSP00000262958:p.Arg99Gln					GNA15_uc010xhf.1_Missense_Mutation_p.R99Q	p.R99Q	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	2	554	+		Hepatocellular(1079;0.137)	99					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.296G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	3.087	-0.187699	0.06299	.	.	ENSG00000060558	ENST00000262958	D	0.88741	-2.42	4.98	-3.79	0.04320	G protein alpha subunit, helical insertion (2);	0.997630	0.08109	N	0.996526	T	0.73087	0.3542	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58825	-0.7568	10	0.32370	T	0.25	.	9.7057	0.40214	0.167:0.6065:0.2266:0.0	.	99	P30679	GNA15_HUMAN	Q	99	ENSP00000262958:R99Q	ENSP00000262958:R99Q	R	+	2	0	GNA15	3099739	0.000000	0.05858	0.018000	0.16275	0.050000	0.14768	1.094000	0.30951	-0.086000	0.12550	0.456000	0.33151	CGG		0.692	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		7	1	0	0	0	0	7	1				
DENND1C	79958	broad.mit.edu	37	19	6477435	6477435	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:6477435A>G	ENST00000381480.2	-	7	513	c.401T>C	c.(400-402)tTt>tCt	p.F134S	DENND1C_ENST00000543576.1_Missense_Mutation_p.F90S|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	134	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGACTGCTGAAACAGATTTTG	0.627																																						uc002mfe.2		NA																	0				large_intestine(1)	1						c.(400-402)TTT>TCT		DENN/MADD domain containing 1C							37.0	42.0	41.0					19																	6477435		1907	4107	6014	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477435A>G	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.401T>C	19.37:g.6477435A>G	ENSP00000370889:p.Phe134Ser					DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.F90S	p.F134S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			7	493	-			134			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.401T>C	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	a	11.74	1.727725	0.30593	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11063	2.81;2.81	3.77	-4.12	0.03916	DENN (3);	0.538297	0.18285	N	0.145906	T	0.02807	0.0084	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.19946	0.027	T	0.35325	-0.9793	10	0.52906	T	0.07	2.0E-4	5.8736	0.18816	0.2265:0.144:0.0:0.6295	.	134	Q8IV53	DEN1C_HUMAN	S	134;90	ENSP00000370889:F134S;ENSP00000437805:F90S	ENSP00000370889:F134S	F	-	2	0	DENND1C	6428435	0.011000	0.17503	0.021000	0.16686	0.004000	0.04260	-0.433000	0.06948	-0.643000	0.05473	0.444000	0.29173	TTT		0.627	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		19	19	0	0	0	0	19	19				
ZNF429	353088	broad.mit.edu	37	19	21719158	21719158	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:21719158G>A	ENST00000358491.4	+	4	511	c.303G>A	c.(301-303)agG>agA	p.R101R	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGACACTGAGGAGATATGATA	0.328																																						uc002nqd.1		NA																	0				ovary(2)	2						c.(301-303)AGG>AGA		zinc finger protein 429							67.0	69.0	68.0					19																	21719158		2134	4272	6406	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719158G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.303G>A	19.37:g.21719158G>A						ZNF429_uc010ecu.1_Intron	p.R101R	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	440	+			101					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.303G>A	CCDS42537.1																																																																																				0.328	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		5	45	0	0	0	0	5	45				
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532																																						uc002siu.3		NA																	0					0						c.(508-510)CGC>CAC		RAB11 family interacting protein 5 (class I)							328.0	319.0	322.0					2																	73316366		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316366C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.509G>A	2.37:g.73316366C>T	ENSP00000258098:p.Arg170His					RAB11FIP5_uc002sit.3_Missense_Mutation_p.R92H	p.R170H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	750	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.509G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822055	0.90873	.	.	ENSG00000135631	ENST00000258098	T	0.33216	1.42	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60672	-0.7217	10	0.54805	T	0.06	-18.9627	16.5264	0.84332	0.0:1.0:0.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	170	ENSP00000258098:R170H	ENSP00000258098:R170H	R	-	2	0	RAB11FIP5	73169874	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.936000	0.70153	2.570000	0.86706	0.561000	0.74099	CGC		0.532	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		6	586	0	0	0	0	6	586				
SEMA4F	10505	broad.mit.edu	37	2	74883774	74883774	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:74883774G>A	ENST00000357877.2	+	2	408	c.259G>A	c.(259-261)Gct>Act	p.A87T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	87	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCATCTTCGCTTTATCCCT	0.527																																						uc002sna.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(259-261)GCT>ACT		semaphorin W precursor							97.0	90.0	92.0					2																	74883774		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74883774G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.259G>A	2.37:g.74883774G>A	ENSP00000350547:p.Ala87Thr					SEMA4F_uc010ysb.1_Missense_Mutation_p.A87T|SEMA4F_uc010ffq.1_Missense_Mutation_p.A87T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A87T	p.A87T	NM_004263	NP_004254	O95754	SEM4F_HUMAN			2	370	+			87			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.259G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601550	0.87055	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.153488	0.41605	D	0.000848	T	0.24699	0.0599	L	0.45137	1.4	0.27415	N	0.954458	D;D;D;D	0.89917	1.0;0.998;0.999;0.957	D;D;D;P	0.80764	0.98;0.909;0.994;0.742	T	0.01249	-1.1406	10	0.87932	D	0	.	13.5155	0.61539	0.0:0.0:1.0:0.0	.	87;87;87;87	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	T	87	ENSP00000350547:A87T;ENSP00000342675:A87T;ENSP00000407698:A87T;ENSP00000409141:A87T	ENSP00000342675:A87T	A	+	1	0	SEMA4F	74737282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.235000	0.58666	2.568000	0.86640	0.650000	0.86243	GCT		0.527	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		68	131	0	0	0	0	68	131				
C2orf68	388969	broad.mit.edu	37	2	85836569	85836569	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:85836569T>A	ENST00000306336.5	-	3	411	c.367A>T	c.(367-369)Atc>Ttc	p.I123F	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	123										breast(1)|central_nervous_system(1)|endometrium(1)	3						TGATAGACGATAACTGATGTG	0.542																																						uc002sqc.2		NA																	0				central_nervous_system(1)	1						c.(367-369)ATC>TTC		hypothetical protein LOC388969							191.0	195.0	194.0					2																	85836569		2069	4209	6278	SO:0001583	missense	388969							g.chr2:85836569T>A		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.367A>T	2.37:g.85836569T>A	ENSP00000304410:p.Ile123Phe					USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank	p.I123F	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			3	439	-			123					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.367A>T	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171529	0.78452	.	.	ENSG00000168887	ENST00000306336	.	.	.	5.3	5.3	0.74995	.	7.077360	0.00725	N	0.000902	T	0.79470	0.4451	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.60954	-0.7160	9	0.72032	D	0.01	-8.2823	11.5636	0.50792	0.0:0.0:0.0:1.0	.	123	Q2NKX9	CB068_HUMAN	F	123	.	ENSP00000304410:I123F	I	-	1	0	C2orf68	85690080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.273000	0.43381	2.232000	0.73038	0.528000	0.53228	ATC		0.542	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		170	299	0	0	0	0	170	299				
TTN	7273	broad.mit.edu	37	2	179568957	179568957	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:179568957A>G	ENST00000591111.1	-	104	29413	c.29189T>C	c.(29188-29190)aTt>aCt	p.I9730T	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I10047T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I8803T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13808	Ig-like 78.				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)			AACATCTGCAATGGTCAATTT	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(26407-26409)ATT>ACT		titin isoform N2-A							241.0	223.0	229.0					2																	179568957		1899	4124	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568957A>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.29189T>C	2.37:g.179568957A>G	ENSP00000465570:p.Ile9730Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5464T	p.I8803T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		103	26632	-			9730					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.26408T>C		.	.	.	.	.	.	.	.	.	.	A	14.67	2.604593	0.46423	.	.	ENSG00000155657	ENST00000342992	T	0.79554	-1.28	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93867	0.8038	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95949	0.8953	9	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	9730	Q8WZ42	TITIN_HUMAN	T	8803	ENSP00000343764:I8803T	ENSP00000343764:I8803T	I	-	2	0	TTN	179277202	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.109000	0.94291	2.326000	0.78906	0.533000	0.62120	ATT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		91	181	0	0	0	0	91	181				
MARS2	92935	broad.mit.edu	37	2	198571571	198571571	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:198571571G>A	ENST00000282276.6	+	1	1485	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGCTGTGTCCGGCAAACTAAT	0.542																																						uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1441-1443)CGG>CAG		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						104.0	106.0	106.0					2																	198571571		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571571G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1442G>A	2.37:g.198571571G>A	ENSP00000282276:p.Arg481Gln					uc002uup.2_Intron	p.R481Q	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	1485	+			481					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1442G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917561	0.73098	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.46451	0.87	5.07	5.07	0.68467	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.80616	2.505	0.50313	D	0.999865	P	0.43542	0.81	B	0.38803	0.282	T	0.52616	-0.8552	10	0.36615	T	0.2	-21.0481	15.9821	0.80116	0.0:0.0:1.0:0.0	.	481	Q96GW9	SYMM_HUMAN	Q	481;408	ENSP00000282276:R481Q	ENSP00000282276:R481Q	R	+	2	0	MARS2	198279816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.484000	0.81180	2.634000	0.89283	0.655000	0.94253	CGG		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		4	261	0	0	0	0	4	261				
AGFG1	3267	broad.mit.edu	37	2	228416677	228416677	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:228416677G>A	ENST00000310078.8	+	11	1641	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AGFG1_ENST00000409315.1_Missense_Mutation_p.A440T|AGFG1_ENST00000409171.1_Missense_Mutation_p.A461T|AGFG1_ENST00000409979.2_Missense_Mutation_p.A485T|AGFG1_ENST00000373671.3_Missense_Mutation_p.A421T	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	461					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A461S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTGTCAGCGGCAACCTTTGG	0.458																																						uc002vpc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1381-1383)GCA>ACA		HIV-1 Rev binding protein isoform 2							144.0	133.0	137.0					2																	228416677		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228416677G>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1381G>A	2.37:g.228416677G>A	ENSP00000312059:p.Ala461Thr					AGFG1_uc002vpd.2_Missense_Mutation_p.A485T|AGFG1_uc002vpe.2_Missense_Mutation_p.A461T|AGFG1_uc002vpf.2_Missense_Mutation_p.A421T	p.A461T	NM_004504	NP_004495	P52594	AGFG1_HUMAN			11	1631	+			461					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1381G>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834660	0.71373	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.34072	1.38;1.78;1.79;1.62;1.77	5.5	5.5	0.81552	.	0.053110	0.85682	D	0.000000	T	0.30448	0.0765	L	0.43152	1.355	0.50171	D	0.999854	B;B;B;B	0.15930	0.011;0.004;0.007;0.015	B;B;B;B	0.14578	0.007;0.011;0.003;0.007	T	0.06716	-1.0811	10	0.18276	T	0.48	.	13.6676	0.62405	0.0741:0.0:0.9259:0.0	.	421;461;485;461	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	T	485;470;461;440;421;461	ENSP00000387282:A485T;ENSP00000312059:A461T;ENSP00000387154:A440T;ENSP00000362775:A421T;ENSP00000387218:A461T	ENSP00000312059:A461T	A	+	1	0	AGFG1	228124921	1.000000	0.71417	0.918000	0.36340	0.979000	0.70002	6.974000	0.76122	2.587000	0.87381	0.467000	0.42956	GCA		0.458	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		4	231	0	0	0	0	4	231				
RIMS4	140730	broad.mit.edu	37	20	43378887	43378887	+	IGR	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr20:43378887C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.A134V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGGCTGAACGCGGTGGTGCGG	0.682																																						uc002xmr.2		NA																	0					0						c.(400-402)GCG>GTG		potassium family, subfamily K, member 15							30.0	27.0	28.0					20																	43378887		2202	4299	6501	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378887C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378887C>T							p.A134V	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	465	+		Myeloproliferative disorder(115;0.0122)	134			Cytoplasmic (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.401C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309919	0.40895	.	.	ENSG00000124249	ENST00000372861	D	0.97256	-4.31	4.29	3.26	0.37387	.	0.432064	0.22167	U	0.063700	D	0.92890	0.7738	L	0.29908	0.895	0.23361	N	0.997832	B	0.12630	0.006	B	0.15484	0.013	D	0.86044	0.1521	10	0.42905	T	0.14	.	10.3317	0.43827	0.0:0.838:0.0:0.162	.	134	Q9H427	KCNKF_HUMAN	V	134	ENSP00000361952:A134V	ENSP00000361952:A134V	A	+	2	0	KCNK15	42812301	0.998000	0.40836	1.000000	0.80357	0.522000	0.34438	3.842000	0.55858	2.207000	0.71202	0.655000	0.94253	GCG		0.682	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		3	18	0	0	0	0	3	18				
MYH9	4627	broad.mit.edu	37	22	36685234	36685234	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:36685234A>G	ENST00000216181.5	-	32	4684	c.4454T>C	c.(4453-4455)cTg>cCg	p.L1485P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1485					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCTTCCTCCAGGGCCCGGGC	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4453-4455)CTG>CCG		myosin, heavy polypeptide 9, non-muscle							56.0	47.0	50.0					22																	36685234		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36685234A>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4454T>C	22.37:g.36685234A>G	ENSP00000216181:p.Leu1485Pro						p.L1485P	NM_002473	NP_002464	P35579	MYH9_HUMAN			32	4685	-			1485			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4454T>C	CCDS13927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|A	26.2|26.2	4.719218|4.719218	0.89205|0.89205	.|.	.|.	ENSG00000100345|ENSG00000100345	ENST00000397231|ENST00000337818;ENST00000216181	.|T	.|0.80304	.|-1.36	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Myosin tail (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.91168	.|0.7218	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	.|D	.|0.93064	.|0.6477	.|10	.|0.87932	.|D	.|0	.|.	15.2144|15.2144	0.73254|0.73254	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1485	.|P35579	.|MYH9_HUMAN	.|P	-1|907;1485	.|ENSP00000216181:L1485P	.|ENSP00000216181:L1485P	.|L	-|-	.|2	.|0	MYH9|MYH9	35015180|35015180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.281000|9.281000	0.95811|0.95811	2.056000|2.056000	0.61249|0.61249	0.402000|0.402000	0.26972|0.26972	.|CTG		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		24	47	0	0	0	0	24	47				
PHF5A	84844	broad.mit.edu	37	22	41863565	41863565	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:41863565G>A	ENST00000216252.3	-	3	201	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank|ACO2_ENST00000396512.3_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	44					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCACATATGCGCACCAGAGTG	0.493																																					Ovarian(15;130 571 1826 2981 46141)	uc003bab.2		NA																	0					0						c.(130-132)CGC>TGC		PHD-finger 5A							113.0	96.0	102.0					22																	41863565		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863565G>A	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.130C>T	22.37:g.41863565G>A	ENSP00000216252:p.Arg44Cys					ACO2_uc003bac.2_5'Flank|ACO2_uc003bad.2_5'Flank	p.R44C	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN			3	181	-			44					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.130C>T	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498948	0.85069	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.89414	3.03	0.80722	D	1	B	0.21071	0.051	B	0.30716	0.119	T	0.78486	-0.2185	9	0.62326	D	0.03	-17.781	19.8379	0.96666	0.0:0.0:1.0:0.0	.	44	Q7RTV0	PHF5A_HUMAN	C	44	.	ENSP00000216252:R44C	R	-	1	0	PHF5A	40193511	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.707000	0.84623	2.765000	0.95021	0.655000	0.94253	CGC		0.493	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		43	60	0	0	0	0	43	60				
PLCXD2	257068	broad.mit.edu	37	3	111432939	111432939	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:111432939G>T	ENST00000477665.1	+	3	1154	c.830G>T	c.(829-831)gGc>gTc	p.G277V	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Missense_Mutation_p.G277V	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	277					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATTGCCCGGGGCTTGGTTGGG	0.502																																						uc003dya.2		NA																	0				skin(1)	1						c.(829-831)GGC>GTC		phosphatidylinositol-specific phospholipase C, X							34.0	35.0	34.0					3																	111432939		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111432939G>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.830G>T	3.37:g.111432939G>T	ENSP00000420686:p.Gly277Val					PLCXD2_uc003dyb.2_Missense_Mutation_p.G277V|PLCXD2_uc003dxz.2_Missense_Mutation_p.G277V	p.G277V	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			3	1416	+			277					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.830G>T	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646452	0.87958	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.77818	0.4187	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77781	-0.2459	8	0.49607	T	0.09	-18.3537	16.9188	0.86158	0.0:0.0:1.0:0.0	.	277;277	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	V	277	.	ENSP00000377511:G277V	G	+	2	0	PLCXD2	112915629	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.202000	0.77856	2.584000	0.87258	0.563000	0.77884	GGC		0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		6	173	1	0	3.6e-05	4.12e-05	6	173				
MYLK	4638	broad.mit.edu	37	3	123385193	123385193	+	Splice_Site	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:123385193G>A	ENST00000475616.1	-	19	3703	c.3704C>T	c.(3703-3705)gCa>gTa	p.A1235V	MYLK_ENST00000346322.5_Splice_Site_p.A1166V|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_Splice_Site_p.A35V|MYLK_ENST00000360772.3_Splice_Site_p.A1235V|MYLK_ENST00000359169.1_Splice_Site_p.A1235V|MYLK_ENST00000360304.3_Splice_Site_p.A1235V			Q15746	MYLK_HUMAN	myosin light chain kinase	1235	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGGGGCATTGCTGAGGGAGG	0.557																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(3703-3705)GCA>GTA		myosin light chain kinase isoform 1							79.0	62.0	68.0					3																	123385193		2203	4300	6503	SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123385193G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3704-1C>T	3.37:g.123385193G>A						MYLK_uc010hrr.2_5'Flank|MYLK_uc011bjv.1_Missense_Mutation_p.A35V|MYLK_uc011bjw.1_Missense_Mutation_p.A1235V|MYLK_uc003egp.2_Missense_Mutation_p.A1166V|MYLK_uc003egq.2_Missense_Mutation_p.A1235V|MYLK_uc003egr.2_Missense_Mutation_p.A1166V|MYLK_uc003egs.2_Missense_Mutation_p.A1059V	p.A1235V	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	22	3986	-		Lung NSC(201;0.0496)	1235			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3704C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271436	0.59649	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.67865	-0.29;-0.24;-0.29;-0.19;0.03;-0.24;1.11	5.66	4.79	0.61399	.	.	.	.	.	T	0.48429	0.1499	N	0.14661	0.345	0.44194	D	0.997012	B;B;B;B;B	0.17667	0.001;0.002;0.023;0.001;0.001	B;B;B;B;B	0.20184	0.014;0.009;0.028;0.005;0.006	T	0.37753	-0.9692	9	0.16896	T	0.51	.	13.413	0.60954	0.0771:0.0:0.9229:0.0	.	1235;1166;1235;1166;1235	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	V	1235;1235;1235;1166;35;1235;35	ENSP00000354004:A1235V;ENSP00000353452:A1235V;ENSP00000352088:A1235V;ENSP00000320622:A1166V;ENSP00000346846:A35V;ENSP00000418335:A1235V;ENSP00000422984:A35V	ENSP00000320622:A1166V	A	-	2	0	MYLK	124867883	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	2.628000	0.46477	1.391000	0.46566	0.563000	0.77884	GCA		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Missense_Mutation	42	166	0	0	0	0	42	166				
SMC4	10051	broad.mit.edu	37	3	160150245	160150245	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:160150245G>A	ENST00000357388.3	+	22	3923	c.3472G>A	c.(3472-3474)Gac>Aac	p.D1158N	SMC4_ENST00000360111.2_Missense_Mutation_p.D1100N|SMC4_ENST00000462787.1_Missense_Mutation_p.D1100N|SMC4_ENST00000469762.1_Missense_Mutation_p.D1133N|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000344722.5_Missense_Mutation_p.D1158N|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1158					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGGAGGGGACGCCGAACT	0.363																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(3472-3474)GAC>AAC		SMC4 structural maintenance of chromosomes							36.0	38.0	37.0					3																	160150245		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150245G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3472G>A	3.37:g.160150245G>A	ENSP00000349961:p.Asp1158Asn					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D1133N|SMC4_uc003fdj.2_Missense_Mutation_p.D1158N|SMC4_uc010hwd.2_Missense_Mutation_p.D1100N|SMC4_uc003fdl.2_Missense_Mutation_p.D861N	p.D1158N	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		22	3585	+			1158					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3472G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389978	0.95988	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.74106	-0.81;-0.77;-0.81;-0.77;-0.81	5.96	5.96	0.96718	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	L	0.49455	1.56	0.80722	D	1	D;B;D;D	0.89917	0.996;0.439;1.0;0.997	D;B;D;D	0.91635	0.913;0.296;0.999;0.943	T	0.78999	-0.1982	10	0.28530	T	0.3	-23.8383	20.3929	0.98965	0.0:0.0:1.0:0.0	.	1100;1133;1133;1158	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	N	1158;1100;1133;1100;1158;752	ENSP00000349961:D1158N;ENSP00000353225:D1100N;ENSP00000417964:D1133N;ENSP00000420734:D1100N;ENSP00000341382:D1158N	ENSP00000341382:D1158N	D	+	1	0	SMC4	161632939	1.000000	0.71417	0.936000	0.37596	0.731000	0.41821	9.763000	0.98947	2.820000	0.97059	0.655000	0.94253	GAC		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	89	0	0	0	0	8	89				
MUC4	4585	broad.mit.edu	37	3	195505835	195505835	+	Missense_Mutation	SNP	C	C	T	rs58500707		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195505835C>T	ENST00000463781.3	-	2	13075	c.12616G>A	c.(12616-12618)Gcc>Acc	p.A4206T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4206T	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.A4206T(3)		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)		AGAGGGGTGGCGTGACCTGTG	0.597																																						uc011bto.1		NA																	3	Substitution - Missense(3)		prostate(2)|stomach(1)		0						c.(12232-12234)GCC>ACC		mucin 4 isoform a							16.0	14.0	15.0					3																	195505835		687	1575	2262	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.chr3:195505835C>T	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.12616G>A	3.37:g.195505835C>T	ENSP00000417498:p.Ala4206Thr					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.A4078T	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	12692	-	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	SNP	ENST00000463781.3	37	c.12232G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	3.919	-0.018446	0.07681	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.55;1.49	.	.	.	.	.	.	.	.	T	0.17323	0.0416	N	0.19112	0.55	0.19300	N	0.999971	P	0.52316	0.952	B	0.41510	0.359	T	0.11251	-1.0595	6	.	.	.	.	.	.	.	rs58500707	4078	E7ESK3	.	T	4206	ENSP00000417498:A4206T;ENSP00000420243:A4206T	.	A	-	1	0	MUC4	196990614	.	.	0.020000	0.16555	0.044000	0.14063	.	.	0.452000	0.26830	0.074000	0.15403	GCC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		8	16	0	0	0	0	8	16				
MUC4	4585	broad.mit.edu	37	3	195505838	195505838	+	Missense_Mutation	SNP	G	G	C	rs59101491		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195505838G>C	ENST00000463781.3	-	2	13072	c.12613C>G	c.(12613-12615)Cac>Gac	p.H4205D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205D	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.H4205D(2)		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)		GGGGTGGCGTGACCTGTGGAT	0.597																																						uc011bto.1		NA																	2	Substitution - Missense(2)		prostate(2)		0						c.(12229-12231)CAC>GAC		mucin 4 isoform a							15.0	14.0	14.0					3																	195505838		689	1578	2267	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.chr3:195505838G>C	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.12613C>G	3.37:g.195505838G>C	ENSP00000417498:p.His4205Asp					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.H4077D	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	12689	-	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	SNP	ENST00000463781.3	37	c.12229C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.851	-0.738678	0.03111	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29142	1.58;1.6	.	.	.	.	.	.	.	.	T	0.16685	0.0401	N	0.19112	0.55	0.22684	N	0.998851	B	0.30236	0.274	B	0.29267	0.1	T	0.25187	-1.0139	6	.	.	.	.	.	.	.	rs59101491	4077	E7ESK3	.	D	4205	ENSP00000417498:H4205D;ENSP00000420243:H4205D	.	H	-	1	0	MUC4	196990617	.	.	0.017000	0.16124	0.048000	0.14542	.	.	0.452000	0.26830	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		8	16	0	0	0	0	8	16				
FRYL	285527	broad.mit.edu	37	4	48529997	48529997	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr4:48529997C>T	ENST00000503238.1	-	49	7130	c.7131G>A	c.(7129-7131)aaG>aaA	p.K2377K	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.K2377K|FRYL_ENST00000358350.4_Silent_p.K2377K|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGATGGGTTCTTTGGGAGGC	0.373																																						uc003gyh.1		NA																	0				skin(1)	1						c.(7129-7131)AAG>AAA		furry-like							109.0	98.0	101.0					4																	48529997		1842	4096	5938	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48529997C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7131G>A	4.37:g.48529997C>T						FRYL_uc003gyg.1_Silent_p.K1073K|FRYL_uc003gyi.1_Silent_p.K1265K|FRYL_uc003gyj.1_Silent_p.K672K	p.K2377K	NM_015030	NP_055845	O94915	FRYL_HUMAN			52	7736	-			2377					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.7131G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	7.791	0.711645	0.15306	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.77	4.92	0.64577	.	.	.	.	.	T	0.60353	0.2262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58674	-0.7595	4	.	.	.	.	9.5496	0.39301	0.1433:0.7864:0.0:0.0702	.	.	.	.	K	1247	.	.	E	-	1	0	FRYL	48224754	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	1.814000	0.38972	1.417000	0.47077	0.561000	0.74099	GAA		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	152	0	0	0	0	5	152				
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(1381-1383)GCT>TCT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A377S	p.A461S			P36537	UDB10_HUMAN			9	1517	-			498			Helical; (Potential).			Missense_Mutation	SNP		37	c.1381G>T																																																																																				0	0.448									11	205	1	0	5.51e-06	6.34e-06	11	205				
PCDHB3	56132	broad.mit.edu	37	5	140480302	140480302	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:140480302G>A	ENST00000231130.2	+	1	69	c.69G>A	c.(67-69)ggG>ggA	p.G23G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	23					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGGAGGGTCTCTGGCTG	0.498																																						uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(67-69)GGG>GGA		protocadherin beta 3 precursor							77.0	87.0	83.0					5																	140480302		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480302G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.69G>A	5.37:g.140480302G>A						uc003lin.2_RNA	p.G23G	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	69	+			23					B2R8P2	Silent	SNP	ENST00000231130.2	37	c.69G>A	CCDS4245.1																																																																																				0.498	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		27	75	0	0	0	0	27	75				
SLC26A2	1836	broad.mit.edu	37	5	149357868	149357868	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:149357868C>T	ENST00000286298.4	+	2	921	c.653C>T	c.(652-654)gCa>gTa	p.A218V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	218					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTGCTATGCAATTATGGTT	0.363																																						uc003lrh.2		NA																	0					0						c.(652-654)GCA>GTA		solute carrier family 26 member 2							118.0	115.0	116.0					5																	149357868		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357868C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.653C>T	5.37:g.149357868C>T	ENSP00000286298:p.Ala218Val						p.A218V	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	921	+			218			Extracellular (Potential).		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.653C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005841	0.74932	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.95853	-3.44;-3.83	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96970	0.9708	10	0.30854	T	0.27	.	19.6996	0.96048	0.0:1.0:0.0:0.0	.	218	P50443	S26A2_HUMAN	V	218;109	ENSP00000286298:A218V;ENSP00000426053:A109V	ENSP00000286298:A218V	A	+	2	0	SLC26A2	149338061	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GCA		0.363	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		50	134	0	0	0	0	50	134				
OR2W1	26692	broad.mit.edu	37	6	29012436	29012436	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:29012436T>C	ENST00000377175.1	-	1	581	c.517A>G	c.(517-519)Att>Gtt	p.I173V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	173						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(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGATCCAGAATGTTGTTTCCA	0.378																																						uc003nlw.2		NA																	0				ovary(2)|skin(1)	3						c.(517-519)ATT>GTT		olfactory receptor, family 2, subfamily W,							112.0	109.0	110.0					6																	29012436		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012436T>C	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.517A>G	6.37:g.29012436T>C	ENSP00000366380:p.Ile173Val						p.I173V	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	517	-			173			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.517A>G	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485466	0.44147	.	.	ENSG00000204704	ENST00000377175	T	0.00099	8.73	4.79	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	1.140810	0.06676	N	0.767090	T	0.00039	0.0001	N	0.04335	-0.225	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.00888	-1.1526	10	0.22109	T	0.4	.	9.8232	0.40896	0.0:0.3574:0.1716:0.4711	.	173	Q9Y3N9	OR2W1_HUMAN	V	173	ENSP00000366380:I173V	ENSP00000366380:I173V	I	-	1	0	OR2W1	29120415	0.000000	0.05858	0.058000	0.19502	0.581000	0.36288	-2.628000	0.00873	-0.568000	0.06038	-0.187000	0.12897	ATT		0.378	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			62	105	0	0	0	0	62	105				
NEU1	4758	broad.mit.edu	37	6	31828219	31828219	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:31828219G>A	ENST00000375631.4	-	4	924	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	265					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TCCTGACCTGGCATTCATCAG	0.557																																						uc003nxq.3		NA																	0				ovary(1)	1						c.(793-795)TGC>TGT		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						155.0	122.0	133.0					6																	31828219		2203	4300	6503	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828219G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.795C>T	6.37:g.31828219G>A						NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Silent_p.C96C|NEU1_uc003nxs.3_Silent_p.C265C	p.C265C	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			4	951	-			265						Silent	SNP	ENST00000375631.4	37	c.795C>T	CCDS4723.1																																																																																				0.557	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			4	163	0	0	0	0	4	163				
KCNK5	8645	broad.mit.edu	37	6	39159524	39159524	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:39159524G>T	ENST00000359534.3	-	5	980	c.642C>A	c.(640-642)aaC>aaA	p.N214K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	214					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGCGCTGGGGTTCACACCTG	0.587																																						uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(640-642)AAC>AAA		potassium channel, subfamily K, member 5							72.0	82.0	79.0					6																	39159524		2202	4299	6501	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159524G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.642C>A	6.37:g.39159524G>T	ENSP00000352527:p.Asn214Lys						p.N214K	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1006	-			214					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.642C>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620299	0.66787	.	.	ENSG00000164626	ENST00000359534	T	0.29142	1.58	5.57	0.895	0.19247	Ion transport 2 (1);	0.409278	0.31335	N	0.007826	T	0.08133	0.0203	L	0.37750	1.13	0.80722	D	1	B	0.29301	0.241	B	0.34346	0.18	T	0.17653	-1.0362	10	0.33940	T	0.23	.	0.2263	0.00174	0.3419:0.2031:0.2516:0.2034	.	214	O95279	KCNK5_HUMAN	K	214	ENSP00000352527:N214K	ENSP00000352527:N214K	N	-	3	2	KCNK5	39267502	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.517000	0.22832	0.245000	0.21373	0.561000	0.74099	AAC		0.587	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		65	121	1	0	4.39e-42	5.15e-42	65	121				
CHPF2	54480	broad.mit.edu	37	7	150934838	150934838	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr7:150934838C>T	ENST00000035307.2	+	4	2903	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.R456C	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	464					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGCCCTGGCTCGCAGGGTCAG	0.652																																						uc003wjr.1		NA																	0				ovary(1)	1						c.(1390-1392)CGC>TGC		chondroitin polymerizing factor 2							29.0	35.0	33.0					7																	150934838		2194	4289	6483	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934838C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1390C>T	7.37:g.150934838C>T	ENSP00000035307:p.Arg464Cys					CHPF2_uc003wjq.1_Missense_Mutation_p.R456C|MIR671_hsa-mir-671|MI0003760_5'Flank	p.R464C	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			4	2903	+			464			Lumenal (Potential).		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1390C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820866	0.71028	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.25085	1.82;1.82	4.97	4.97	0.65823	.	0.104860	0.64402	D	0.000007	T	0.39462	0.1079	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.89917	1.0;0.987	D;P	0.66847	0.947;0.556	T	0.14008	-1.0488	10	0.87932	D	0	-12.4653	10.9861	0.47523	0.2897:0.7103:0.0:0.0	.	464;456	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	C	456;464;464	ENSP00000418914:R456C;ENSP00000035307:R464C	ENSP00000035307:R464C	R	+	1	0	CHPF2	150565771	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.308000	0.65768	2.584000	0.87258	0.563000	0.77884	CGC		0.652	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		27	58	0	0	0	0	27	58				
FAM86B2	653333	broad.mit.edu	37	8	12285220	12285220	+	Missense_Mutation	SNP	C	C	T	rs201696967		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:12285220C>T	ENST00000262365.4	-	7	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	FAM86B2_ENST00000393715.3_Missense_Mutation_p.V52M|FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000351291.4_Missense_Mutation_p.V246M	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	280										endometrium(1)|kidney(2)	3						GTAAAGGCCACGTAGACCTCA	0.652																																						uc003wvt.3		NA																	0					0						c.(838-840)GTG>ATG		hypothetical protein LOC653333																																				SO:0001583	missense	653333							g.chr8:12285220C>T		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.838G>A	8.37:g.12285220C>T	ENSP00000262365:p.Val280Met					FAM66D_uc011kxp.1_Intron|uc003wvm.1_Intron|uc011kxs.1_5'Flank|uc003wvp.1_5'Flank|FAM86B2_uc003wvq.3_RNA|FAM86B2_uc003wvr.3_Missense_Mutation_p.V103M|FAM86B2_uc003wvs.3_Missense_Mutation_p.V180M|FAM86B2_uc010lsn.2_RNA|FAM86B2_uc003wvu.3_Missense_Mutation_p.V89M|FAM86B2_uc010lso.2_RNA|FAM86B2_uc011kxt.1_Missense_Mutation_p.V52M|FAM86B2_uc011kxu.1_RNA|FAM86B2_uc010lsl.2_RNA	p.V280M	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN			7	838	-			280						Missense_Mutation	SNP	ENST00000262365.4	37	c.838G>A	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	13.49	2.254260	0.39896	.	.	ENSG00000145002	ENST00000393715;ENST00000262365;ENST00000351291;ENST00000527331	T;T;T;T	0.34859	1.34;3.19;3.19;3.19	1.82	-0.54	0.11861	.	.	.	.	.	T	0.33585	0.0868	L	0.56769	1.78	0.80722	D	1	P	0.37985	0.613	B	0.41571	0.36	T	0.13072	-1.0523	9	0.66056	D	0.02	.	6.1989	0.20565	0.0:0.683:0.0:0.317	.	280	P0C5J1	F86B2_HUMAN	M	52;280;246;246	ENSP00000377318:V52M;ENSP00000262365:V280M;ENSP00000283479:V246M;ENSP00000432491:V246M	ENSP00000262365:V280M	V	-	1	0	FAM86B2	12329591	0.004000	0.15560	0.224000	0.23877	0.048000	0.14542	-0.800000	0.04555	-0.344000	0.08338	-1.608000	0.00805	GTG		0.652	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		7	41	0	0	0	0	7	41				
RP1	6101	broad.mit.edu	37	8	55534066	55534066	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:55534066C>T	ENST00000220676.1	+	2	688	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	180	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)			CCCAGAGCTTCGAGGCATTTC	0.637																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(538-540)TTC>TTT		retinitis pigmentosa RP1 protein							115.0	117.0	116.0					8																	55534066		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:55534066C>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.540C>T	8.37:g.55534066C>T						RP1_uc011ldy.1_Silent_p.F180F	p.F180F	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)		2	688	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	180			Doublecortin 2.			Silent	SNP	ENST00000220676.1	37	c.540C>T	CCDS6160.1																																																																																				0.637	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		99	157	0	0	0	0	99	157				
PDE7A	5150	broad.mit.edu	37	8	66691967	66691967	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:66691967G>A	ENST00000401827.3	-	3	714	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	PDE7A_ENST00000396642.3_Missense_Mutation_p.R91C|PDE7A_ENST00000379419.4_Missense_Mutation_p.R65C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	91					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGAAAATACGAAAATCAATA	0.353																																						uc003xvq.2		NA																	0					0						c.(271-273)CGT>TGT		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						112.0	118.0	116.0					8																	66691967		2203	4300	6503	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66691967G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.271C>T	8.37:g.66691967G>A	ENSP00000385632:p.Arg91Cys					PDE7A_uc003xvr.2_Missense_Mutation_p.R91C|PDE7A_uc003xvp.2_Missense_Mutation_p.R65C	p.R91C	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		3	283	-			91					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.271C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174010	0.78452	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.72051	-0.58;-0.59;-0.62;-0.18	5.87	5.87	0.94306	.	0.302100	0.36815	N	0.002390	D	0.82692	0.5092	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.79108	0.992;0.943;0.799	T	0.83269	-0.0044	10	0.87932	D	0	.	18.9794	0.92749	0.0:0.0:1.0:0.0	.	91;91;65	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	C	91;65;91;65	ENSP00000385632:R91C;ENSP00000368730:R65C;ENSP00000379881:R91C;ENSP00000430262:R65C	ENSP00000368730:R65C	R	-	1	0	PDE7A	66854521	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.178000	0.71968	2.781000	0.95711	0.655000	0.94253	CGT		0.353	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			8	191	0	0	0	0	8	191				
ASAP1	50807	broad.mit.edu	37	8	131130883	131130883	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:131130883T>G	ENST00000518721.1	-	19	1873	c.1646A>C	c.(1645-1647)gAt>gCt	p.D549A	ASAP1_ENST00000357668.1_Missense_Mutation_p.D549A	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	549	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AAACCTATGATCTACATACTT	0.333																																						uc003yta.1		NA																	0				ovary(4)	4						c.(1645-1647)GAT>GCT		development and differentiation enhancing factor							85.0	80.0	82.0					8																	131130883		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130883T>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1646A>C	8.37:g.131130883T>G	ENSP00000429900:p.Asp549Ala					ASAP1_uc003ysz.1_Missense_Mutation_p.D360A|ASAP1_uc011liw.1_Missense_Mutation_p.D542A	p.D549A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			18	1674	-			549			Arf-GAP.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1646A>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.045448|4.045448	0.75846|0.75846	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.41400|.	1.0;1.0|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.156964|.	0.53938|.	D|.	0.000041|.	T|T	0.54532|0.54532	0.1864|0.1864	L|L	0.28054|0.28054	0.825|0.825	0.80722|0.80722	D|D	1|1	P;P;P|.	0.43231|.	0.801;0.801;0.571|.	B;B;B|.	0.38156|.	0.266;0.266;0.173|.	T|T	0.51332|0.51332	-0.8719|-0.8719	10|5	0.25751|.	T|.	0.34|.	.|.	15.4264|15.4264	0.75055|0.75055	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	549;549;552|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	A|S	552;549;549|369	ENSP00000350297:D549A;ENSP00000429900:D549A|.	ENSP00000344591:D552A|.	D|R	-|-	2|3	0|2	ASAP1|ASAP1	131200065|131200065	1.000000|1.000000	0.71417|0.71417	0.333000|0.333000	0.25482|0.25482	0.974000|0.974000	0.67602|0.67602	7.649000|7.649000	0.83500|0.83500	2.241000|2.241000	0.73720|0.73720	0.533000|0.533000	0.62120|0.62120	GAT|AGA		0.333	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		35	32	0	0	0	0	35	32				
RECK	8434	broad.mit.edu	37	9	36110017	36110017	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:36110017G>A	ENST00000377966.3	+	15	2395	c.1829G>A	c.(1828-1830)tGc>tAc	p.C610Y		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	610					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AATTTGGTGTGCTCTACCCGC	0.463																																						uc003zyv.2		NA																	0				skin(2)|ovary(1)	3						c.(1828-1830)TGC>TAC		RECK protein precursor							294.0	232.0	253.0					9																	36110017		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36110017G>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1829G>A	9.37:g.36110017G>A	ENSP00000367202:p.Cys610Tyr					RECK_uc003zyw.2_Missense_Mutation_p.C482Y|RECK_uc003zyx.2_RNA	p.C610Y	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		15	1915	+			610					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1829G>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421145	0.83559	.	.	ENSG00000122707	ENST00000377966	T	0.79749	-1.3	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	M	0.70595	2.14	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89868	0.4021	10	0.87932	D	0	-10.477	17.0786	0.86592	0.0:0.0:1.0:0.0	.	610;610	A8K9D8;O95980	.;RECK_HUMAN	Y	610	ENSP00000367202:C610Y	ENSP00000367202:C610Y	C	+	2	0	RECK	36100017	1.000000	0.71417	0.991000	0.47740	0.944000	0.59088	8.719000	0.91436	2.711000	0.92665	0.655000	0.94253	TGC		0.463	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			118	193	0	0	0	0	118	193				
TMEM245	23731	broad.mit.edu	37	9	111795700	111795700	+	Silent	SNP	A	A	G	rs375313014		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:111795700A>G	ENST00000374586.3	-	17	2512	c.2481T>C	c.(2479-2481)ccT>ccC	p.P827P		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	827						integral component of membrane (GO:0016021)											AGAGAAGAATAGGACCGATGA	0.527																																						uc004bdt.3		NA																	0				central_nervous_system(1)	1						c.(2479-2481)CCT>CCC		hypothetical protein LOC23731		A		1,3973		0,1,1986	120.0	123.0	122.0		2481	0.5	0.9	9		122	0,8308		0,0,4154	no	coding-synonymous	C9orf5	NM_032012.3		0,1,6140	GG,GA,AA		0.0,0.0252,0.0081		827/880	111795700	1,12281	1987	4154	6141	SO:0001819	synonymous_variant	23731					integral to membrane		g.chr9:111795700A>G	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.2481T>C	9.37:g.111795700A>G						C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.P819P	p.P827P	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	17	2513	-		Myeloproliferative disorder(63;0.204)	827			Helical; (Potential).		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	c.2481T>C	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	A	9.386	1.074175	0.20227	2.52E-4	0.0	ENSG00000106771	ENST00000413712	.	.	.	5.42	0.499	0.16914	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	-15.0635	4.0316	0.09711	0.3445:0.0:0.3922:0.2633	.	.	.	.	H	420	.	.	Y	-	1	0	C9orf5	110835521	1.000000	0.71417	0.916000	0.36221	0.870000	0.49936	0.735000	0.26115	-0.154000	0.11118	-0.621000	0.04028	TAT		0.527	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		3	186	0	0	0	0	3	186				
SPTAN1	6709	broad.mit.edu	37	9	131388129	131388129	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:131388129G>A	ENST00000372731.4	+	47	6246	c.6136G>A	c.(6136-6138)Gcc>Acc	p.A2046T	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A2051T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A2051T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2046					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCTTCTCGCCGCCAAACACGT	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6136-6138)GCC>ACC		spectrin, alpha, non-erythrocytic 1							150.0	148.0	149.0					9																	131388129		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388129G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6136G>A	9.37:g.131388129G>A	ENSP00000361816:p.Ala2046Thr					SPTAN1_uc004bvm.3_Missense_Mutation_p.A2051T|SPTAN1_uc004bvn.3_Missense_Mutation_p.A2026T|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	p.A2046T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			47	6249	+			2046			Spectrin 21.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6136G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503163	0.44558	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.52526	0.66;0.66;0.66	5.3	3.4	0.38934	.	0.164731	0.53938	N	0.000050	T	0.65974	0.2743	M	0.85373	2.75	0.58432	D	0.999998	D;P;D	0.65815	0.995;0.883;0.972	P;B;D	0.63113	0.86;0.174;0.911	T	0.68500	-0.5392	10	0.45353	T	0.12	.	10.5107	0.44860	0.07:0.0:0.7975:0.1325	.	2026;2051;2046	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	T	2051;2046;2051;2026;295	ENSP00000350882:A2051T;ENSP00000361816:A2046T;ENSP00000361824:A2051T	ENSP00000350882:A2051T	A	+	1	0	SPTAN1	130427950	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	6.421000	0.73353	1.248000	0.43934	-0.224000	0.12420	GCC		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		6	314	0	0	0	0	6	314				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240782	39240796	+	In_Frame_Del	DEL	CTGCTGCCGCCCCAG	CTGCTGCCGCCCCAG	-	rs9894966|rs9894106|rs199957151|rs11650261|rs541163988|rs553572799	byFrequency	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:39240782_39240796delCTGCTGCCGCCCCAG	ENST00000391417.4	+	1	324_338	c.324_338delCTGCTGCCGCCCCAG	c.(322-339)acctgctgccgccccagc>acc	p.CCRPS109del		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	134	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.S113C(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gccagcccacctgctgccgccccagctgctgccgc	0.67														169	0.033746	0.0061	0.0375	5008	,	,		15885	0.0238		0.0775	False		,,,				2504	0.0337					uc010wfn.1		NA																	4	Substitution - Missense(1)|Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)		NS(2)|prostate(2)		0						c.(322-339)ACCTGCTGCCGCCCCAGC>ACC		keratin associated protein 4-7				120,3626		16,88,1769						1.0	0.3		dbSNP_126	14	690,6608		77,536,3036	no	coding	KRTAP4-7	NM_033061.3		93,624,4805	A1A1,A1R,RR		9.4546,3.2034,7.3343				810,10234				SO:0001651	inframe_deletion	100132476							g.chr17:39240782_39240796delCTGCTGCCGCCCCAG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.324_338delCTGCTGCCGCCCCAG	17.37:g.39240782_39240796delCTGCTGCCGCCCCAG	ENSP00000375236:p.Cys109_Ser113del						p.CCRPS109del	NM_033061	NP_149050					1	324_338	+								A0AVM6|A8MQ08|A8MTL4	In_Frame_Del	DEL	ENST00000391417.4	37	c.324_338delCTGCTGCCGCCCCAG	CCDS45673.1																																																																																				0.670	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			8	61	NA	NA	NA	NA	8	61	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(67-72)ACCATC>ATC		polyhomeotic like 3				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA	p.T23del	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	132_134	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	852	NA	NA	NA	NA	8	852	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195452996	195452997	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195452996_195452997delAG	ENST00000447234.2	+	2	1648_1649	c.1522_1523delAG	c.(1522-1524)agafs	p.R508fs	MUC20_ENST00000320736.6_Frame_Shift_Del_p.R337fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.R473fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.R508fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	508	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CGCCACAGAAAGAGAAGTGACA	0.604																																						uc010hzo.2		NA																	0					0						c.(1009-1011)AGAfs		mucin 20 isoform L																																				SO:0001589	frameshift_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452996_195452997delAG	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1522_1523delAG	3.37:g.195452998_195452999delAG	ENSP00000414350:p.Arg508fs					MUC20_uc010hzp.2_Frame_Shift_Del_p.R302fs|MUC20_uc011bte.1_RNA	p.R337fs	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1135_1136	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	508		Missing.	Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37	c.1009_1010delAG																																																																																					0.604	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		14	126	NA	NA	NA	NA	14	126	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120428777	120428778	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:120428777_120428778delAG	ENST00000259526.3	+	1	232_233	c.5_6delAG	c.(4-6)cagfs	p.Q2fs		NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			CTGAGCATGCAGAGTGTGCAGA	0.55											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yoq.2		NA																	0				ovary(2)|skin(2)|kidney(1)	5						c.(4-6)CAGfs		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120428777_120428778delAG	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.5_6delAG	8.37:g.120428779_120428780delAG	ENSP00000259526:p.Gln2fs		OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.Q2fs	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		1	226_227	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		2						Frame_Shift_Del	DEL	ENST00000259526.3	37	c.5_6delAG	CCDS6328.1																																																																																				0.550	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		20	41	NA	NA	NA	NA	20	41	---	---	---	---
