#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
SDF4	51150	broad.mit.edu	37	1	1163936	1163936	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1163936C>G	ENST00000360001.6	-	2	500	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	SDF4_ENST00000545427.1_Missense_Mutation_p.E80Q|SDF4_ENST00000263741.7_Missense_Mutation_p.E80Q|SDF4_ENST00000459994.2_5'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	80					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGGAAGACCTCCTGGTGGAAG	0.617																																						uc001adh.3		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(238-240)GAG>CAG		stromal cell derived factor 4 isoform 2							85.0	70.0	75.0					1																	1163936		2203	4298	6501	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1163936C>G		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.238G>C	1.37:g.1163936C>G	ENSP00000353094:p.Glu80Gln					SDF4_uc001adi.3_Missense_Mutation_p.E80Q|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA	p.E80Q	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	2	567	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	80					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.238G>C	CCDS30553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.720938|3.720938	0.68959|0.68959	.|.	.|.	ENSG00000078808|ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427|ENST00000403997	T;T;T|.	0.08634|.	3.07;3.07;3.07|.	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73729|0.73729	0.3624|0.3624	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.994|.	D;D|.	0.70016|.	0.967;0.911|.	T|T	0.75676|0.75676	-0.3235|-0.3235	10|5	0.72032|.	D|.	0.01|.	-31.458|-31.458	14.9598|14.9598	0.71147|0.71147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	80;80|.	Q9BRK5-6;Q9BRK5|.	.;CAB45_HUMAN|.	Q|A	80|14	ENSP00000353094:E80Q;ENSP00000263741:E80Q;ENSP00000444451:E80Q|.	ENSP00000263741:E80Q|.	E|G	-|-	1|2	0|0	SDF4|SDF4	1153799|1153799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.446000|0.446000	0.32137|0.32137	6.813000|6.813000	0.75231|0.75231	1.987000|1.987000	0.57996|0.57996	0.511000|0.511000	0.50034|0.50034	GAG|GGA		0.617	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		17	31	0	0	0	0	17	31				
SDF4	51150	broad.mit.edu	37	1	1164020	1164020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1164020C>T	ENST00000360001.6	-	2	416	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SDF4_ENST00000545427.1_Missense_Mutation_p.E52K|SDF4_ENST00000263741.7_Missense_Mutation_p.E52K|SDF4_ENST00000459994.2_5'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	52					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCATTCTCCTCCCTGTTGGCT	0.627																																						uc001adh.3		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(154-156)GAG>AAG		stromal cell derived factor 4 isoform 2							136.0	106.0	117.0					1																	1164020		2202	4299	6501	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1164020C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.154G>A	1.37:g.1164020C>T	ENSP00000353094:p.Glu52Lys					SDF4_uc001adi.3_Missense_Mutation_p.E52K|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA	p.E52K	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	2	483	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	52					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.154G>A	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396092	0.62177	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427	T;T;T	0.08370	3.1;3.1;3.1	4.52	4.52	0.55395	.	0.319209	0.31772	N	0.007082	T	0.11452	0.0279	L	0.40543	1.245	0.49915	D	0.999834	P;B	0.49559	0.925;0.201	P;B	0.47162	0.54;0.024	T	0.21518	-1.0243	10	0.23891	T	0.37	-12.2543	16.2023	0.82088	0.0:1.0:0.0:0.0	.	52;52	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	K	52	ENSP00000353094:E52K;ENSP00000263741:E52K;ENSP00000444451:E52K	ENSP00000263741:E52K	E	-	1	0	SDF4	1153883	1.000000	0.71417	0.926000	0.36857	0.110000	0.19582	5.038000	0.64177	2.049000	0.60858	0.511000	0.50034	GAG		0.627	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		29	44	0	0	0	0	29	44				
C1orf127	148345	broad.mit.edu	37	1	11007909	11007909	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:11007909C>T	ENST00000377008.4	-	11	2228	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	C1orf127_ENST00000377004.4_Silent_p.L761L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	594										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCACAGGCTCAGGGTTTGCG	0.662																																						uc010oao.1		NA																	0				ovary(1)	1						c.(1834-1836)CTG>CTA		hypothetical protein LOC148345							44.0	41.0	42.0					1																	11007909		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11007909C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1782G>A	1.37:g.11007909C>T						C1orf127_uc001arr.1_Silent_p.L594L|C1orf127_uc001ars.1_Silent_p.L586L	p.L612L	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1841	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	612					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.1836G>A																																																																																					0.662	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		5	29	0	0	0	0	5	29				
PLOD1	5351	broad.mit.edu	37	1	12024727	12024727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:12024727C>G	ENST00000196061.4	+	13	1382	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*	PLOD1_ENST00000376369.3_Nonsense_Mutation_p.S499*	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	452					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTATATTTCAAACATCTAC	0.587																																						uc001atm.2		NA																	0				ovary(2)|breast(1)	3						c.(1354-1356)TCA>TGA		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						97.0	101.0	99.0					1																	12024727		2203	4300	6503	SO:0001587	stop_gained	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024727C>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1355C>G	1.37:g.12024727C>G	ENSP00000196061:p.Ser452*					PLOD1_uc010obb.1_Nonsense_Mutation_p.S499*	p.S452*	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	13	1446	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	452					B4DR87|Q96AV9|Q9H132	Nonsense_Mutation	SNP	ENST00000196061.4	37	c.1355C>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.777223	0.98483	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	.	.	.	5.02	5.02	0.67125	.	0.256455	0.39341	N	0.001387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8213	0.63322	0.0:0.8341:0.1659:0.0	.	.	.	.	X	499;452	.	ENSP00000196061:S452X	S	+	2	0	PLOD1	11947314	1.000000	0.71417	0.950000	0.38849	0.976000	0.68499	6.227000	0.72282	2.331000	0.79229	0.655000	0.94253	TCA		0.587	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		52	68	0	0	0	0	52	68				
WDTC1	23038	broad.mit.edu	37	1	27632792	27632792	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:27632792T>A	ENST00000319394.3	+	16	2487	c.1952T>A	c.(1951-1953)aTc>aAc	p.I651N	WDTC1_ENST00000361771.3_Missense_Mutation_p.I650N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	651					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGCTACCGGATCACGGGCCTG	0.647																																						uc009vst.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1951-1953)ATC>AAC		WD and tetratricopeptide repeats 1							62.0	62.0	62.0					1																	27632792		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27632792T>A	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1952T>A	1.37:g.27632792T>A	ENSP00000317971:p.Ile651Asn					WDTC1_uc001bno.2_Missense_Mutation_p.I650N|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.I329N	p.I651N	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	16	2487	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	651					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1952T>A		.	.	.	.	.	.	.	.	.	.	T	22.4	4.279744	0.80692	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63096	-0.02;-0.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	N	0.08118	0	0.80722	D	1	P;D	0.53151	0.93;0.958	P;P	0.50934	0.652;0.654	T	0.56866	-0.7908	10	0.37606	T	0.19	.	14.7687	0.69659	0.0:0.0:0.0:1.0	.	651;650	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	651;650	ENSP00000317971:I651N;ENSP00000355317:I650N	ENSP00000317971:I651N	I	+	2	0	WDTC1	27505379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.650000	0.83521	2.144000	0.66660	0.533000	0.62120	ATC		0.647	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		21	38	0	0	0	0	21	38				
NT5C1A	84618	broad.mit.edu	37	1	40129051	40129051	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:40129051G>C	ENST00000235628.1	-	4	488	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	163					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATAGGCCTTGAGGTAGCAGA	0.532																																						uc001cdq.1		NA																	0				ovary(1)	1						c.(487-489)CTC>CTG		5'-nucleotidase, cytosolic IA							142.0	126.0	131.0					1																	40129051		2203	4300	6503	SO:0001819	synonymous_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40129051G>C	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.489C>G	1.37:g.40129051G>C							p.L163L	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	489	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	163					Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	c.489C>G	CCDS440.1																																																																																				0.532	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		23	29	0	0	0	0	23	29				
CYP4A11	1579	broad.mit.edu	37	1	47395807	47395807	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47395807C>T	ENST00000310638.4	-	12	1571	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CYP4A11_ENST00000462347.1_Missense_Mutation_p.E416K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E515K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	514			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCCTTGTCTTCACAAGGGTTA	0.562																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(1540-1542)GAA>AAA		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						73.0	61.0	65.0					1																	47395807		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395807C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1540G>A	1.37:g.47395807C>T	ENSP00000311095:p.Glu514Lys						p.E514K	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			12	1591	-			514		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1540G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588159	0.28357	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70045	-0.45;-0.4	3.1	-1.89	0.07689	.	.	.	.	.	T	0.39358	0.1075	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	9	0.87932	D	0	.	2.8784	0.05639	0.3543:0.3831:0.0:0.2626	.	514	Q02928	CP4AB_HUMAN	K	514;515	ENSP00000311095:E514K;ENSP00000360971:E515K	ENSP00000311095:E514K	E	-	1	0	CYP4A11	47168394	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-0.383000	0.07858	-0.164000	0.13417	GAA		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		11	43	0	0	0	0	11	43				
FOXE3	2301	broad.mit.edu	37	1	47882283	47882283	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47882283G>A	ENST00000335071.2	+	1	540	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	99					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		GCCATCTACCGCTTCATCACC	0.662																																						uc001crk.2		NA																	0					0						c.(295-297)CGC>CAC		forkhead box E3							31.0	29.0	29.0					1																	47882283		2201	4296	6497	SO:0001583	missense	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47882283G>A	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.296G>A	1.37:g.47882283G>A	ENSP00000334472:p.Arg99His						p.R99H	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	540	+			99			Fork-head.		Q5SVY9|Q9NQV9	Missense_Mutation	SNP	ENST00000335071.2	37	c.296G>A	CCDS550.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.292022	0.40594	.	.	ENSG00000186790	ENST00000335071	D	0.95622	-3.76	3.23	1.29	0.21616	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.380564	0.16151	U	0.227262	D	0.94991	0.8379	L	0.39326	1.205	0.34852	D	0.741767	D	0.76494	0.999	D	0.71414	0.973	D	0.93275	0.6655	10	0.72032	D	0.01	.	5.9085	0.19014	0.5559:0.0:0.4441:0.0	.	99	Q13461	FOXE3_HUMAN	H	99	ENSP00000334472:R99H	ENSP00000334472:R99H	R	+	2	0	FOXE3	47654870	0.001000	0.12720	0.979000	0.43373	0.090000	0.18270	0.951000	0.29135	0.098000	0.17522	-0.385000	0.06624	CGC		0.662	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1	NM_012186		6	45	0	0	0	0	6	45				
USP24	23358	broad.mit.edu	37	1	55598230	55598230	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:55598230G>C	ENST00000294383.6	-	31	3524	c.3525C>G	c.(3523-3525)ctC>ctG	p.L1175L	USP24_ENST00000407756.1_Silent_p.L1015L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1175					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTAAGTTGTAGAGCACTCTGA	0.383																																						uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(3043-3045)CTC>CTG		ubiquitin specific protease 24							90.0	88.0	89.0					1																	55598230		1844	4083	5927	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55598230G>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3525C>G	1.37:g.55598230G>C							p.L1015L	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			28	3045	-			1175					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.3045C>G	CCDS44154.2																																																																																				0.383	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			29	41	0	0	0	0	29	41				
C1orf168	199920	broad.mit.edu	37	1	57216842	57216842	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:57216842T>C	ENST00000343433.6	-	9	1342	c.1262A>G	c.(1261-1263)cAg>cGg	p.Q421R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	421								p.Q421L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTGGTCATCTGAATTTTTTC	0.458																																						uc001cym.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1261-1263)CAG>CGG		hypothetical protein LOC199920							117.0	100.0	106.0					1																	57216842		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57216842T>C	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1262A>G	1.37:g.57216842T>C	ENSP00000345972:p.Gln421Arg					C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	p.Q421R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			9	1668	-			421					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1262A>G	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080403	0.36662	.	.	ENSG00000187889	ENST00000343433	T	0.33654	1.4	4.0	4.0	0.46444	.	0.364072	0.23298	N	0.049705	T	0.29976	0.0750	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	P	0.48598	0.583	T	0.07908	-1.0748	10	0.14252	T	0.57	-0.4735	9.5783	0.39472	0.0:0.0:0.0:1.0	.	421	Q5VWT5	CA168_HUMAN	R	421	ENSP00000345972:Q421R	ENSP00000345972:Q421R	Q	-	2	0	C1orf168	56989430	0.011000	0.17503	0.041000	0.18516	0.022000	0.10575	1.726000	0.38085	2.024000	0.59613	0.528000	0.53228	CAG		0.458	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		3	48	0	0	0	0	3	48				
LRRIQ3	127255	broad.mit.edu	37	1	74507588	74507588	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:74507588C>T	ENST00000395089.1	-	6	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E343K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	343										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCAATTTTTCATCCACAATT	0.308																																						uc001dfy.3		NA																	0				ovary(2)	2						c.(1027-1029)GAA>AAA		leucine-rich repeats and IQ motif containing 3							36.0	35.0	35.0					1																	74507588		1815	4037	5852	SO:0001583	missense	127255							g.chr1:74507588C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1027G>A	1.37:g.74507588C>T	ENSP00000378524:p.Glu343Lys					LRRIQ3_uc001dfz.3_RNA	p.E343K	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1219	-			343					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1027G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427745	0.62733	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10763	2.84;2.84	5.62	4.66	0.58398	.	0.171870	0.27917	N	0.017338	T	0.05181	0.0138	L	0.27053	0.805	0.09310	N	1	P	0.39665	0.682	B	0.42798	0.398	T	0.13710	-1.0499	10	0.87932	D	0	.	13.1054	0.59244	0.0:0.8387:0.1612:0.0	.	343	A6PVS8	LRIQ3_HUMAN	K	343	ENSP00000378524:E343K;ENSP00000346414:E343K	ENSP00000346414:E343K	E	-	1	0	LRRIQ3	74280176	0.321000	0.24625	0.027000	0.17364	0.003000	0.03518	1.595000	0.36708	2.822000	0.97130	0.650000	0.86243	GAA		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		5	40	0	0	0	0	5	40				
SYCP1	6847	broad.mit.edu	37	1	115398091	115398091	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:115398091A>C	ENST00000369522.3	+	2	246	c.6A>C	c.(4-6)gaA>gaC	p.E2D	SYCP1_ENST00000369518.1_Missense_Mutation_p.E2D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	2					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAATGGAAAAGCAAAAGC	0.483																																						uc001efr.2		NA																	0				skin(1)	1						c.(4-6)GAA>GAC		synaptonemal complex protein 1							82.0	81.0	81.0					1																	115398091		2203	4300	6503	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115398091A>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.6A>C	1.37:g.115398091A>C	ENSP00000358535:p.Glu2Asp					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.E2D|SYCP1_uc009wgw.2_Missense_Mutation_p.E2D	p.E2D	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	215	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	2					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.6A>C	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098589	0.56183	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.51325	1.28;0.71;1.28	4.96	-6.99	0.01605	.	0.153116	0.45606	D	0.000341	T	0.12390	0.0301	L	0.32530	0.975	0.36208	D	0.851186	B;B	0.17667	0.023;0.023	B;B	0.19666	0.026;0.026	T	0.07751	-1.0756	10	0.30854	T	0.27	-5.4148	8.7588	0.34661	0.4284:0.11:0.4617:0.0	.	2;2	B7ZLS9;Q15431	.;SYCP1_HUMAN	D	2	ENSP00000358535:E2D;ENSP00000410011:E2D;ENSP00000358531:E2D	ENSP00000358531:E2D	E	+	3	2	SYCP1	115199614	0.255000	0.24002	0.448000	0.26945	0.256000	0.26092	-0.663000	0.05299	-1.757000	0.01316	0.459000	0.35465	GAA		0.483	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		16	44	0	0	0	0	16	44				
HIST2H3D	653604	broad.mit.edu	37	1	149784921	149784921	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:149784921C>T	ENST00000331491.1	-	1	315	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	106					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TTCGTGTCTTCGAACAGCCCC	0.652																																						uc010pbl.1		NA																	0					0						c.(316-318)GAA>AAA		histone cluster 2, H3d							28.0	31.0	30.0					1																	149784921		1567	3568	5135	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784921C>T	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.316G>A	1.37:g.149784921C>T	ENSP00000333277:p.Glu106Lys					HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.E106K	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	316	-			106					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.316G>A	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226548	0.58668	.	.	ENSG00000183598	ENST00000331491	T	0.71341	-0.56	3.83	3.83	0.44106	.	0.000000	0.53938	U	0.000047	T	0.76292	0.3967	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.80692	-0.1269	7	0.87932	D	0	.	14.8329	0.70162	0.0:1.0:0.0:0.0	.	.	.	.	K	106	ENSP00000333277:E106K	ENSP00000333277:E106K	E	-	1	0	HIST2H3D	148051545	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.244000	0.65400	2.139000	0.66308	0.436000	0.28706	GAA		0.652	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		11	51	0	0	0	0	11	51				
MUC1	4582	broad.mit.edu	37	1	155161971	155161971	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:155161971C>G	ENST00000368395.1	-	2	233	c.162G>C	c.(160-162)gtG>gtC	p.V54V	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000343256.5_Intron|MIR92B_ENST00000607575.1_RNA|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000337604.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	836					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCATACTCACAGCATTCT	0.577			T	IGH@	B-NHL																																	uc010pft.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(160-162)GTG>GTC		SubName: Full=MUC1 isoform M13;							163.0	154.0	157.0					1																	155161971		2203	4300	6503	SO:0001819	synonymous_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161971C>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.162G>C	1.37:g.155161971C>G						RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V63V|MUC1_uc001fiw.1_Silent_p.V54V|MIR92B_hsa-mir-92b|MI0003560_5'Flank	p.V54V			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	228	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		54			Extracellular (Potential).		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Silent	SNP	ENST00000368395.1	37	c.162G>C	CCDS55640.1																																																																																				0.577	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		21	115	0	0	0	0	21	115				
SELE	6401	broad.mit.edu	37	1	169694892	169694892	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:169694892A>C	ENST00000333360.7	-	13	1965	c.1826T>G	c.(1825-1827)aTc>aGc	p.I609S	SELE_ENST00000367777.1_Missense_Mutation_p.I546S|SELE_ENST00000367782.4_Missense_Mutation_p.I546S|SELE_ENST00000367780.4_Missense_Mutation_p.I484S|SELE_ENST00000367774.1_Missense_Mutation_p.I483S|SELE_ENST00000367775.1_Missense_Mutation_p.I484S|SELE_ENST00000367776.1_Missense_Mutation_p.I546S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.I483S|SELE_ENST00000367781.4_Missense_Mutation_p.I546S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	609					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACTTAAAGGATGTAAGAAGG	0.408																																						uc001ggm.3		NA																	0				ovary(3)|skin(2)	5						c.(1825-1827)ATC>AGC		selectin E precursor							128.0	121.0	124.0					1																	169694892		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169694892A>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1826T>G	1.37:g.169694892A>C	ENSP00000331736:p.Ile609Ser					C1orf112_uc001ggj.2_Intron	p.I609S	NM_000450	NP_000441	P16581	LYAM2_HUMAN			13	1983	-	all_hematologic(923;0.208)		609			Cytoplasmic (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1826T>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063722	0.36373	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.22134	2.08;2.01;2.19;1.97;2.01;2.01;2.19;2.08;1.97	5.08	-0.0333	0.13901	.	2.966650	0.01792	N	0.032357	T	0.03564	0.0102	N	0.12182	0.205	0.09310	N	1	B	0.33694	0.421	B	0.29785	0.107	T	0.27839	-1.0062	10	0.66056	D	0.02	5.2163	3.7777	0.08667	0.5949:0.0:0.2535:0.1515	.	609	P16581	LYAM2_HUMAN	S	546;546;484;483;609;546;484;546;483	ENSP00000356755:I546S;ENSP00000356756:I546S;ENSP00000356754:I484S;ENSP00000356753:I483S;ENSP00000331736:I609S;ENSP00000356751:I546S;ENSP00000356749:I484S;ENSP00000356750:I546S;ENSP00000356748:I483S	ENSP00000331736:I609S	I	-	2	0	SELE	167961516	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	0.004000	0.13106	-0.286000	0.09076	0.528000	0.53228	ATC		0.408	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		13	26	0	0	0	0	13	26				
PRDX6	9588	broad.mit.edu	37	1	173456943	173456943	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:173456943G>T	ENST00000340385.5	+	5	748	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	206					hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCCGAAAGGAGTCTTCACCAA	0.478																																						uc001giy.1		NA																	0				central_nervous_system(1)	1						c.(616-618)GTC>TTC		peroxiredoxin 6							81.0	80.0	80.0					1																	173456943		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173456943G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.616G>T	1.37:g.173456943G>T	ENSP00000342026:p.Val206Phe						p.V206F	NM_004905	NP_004896	P30041	PRDX6_HUMAN			5	667	+			206					A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.616G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	9.189	1.025489	0.19512	.	.	ENSG00000117592	ENST00000340385	T	0.14022	2.54	5.76	5.76	0.90799	Thioredoxin-like fold (1);	0.115379	0.56097	D	0.000021	T	0.02380	0.0073	N	0.05050	-0.12	0.49798	D	0.999827	B	0.09022	0.002	B	0.11329	0.006	T	0.36578	-0.9742	10	0.07325	T	0.83	-21.913	14.608	0.68495	0.0:0.0:0.8535:0.1465	.	206	P30041	PRDX6_HUMAN	F	206	ENSP00000342026:V206F	ENSP00000342026:V206F	V	+	1	0	PRDX6	171723566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.227000	0.51262	2.880000	0.98712	0.650000	0.86243	GTC		0.478	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		38	42	1	0	1.07e-22	1.21e-22	38	42				
TDRD5	163589	broad.mit.edu	37	1	179659915	179659915	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:179659915C>G	ENST00000367614.1	+	17	3142	c.2783C>G	c.(2782-2784)tCt>tGt	p.S928C	TDRD5_ENST00000444136.1_Missense_Mutation_p.S982C|TDRD5_ENST00000294848.8_Missense_Mutation_p.S928C	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	928					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CGTCAAGAATCTGTAGACCAG	0.438																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2782-2784)TCT>TGT		tudor domain containing 5							80.0	77.0	78.0					1																	179659915		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179659915C>G	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2783C>G	1.37:g.179659915C>G	ENSP00000356586:p.Ser928Cys					TDRD5_uc010pnp.1_Missense_Mutation_p.S982C|TDRD5_uc001gnh.1_Missense_Mutation_p.S483C	p.S928C	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3033	+			928					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2783C>G	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060964	0.36373	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.37235	2.41;2.41;2.58;1.21	5.17	4.24	0.50183	.	0.922456	0.09134	N	0.844033	T	0.43233	0.1238	L	0.39898	1.24	0.27253	N	0.958849	P;P	0.46220	0.874;0.8	P;B	0.50378	0.639;0.319	T	0.32929	-0.9888	10	0.87932	D	0	-18.0993	11.8789	0.52562	0.0:0.8238:0.1762:0.0	.	982;928	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	C	928;928;982;438	ENSP00000356586:S928C;ENSP00000294848:S928C;ENSP00000406052:S982C;ENSP00000410744:S438C	ENSP00000294848:S928C	S	+	2	0	TDRD5	177926538	1.000000	0.71417	0.928000	0.36995	0.246000	0.25737	3.790000	0.55461	1.269000	0.44280	0.655000	0.94253	TCT		0.438	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		13	47	0	0	0	0	13	47				
RGL1	23179	broad.mit.edu	37	1	183816705	183816705	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:183816705A>G	ENST00000360851.3	+	3	322	c.144A>G	c.(142-144)gaA>gaG	p.E48E	RGL1_ENST00000539189.1_Silent_p.E48E|RGL1_ENST00000536277.1_Silent_p.E46E|RGL1_ENST00000304685.4_Silent_p.E83E			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	48					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TACAGGTTGAAGGGGACCAGC	0.418																																						uc001gqo.2		NA																	0				breast(5)|ovary(4)|lung(2)	11						c.(142-144)GAA>GAG		ral guanine nucleotide dissociation							142.0	156.0	151.0					1																	183816705		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816705A>G	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.144A>G	1.37:g.183816705A>G						RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Silent_p.E83E|RGL1_uc010pog.1_Silent_p.E46E|RGL1_uc010poh.1_Silent_p.E46E|RGL1_uc010poi.1_Silent_p.E48E	p.E48E	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			3	301	+			48					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.144A>G																																																																																					0.418	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		3	172	0	0	0	0	3	172				
PPFIA4	8497	broad.mit.edu	37	1	203025593	203025593	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:203025593G>C	ENST00000447715.2	+	23	2572	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q	PPFIA4_ENST00000295706.4_Missense_Mutation_p.E227Q|PPFIA4_ENST00000367240.2_Missense_Mutation_p.E712Q|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E227Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E227Q|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E440Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	711					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGCGGCTAGAGAAGCTTGG	0.567																																						uc001gyz.2		NA																	0				ovary(4)|skin(1)	5						c.(679-681)GAG>CAG		protein tyrosine phosphatase, receptor type, f							34.0	40.0	38.0					1																	203025593		2047	4177	6224	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025593G>C	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2131G>C	1.37:g.203025593G>C	ENSP00000402576:p.Glu711Gln					PPFIA4_uc009xaj.2_Missense_Mutation_p.E858Q|PPFIA4_uc010pqf.1_Missense_Mutation_p.E440Q|PPFIA4_uc001gza.2_Missense_Mutation_p.E227Q|PPFIA4_uc001gzb.1_5'Flank	p.E227Q	NM_015053	NP_055868	O75335	LIPA4_HUMAN			5	1272	+			227					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.679G>C		.	.	.	.	.	.	.	.	.	.	g	31	5.065516	0.93898	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.78	4.78	0.61160	.	0.000000	0.45867	D	0.000336	T	0.42810	0.1219	M	0.70595	2.14	0.58432	D	0.999997	P;B;P;P	0.48640	0.563;0.003;0.913;0.858	B;B;P;P	0.57620	0.412;0.014;0.824;0.672	T	0.28267	-1.0049	10	0.48119	T	0.1	-29.9854	18.0072	0.89213	0.0:0.0:1.0:0.0	.	440;711;227;227	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	Q	712;711;227;440;227	ENSP00000356209:E712Q;ENSP00000402576:E711Q;ENSP00000295706:E227Q;ENSP00000400379:E440Q;ENSP00000272198:E227Q	ENSP00000272198:E227Q	E	+	1	0	PPFIA4	201292216	1.000000	0.71417	0.949000	0.38748	0.985000	0.73830	5.557000	0.67313	2.489000	0.83994	0.457000	0.33378	GAG		0.567	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		8	30	0	0	0	0	8	30				
NSL1	25936	broad.mit.edu	37	1	212965008	212965008	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:212965008C>A	ENST00000366977.3	-	1	116	c.98G>T	c.(97-99)cGa>cTa	p.R33L	TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.R33L|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|NSL1_ENST00000422588.2_Missense_Mutation_p.R33L|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|NSL1_ENST00000473995.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000366975.6_Missense_Mutation_p.R33L|TATDN3_ENST00000526641.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	33					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AAAGTCTTCTCGGGGAGTGGC	0.632																																						uc001hjn.2		NA																	0				skin(1)	1						c.(97-99)CGA>CTA		NSL1, MIND kinetochore complex component isoform							33.0	38.0	36.0					1																	212965008		2202	4298	6500	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212965008C>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.98G>T	1.37:g.212965008C>A	ENSP00000355944:p.Arg33Leu					NSL1_uc001hjm.2_Missense_Mutation_p.R33L|NSL1_uc010pti.1_Missense_Mutation_p.R33L|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	p.R33L	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	132	-			33					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.98G>T	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710608	0.30322	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.48522	1.46;0.81;1.46;0.87	5.12	-0.268	0.12934	.	0.722615	0.13339	N	0.395310	T	0.30198	0.0757	L	0.42245	1.32	0.09310	N	1	B;B;B	0.16166	0.002;0.006;0.016	B;B;B	0.13407	0.003;0.005;0.009	T	0.15925	-1.0420	9	.	.	.	0.0685	0.938	0.01349	0.3241:0.3441:0.1482:0.1836	.	33;33;33	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	L	33	ENSP00000355944:R33L;ENSP00000388406:R33L;ENSP00000355942:R33L;ENSP00000355943:R33L	.	R	-	2	0	NSL1	211031631	0.001000	0.12720	0.136000	0.22124	0.060000	0.15804	-0.384000	0.07389	0.295000	0.22570	-0.142000	0.14014	CGA		0.632	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		31	58	1	0	1.4e-14	1.56e-14	31	58				
PTPN14	5784	broad.mit.edu	37	1	214549657	214549657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:214549657G>A	ENST00000366956.5	-	15	3006	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	938	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACGGATTCGGCTGCGCTCG	0.458																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2812-2814)CGA>TGA		protein tyrosine phosphatase, non-receptor type							170.0	165.0	167.0					1																	214549657		2203	4300	6503	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214549657G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2812C>T	1.37:g.214549657G>A	ENSP00000355923:p.Arg938*					PTPN14_uc010pty.1_Nonsense_Mutation_p.R839*	p.R938*	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	15	3083	-			938			Tyrosine-protein phosphatase.		Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.2812C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	43	10.415788	0.99401	.	.	ENSG00000152104	ENST00000366956	.	.	.	5.12	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0834	0.72133	0.0:0.0:0.8571:0.1429	.	.	.	.	X	938	.	ENSP00000355923:R938X	R	-	1	2	PTPN14	212616280	1.000000	0.71417	0.987000	0.45799	0.739000	0.42172	6.508000	0.73721	1.153000	0.42468	-0.152000	0.13540	CGA		0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		31	55	0	0	0	0	31	55				
LIN9	286826	broad.mit.edu	37	1	226465500	226465500	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:226465500G>A	ENST00000328205.5	-	7	1251	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	LIN9_ENST00000481685.1_Silent_p.L201L|LIN9_ENST00000366801.1_Silent_p.L185L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	220	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCAATAACCAGAGGCAAAGGA	0.333																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2		NA																	0					0						c.(706-708)CTG>TTG		lin-9 homolog							116.0	117.0	117.0					1																	226465500		2203	4300	6503	SO:0001819	synonymous_variant	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226465500G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.706C>T	1.37:g.226465500G>A						LIN9_uc001hqb.2_Silent_p.L201L|LIN9_uc001hqc.2_Silent_p.L168L|LIN9_uc009xel.1_Silent_p.L201L	p.L236L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	7	1016	-	Breast(184;0.158)		220			Sufficient for interaction with RB1.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Silent	SNP	ENST00000328205.5	37	c.706C>T	CCDS1553.1																																																																																				0.333	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		12	48	0	0	0	0	12	48				
OR2M5	127059	broad.mit.edu	37	1	248309245	248309245	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248309245C>T	ENST00000366476.1	+	1	796	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACATCTGATCGCTCCCCTAT	0.522																																						uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(796-798)CGC>TGC		olfactory receptor, family 2, subfamily M,							182.0	164.0	170.0					1																	248309245		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309245C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.796C>T	1.37:g.248309245C>T	ENSP00000355432:p.Arg266Cys						p.R266C	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	796	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.796C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.349547	0.41599	.	.	ENSG00000162727	ENST00000366476	T	0.00137	8.68	3.28	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	1.202520	0.06518	U	0.739175	T	0.00328	0.0010	M	0.72894	2.215	0.09310	N	1	D	0.61697	0.99	P	0.58077	0.832	T	0.48479	-0.9032	10	0.72032	D	0.01	.	3.7514	0.08568	0.1802:0.5149:0.0:0.3049	.	266	A3KFT3	OR2M5_HUMAN	C	266	ENSP00000355432:R266C	ENSP00000355432:R266C	R	+	1	0	OR2M5	246375868	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-3.139000	0.00587	0.475000	0.27415	0.492000	0.49549	CGC		0.522	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		65	94	0	0	0	0	65	94				
OR2T6	254879	broad.mit.edu	37	1	248551737	248551737	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248551737C>A	ENST00000355728.2	+	1	828	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCTGCCTTTTATACCA	0.463																																						uc001iei.1		NA																	0				ovary(2)|skin(1)	3						c.(826-828)GCC>GCA		olfactory receptor, family 2, subfamily T,							128.0	124.0	125.0					1																	248551737		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551737C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.828C>A	1.37:g.248551737C>A							p.A276A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	828	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		276			Helical; Name=7; (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.828C>A	CCDS31114.1																																																																																				0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		16	69	1	0	4.75e-09	5.18e-09	16	69				
USP6NL	9712	broad.mit.edu	37	10	11505446	11505446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:11505446G>A	ENST00000609104.1	-	15	1875	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	USP6NL_ENST00000277575.5_Missense_Mutation_p.S511L|USP6NL_ENST00000379237.2_Missense_Mutation_p.S517L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	494					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTCTGTAGCTGAGACGTCTGA	0.537																																						uc001ikt.3		NA																	0					0						c.(1480-1482)TCA>TTA		USP6 N-terminal like isoform 1							201.0	197.0	198.0					10																	11505446		2011	4187	6198	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505446G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1481C>T	10.37:g.11505446G>A	ENSP00000476462:p.Ser494Leu					USP6NL_uc001iks.1_Missense_Mutation_p.S511L	p.S494L	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1802	-			494					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1481C>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560011	0.45590	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.6	5.91	5.0	0.66597	.	0.314237	0.25189	N	0.032463	T	0.06554	0.0168	L	0.54323	1.7	0.09310	N	1	B;B	0.30439	0.22;0.279	B;B	0.28011	0.058;0.085	T	0.22556	-1.0213	10	0.59425	D	0.04	.	9.9994	0.41920	0.0:0.1253:0.6811:0.1936	.	494;511	Q92738;Q92738-2	US6NL_HUMAN;.	L	494;511;494	ENSP00000277575:S511L;ENSP00000368539:S494L	ENSP00000277575:S511L	S	-	2	0	USP6NL	11545452	0.449000	0.25689	0.020000	0.16555	0.024000	0.10985	1.319000	0.33655	1.479000	0.48272	0.462000	0.41574	TCA		0.537	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		46	206	0	0	0	0	46	206				
MYO3A	53904	broad.mit.edu	37	10	26409613	26409613	+	Silent	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:26409613T>C	ENST00000265944.5	+	18	1951	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	595	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAACTTGGTAGTATATACA	0.438																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1783-1785)GGT>GGC		myosin IIIA							205.0	167.0	180.0					10																	26409613		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26409613T>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1785T>C	10.37:g.26409613T>C						MYO3A_uc009xko.1_Silent_p.G595G|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.G595G	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			18	2145	+			595			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1785T>C	CCDS7148.1																																																																																				0.438	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		12	70	0	0	0	0	12	70				
TSPAN14	81619	broad.mit.edu	37	10	82269077	82269077	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:82269077C>T	ENST00000429989.3	+	5	523	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.L100L|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372158.1_Silent_p.L100L|TSPAN14_ENST00000372164.3_Silent_p.L83L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	100					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCATCGTGCTCATCTTCTTCC	0.612																																						uc001kcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(298-300)CTC>CTT		tetraspanin 14 isoform 1							119.0	95.0	103.0					10																	82269077		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82269077C>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.300C>T	10.37:g.82269077C>T						TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L83L	p.L100L	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		5	407	+			100			Helical; (Potential).		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.300C>T	CCDS7369.1																																																																																				0.612	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		23	28	0	0	0	0	23	28				
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	C	rs201349133		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:104184490G>C	ENST00000369937.4	-	3	279	c.134C>G	c.(133-135)tCg>tGg	p.S45W	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587																																						uc001kvn.2		NA																	0					0						c.(133-135)TCG>TGG		CUE domain containing 2							55.0	59.0	58.0					10																	104184490		1902	4121	6023	SO:0001583	missense	79004					cytoplasm|nucleus	protein binding	g.chr10:104184490G>C	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.134C>G	10.37:g.104184490G>C	ENSP00000358953:p.Ser45Trp					CUEDC2_uc001kvm.2_5'Flank	p.S45W	NM_024040	NP_076945	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	285	-		Colorectal(252;0.122)	45					D3DR88|Q9BWG8	Missense_Mutation	SNP	ENST00000369937.4	37	c.134C>G	CCDS41566.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969003	0.53614	.	.	ENSG00000107874	ENST00000369937	D	0.87029	-2.2	5.36	4.46	0.54185	.	0.193649	0.45361	D	0.000376	D	0.85340	0.5674	N	0.19112	0.55	0.47547	D	0.999454	D	0.71674	0.998	P	0.61477	0.889	D	0.85815	0.1382	10	0.72032	D	0.01	-1.2319	8.4217	0.32705	0.078:0.0:0.7691:0.1529	.	45	Q9H467	CUED2_HUMAN	W	45	ENSP00000358953:S45W	ENSP00000358953:S45W	S	-	2	0	CUEDC2	104174480	1.000000	0.71417	0.830000	0.32933	0.986000	0.74619	5.468000	0.66743	1.410000	0.46936	0.561000	0.74099	TCG		0.587	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		30	43	0	0	0	0	30	43				
DOCK1	1793	broad.mit.edu	37	10	129141970	129141970	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:129141970G>C	ENST00000280333.6	+	31	3230	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1041					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTGCAACTGGAGAATTTTTC	0.433																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(3121-3123)GAG>CAG		dedicator of cytokinesis 1							85.0	77.0	80.0					10																	129141970		1854	4101	5955	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129141970G>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3121G>C	10.37:g.129141970G>C	ENSP00000280333:p.Glu1041Gln					DOCK1_uc010qun.1_Missense_Mutation_p.E1062Q|DOCK1_uc009yaq.2_Missense_Mutation_p.E36Q	p.E1041Q	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	31	3185	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1041					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3121G>C		.	.	.	.	.	.	.	.	.	.	G	20.2	3.953992	0.73902	.	.	ENSG00000150760	ENST00000280333	T	0.56103	0.48	4.55	4.55	0.56014	.	0.059806	0.64402	D	0.000004	T	0.77644	0.4161	M	0.89601	3.045	0.58432	D	0.999999	P;D;P	0.76494	0.886;0.999;0.79	B;D;B	0.80764	0.411;0.994;0.318	D	0.83385	0.0014	10	0.72032	D	0.01	.	17.1745	0.86838	0.0:0.0:1.0:0.0	.	1041;1107;1041	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Q	1041	ENSP00000280333:E1041Q	ENSP00000280333:E1041Q	E	+	1	0	DOCK1	129031960	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.457000	0.97630	2.371000	0.80710	0.456000	0.33151	GAG		0.433	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		2	7	0	0	0	0	2	7				
HBD	3045	broad.mit.edu	37	11	5255269	5255269	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:5255269C>G	ENST00000380299.3	-	2	481	c.267G>C	c.(265-267)ctG>ctC	p.L89L	HBD_ENST00000292901.3_Silent_p.L89L	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	89			L -> V (in Lucania; dbSNP:rs34933313). {ECO:0000269|PubMed:12402333}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTCACTCAGCTGAGAAA	0.493																																						uc001maf.1		NA																	0				ovary(1)	1						c.(265-267)CTG>CTC		delta globin							123.0	105.0	111.0					11																	5255269		2201	4298	6499	SO:0001819	synonymous_variant	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255269C>G	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.267G>C	11.37:g.5255269C>G							p.L89L	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	462	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	89					Q3Y5H3|Q8WXT7	Silent	SNP	ENST00000380299.3	37	c.267G>C	CCDS31376.1																																																																																				0.493	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		30	60	0	0	0	0	30	60				
ABCC8	6833	broad.mit.edu	37	11	17427072	17427072	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:17427072C>G	ENST00000389817.3	-	27	3436	c.3368G>C	c.(3367-3369)aGa>aCa	p.R1123T	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1124T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGATGAAAATCTGTTCAGGAT	0.512																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3367-3369)AGA>ACA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						166.0	164.0	165.0					11																	17427072		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17427072C>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3368G>C	11.37:g.17427072C>G	ENSP00000374467:p.Arg1123Thr						p.R1123T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	27	3494	-			1123			Cytoplasmic (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3368G>C	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176366	0.94846	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.93488	-3.23;-3.23	5.75	5.75	0.90469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	H	0.98901	4.365	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.99257	1.0889	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	1123	Q09428	ABCC8_HUMAN	T	1123;1124	ENSP00000374467:R1123T;ENSP00000303960:R1124T	ENSP00000303960:R1124T	R	-	2	0	ABCC8	17383648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.725000	0.93324	0.655000	0.94253	AGA		0.512	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		46	101	0	0	0	0	46	101				
SLC6A5	9152	broad.mit.edu	37	11	20622705	20622705	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:20622705C>G	ENST00000525748.1	+	2	307	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	12					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGAATAAACTGCCAGCCAA	0.572																																						uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(34-36)CTG>GTG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						9.0	11.0	10.0					11																	20622705		2106	4248	6354	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622705C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.34C>G	11.37:g.20622705C>G	ENSP00000434364:p.Leu12Val					SLC6A5_uc009yic.2_5'UTR	p.L12V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			2	307	+			12			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.34C>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951739	0.34471	.	.	ENSG00000165970	ENST00000525748	T	0.71461	-0.57	5.7	5.7	0.88788	.	2.697670	0.00894	N	0.002265	T	0.59918	0.2229	N	0.08118	0	0.20764	N	0.99985	B	0.10296	0.003	B	0.11329	0.006	T	0.48387	-0.9040	10	0.54805	T	0.06	.	13.3797	0.60761	0.1574:0.8426:0.0:0.0	.	12	Q9Y345	SC6A5_HUMAN	V	12	ENSP00000434364:L12V	ENSP00000298923:L12V	L	+	1	2	SLC6A5	20579281	0.995000	0.38212	0.827000	0.32855	0.560000	0.35617	3.689000	0.54706	2.695000	0.91970	0.462000	0.41574	CTG		0.572	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		6	17	0	0	0	0	6	17				
CATSPER1	117144	broad.mit.edu	37	11	65793518	65793518	+	Silent	SNP	G	G	A	rs575875557		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:65793518G>A	ENST00000312106.5	-	1	470	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	111	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCCTCACCGTAGGAACGGT	0.597																																						uc001ogt.2		NA																	0				ovary(2)	2						c.(331-333)TAC>TAT		sperm-associated cation channel 1							114.0	104.0	107.0					11																	65793518		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793518G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.333C>T	11.37:g.65793518G>A							p.Y111Y	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	471	-			111			His-rich.|Cytoplasmic (Potential).		Q96P76	Silent	SNP	ENST00000312106.5	37	c.333C>T	CCDS8127.1																																																																																				0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		22	125	0	0	0	0	22	125				
ARAP1	116985	broad.mit.edu	37	11	72406446	72406446	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406446C>G	ENST00000393609.3	-	26	3764	c.3562G>C	c.(3562-3564)Gag>Cag	p.E1188Q	ARAP1_ENST00000334211.8_Missense_Mutation_p.E943Q|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.E1188Q|ARAP1_ENST00000429686.1_Missense_Mutation_p.E882Q|ARAP1_ENST00000455638.2_Missense_Mutation_p.E1188Q|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.E948Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.E943Q	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1188	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATATGCTGCTCAGTCTCTGCC	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(3562-3564)GAG>CAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							101.0	86.0	91.0					11																	72406446		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406446C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3562G>C	11.37:g.72406446C>G	ENSP00000377233:p.Glu1188Gln					ARAP1_uc001osv.2_Missense_Mutation_p.E1188Q|ARAP1_uc001osr.2_Missense_Mutation_p.E948Q|ARAP1_uc001oss.2_Missense_Mutation_p.E943Q|ARAP1_uc009yth.2_Missense_Mutation_p.E882Q|ARAP1_uc010rre.1_Missense_Mutation_p.E943Q	p.E1188Q	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			26	3751	-			1188			Ras-associating.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3562G>C	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297192	0.60086	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	4.53	4.53	0.55603	Ras-association (2);	0.243191	0.32161	N	0.006487	T	0.33498	0.0865	L	0.47716	1.5	0.41694	D	0.989361	B;D;P;B;B	0.62365	0.254;0.991;0.51;0.254;0.214	B;D;B;B;B	0.64776	0.431;0.929;0.406;0.311;0.305	T	0.05194	-1.0900	10	0.52906	T	0.07	.	16.2049	0.82120	0.0:1.0:0.0:0.0	.	943;882;1188;1188;948	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Q	1188;1188;948;943;1188;943;882	ENSP00000352332:E1188Q;ENSP00000390461:E1188Q;ENSP00000377230:E948Q;ENSP00000335506:E943Q;ENSP00000377233:E1188Q;ENSP00000392264:E943Q;ENSP00000403127:E882Q	ENSP00000335506:E943Q	E	-	1	0	ARAP1	72084094	0.978000	0.34361	0.914000	0.36105	0.752000	0.42762	2.463000	0.45058	2.254000	0.74563	0.460000	0.39030	GAG		0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		14	52	0	0	0	0	14	52				
ARAP1	116985	broad.mit.edu	37	11	72406880	72406880	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406880C>T	ENST00000393609.3	-	24	3505	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.M1101I|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1101	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTGCACGTTCATCTGGTTCG	0.537																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(3301-3303)ATG>ATA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							112.0	85.0	94.0					11																	72406880		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406880C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3303G>A	11.37:g.72406880C>T	ENSP00000377233:p.Met1101Ile					ARAP1_uc001osv.2_Missense_Mutation_p.M1101I|ARAP1_uc001osr.2_Missense_Mutation_p.M861I|ARAP1_uc001oss.2_Missense_Mutation_p.M856I|ARAP1_uc009yth.2_Missense_Mutation_p.M795I|ARAP1_uc010rre.1_Missense_Mutation_p.M856I	p.M1101I	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			24	3492	-			1101			Rho-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3303G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172931	0.78452	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.77	4.77	0.60923	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	H	0.97758	4.07	0.49687	D	0.999815	D;D;D;D;D	0.76494	0.999;0.988;0.997;0.999;0.999	D;D;D;D;D	0.77557	0.977;0.985;0.99;0.989;0.961	D	0.86181	0.1606	10	0.87932	D	0	.	16.3644	0.83308	0.0:1.0:0.0:0.0	.	856;795;1101;1101;861	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	I	1101;1101;861;856;1101;856;795	ENSP00000352332:M1101I;ENSP00000390461:M1101I;ENSP00000377230:M861I;ENSP00000335506:M856I;ENSP00000377233:M1101I;ENSP00000392264:M856I;ENSP00000403127:M795I	ENSP00000335506:M856I	M	-	3	0	ARAP1	72084528	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.394000	0.79862	2.210000	0.71456	0.460000	0.39030	ATG		0.537	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		14	23	0	0	0	0	14	23				
C2CD3	26005	broad.mit.edu	37	11	73789689	73789689	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:73789689C>G	ENST00000334126.7	-	23	4300	c.4074G>C	c.(4072-4074)aaG>aaC	p.K1358N	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1358N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1358					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACCCACGATCTTCTGCATGA	0.498																																						uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(4072-4074)AAG>AAC		C2 calcium-dependent domain containing 3							79.0	73.0	75.0					11																	73789689		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789689C>G	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4074G>C	11.37:g.73789689C>G	ENSP00000334379:p.Lys1358Asn					C2CD3_uc001out.2_RNA	p.K1358N	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			23	4301	-	Breast(11;4.16e-06)		1358					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4074G>C		.	.	.	.	.	.	.	.	.	.	C	16.50	3.139982	0.56936	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14766	2.88;2.89;2.48	5.48	3.62	0.41486	.	0.676240	0.15310	N	0.269125	T	0.13798	0.0334	L	0.56769	1.78	0.28591	N	0.909626	P	0.35272	0.493	B	0.33620	0.167	T	0.10847	-1.0612	10	0.45353	T	0.12	-11.3714	7.0289	0.24956	0.0:0.5903:0.2475:0.1622	.	1358	Q4AC94-1	.	N	1358;1358;1358;166	ENSP00000334379:K1358N;ENSP00000323339:K1358N;ENSP00000388750:K166N	ENSP00000323339:K1358N	K	-	3	2	C2CD3	73467337	0.997000	0.39634	0.998000	0.56505	0.942000	0.58702	1.156000	0.31712	0.691000	0.31592	0.655000	0.94253	AAG		0.498	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		41	71	0	0	0	0	41	71				
TENM4	26011	broad.mit.edu	37	11	78381038	78381038	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:78381038C>T	ENST00000278550.7	-	32	6814	c.6352G>A	c.(6352-6354)Gag>Aag	p.E2118K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2118					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCAAACTGCTCTGTCTTGCCT	0.478																																						uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(6352-6354)GAG>AAG		odz, odd Oz/ten-m homolog 4							62.0	61.0	61.0					11																	78381038		2072	4224	6296	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78381038C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6352G>A	11.37:g.78381038C>T	ENSP00000278550:p.Glu2118Lys					ODZ4_uc001ozk.3_Missense_Mutation_p.E343K|ODZ4_uc009yvb.1_Missense_Mutation_p.E702K	p.E2118K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6815	-			2118			YD 14.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6352G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461919	0.84425	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90385	-2.66;0.75	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.94443	0.7660	9	.	.	.	.	18.1853	0.89791	0.0:1.0:0.0:0.0	.	2118	Q6N022	TEN4_HUMAN	K	2118;582	ENSP00000278550:E2118K;ENSP00000431711:E582K	.	E	-	1	0	ODZ4	78058686	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GAG		0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			19	26	0	0	0	0	19	26				
CASP1	834	broad.mit.edu	37	11	104901918	104901918	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:104901918T>C	ENST00000533400.1	-	4	462	c.427A>G	c.(427-429)Agg>Ggg	p.R143G	CASP1_ENST00000528974.1_Missense_Mutation_p.R104G|CASP1_ENST00000594519.1_Missense_Mutation_p.R50G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.R122G|CASP1_ENST00000534497.1_Missense_Mutation_p.R50G|CASP1_ENST00000527979.1_Missense_Mutation_p.R106G|CASP1_ENST00000526568.1_Missense_Mutation_p.R50G|CASP1_ENST00000525825.1_Missense_Mutation_p.R122G|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.R143G|CASP1_ENST00000593315.1_Missense_Mutation_p.R122G|CASP1_ENST00000446369.1_Missense_Mutation_p.R50G|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.R143G	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTCCATATCCTTTGAGCTTCT	0.507																																					NSCLC(41;1246 1743 4934)	uc010rve.1		NA																	0				ovary(2)	2						c.(427-429)AGG>GGG		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						117.0	104.0	108.0					11																	104901918		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104901918T>C	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.427A>G	11.37:g.104901918T>C	ENSP00000433138:p.Arg143Gly					CASP1_uc001pig.2_Missense_Mutation_p.R50G|CASP1_uc001pik.2_Missense_Mutation_p.R106G|CASP1_uc010rvf.1_Missense_Mutation_p.R50G|CASP1_uc010rvg.1_Missense_Mutation_p.R122G|CASP1_uc010rvh.1_Missense_Mutation_p.R50G|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.R143G|CASP1_uc009yxi.2_Missense_Mutation_p.R122G|CASP1_uc010rvj.1_Missense_Mutation_p.R143G|CASP1_uc009yxj.2_Intron|CASP1_uc010rvk.1_Missense_Mutation_p.R104G|CASP1_uc010rvl.1_Missense_Mutation_p.R143G	p.R143G	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	4	444	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	143					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.427A>G	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.531777	0.27387	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T	0.42513	4.03;4.03;4.03;4.03;0.97;4.03;4.03;0.97;4.03	4.24	3.02	0.34903	.	0.918769	0.09374	N	0.810834	T	0.42698	0.1214	M	0.78049	2.395	0.09310	N	1	P;B;P;B;B;B;B	0.51537	0.605;0.001;0.946;0.001;0.001;0.015;0.004	B;B;B;B;B;B;B	0.40477	0.33;0.003;0.324;0.003;0.005;0.04;0.01	T	0.42666	-0.9438	10	0.49607	T	0.09	.	7.2942	0.26383	0.0:0.0:0.2255:0.7745	.	143;104;50;122;143;106;50	B4DKN4;B4DVD8;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	G	50;106;143;143;50;122;122;50;104	ENSP00000434250:R50G;ENSP00000432340:R106G;ENSP00000433138:R143G;ENSP00000410076:R143G;ENSP00000403260:R50G;ENSP00000376844:R122G;ENSP00000434779:R122G;ENSP00000436875:R50G;ENSP00000434259:R104G	ENSP00000376844:R122G	R	-	1	2	CASP1	104407128	0.021000	0.18746	0.003000	0.11579	0.001000	0.01503	0.977000	0.29475	1.898000	0.54952	0.455000	0.32223	AGG		0.507	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		16	24	0	0	0	0	16	24				
KMT2A	4297	broad.mit.edu	37	11	118339526	118339526	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:118339526G>A	ENST00000389506.5	+	2	469	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	KMT2A_ENST00000354520.4_Missense_Mutation_p.V157I|KMT2A_ENST00000534358.1_Missense_Mutation_p.V157I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	157					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGATGAAGAAGTCAGAGTGCG	0.408																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(469-471)GTC>ATC		myeloid/lymphoid or mixed-lineage leukemia							155.0	131.0	139.0					11																	118339526		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118339526G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.469G>A	11.37:g.118339526G>A	ENSP00000374157:p.Val157Ile					MLL_uc001ptb.2_Missense_Mutation_p.V157I|MLL_uc001psz.1_Missense_Mutation_p.V190I|MLL_uc001ptd.1_5'UTR	p.V157I	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	2	492	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	157					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.469G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712659	0.68730	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469;ENST00000527869;ENST00000533790;ENST00000389507	D;T;D;T	0.81579	-1.51;2.24;-1.51;-1.48	5.46	5.46	0.80206	.	0.333405	0.30101	N	0.010413	T	0.64327	0.2588	N	0.12182	0.205	0.29580	N	0.849251	B;B;B	0.17038	0.005;0.005;0.02	B;B;B	0.12156	0.004;0.004;0.007	T	0.58567	-0.7614	10	0.37606	T	0.19	.	10.2592	0.43416	0.0724:0.0:0.7912:0.1364	.	157;157;190	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	I	157;190;157;157;190;107;74;16	ENSP00000436786:V157I;ENSP00000432391:V190I;ENSP00000374157:V157I;ENSP00000346516:V157I	ENSP00000333556:V190I	V	+	1	0	MLL	117844736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.936000	0.48971	2.557000	0.86248	0.563000	0.77884	GTC		0.408	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		19	28	0	0	0	0	19	28				
TRAPPC4	51399	broad.mit.edu	37	11	118895769	118895769	+	IGR	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:118895769C>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000525102.1_5'UTR|TRAPPC4_ENST00000533058.1_3'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.G402R|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G308R|SLC37A4_ENST00000357590.5_Missense_Mutation_p.G403R|SLC37A4_ENST00000545985.1_Missense_Mutation_p.G381R	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGGGCAGCCCAGCCAGAAAG	0.582																																						uc010rys.1		NA																	0				large_intestine(1)	1						c.(1141-1143)GGG>AGG		solute carrier family 37 (glucose-6-phosphate							57.0	59.0	59.0					11																	118895769		1995	4165	6160	SO:0001628	intergenic_variant	2542	Glycogen_Storage_Disease_type_Ib			glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity	g.chr11:118895769C>T	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895769C>T						SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.G403R|SLC37A4_uc010ryt.1_Missense_Mutation_p.G308R|SLC37A4_uc001pus.2_Missense_Mutation_p.G381R	p.G381R	NM_001164277	NP_001157749	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	11	1898	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	381			Helical; (Potential).		A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.1141G>A	CCDS8407.1																																																																																				0.582	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		30	53	0	0	0	0	30	53				
MFRP	83552	broad.mit.edu	37	11	119214569	119214569	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:119214569C>A	ENST00000530681.1	-	9	1225	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	MFRP_ENST00000529147.1_5'Flank|MFRP_ENST00000555262.1_Missense_Mutation_p.V361L|MFRP_ENST00000449574.2_Missense_Mutation_p.V361L|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	361	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTCTCATACACCTCCACGTAG	0.582																																						uc001pwj.2		NA																	0					0						c.(1081-1083)GTG>TTG		membrane frizzled-related protein							168.0	146.0	153.0					11																	119214569		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119214569C>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1081G>T	11.37:g.119214569C>A	ENSP00000456533:p.Val361Leu					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Intron	p.V361L	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	9	1241	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1081G>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205713	0.58234	.	.	ENSG00000235718	ENST00000555262;ENST00000449574	T;T	0.33865	1.39;1.39	5.18	4.24	0.50183	CUB (5);	0.078291	0.50627	D	0.000103	T	0.46288	0.1385	M	0.70595	2.14	0.44432	D	0.997358	D	0.53745	0.962	P	0.51866	0.682	T	0.45644	-0.9247	10	0.54805	T	0.06	-16.1236	10.1583	0.42836	0.0:0.8382:0.0:0.1618	.	361	Q9BY79	MFRP_HUMAN	L	361	ENSP00000450509:V361L;ENSP00000391664:V361L	ENSP00000391664:V361L	V	-	1	0	MFRP	118719779	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.558000	0.53749	2.576000	0.86940	0.563000	0.77884	GTG		0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		38	83	1	0	4.33e-17	4.86e-17	38	83				
EI24	9538	broad.mit.edu	37	11	125453532	125453532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:125453532C>A	ENST00000278903.6	+	12	1216	c.974C>A	c.(973-975)tCa>tAa	p.S325*	EI24_ENST00000343678.4_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	326					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAGTTCCCTTCACCGCATCCG	0.552																																						uc001qca.2		NA																	0				ovary(1)	1						c.(976-978)TCA>TAA		etoposide induced 2.4 isoform 1							49.0	47.0	48.0					11																	125453532		1932	4128	6060	SO:0001587	stop_gained	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453532C>A	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.974C>A	11.37:g.125453532C>A	ENSP00000278903:p.Ser325*					EI24_uc001qcb.2_3'UTR|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Nonsense_Mutation_p.S327*|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Nonsense_Mutation_p.S313*|EI24_uc010sbf.1_RNA	p.S326*	NM_004879	NP_004870	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	12	1219	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	326					A8K7D6|B4DKL6|Q9BUQ1	Nonsense_Mutation	SNP	ENST00000278903.6	37	c.977C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.001265|6.001265	0.97189|0.97189	.|.	.|.	ENSG00000149547|ENSG00000149547	ENST00000526081|ENST00000278903	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.221571	.|0.38778	.|N	.|0.001572	T|.	0.41305|.	0.1153|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30736|.	-0.9968|.	5|.	0.87932|0.02654	D|T	0|1	.|.	14.0515|14.0515	0.64739|0.64739	0.0:0.8489:0.1511:0.0|0.0:0.8489:0.1511:0.0	.|.	.|.	.|.	.|.	L|X	24|325	.|.	ENSP00000437106:F24L|ENSP00000278903:S325X	F|S	+|+	3|2	2|0	EI24|EI24	124958742|124958742	0.999000|0.999000	0.42202|0.42202	0.973000|0.973000	0.42090|0.42090	0.988000|0.988000	0.76386|0.76386	5.177000|5.177000	0.65032|0.65032	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.552	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		15	22	1	0	1.36e-06	1.46e-06	15	22				
SLCO1A2	6579	broad.mit.edu	37	12	21471722	21471722	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:21471722C>G	ENST00000307378.6	-	4	916	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E64Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E66Q|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	66					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTACCAATCTCAAAGCTTCCA	0.328																																						uc001rer.2		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(196-198)GAG>CAG		organic anion transporting polypeptide A							89.0	89.0	89.0					12																	21471722		2202	4298	6500	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21471722C>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.196G>C	12.37:g.21471722C>G	ENSP00000305974:p.Glu66Gln					SLCO1A2_uc001res.2_Missense_Mutation_p.E66Q|SLCO1A2_uc010siq.1_5'UTR|SLCO1A2_uc010sio.1_5'UTR|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.E64Q|SLCO1A2_uc001reu.2_Missense_Mutation_p.E46Q	p.E66Q	NM_021094	NP_066580	P46721	SO1A2_HUMAN			2	447	-			66			Helical; Name=2; (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.196G>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245275	0.95272	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443;ENST00000421294;ENST00000450590;ENST00000435179;ENST00000445053	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.87547	2.89	0.53688	D	0.999974	D;D;D	0.69078	0.994;0.997;0.996	D;D;D	0.68039	0.91;0.911;0.955	T	0.78033	-0.2362	10	0.87932	D	0	.	19.4147	0.94689	0.0:1.0:0.0:0.0	.	46;64;66	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	Q	66;66;64;66;66;66;66;66;64	ENSP00000305974:E66Q;ENSP00000393973:E66Q;ENSP00000375088:E64Q;ENSP00000416190:E66Q;ENSP00000409314:E66Q;ENSP00000390572:E66Q;ENSP00000407462:E66Q;ENSP00000401195:E66Q;ENSP00000409691:E64Q	ENSP00000305974:E66Q	E	-	1	0	SLCO1A2	21362989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.043000	0.76572	2.683000	0.91414	0.655000	0.94253	GAG		0.328	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		23	61	0	0	0	0	23	61				
LMNTD1	160492	broad.mit.edu	37	12	25672833	25672833	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:25672833G>C	ENST00000282881.6	-	6	1061	c.912C>G	c.(910-912)atC>atG	p.I304M	IFLTD1_ENST00000539744.1_Missense_Mutation_p.I207M|IFLTD1_ENST00000458174.2_Missense_Mutation_p.I325M|IFLTD1_ENST00000413632.2_Missense_Mutation_p.I285M|IFLTD1_ENST00000445693.1_Missense_Mutation_p.I241M	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		304					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GATAATTTGAGATATCTTTCT	0.373																																						uc001rgs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(910-912)ATC>ATG		intermediate filament tail domain containing 1							219.0	196.0	204.0					12																	25672833		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25672833G>C																												ENST00000282881.6:c.912C>G	12.37:g.25672833G>C	ENSP00000282881:p.Ile304Met					IFLTD1_uc001rgt.1_Missense_Mutation_p.I207M|IFLTD1_uc010sji.1_Missense_Mutation_p.I325M|IFLTD1_uc010sjj.1_Missense_Mutation_p.I241M|IFLTD1_uc009zjc.2_Missense_Mutation_p.I285M	p.I304M	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			6	1062	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		304					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.912C>G	CCDS8704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.975920|1.975920	0.34848|0.34848	.|.	.|.	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000539523;ENST00000545543|ENST00000543629	T;T;T;T;T;T;T|.	0.23754|.	2.64;2.64;2.65;2.62;2.47;1.89;2.46|.	5.05|5.05	3.2|3.2	0.36748|0.36748	.|.	.|.	.|.	.|.	.|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.61080|.	0.989;0.989;0.989;0.981|.	P;P;P;P|.	0.55112|.	0.769;0.769;0.769;0.592|.	T|T	0.18840|0.18840	-1.0324|-1.0324	9|5	0.66056|.	D|.	0.02|.	-0.3197|-0.3197	6.2068|6.2068	0.20608|0.20608	0.0936:0.0:0.7239:0.1825|0.0936:0.0:0.7239:0.1825	.|.	241;325;285;304|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	M|V	304;207;325;241;285;21;134|79	ENSP00000282881:I304M;ENSP00000443132:I207M;ENSP00000407353:I325M;ENSP00000407043:I241M;ENSP00000393150:I285M;ENSP00000438160:I21M;ENSP00000443596:I134M|.	ENSP00000282881:I304M|.	I|L	-|-	3|1	3|0	IFLTD1|IFLTD1	25564100|25564100	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.006000|0.006000	0.05464|0.05464	-0.298000|-0.298000	0.08265|0.08265	0.702000|0.702000	0.31825|0.31825	-0.224000|-0.224000	0.12420|0.12420	ATC|CTC		0.373	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			18	40	0	0	0	0	18	40				
KANSL2	54934	broad.mit.edu	37	12	49073534	49073534	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:49073534C>T	ENST00000420613.2	-	3	381	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	KANSL2_ENST00000553086.1_Missense_Mutation_p.G112S|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.G295S	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	112					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.G112C(2)									AGTGTTTCACCCACAGGCCCT	0.507																																						uc001rrx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(334-336)GGT>AGT		hypothetical protein LOC54934							47.0	46.0	46.0					12																	49073534		1911	4137	6048	SO:0001583	missense	54934							g.chr12:49073534C>T	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.334G>A	12.37:g.49073534C>T	ENSP00000415436:p.Gly112Ser					C12orf41_uc001rrw.2_5'UTR|C12orf41_uc001rrz.2_Missense_Mutation_p.G295S|C12orf41_uc001rry.2_RNA	p.G112S	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			3	409	-			112					Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	c.334G>A	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	9.314	1.056367	0.19907	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.84	5.84	0.93424	.	0.163773	0.53938	D	0.000041	T	0.50069	0.1594	N	0.02315	-0.6	0.80722	D	1	B;B	0.17465	0.022;0.0	B;B	0.14023	0.01;0.001	T	0.52283	-0.8596	9	.	.	.	-17.7926	8.5583	0.33494	0.0:0.7653:0.155:0.0797	.	295;112	F8VX10;Q9H9L4	.;CL041_HUMAN	S	295;112;112;49	ENSP00000449747:G295S;ENSP00000415436:G112S;ENSP00000448833:G112S;ENSP00000448129:G49S	.	G	-	1	0	C12orf41	47359801	0.972000	0.33761	1.000000	0.80357	0.994000	0.84299	0.985000	0.29578	2.754000	0.94517	0.655000	0.94253	GGT		0.507	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		6	17	0	0	0	0	6	17				
EIF4B	1975	broad.mit.edu	37	12	53410267	53410267	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:53410267G>C	ENST00000262056.9	+	2	350	c.24G>C	c.(22-24)aaG>aaC	p.K8N	EIF4B_ENST00000416762.3_Missense_Mutation_p.K8N|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.K8N|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAAAAAAGAAGAATAAGAAGG	0.393																																						uc001sbh.3		NA																	0				breast(1)|kidney(1)	2						c.(22-24)AAG>AAC		eukaryotic translation initiation factor 4B							73.0	69.0	70.0					12																	53410267		1830	4082	5912	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53410267G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.24G>C	12.37:g.53410267G>C	ENSP00000262056:p.Lys8Asn					EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.K8N|EIF4B_uc010snv.1_Missense_Mutation_p.K8N|EIF4B_uc001sbi.2_5'UTR	p.K8N	NM_001417	NP_001408	P23588	IF4B_HUMAN			2	230	+			8					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.24G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179808	0.38511	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	4.52	4.52	0.55395	.	0.232375	0.42420	D	0.000704	D	0.90672	0.7074	L	0.37630	1.12	0.44214	D	0.997048	B;B;B	0.20550	0.046;0.006;0.006	B;B;B	0.15484	0.013;0.006;0.006	D	0.87191	0.2234	10	0.27082	T	0.32	.	16.6947	0.85332	0.0:0.0:1.0:0.0	.	8;8;8	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	N	8	ENSP00000262056:K8N;ENSP00000388806:K8N;ENSP00000412530:K8N;ENSP00000449746:K8N;ENSP00000450324:K8N	ENSP00000262056:K8N	K	+	3	2	EIF4B	51696534	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.590000	0.53979	2.442000	0.82660	0.462000	0.41574	AAG		0.393	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		10	29	0	0	0	0	10	29				
TIMELESS	8914	broad.mit.edu	37	12	56816656	56816656	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:56816656C>T	ENST00000553532.1	-	19	2563	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E804K					timeless circadian clock									p.E805K(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATAGCCCTCAGTCATCTCT	0.498																																						uc001slf.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(2413-2415)GAG>AAG		timeless homolog							88.0	87.0	87.0					12																	56816656		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56816656C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2413G>A	12.37:g.56816656C>T	ENSP00000450607:p.Glu805Lys						p.E805K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			19	2581	-			805						Missense_Mutation	SNP	ENST00000553532.1	37	c.2413G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898288	0.91962	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.11604	2.76;2.76	5.38	4.47	0.54385	Timeless C-terminal (1);	0.050947	0.85682	D	0.000000	T	0.25901	0.0631	L	0.55990	1.75	0.80722	D	1	P	0.47191	0.891	P	0.61275	0.886	T	0.00673	-1.1616	10	0.39692	T	0.17	-17.8025	14.9658	0.71193	0.0:0.8508:0.1492:0.0	.	805	Q9UNS1	TIM_HUMAN	K	804;805	ENSP00000229201:E804K;ENSP00000450607:E805K	ENSP00000229201:E805K	E	-	1	0	TIMELESS	55102923	1.000000	0.71417	0.899000	0.35326	0.978000	0.69477	4.539000	0.60657	1.380000	0.46344	0.591000	0.81541	GAG		0.498	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		38	59	0	0	0	0	38	59				
LGR5	8549	broad.mit.edu	37	12	71965319	71965319	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:71965319G>C	ENST00000266674.5	+	12	1407	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	LGR5_ENST00000540815.2_Missense_Mutation_p.D342H|LGR5_ENST00000536515.1_Missense_Mutation_p.D294H			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	366					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTATTAGAAGATTTACCCAG	0.338																																						uc001swl.2		NA																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1096-1098)GAT>CAT		leucine-rich repeat-containing G protein-coupled							103.0	98.0	100.0					12																	71965319		2203	4299	6502	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71965319G>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1096G>C	12.37:g.71965319G>C	ENSP00000266674:p.Asp366His					LGR5_uc001swm.2_Missense_Mutation_p.D342H|LGR5_uc001swn.1_RNA	p.D366H	NM_003667	NP_003658	O75473	LGR5_HUMAN			12	1144	+			366			LRR 13.|Extracellular (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1096G>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162382	0.57368	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.26223	5.36;1.75;1.76	5.67	5.67	0.87782	.	0.082013	0.52532	D	0.000078	T	0.17066	0.0410	N	0.02985	-0.445	0.49687	D	0.999818	B;B	0.27498	0.159;0.18	B;B	0.34242	0.077;0.178	T	0.25537	-1.0129	10	0.66056	D	0.02	.	18.7588	0.91842	0.0:0.0:1.0:0.0	.	342;366	O75473-2;O75473	.;LGR5_HUMAN	H	366;366;294;342	ENSP00000266674:D366H;ENSP00000443033:D294H;ENSP00000441035:D342H	ENSP00000266674:D366H	D	+	1	0	LGR5	70251586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.517000	0.53443	2.697000	0.92050	0.655000	0.94253	GAT		0.338	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		7	28	0	0	0	0	7	28				
KSR2	283455	broad.mit.edu	37	12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A	rs373055394		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:118105354G>A	ENST00000339824.5	-	5	1823	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	KSR2_ENST00000425217.1_Missense_Mutation_p.R337C|KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	366					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602																																						uc001two.2		NA																	1	Substitution - Missense(1)		prostate(1)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1009-1011)CGC>TGC		kinase suppressor of ras 2		G	CYS/ARG	1,4115		0,1,2057	49.0	55.0	53.0		1009	4.8	1.0	12		53	1,8361		0,1,4180	no	missense	KSR2	NM_173598.4	180	0,2,6237	AA,AG,GG		0.012,0.0243,0.016	probably-damaging	337/922	118105354	2,12476	2058	4181	6239	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118105354G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1096C>T	12.37:g.118105354G>A	ENSP00000339952:p.Arg366Cys						p.R337C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			5	1064	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		366					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1009C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.407751	0.83340	2.43E-4	1.2E-4	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.52754	0.65;0.65;0.65	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.52224	0.1721	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.60125	-0.7324	10	0.59425	D	0.04	.	16.9372	0.86206	0.0:0.0:1.0:0.0	.	366	Q6VAB6	KSR2_HUMAN	C	337;366;63;38	ENSP00000389715:R337C;ENSP00000339952:R366C;ENSP00000305466:R63C	ENSP00000305466:R63C	R	-	1	0	KSR2	116589737	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.532000	0.81985	2.356000	0.79943	0.462000	0.41574	CGC		0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	19	0	0	0	0	11	19				
GCN1L1	10985	broad.mit.edu	37	12	120600729	120600729	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:120600729C>T	ENST00000300648.6	-	20	2097	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	695					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGATCGATCTTCATCCTGG	0.557																																						uc001txo.2		NA																	0				ovary(4)	4						c.(2083-2085)AAG>AAA		GCN1 general control of amino-acid synthesis							94.0	92.0	93.0					12																	120600729		2007	4171	6178	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120600729C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2085G>A	12.37:g.120600729C>T							p.K695K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			20	2098	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		695					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2085G>A	CCDS41847.1																																																																																				0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			38	74	0	0	0	0	38	74				
KNTC1	9735	broad.mit.edu	37	12	123061462	123061462	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:123061462C>G	ENST00000333479.7	+	30	2784	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	869					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GATACATTCTCAAACAAGATG	0.348																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(2605-2607)CTC>CTG		Rough Deal homolog, centromere/kinetochore							118.0	109.0	111.0					12																	123061462		1855	4113	5968	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123061462C>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2607C>G	12.37:g.123061462C>G						KNTC1_uc010taf.1_Intron	p.L869L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	30	2770	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		869					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.2607C>G	CCDS45002.1																																																																																				0.348	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			14	21	0	0	0	0	14	21				
LMO7	4008	broad.mit.edu	37	13	76381901	76381901	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr13:76381901A>G	ENST00000321797.8	+	8	1504	c.783A>G	c.(781-783)gtA>gtG	p.V261V	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Silent_p.V261V|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Silent_p.V546V|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Silent_p.V546V			Q8WWI1	LMO7_HUMAN	LIM domain 7	546					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGATTCTGTAGAGCGAGATA	0.388																																						uc001vjv.2		NA																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(781-783)GTA>GTG		LIM domain only 7 isoform 2							88.0	86.0	86.0					13																	76381901		1568	3582	5150	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76381901A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.783A>G	13.37:g.76381901A>G						LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.V167V	p.V261V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	7	1543	+		Breast(118;0.0992)	546					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.783A>G		.	.	.	.	.	.	.	.	.	.	A	8.250	0.808727	0.16467	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.53	-3.67	0.04476	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46652	-0.9176	4	.	.	.	-11.3242	7.5356	0.27708	0.3777:0.4398:0.1825:0.0	.	.	.	.	G	170	.	.	R	+	1	2	LMO7	75279902	0.804000	0.28969	0.939000	0.37840	0.939000	0.58152	0.076000	0.14712	-0.753000	0.04721	0.533000	0.62120	AGA		0.388	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		30	59	0	0	0	0	30	59				
DOCK9	23348	broad.mit.edu	37	13	99498246	99498246	+	Splice_Site	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr13:99498246C>G	ENST00000376460.1	-	38	4142		c.e38-1		DOCK9_ENST00000339416.2_Splice_Site|DOCK9_ENST00000448493.2_Splice_Site	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTCCTGTTCTGTTACGGGA	0.483																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.e38-1		dedicator of cytokinesis 9 isoform a							124.0	125.0	125.0					13																	99498246		2075	4221	6296	SO:0001630	splice_region_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99498246C>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4062-1G>C	13.37:g.99498246C>G						DOCK9_uc001vnw.2_Splice_Site_p.R1354_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1355_splice|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_5'UTR|DOCK9_uc010tin.1_5'UTR|DOCK9_uc001vns.2_Intron|DOCK9_uc010tio.1_Missense_Mutation_p.R47T|DOCK9_uc010tip.1_Missense_Mutation_p.R65T|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Splice_Site_p.R333_splice	p.R1355_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			38	4120	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	37	c.4065_splice	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.976995|3.976995	0.74360|0.74360	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493|ENST00000450257	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76543	.|0.4002	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74589	.|-0.3615	.|4	.|.	.|.	.|.	.|.	19.76|19.76	0.96311|0.96311	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|51	.|.	.|.	.|E	-|-	.|1	.|0	DOCK9|DOCK9	98296247|98296247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.452000|7.452000	0.80683|0.80683	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	.|GAA		0.483	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Intron	7	16	0	0	0	0	7	16				
MYH7	4625	broad.mit.edu	37	14	23893298	23893298	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:23893298G>T	ENST00000355349.3	-	23	2902	c.2740C>A	c.(2740-2742)Cag>Aag	p.Q914K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	914					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCCAGCTGAATCTTGTTT	0.532																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(2740-2742)CAG>AAG		myosin, heavy chain 7, cardiac muscle, beta							169.0	138.0	149.0					14																	23893298		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893298G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2740C>A	14.37:g.23893298G>T	ENSP00000347507:p.Gln914Lys						p.Q914K	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2846	-	all_cancers(95;2.54e-05)		914			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2740C>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487364	0.63962	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90955	-2.76	5.55	5.55	0.83447	.	.	.	.	.	D	0.91845	0.7419	M	0.85041	2.73	0.58432	D	0.999991	B	0.23540	0.087	B	0.28991	0.097	D	0.89814	0.3984	9	0.72032	D	0.01	.	14.5263	0.67892	0.0:0.0:0.8537:0.1463	.	914	P12883	MYH7_HUMAN	K	914	ENSP00000347507:Q914K	ENSP00000347507:Q914K	Q	-	1	0	MYH7	22963138	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.495000	0.81514	2.894000	0.99253	0.655000	0.94253	CAG		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	66	1	0	2.45e-14	2.72e-14	28	66				
FSCB	84075	broad.mit.edu	37	14	44975541	44975541	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:44975541G>A	ENST00000340446.4	-	1	941	c.650C>T	c.(649-651)tCa>tTa	p.S217L	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	217						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAGTAAATGAAGTTCTGCT	0.393																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(649-651)TCA>TTA		fibrous sheath CABYR binding protein							115.0	117.0	117.0					14																	44975541		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975541G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.650C>T	14.37:g.44975541G>A	ENSP00000344579:p.Ser217Leu						p.S217L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	959	-			217					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.650C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101649	0.08731	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.26660	1.72	4.24	1.09	0.20402	.	.	.	.	.	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	P	0.39157	0.662	B	0.38655	0.278	T	0.16958	-1.0385	9	0.24483	T	0.36	-0.8246	5.0808	0.14655	0.1965:0.0:0.6369:0.1666	.	217	Q5H9T9	FSCB_HUMAN	L	217	ENSP00000344579:S217L	ENSP00000344579:S217L	S	-	2	0	FSCB	44045291	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.105000	0.15333	0.515000	0.28320	0.655000	0.94253	TCA		0.393	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		26	64	0	0	0	0	26	64				
SYNE3	161176	broad.mit.edu	37	14	95906295	95906295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:95906295C>G	ENST00000334258.5	-	11	2043	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	SYNE3_ENST00000557275.1_Missense_Mutation_p.E677Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.E434Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	677					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGGCCCGCCTCTCCCCGGTGT	0.637																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(2029-2031)GAG>CAG		nesprin-3							68.0	73.0	71.0					14																	95906295		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95906295C>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2029G>C	14.37:g.95906295C>G	ENSP00000334308:p.Glu677Gln					C14orf49_uc010avi.2_Missense_Mutation_p.E677Q	p.E677Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	11	2044	-		all_cancers(154;0.0937)	677			Spectrin 2.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2029G>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656083	0.29425	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	4.93	4.93	0.64822	.	0.356750	0.19974	N	0.101936	T	0.24122	0.0584	N	0.22421	0.69	0.23043	N	0.998385	B;B	0.29805	0.217;0.257	B;B	0.31495	0.081;0.131	T	0.13872	-1.0493	10	0.19590	T	0.45	-9.0369	10.8978	0.47034	0.0:0.9118:0.0:0.0882	.	677;677	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	Q	677;434;677	ENSP00000334308:E677Q;ENSP00000452154:E434Q;ENSP00000450562:E677Q	ENSP00000334308:E677Q	E	-	1	0	C14orf49	94976048	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	0.252000	0.18278	2.435000	0.82474	0.561000	0.74099	GAG		0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		75	66	0	0	0	0	75	66				
DYNC1H1	1778	broad.mit.edu	37	14	102504835	102504835	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:102504835G>C	ENST00000360184.4	+	58	11111	c.10947G>C	c.(10945-10947)ctG>ctC	p.L3649L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3649	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGGTGCTGAACCGTGAAG	0.542																																						uc001yks.2		NA																	0		p.L3649V(1)		ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10945-10947)CTG>CTC		cytoplasmic dynein 1 heavy chain 1							86.0	81.0	83.0					14																	102504835		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102504835G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10947G>C	14.37:g.102504835G>C							p.L3649L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			58	11111	+			3649			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.10947G>C	CCDS9966.1																																																																																				0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	34	0	0	0	0	7	34				
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2410-2412)GCG>GTG		ATPase, class V, type 10A							127.0	109.0	115.0					15																	25953381		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953381G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2411C>T	15.37:g.25953381G>A	ENSP00000349325:p.Ala804Val						p.A804V	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2517	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	804			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2411C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517745	0.85495	.	.	ENSG00000206190	ENST00000356865	D	0.86562	-2.14	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98372	1.0554	10	0.87932	D	0	-25.4666	17.9717	0.89115	0.0:0.0:1.0:0.0	.	804	O60312	AT10A_HUMAN	V	804	ENSP00000349325:A804V	ENSP00000349325:A804V	A	-	2	0	ATP10A	23504474	1.000000	0.71417	0.143000	0.22291	0.460000	0.32559	9.539000	0.98076	2.231000	0.72958	0.655000	0.94253	GCG		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	132	0	0	0	0	4	132				
EPB42	2038	broad.mit.edu	37	15	43508574	43508574	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43508574G>A	ENST00000441366.2	-	2	313	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	EPB42_ENST00000540029.1_Missense_Mutation_p.R30C|EPB42_ENST00000300215.3_Missense_Mutation_p.R60C	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	30					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACAAAGAGGCGCCGGGAGCTG	0.582																																						uc001zra.3		NA																	0				ovary(2)	2						c.(88-90)CGC>TGC		erythrocyte membrane protein band 4.2 isoform 2							114.0	106.0	109.0					15																	43508574		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43508574G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.88C>T	15.37:g.43508574G>A	ENSP00000396616:p.Arg30Cys					EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.R60C|EPB42_uc010udm.1_Missense_Mutation_p.R30C	p.R30C	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	2	388	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	30					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.88C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731409	0.69189	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.85702	-2.02;-2.02;-2.02	5.14	4.21	0.49690	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.769558	0.12688	N	0.447430	D	0.92648	0.7664	M	0.84511	2.7	0.26208	N	0.979349	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.96;0.967	D	0.84937	0.0863	10	0.87932	D	0	-1.9229	12.7277	0.57180	0.0:0.0:0.8345:0.1655	.	30;60;30	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	C	60;30;30;30	ENSP00000300215:R60C;ENSP00000444699:R30C;ENSP00000396616:R30C	ENSP00000300215:R60C	R	-	1	0	EPB42	41295866	0.011000	0.17503	0.378000	0.26068	0.796000	0.44982	1.051000	0.30417	1.367000	0.46095	0.655000	0.94253	CGC		0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		27	50	0	0	0	0	27	50				
CATSPER2	117155	broad.mit.edu	37	15	43924464	43924464	+	Silent	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43924464T>C	ENST00000321596.5	-	12	1693	c.1494A>G	c.(1492-1494)cgA>cgG	p.R498R	CATSPER2_ENST00000355438.2_3'UTR|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.R502R|CATSPER2_ENST00000354127.4_Silent_p.R496R|CATSPER2_ENST00000396879.1_Silent_p.R496R			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	498					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTCAAAATATCGGAAGAGTG	0.483																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(1492-1494)CGA>CGG		sperm-associated cation channel 2 isoform 2							78.0	75.0	76.0					15																	43924464		2199	4297	6496	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924464T>C	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1494A>G	15.37:g.43924464T>C						STRC_uc010udz.1_RNA|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.R496R|CATSPER2_uc001zsj.2_Silent_p.R496R	p.R498R	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	12	1709	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	498			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.1494A>G	CCDS10099.1																																																																																				0.483	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		21	53	0	0	0	0	21	53				
SHC4	399694	broad.mit.edu	37	15	49126974	49126974	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:49126974C>T	ENST00000332408.4	-	11	2157	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SHC4_ENST00000396535.3_Missense_Mutation_p.E334K|SHC4_ENST00000537958.1_Missense_Mutation_p.E291K	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	577	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACCTTGCCTTCAGGATCCACC	0.453																																						uc001zxb.1		NA																	0				ovary(3)|pancreas(2)	5						c.(1729-1731)GAA>AAA		rai-like protein							194.0	164.0	174.0					15																	49126974		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49126974C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1729G>A	15.37:g.49126974C>T	ENSP00000329668:p.Glu577Lys					SHC4_uc010uey.1_Missense_Mutation_p.E334K|SHC4_uc010uez.1_Missense_Mutation_p.E291K	p.E577K	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	11	2158	-		all_lung(180;0.00466)	577			SH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1729G>A	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079097	0.94050	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.64991	-0.13;-0.13;-0.13	4.92	4.01	0.46588	SH2 motif (4);	0.075630	0.56097	D	0.000038	T	0.74481	0.3722	L	0.56396	1.775	0.54753	D	0.99998	D;D	0.89917	1.0;0.981	D;D	0.79108	0.992;0.919	T	0.77403	-0.2601	10	0.87932	D	0	-7.442	13.3973	0.60861	0.0:0.9241:0.0:0.0759	.	334;577	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	K	577;334;291	ENSP00000329668:E577K;ENSP00000379786:E334K;ENSP00000443300:E291K	ENSP00000329668:E577K	E	-	1	0	SHC4	46914266	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	5.600000	0.67599	1.309000	0.44985	0.591000	0.81541	GAA		0.453	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		33	85	0	0	0	0	33	85				
LACTB	114294	broad.mit.edu	37	15	63419597	63419597	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:63419597C>T	ENST00000261893.4	+	4	733	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Missense_Mutation_p.R221C	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	221						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTGGAATTCGTCATTATGA	0.299																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.2		NA																	0					0						c.(661-663)CGT>TGT		lactamase, beta isoform a							65.0	74.0	71.0					15																	63419597		2202	4295	6497	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63419597C>T	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.661C>T	15.37:g.63419597C>T	ENSP00000261893:p.Arg221Cys					LACTB_uc002alv.2_Missense_Mutation_p.R221C	p.R221C	NM_032857	NP_116246	P83111	LACTB_HUMAN			4	700	+			221					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.661C>T	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292810	0.80914	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.45276	0.9;0.9	5.92	5.92	0.95590	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65026	-0.6268	10	0.56958	D	0.05	-12.061	14.1745	0.65532	0.1495:0.8505:0.0:0.0	.	221	P83111	LACTB_HUMAN	C	221	ENSP00000261893:R221C;ENSP00000392956:R221C	ENSP00000261893:R221C	R	+	1	0	LACTB	61206650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.815000	0.62634	2.814000	0.96858	0.585000	0.79938	CGT		0.299	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		34	85	0	0	0	0	34	85				
CSPG4	1464	broad.mit.edu	37	15	75982391	75982391	+	Missense_Mutation	SNP	G	G	A	rs200187536		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:75982391G>A	ENST00000308508.5	-	3	1107	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	339	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCCCAGGCGGTGTTCCTGG	0.642																																						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1015-1017)CGC>TGC		chondroitin sulfate proteoglycan 4 precursor							17.0	15.0	16.0					15																	75982391		2192	4283	6475	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982391G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1015C>T	15.37:g.75982391G>A	ENSP00000312506:p.Arg339Cys						p.R339C	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1108	-			339			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1015C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	15.76	2.927450	0.52759	.	.	ENSG00000173546	ENST00000308508	T	0.19938	2.11	5.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.181054	0.36815	N	0.002398	T	0.34803	0.0910	L	0.40543	1.245	0.43593	D	0.995946	D	0.89917	1.0	D	0.65987	0.94	T	0.02553	-1.1142	10	0.37606	T	0.19	.	15.6861	0.77411	0.0:0.0:0.8538:0.1462	.	339	Q6UVK1	CSPG4_HUMAN	C	339	ENSP00000312506:R339C	ENSP00000312506:R339C	R	-	1	0	CSPG4	73769446	0.996000	0.38824	1.000000	0.80357	0.667000	0.39255	2.026000	0.41069	2.463000	0.83235	0.555000	0.69702	CGC		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	37	0	0	0	0	5	37				
C15orf27	123591	broad.mit.edu	37	15	76426621	76426621	+	Missense_Mutation	SNP	C	C	G	rs114291110	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:76426621C>G	ENST00000388942.3	+	2	293	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	6					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTGGCTCCATCTTTCAACATG	0.463													C|||	13	0.00259585	0.0098	0.0	5008	,	,		16864	0.0		0.0	False		,,,				2504	0.0					uc002bbq.2		NA																	0					0						c.(16-18)TCT>TGT		hypothetical protein LOC123591		C	CYS/SER	13,3861		0,13,1924	99.0	98.0	98.0		17	5.3	0.5	15	dbSNP_132	98	0,8258		0,0,4129	yes	missense	C15orf27	NM_152335.2	112	0,13,6053	GG,GC,CC		0.0,0.3356,0.1072	possibly-damaging	6/532	76426621	13,12119	1937	4129	6066	SO:0001583	missense	123591					integral to membrane		g.chr15:76426621C>G	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.17C>G	15.37:g.76426621C>G	ENSP00000373594:p.Ser6Cys					C15orf27_uc010bkp.2_Translation_Start_Site	p.S6C	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			2	172	+			6					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.17C>G	CCDS10289.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	17.43	3.387797	0.61956	0.003356	0.0	ENSG00000169758	ENST00000388942	T	0.34072	1.38	5.35	5.35	0.76521	.	0.834603	0.10282	N	0.693435	T	0.18759	0.0450	N	0.22421	0.69	0.21579	N	0.999637	P	0.49447	0.924	B	0.43478	0.421	T	0.23833	-1.0177	10	0.87932	D	0	-1.1888	16.2043	0.82114	0.0:1.0:0.0:0.0	.	6	Q2M3C6	CO027_HUMAN	C	6	ENSP00000373594:S6C	ENSP00000373594:S6C	S	+	2	0	C15orf27	74213676	0.744000	0.28250	0.539000	0.28077	0.677000	0.39632	4.504000	0.60414	2.518000	0.84900	0.491000	0.48974	TCT		0.463	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		26	38	0	0	0	0	26	38				
IL16	3603	broad.mit.edu	37	15	81565513	81565513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:81565513G>T	ENST00000302987.4	+	5	758	c.758G>T	c.(757-759)gGa>gTa	p.G253V	IL16_ENST00000394660.2_Missense_Mutation_p.G253V			Q14005	IL16_HUMAN	interleukin 16	253	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTGCAGGGGGAGCAGCAGCA	0.522																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(757-759)GGA>GTA		interleukin 16 isoform 2							44.0	49.0	48.0					15																	81565513		1940	4141	6081	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81565513G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.758G>T	15.37:g.81565513G>T	ENSP00000302935:p.Gly253Val					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.G253V|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G295V|IL16_uc002bgg.2_Missense_Mutation_p.G253V	p.G253V	NM_172217	NP_757366	Q14005	IL16_HUMAN			6	1134	+			253			Interaction with GRIN2A.|PDZ 1.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.758G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347356	0.82022	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.54279	0.58;0.58	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.163586	0.29009	N	0.013429	D	0.84692	0.5528	H	0.99347	4.525	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.979	D	0.91416	0.5155	10	0.87932	D	0	.	18.3191	0.90231	0.0:0.0:1.0:0.0	.	253;253	Q14005;Q14005-2	IL16_HUMAN;.	V	253;253;85;253	ENSP00000378155:G253V;ENSP00000302935:G253V	ENSP00000302935:G253V	G	+	2	0	IL16	79352568	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.422000	0.90262	2.580000	0.87095	0.655000	0.94253	GGA		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	42	1	0	6.5e-13	7.16e-13	18	42				
IFT140	9742	broad.mit.edu	37	16	1573848	1573848	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:1573848G>A	ENST00000426508.2	-	25	3614	c.3251C>T	c.(3250-3252)gCg>gTg	p.A1084V	IFT140_ENST00000361339.5_Missense_Mutation_p.A278V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1084					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.A1084E(1)|p.A1084V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGCATGACCGCCCTGTCCAT	0.672																																						uc002cmb.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|endometrium(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(3250-3252)GCG>GTG		intraflagellar transport 140							75.0	57.0	63.0					16																	1573848		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1573848G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3251C>T	16.37:g.1573848G>A	ENSP00000406012:p.Ala1084Val					IFT140_uc002clz.2_Missense_Mutation_p.A697V	p.A1084V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			25	3613	-		Hepatocellular(780;0.219)	1084			TPR 6.		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3251C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511808	0.85389	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.54866	0.55;0.55	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	T	0.82665	-0.0345	10	0.72032	D	0.01	.	19.8599	0.96779	0.0:0.0:1.0:0.0	.	1084;771	Q96RY7;B4DR58	IF140_HUMAN;.	V	1084;278;1084	ENSP00000354895:A278V;ENSP00000406012:A1084V	ENSP00000354895:A278V	A	-	2	0	IFT140	1513849	1.000000	0.71417	0.960000	0.40013	0.257000	0.26127	9.787000	0.99055	2.710000	0.92621	0.655000	0.94253	GCG		0.672	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		13	38	0	0	0	0	13	38				
UBALD1	124402	broad.mit.edu	37	16	4664715	4664715	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:4664715C>G	ENST00000283474.7	-	1	212	c.84G>C	c.(82-84)gcG>gcC	p.A28A	UBALD1_ENST00000587649.1_Silent_p.A28A|UBALD1_ENST00000590965.1_Silent_p.A28A|UBALD1_ENST00000591401.1_Silent_p.A28A|UBALD1_ENST00000591897.1_Intron|UBALD1_ENST00000587615.1_Silent_p.A28A	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	28																	GCAGTTGCTTCGCCTGGTCGG	0.731																																						uc002cwx.2		NA																	0					0						c.(82-84)GCG>GCC		hypothetical protein LOC124402							24.0	24.0	24.0					16																	4664715		2189	4294	6483	SO:0001819	synonymous_variant	124402							g.chr16:4664715C>G	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member A"""	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.84G>C	16.37:g.4664715C>G						FAM100A_uc010btv.1_Silent_p.A28A|FAM100A_uc002cwy.2_Silent_p.A28A	p.A28A	NM_145253	NP_660296	Q8TB05	F100A_HUMAN			1	213	-			28					Q71MF6	Silent	SNP	ENST00000283474.7	37	c.84G>C	CCDS10518.1																																																																																				0.731	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251635.2	NM_145253		4	23	0	0	0	0	4	23				
CORO1A	11151	broad.mit.edu	37	16	30199820	30199820	+	Missense_Mutation	SNP	C	C	T	rs150186033	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:30199820C>T	ENST00000219150.5	+	10	1509	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R402W	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCAAAGAGCCGGGAGCTGAG	0.701																																						uc002dww.2		NA																	0					0						c.(1204-1206)CGG>TGG		coronin, actin binding protein, 1A		C	TRP/ARG,TRP/ARG	0,4390		0,0,2195	20.0	23.0	22.0		1204,1204	4.0	1.0	16	dbSNP_134	22	4,8594		0,4,4295	no	missense,missense	CORO1A	NM_001193333.2,NM_007074.3	101,101	0,4,6490	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	402/462,402/462	30199820	4,12984	2195	4299	6494	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30199820C>T	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1204C>T	16.37:g.30199820C>T	ENSP00000219150:p.Arg402Trp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402W|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296W|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	p.R402W	NM_007074	NP_009005	P31146	COR1A_HUMAN			10	1326	+			402					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.1204C>T	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	19.93	3.918904	0.73098	0.0	4.65E-4	ENSG00000102879	ENST00000219150	T	0.62232	0.04	4.96	3.99	0.46301	.	0.264920	0.32244	N	0.006366	T	0.70596	0.3242	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	P	0.56563	0.801	T	0.74118	-0.3768	10	0.87932	D	0	-20.6717	11.3741	0.49717	0.3403:0.6597:0.0:0.0	.	402	P31146	COR1A_HUMAN	W	402	ENSP00000219150:R402W	ENSP00000219150:R402W	R	+	1	2	CORO1A	30107321	0.971000	0.33674	1.000000	0.80357	0.970000	0.65996	0.811000	0.27198	1.252000	0.44001	0.561000	0.74099	CGG		0.701	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		20	29	0	0	0	0	20	29				
BBS2	583	broad.mit.edu	37	16	56539947	56539947	+	Splice_Site	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:56539947G>A	ENST00000245157.5	-	7	1139	c.719C>T	c.(718-720)tCg>tTg	p.S240L	BBS2_ENST00000568104.1_Splice_Site_p.S240L|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	240					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATGATTTTTCGACTGAAAAAG	0.343									Bardet-Biedl syndrome																													uc002ejd.2		NA																	0				ovary(1)	1						c.(718-720)TCG>TTG		Bardet-Biedl syndrome 2 protein							74.0	75.0	74.0					16																	56539947		2198	4300	6498	SO:0001630	splice_region_variant	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56539947G>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.718-1C>T	16.37:g.56539947G>A						BBS2_uc010ccg.2_Missense_Mutation_p.S240L	p.S240L	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			7	953	-			240					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.719C>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200510	0.94997	.	.	ENSG00000125124	ENST00000245157	T	0.60171	0.21	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82631	-0.0362	10	0.87932	D	0	-12.1513	19.8384	0.96670	0.0:0.0:1.0:0.0	.	240;240	A8K0N9;Q9BXC9	.;BBS2_HUMAN	L	240	ENSP00000245157:S240L	ENSP00000245157:S240L	S	-	2	0	BBS2	55097448	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.575000	0.98187	2.691000	0.91804	0.655000	0.94253	TCG		0.343	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	Missense_Mutation	10	24	0	0	0	0	10	24				
PKD1L2	114780	broad.mit.edu	37	16	81219116	81219116	+	RNA	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:81219116C>A	ENST00000525539.1	-	0	1977				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCTGAGTTCCCAGGGCGCA	0.632																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1978-1980)GAA>TAA		polycystin 1-like 2 isoform a							32.0	39.0	37.0					16																	81219116		2054	4211	6265			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81219116C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81219116C>A						PKD1L2_uc002fgj.2_Nonsense_Mutation_p.E660*	p.E660*	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			11	1978	-			660			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000525539.1	37	c.1978G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.645748|2.645748	0.47258|0.47258	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	.|.	.|.	.|.	4.38|4.38	-0.0466|-0.0466	0.13846|0.13846	.|.	0.716810|.	0.12798|.	N|.	0.438249|.	.|T	.|0.42337	.|0.1198	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51220	.|-0.8733	.|3	0.25106|.	T|.	0.35|.	-3.1753|-3.1753	8.9405|8.9405	0.35727|0.35727	0.0:0.6628:0.0:0.3372|0.0:0.6628:0.0:0.3372	.|.	.|.	.|.	.|.	X|V	660|187	.|.	ENSP00000337397:E660X|.	E|G	-|-	1|2	0|0	PKD1L2|PKD1L2	79776617|79776617	0.000000|0.000000	0.05858|0.05858	0.408000|0.408000	0.26446|0.26446	0.131000|0.131000	0.20780|0.20780	-0.499000|-0.499000	0.06413|0.06413	0.074000|0.074000	0.16767|0.16767	0.551000|0.551000	0.68910|0.68910	GAA|GGA		0.632	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			9	23	1	0	0.000274275	0.000289571	9	23				
ZZEF1	23140	broad.mit.edu	37	17	3979948	3979948	+	Missense_Mutation	SNP	C	C	T	rs143736611	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:3979948C>T	ENST00000381638.2	-	21	3341	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1073							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTCCTCCTTCGGGGCCACTA	0.552													C|||	3	0.000599042	0.0	0.0	5008	,	,		16763	0.0		0.003	False		,,,				2504	0.0					uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3217-3219)GAA>AAA		zinc finger, ZZ type with EF hand domain 1		C	LYS/GLU	10,4396	16.8+/-37.8	0,10,2193	39.0	37.0	37.0		3217	3.8	1.0	17	dbSNP_134	37	74,8526	44.0+/-102.2	0,74,4226	yes	missense	ZZEF1	NM_015113.3	56	0,84,6419	TT,TC,CC		0.8605,0.227,0.6459	benign	1073/2962	3979948	84,12922	2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3979948C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3217G>A	17.37:g.3979948C>T	ENSP00000371051:p.Glu1073Lys					ZZEF1_uc002fxk.1_Missense_Mutation_p.E1074K	p.E1073K	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			21	3281	-			1073					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3217G>A	CCDS11043.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	10.15	1.270025	0.23221	0.00227	0.008605	ENSG00000074755	ENST00000381638	T	0.20881	2.04	5.76	3.75	0.43078	.	0.509465	0.22983	N	0.053291	T	0.05456	0.0144	N	0.08118	0	0.27451	N	0.953443	B;B	0.33807	0.283;0.426	B;B	0.19666	0.024;0.026	T	0.16158	-1.0412	10	0.34782	T	0.22	-0.3536	7.0821	0.25237	0.0:0.6901:0.1506:0.1593	.	1074;1073	O43149-3;O43149	.;ZZEF1_HUMAN	K	1073	ENSP00000371051:E1073K	ENSP00000371051:E1073K	E	-	1	0	ZZEF1	3926697	0.260000	0.24053	0.959000	0.39883	0.037000	0.13140	3.013000	0.49582	1.451000	0.47736	0.655000	0.94253	GAA		0.552	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	26	0	0	0	0	10	26				
ZZEF1	23140	broad.mit.edu	37	17	3981229	3981229	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:3981229C>T	ENST00000381638.2	-	19	3061	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	979							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCGTGCTCTTCAGCTGCAGGT	0.512																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2935-2937)CTG>CTA		zinc finger, ZZ type with EF hand domain 1							77.0	71.0	73.0					17																	3981229		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3981229C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2937G>A	17.37:g.3981229C>T						ZZEF1_uc002fxk.1_Silent_p.L980L	p.L979L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			19	3001	-			979					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.2937G>A	CCDS11043.1																																																																																				0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		24	46	0	0	0	0	24	46				
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACCACCACACTATGTCGA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CX952222	TP53	X		c.(646-648)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							123.0	111.0	115.0					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M	p.V216M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	840	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	10	0	0	0	0	27	10				
MYH8	4626	broad.mit.edu	37	17	10322343	10322343	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:10322343A>G	ENST00000403437.2	-	4	309	c.215T>C	c.(214-216)cTa>cCa	p.L72P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	72					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTGACAGTTAGAGTCTGGTG	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(214-216)CTA>CCA		myosin, heavy chain 8, skeletal muscle,							104.0	95.0	98.0					17																	10322343		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322343A>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.215T>C	17.37:g.10322343A>G	ENSP00000384330:p.Leu72Pro					uc002gml.1_Intron	p.L72P	NM_002472	NP_002463	P13535	MYH8_HUMAN			4	310	-			72			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.215T>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090249	0.36855	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81247	-1.47	3.33	3.33	0.38152	Myosin, N-terminal, SH3-like (1);	0.000000	0.34067	U	0.004283	D	0.83083	0.5177	M	0.79693	2.465	0.58432	D	0.999999	B	0.31054	0.306	B	0.39876	0.312	D	0.84641	0.0695	10	0.62326	D	0.03	.	12.138	0.53982	1.0:0.0:0.0:0.0	.	72	P13535	MYH8_HUMAN	P	72	ENSP00000384330:L72P	ENSP00000252173:L72P	L	-	2	0	MYH8	10263068	0.972000	0.33761	0.996000	0.52242	0.257000	0.26127	6.752000	0.74898	1.524000	0.49035	0.377000	0.23210	CTA		0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		26	45	0	0	0	0	26	45				
FLII	2314	broad.mit.edu	37	17	18151261	18151261	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:18151261C>T	ENST00000327031.4	-	19	2502	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Silent_p.L748L|FLII_ENST00000379450.4_Silent_p.L673L|FLII_ENST00000545457.2_Silent_p.L704L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	759	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCTTGGCATCAGCTCCACCT	0.617																																						uc002gsr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2275-2277)CTG>CTA		flightless I homolog							117.0	107.0	111.0					17																	18151261		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18151261C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2277G>A	17.37:g.18151261C>T						FLII_uc002gsq.1_Silent_p.L630L|FLII_uc010cpy.1_Silent_p.L748L|FLII_uc010vxn.1_Silent_p.L728L|FLII_uc010vxo.1_Silent_p.L704L|FLII_uc002gss.1_Silent_p.L758L	p.L759L	NM_002018	NP_002009	Q13045	FLII_HUMAN			19	2328	-	all_neural(463;0.228)		759			Interaction with ACTL6A.|Gelsolin-like 3.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.2277G>A	CCDS11192.1																																																																																				0.617	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		32	73	0	0	0	0	32	73				
SOCS7	30837	broad.mit.edu	37	17	36552194	36552194	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36552194G>A	ENST00000577233.1	+	9	1719	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q	SOCS7_ENST00000331159.5_Silent_p.Q539Q	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	573					fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TTTCCAAACAGAAGCAAGAGG	0.512																																						uc002hqa.2		NA																	0				skin(1)	1						c.(1717-1719)CAG>CAA		suppressor of cytokine signaling 7							61.0	58.0	59.0					17																	36552194		2203	4300	6503	SO:0001819	synonymous_variant	30837				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36552194G>A	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1719G>A	17.37:g.36552194G>A						SOCS7_uc010cvl.2_Silent_p.Q539Q|SOCS7_uc002hqb.2_Intron	p.Q573Q	NM_014598	NP_055413	O14512	SOCS7_HUMAN			9	1842	+	Breast(7;3.47e-17)		573					A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	c.1719G>A	CCDS32637.1																																																																																				0.512	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		18	31	0	0	0	0	18	31				
MLLT6	4302	broad.mit.edu	37	17	36872785	36872785	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36872785C>T	ENST00000325718.7	+	10	1293	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	401					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTGGTCTTCTCTGGCTTTGGG	0.657			T	MLL	AL																																	uc002hqi.3		NA		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(1201-1203)TCT>TTT		myeloid/lymphoid or mixed-lineage leukemia							36.0	42.0	39.0					17																	36872785		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872785C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1202C>T	17.37:g.36872785C>T	ENSP00000316426:p.Ser401Phe					MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	p.S401F	NM_005937	NP_005928	P55198	AF17_HUMAN			10	1215	+	Breast(7;4.43e-21)		401					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1202C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552002	0.86127	.	.	ENSG00000108292	ENST00000325718	T	0.16324	2.35	5.33	5.33	0.75918	.	0.777439	0.12109	N	0.498680	T	0.37433	0.1003	L	0.43152	1.355	0.58432	D	0.999995	D	0.65815	0.995	D	0.75484	0.986	T	0.03863	-1.0997	10	0.87932	D	0	.	16.5152	0.84297	0.0:1.0:0.0:0.0	.	401	P55198	AF17_HUMAN	F	401	ENSP00000316426:S401F	ENSP00000316426:S401F	S	+	2	0	MLLT6	34126311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.027000	0.76463	2.503000	0.84419	0.561000	0.74099	TCT		0.657	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		30	42	0	0	0	0	30	42				
PGAP3	93210	broad.mit.edu	37	17	37840929	37840929	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:37840929C>T	ENST00000300658.4	-	3	445	c.353G>A	c.(352-354)aGc>aAc	p.S118N	PGAP3_ENST00000579146.1_Missense_Mutation_p.S118N|PGAP3_ENST00000378011.4_Intron|PGAP3_ENST00000429199.2_Missense_Mutation_p.S118N	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	118					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CATCACCAGGCTGGCCAGGCC	0.602																																						uc002hsj.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(352-354)AGC>AAC		per1-like domain containing 1 precursor							49.0	42.0	44.0					17																	37840929		2203	4300	6503	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37840929C>T	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.353G>A	17.37:g.37840929C>T	ENSP00000300658:p.Ser118Asn					PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Missense_Mutation_p.S118N|PGAP3_uc002hsk.2_Intron|PGAP3_uc010cvz.2_Missense_Mutation_p.S118N	p.S118N	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			3	396	-			118			Helical; (Potential).		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.353G>A	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	C	4.875	0.162617	0.09287	.	.	ENSG00000161395	ENST00000300658;ENST00000309862;ENST00000429199	.	.	.	4.5	2.51	0.30379	.	0.142979	0.64402	N	0.000005	T	0.26882	0.0658	N	0.05383	-0.06	0.37272	D	0.907431	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.10268	-1.0637	9	0.22706	T	0.39	-22.1127	7.5729	0.27918	0.0:0.7346:0.0:0.2654	.	118;62;118	B4DGK7;B4DVJ3;Q96FM1	.;.;PGAP3_HUMAN	N	118;62;118	.	ENSP00000300658:S118N	S	-	2	0	PGAP3	35094455	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.541000	0.36126	1.231000	0.43661	0.650000	0.86243	AGC		0.602	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		18	26	0	0	0	0	18	26				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						uc002hvz.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(481-483)CTG>GTG		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	520	-		Breast(137;0.000496)	161			27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	22	0	0	0	0	4	22				
NKIRAS2	28511	broad.mit.edu	37	17	40174467	40174467	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:40174467A>G	ENST00000307641.5	+	3	766	c.145A>G	c.(145-147)Aca>Gca	p.T49A	NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T47A|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T49A	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	49	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CTCCATTGAGACAGACCGGGG	0.557																																						uc002hyq.2		NA																	0				ovary(1)	1						c.(145-147)ACA>GCA		NFKB inhibitor interacting Ras-like 2 isoform a							51.0	49.0	50.0					17																	40174467		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174467A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.145A>G	17.37:g.40174467A>G	ENSP00000303580:p.Thr49Ala					NKIRAS2_uc010wgd.1_Missense_Mutation_p.T49A|NKIRAS2_uc002hyr.2_Missense_Mutation_p.T49A|NKIRAS2_uc002hys.2_Missense_Mutation_p.T49A|NKIRAS2_uc010wge.1_Missense_Mutation_p.T49A|NKIRAS2_uc002hyt.2_Missense_Mutation_p.T49A	p.T49A	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			3	210	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	49			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.145A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	32	5.185839	0.94885	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T;T	0.79749	-0.99;-0.99;-1.3;-0.99;-0.99;-0.99;-1.3	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.986	D;D;D	0.87578	0.983;0.998;0.93	D	0.89777	0.3958	10	0.62326	D	0.03	-16.6957	15.9613	0.79933	1.0:0.0:0.0:0.0	.	49;49;49	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	A	49;47;49;49;49;49;49;49	ENSP00000303580:T49A;ENSP00000377462:T47A;ENSP00000401976:T49A;ENSP00000377458:T49A;ENSP00000377459:T49A;ENSP00000377463:T49A;ENSP00000312773:T49A	ENSP00000303580:T49A	T	+	1	0	NKIRAS2	37427993	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.339000	0.96797	2.240000	0.73641	0.477000	0.44152	ACA		0.557	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		27	42	0	0	0	0	27	42				
GPATCH8	23131	broad.mit.edu	37	17	42483420	42483420	+	Splice_Site	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:42483420C>G	ENST00000591680.1	-	7	523		c.e7-1		GPATCH8_ENST00000434000.1_Splice_Site	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTTTAATCTCTGGGTTAAAA	0.433																																						uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.e7-1		G patch domain containing 8							55.0	58.0	57.0					17																	42483420		2203	4300	6503	SO:0001630	splice_region_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42483420C>G	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.493-1G>C	17.37:g.42483420C>G						GPATCH8_uc002igv.1_Splice_Site_p.R87_splice|GPATCH8_uc010wiz.1_Splice_Site_p.R87_splice	p.R165_splice	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	557	-		Prostate(33;0.0181)						B9EGP9|O60300|Q8TB99	Splice_Site	SNP	ENST00000591680.1	37	c.493_splice	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128318	0.77549	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.597	0.95544	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPATCH8	39838946	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	.		0.433	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	Intron	18	29	0	0	0	0	18	29				
AKAP1	8165	broad.mit.edu	37	17	55182885	55182885	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:55182885C>A	ENST00000337714.3	+	2	293	c.60C>A	c.(58-60)ctC>ctA	p.L20L	AKAP1_ENST00000539273.1_Silent_p.L20L|AKAP1_ENST00000314126.3_Silent_p.L20L|AKAP1_ENST00000572557.1_Silent_p.L20L|AKAP1_ENST00000571629.1_Silent_p.L20L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	20					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L20L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGCGCTCCTCGGCTGGTGGT	0.577																																						uc002iux.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(58-60)CTC>CTA		A-kinase anchor protein 1 precursor							61.0	58.0	59.0					17																	55182885		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55182885C>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.60C>A	17.37:g.55182885C>A						AKAP1_uc010wnl.1_Silent_p.L20L|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.L20L	p.L20L	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	291	+	Breast(9;5.46e-08)		20					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.60C>A	CCDS11594.1																																																																																				0.577	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			22	32	1	0	1.87e-06	2.01e-06	22	32				
MED13	9969	broad.mit.edu	37	17	60042437	60042437	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:60042437G>C	ENST00000397786.2	-	20	4850	c.4774C>G	c.(4774-4776)Cta>Gta	p.L1592V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1592					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTGTCTGTAGAGCTGATGTC	0.453																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(4774-4776)CTA>GTA		mediator complex subunit 13							90.0	90.0	90.0					17																	60042437		1987	4174	6161	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60042437G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4774C>G	17.37:g.60042437G>C	ENSP00000380888:p.Leu1592Val						p.L1592V	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			20	4851	-			1592					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.4774C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353240	0.24512	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73897	-0.79	5.95	4.98	0.66077	.	0.352939	0.31031	N	0.008382	T	0.68063	0.2960	L	0.40543	1.245	0.35787	D	0.822077	B	0.23316	0.083	B	0.24006	0.05	T	0.68857	-0.5298	10	0.30078	T	0.28	-26.3389	17.2393	0.87008	0.0:0.1258:0.8742:0.0	.	1592	Q9UHV7	MED13_HUMAN	V	1592;1591	ENSP00000380888:L1592V	ENSP00000262436:L1591V	L	-	1	2	MED13	57397219	1.000000	0.71417	0.996000	0.52242	0.417000	0.31264	1.989000	0.40707	1.518000	0.48934	0.650000	0.86243	CTA		0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		12	41	0	0	0	0	12	41				
DNAI2	64446	broad.mit.edu	37	17	72308173	72308173	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:72308173T>A	ENST00000311014.6	+	12	1593	c.1526T>A	c.(1525-1527)aTc>aAc	p.I509N	RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.I366N|DNAI2_ENST00000582036.1_Missense_Mutation_p.I497N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I509N|DNAI2_ENST00000579490.1_Missense_Mutation_p.I566N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	509					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGAGAAGATCCTGGAGGCC	0.652									Kartagener syndrome																													uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1525-1527)ATC>AAC		dynein, axonemal, intermediate polypeptide 2							47.0	44.0	45.0					17																	72308173		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308173T>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1526T>A	17.37:g.72308173T>A	ENSP00000308312:p.Ile509Asn					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	p.I509N	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			12	1625	+			509					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1526T>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575208	0.86542	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.38077	1.16;1.16;1.16	4.77	4.77	0.60923	.	0.097445	0.64402	D	0.000001	T	0.31606	0.0802	L	0.48986	1.54	0.80722	D	1	B	0.12630	0.006	B	0.20767	0.031	T	0.11108	-1.0601	10	0.09084	T	0.74	-21.3049	14.373	0.66854	0.0:0.0:0.0:1.0	.	509	Q9GZS0	DNAI2_HUMAN	N	509;366;509	ENSP00000308312:I509N;ENSP00000302929:I366N;ENSP00000400252:I509N	ENSP00000302929:I366N	I	+	2	0	DNAI2	69819768	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.796000	0.85898	1.809000	0.52856	0.397000	0.26171	ATC		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		14	21	0	0	0	0	14	21				
SMAD4	4089	broad.mit.edu	37	18	48584552	48584552	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr18:48584552C>G	ENST00000342988.3	+	6	1263	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	242					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.S242*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGATAGCATCAGGGCCTCAG	0.433																																						uc010xdp.1		NA																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(35)|p.?(2)	pancreas(26)|stomach(3)|lung(3)|breast(3)|large_intestine(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(724-726)TCA>TGA		mothers against decapentaplegic homolog 4							87.0	81.0	83.0					18																	48584552		2203	4300	6503	SO:0001587	stop_gained	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584552C>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.725C>G	18.37:g.48584552C>G	ENSP00000341551:p.Ser242*					SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Nonsense_Mutation_p.S87*	p.S242*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	6	1263	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	242					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.725C>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	39	7.838980	0.98519	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.76	5.76	0.90799	.	0.245141	0.35262	N	0.003326	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.0946	0.93244	0.0:1.0:0.0:0.0	.	.	.	.	X	242	.	ENSP00000341551:S242X	S	+	2	0	SMAD4	46838550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.740000	0.68629	2.882000	0.98803	0.655000	0.94253	TCA		0.433	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		21	14	0	0	0	0	21	14				
APBA3	9546	broad.mit.edu	37	19	3759797	3759797	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:3759797C>G	ENST00000316757.3	-	2	666	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	156					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCACCCATTCT	0.642																																						uc002lyp.1		NA																	0					0						c.(466-468)GAG>CAG		amyloid beta (A4) precursor protein-binding,							22.0	26.0	25.0					19																	3759797		2201	4294	6495	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3759797C>G	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.466G>C	19.37:g.3759797C>G	ENSP00000315136:p.Glu156Gln					MRPL54_uc002lyq.3_5'Flank	p.E156Q	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	643	-		Hepatocellular(1079;0.137)	156					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.466G>C	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909842	0.17833	.	.	ENSG00000011132	ENST00000316757	T	0.07688	3.17	4.39	3.35	0.38373	.	1.027280	0.07770	N	0.951508	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	B	0.41135	0.348	T	0.35101	-0.9802	10	0.23891	T	0.37	.	9.1769	0.37118	0.0:0.8953:0.0:0.1047	.	156	O96018	APBA3_HUMAN	Q	156	ENSP00000315136:E156Q	ENSP00000315136:E156Q	E	-	1	0	APBA3	3710797	0.004000	0.15560	0.199000	0.23439	0.045000	0.14185	1.379000	0.34340	0.842000	0.35045	0.561000	0.74099	GAG		0.642	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			10	33	0	0	0	0	10	33				
ZNF254	9534	broad.mit.edu	37	19	24309211	24309211	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:24309211G>A	ENST00000357002.4	+	4	524	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ZNF254_ENST00000342944.6_Missense_Mutation_p.E52K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	137					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTGAACAAAGAAGGTTATAA	0.299																																						uc002nru.2		NA																	0					0						c.(409-411)GAA>AAA		zinc finger protein 254							68.0	70.0	70.0					19																	24309211		2203	4299	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309211G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.409G>A	19.37:g.24309211G>A	ENSP00000349494:p.Glu137Lys					ZNF254_uc010xrk.1_Missense_Mutation_p.E52K	p.E137K	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	543	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	137					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.409G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322697	0.10900	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.07688	3.17;3.32	1.3	-2.6	0.06190	.	.	.	.	.	T	0.02929	0.0087	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45366	-0.9266	9	0.06365	T	0.9	.	2.7012	0.05149	0.2991:0.0:0.4578:0.2431	.	137	O75437	ZN254_HUMAN	K	52;137;137	ENSP00000445527:E52K;ENSP00000349494:E137K	ENSP00000445527:E52K	E	+	1	0	ZNF254	24101051	0.000000	0.05858	0.001000	0.08648	0.328000	0.28507	-1.607000	0.02070	-0.377000	0.07930	0.313000	0.20887	GAA		0.299	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		23	34	0	0	0	0	23	34				
MAG	4099	broad.mit.edu	37	19	35790470	35790470	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:35790470C>T	ENST00000392213.3	+	5	588	c.429C>T	c.(427-429)atC>atT	p.I143I	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000361922.4_Silent_p.I143I|MAG_ENST00000537831.2_Silent_p.I118I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	143	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCCAACATCGTGGTGCCCC	0.672																																						uc002nyy.1		NA																	0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(427-429)ATC>ATT		myelin associated glycoprotein isoform a							27.0	27.0	27.0					19																	35790470		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35790470C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.429C>T	19.37:g.35790470C>T						MAG_uc002nyx.1_Silent_p.I143I|MAG_uc010eds.1_Silent_p.I118I|MAG_uc002nyz.1_Silent_p.I143I	p.I143I	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	578	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	143			Ig-like C2-type 1.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.429C>T	CCDS12455.1																																																																																				0.672	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		3	19	0	0	0	0	3	19				
HSD17B14	51171	broad.mit.edu	37	19	49316972	49316972	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:49316972T>C	ENST00000263278.4	-	7	756	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000597011.1_5'Flank|HSD17B14_ENST00000599157.1_Missense_Mutation_p.M140V|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000598162.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	164					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCTTTGGTCATGGCTGTTACT	0.612																																						uc002pkv.1		NA																	0					0						c.(490-492)ATG>GTG		dehydrogenase/reductase (SDR family) member 10							90.0	91.0	91.0					19																	49316972		2203	4300	6503	SO:0001583	missense	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49316972T>C	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.490A>G	19.37:g.49316972T>C	ENSP00000263278:p.Met164Val					BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Missense_Mutation_p.M164V	p.M164V	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	7	756	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	164					Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	c.490A>G	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.077326	0.55753	.	.	ENSG00000087076	ENST00000263278	D	0.87334	-2.24	5.16	0.0555	0.14315	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.043446	0.85682	D	0.000000	T	0.79890	0.4524	L	0.39085	1.19	0.42748	D	0.993761	P	0.40332	0.713	B	0.43251	0.413	T	0.72597	-0.4245	10	0.51188	T	0.08	.	6.084	0.19956	0.2512:0.0:0.2587:0.49	.	164	Q9BPX1	DHB14_HUMAN	V	164	ENSP00000263278:M164V	ENSP00000263278:M164V	M	-	1	0	HSD17B14	54008784	1.000000	0.71417	0.977000	0.42913	0.898000	0.52572	1.644000	0.37228	0.017000	0.15025	0.460000	0.39030	ATG		0.612	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		41	58	0	0	0	0	41	58				
CPT1C	126129	broad.mit.edu	37	19	50204760	50204760	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50204760G>C	ENST00000392518.4	+	7	934	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CPT1C_ENST00000323446.5_Missense_Mutation_p.E188Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.E188Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.E188Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.E188Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	188					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTAGTACCTGGAGTCGGTCCG	0.706																																						uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(562-564)GAG>CAG		carnitine palmitoyltransferase 1C isoform 2							34.0	31.0	32.0					19																	50204760		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50204760G>C	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.562G>C	19.37:g.50204760G>C	ENSP00000376303:p.Glu188Gln					CPT1C_uc002ppl.3_Missense_Mutation_p.E154Q|CPT1C_uc002ppi.2_Missense_Mutation_p.E105Q|CPT1C_uc002ppk.2_Missense_Mutation_p.E188Q|CPT1C_uc010eng.2_Missense_Mutation_p.E188Q|CPT1C_uc010enh.2_Missense_Mutation_p.E188Q|CPT1C_uc010ybc.1_Missense_Mutation_p.E26Q	p.E188Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	6	767	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	188			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.562G>C	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285611	0.40394	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.3	4.3	0.51218	.	0.376412	0.19849	N	0.104671	D	0.92008	0.7468	L	0.45698	1.435	0.48185	D	0.999604	B;D;B;B	0.89917	0.42;1.0;0.098;0.011	B;D;B;B	0.77004	0.221;0.989;0.06;0.142	D	0.91217	0.5003	10	0.40728	T	0.16	-15.9094	16.0477	0.80731	0.0:0.0:1.0:0.0	.	26;188;188;188	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	Q	188;188;188;188;26	ENSP00000376303:E188Q;ENSP00000346138:E188Q;ENSP00000384465:E188Q;ENSP00000319343:E188Q	ENSP00000295404:E26Q	E	+	1	0	CPT1C	54896572	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	8.682000	0.91232	2.411000	0.81874	0.542000	0.68232	GAG		0.706	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		14	32	0	0	0	0	14	32				
PTOV1	53635	broad.mit.edu	37	19	50361359	50361359	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50361359G>A	ENST00000601675.1	+	9	1028	c.924G>A	c.(922-924)ccG>ccA	p.P308P	PTOV1_ENST00000601638.1_Silent_p.P276P|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000221557.9_Silent_p.P276P|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000391842.1_Silent_p.P308P|PTOV1_ENST00000599732.1_Silent_p.P308P|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000600603.1_Silent_p.P276P|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	308	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGCTCATCCCGCAGCAGCTGC	0.687																																						uc002pqf.1		NA																	0					0						c.(922-924)CCG>CCA		prostate tumor overexpressed 1							30.0	34.0	33.0					19																	50361359		2203	4300	6503	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50361359G>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.924G>A	19.37:g.50361359G>A						PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.P276P|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.P308P	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	9	1094	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	308			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.924G>A	CCDS12782.1																																																																																				0.687	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		12	30	0	0	0	0	12	30				
PNKP	11284	broad.mit.edu	37	19	50368399	50368399	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600573.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582								Other BER factors																														uc002pqh.2		NA																	0				ovary(1)|kidney(1)	2						c.(481-483)GTG>GTA	Other_BER_factors	polynucleotide kinase 3' phosphatase							25.0	25.0	25.0					19																	50368399		2203	4300	6503	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50368399C>T	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.483G>A	19.37:g.50368399C>T						PNKP_uc002pqg.2_5'UTR|PNKP_uc002pqi.2_Silent_p.V122V|PNKP_uc002pqj.2_Silent_p.V161V|PNKP_uc010enm.2_Silent_p.V161V|PNKP_uc002pqk.2_Silent_p.V161V	p.V161V	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	3	535	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	161					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.483G>A	CCDS12783.1																																																																																				0.582	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		5	21	0	0	0	0	5	21				
ZFP28	140612	broad.mit.edu	37	19	57061542	57061542	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57061542G>T	ENST00000301318.3	+	6	865	c.794G>T	c.(793-795)gGa>gTa	p.G265V	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.G265V	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	265	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTGACCTGGGATCAGCAGGT	0.478																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2		NA																	0				ovary(1)	1						c.(793-795)GGA>GTA		zinc finger protein 28							52.0	47.0	48.0					19																	57061542		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57061542G>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.794G>T	19.37:g.57061542G>T	ENSP00000301318:p.Gly265Val					ZFP28_uc002qni.2_Missense_Mutation_p.G265V|uc002qnk.1_Intron	p.G265V	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	6	865	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	265			KRAB 2.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.794G>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574217	0.13623	.	.	ENSG00000196867	ENST00000301318	T	0.01304	5.03	4.37	0.976	0.19727	Krueppel-associated box (4);	0.169135	0.28403	N	0.015479	T	0.00936	0.0031	N	0.00583	-1.355	0.21445	N	0.99968	D;D	0.71674	0.998;0.99	D;D	0.68483	0.958;0.921	T	0.54227	-0.8325	10	0.13470	T	0.59	.	5.0782	0.14642	0.0986:0.0:0.532:0.3694	.	265;265	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	V	265	ENSP00000301318:G265V	ENSP00000301318:G265V	G	+	2	0	ZFP28	61753354	0.004000	0.15560	0.007000	0.13788	0.007000	0.05969	0.395000	0.20850	0.325000	0.23359	0.591000	0.81541	GGA		0.478	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	9	1	0	3.6e-05	3.84e-05	5	9				
ZNF835	90485	broad.mit.edu	37	19	57174961	57174961	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57174961C>G	ENST00000537055.2	-	2	1837	c.1606G>C	c.(1606-1608)Gaa>Caa	p.E536Q		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCTTAATCTTCTGCTGGTCCA	0.577																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1672-1674)GAA>CAA		zinc finger protein 835							47.0	48.0	48.0					19																	57174961		2021	4195	6216	SO:0001583	missense	90485							g.chr19:57174961C>G	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1606G>C	19.37:g.57174961C>G	ENSP00000444747:p.Glu536Gln					ZNF835_uc010ygn.1_Missense_Mutation_p.E536Q	p.E558Q	NM_001005850	NP_001005850					2	1672	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1672G>C	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	8.693	0.907902	0.17833	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07908	3.15	1.93	0.869	0.19096	.	.	.	.	.	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.38824	-0.9643	9	0.62326	D	0.03	.	4.3971	0.11369	0.0:0.7968:0.0:0.2032	.	558	Q9Y2P0	ZN835_HUMAN	Q	558;536	ENSP00000444747:E536Q	ENSP00000341756:E558Q	E	-	1	0	ZNF835	61866773	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.093000	0.15086	0.354000	0.24105	0.462000	0.41574	GAA		0.577	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		27	31	0	0	0	0	27	31				
ZIK1	284307	broad.mit.edu	37	19	58102361	58102361	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58102361C>A	ENST00000597850.1	+	4	1397	c.1182C>A	c.(1180-1182)ctC>ctA	p.L394L	ZIK1_ENST00000536878.2_Silent_p.L381L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.L339L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCTACCCTCATTAAACACC	0.438																																						uc002qpg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1180-1182)CTC>CTA		zinc finger protein interacting with K protein							63.0	61.0	62.0					19																	58102361		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58102361C>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.1182C>A	19.37:g.58102361C>A						ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.L339L|ZIK1_uc002qpi.2_Silent_p.L381L|ZIK1_uc002qpj.2_Silent_p.L291L	p.L394L	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1279	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	394			C2H2-type 6.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.1182C>A	CCDS33135.1																																																																																				0.438	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		26	43	1	0	1.85e-09	2.02e-09	26	43				
A1BG	1	broad.mit.edu	37	19	58863922	58863922	+	Splice_Site	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58863922C>T	ENST00000263100.3	-	4	402		c.e4-1		A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein							blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCAAGGACTCTGTGGGTGGG	0.602																																						uc002qsd.3		NA																	0					0						c.e4-1		alpha 1B-glycoprotein precursor							74.0	79.0	77.0					19																	58863922		2198	4293	6491	SO:0001630	splice_region_variant	1					extracellular region		g.chr19:58863922C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.341-1G>A	19.37:g.58863922C>T						NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_Splice_Site|NCRNA00181_uc002qsg.2_RNA	p.K114_splice	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	403	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)						A8K052|Q68CK0|Q8IYJ6|Q96P39	Splice_Site	SNP	ENST00000263100.3	37	c.341_splice	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652984	0.47362	.	.	ENSG00000121410	ENST00000263100	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5741	0.45217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A1BG	63555734	0.172000	0.23043	0.700000	0.30305	0.366000	0.29705	1.220000	0.32491	2.203000	0.70933	0.563000	0.77884	.		0.602	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786	Intron	16	115	0	0	0	0	16	115				
PRKD3	23683	broad.mit.edu	37	2	37501611	37501611	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:37501611G>A	ENST00000379066.1	-	11	2366	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I	PRKD3_ENST00000234179.2_Missense_Mutation_p.T535I			O94806	KPCD3_HUMAN	protein kinase D3	535					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGCTTGAGGAGTAACAGGCAT	0.453																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1603-1605)ACT>ATT		protein kinase D3							139.0	127.0	131.0					2																	37501611		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37501611G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1604C>T	2.37:g.37501611G>A	ENSP00000368356:p.Thr535Ile					PRKD3_uc002rqe.1_Missense_Mutation_p.T135I|PRKD3_uc002rqf.1_Missense_Mutation_p.T535I	p.T535I	NM_005813	NP_005804	O94806	KPCD3_HUMAN			10	2159	-		all_hematologic(82;0.21)	535					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1604C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622436	0.28889	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.65916	-0.18;-0.18;1.86	5.57	5.57	0.84162	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.28694	0.88	0.80722	D	1	B;B	0.19935	0.04;0.008	B;B	0.24155	0.051;0.013	T	0.41822	-0.9487	10	0.17369	T	0.5	-16.2195	14.3962	0.67013	0.0:0.0:0.8523:0.1477	.	535;535	O94806-2;O94806	.;KPCD3_HUMAN	I	535;535;46	ENSP00000368356:T535I;ENSP00000234179:T535I;ENSP00000398743:T46I	ENSP00000234179:T535I	T	-	2	0	PRKD3	37355115	1.000000	0.71417	0.822000	0.32727	0.991000	0.79684	5.599000	0.67592	2.609000	0.88269	0.591000	0.81541	ACT		0.453	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		18	45	0	0	0	0	18	45				
PLEK	5341	broad.mit.edu	37	2	68620335	68620335	+	Missense_Mutation	SNP	G	G	C	rs146499837		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:68620335G>C	ENST00000234313.7	+	7	983	c.804G>C	c.(802-804)ttG>ttC	p.L268F		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	268	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGTTCATCTTGAGAGAAGACC	0.423																																						uc002sen.3		NA																	0				ovary(1)	1						c.(802-804)TTG>TTC		pleckstrin		G	PHE/LEU	0,4406		0,0,2203	183.0	166.0	172.0		804	5.8	1.0	2	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEK	NM_002664.2	22	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	268/351	68620335	1,13005	2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68620335G>C	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.804G>C	2.37:g.68620335G>C	ENSP00000234313:p.Leu268Phe					PLEK_uc010fde.2_Missense_Mutation_p.L268F	p.L268F	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	7	966	+		Ovarian(717;0.0129)	268			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.804G>C	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618333	0.87359	0.0	1.16E-4	ENSG00000115956	ENST00000234313	D	0.91792	-2.91	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97294	0.9115	H	0.96015	3.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.97998	1.0358	10	0.87932	D	0	.	14.1914	0.65641	0.0733:0.0:0.9267:0.0	.	286;268	Q59GZ2;P08567	.;PLEK_HUMAN	F	268	ENSP00000234313:L268F	ENSP00000234313:L268F	L	+	3	2	PLEK	68473839	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.724000	0.47285	2.744000	0.94065	0.561000	0.74099	TTG		0.423	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		45	130	0	0	0	0	45	130				
BMP10	27302	broad.mit.edu	37	2	69093522	69093522	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:69093522C>T	ENST00000295379.1	-	2	674	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	172					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCCCTTTGCTCTCCAGCACTT	0.448																																						uc002sez.1		NA																	0				ovary(2)	2						c.(514-516)GAG>GAA		bone morphogenetic protein 10 preproprotein							109.0	88.0	95.0					2																	69093522		2203	4300	6503	SO:0001819	synonymous_variant	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093522C>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.516G>A	2.37:g.69093522C>T							p.E172E	NM_014482	NP_055297	O95393	BMP10_HUMAN			2	675	-			172					Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	c.516G>A	CCDS1890.1																																																																																				0.448	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		25	61	0	0	0	0	25	61				
NAT8	9027	broad.mit.edu	37	2	73868736	73868737	+	Missense_Mutation	DNP	CG	CG	GA	rs190944121	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:73868736_73868737CG>GA	ENST00000272425.3	-	2	168_169	c.19_20CG>TC	c.(19-21)CGc>TCc	p.R7S		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CTGGTATTTGCGGATGTGACAA	0.589																																						uc002sji.1		NA																	0				ovary(1)	1						c.(19-21)CGC>TCC		N-acetyltransferase 8																																				SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868736_73868737CG>GA	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.19_20delinsGA	2.37:g.73868736_73868737delinsGA	ENSP00000272425:p.Arg7Ser						p.R7S	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN			2	186_187	-			7						Missense_Mutation	DNP	ENST00000272425.3	37	c.19_20CG>TC	CCDS1926.1																																																																																				0.589	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		33	84	0	0	0	0	33	84				
M1AP	130951	broad.mit.edu	37	2	74785901	74785901	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:74785901G>A	ENST00000290536.5	-	11	1651	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	M1AP_ENST00000536235.1_Missense_Mutation_p.S508F|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.S161F|M1AP_ENST00000409585.1_Missense_Mutation_p.S508F	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	512					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ATCTGAGGAAGATTTGCTGGC	0.587																																						uc002smy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1534-1536)TCT>TTT		hypothetical protein LOC130951							115.0	110.0	112.0					2																	74785901		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74785901G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1535C>T	2.37:g.74785901G>A	ENSP00000290536:p.Ser512Phe					C2orf65_uc010ysa.1_Missense_Mutation_p.S508F|C2orf65_uc010ffp.2_Missense_Mutation_p.S161F|C2orf65_uc002smx.2_Missense_Mutation_p.S264F	p.S512F	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			11	1652	-			512					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1535C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577645	0.28180	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.32023	1.47;1.47;1.47	5.5	3.64	0.41730	.	0.728680	0.12943	N	0.426408	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B;B;B;B	0.32467	0.372;0.372;0.372;0.372	B;B;B;B	0.32624	0.149;0.096;0.149;0.096	T	0.11665	-1.0578	10	0.56958	D	0.05	-10.9312	7.0831	0.25241	0.0876:0.0:0.7421:0.1703	.	508;161;512;264	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	F	512;508;508;161	ENSP00000290536:S512F;ENSP00000386793:S508F;ENSP00000445662:S508F	ENSP00000290536:S512F	S	-	2	0	C2orf65	74639409	0.001000	0.12720	0.154000	0.22540	0.468000	0.32798	0.186000	0.16978	1.509000	0.48786	0.655000	0.94253	TCT		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		14	85	0	0	0	0	14	85				
TRABD2A	129293	broad.mit.edu	37	2	85097636	85097636	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:85097636C>G	ENST00000409520.2	-	2	424	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TRABD2A_ENST00000409133.1_Missense_Mutation_p.E128Q|TRABD2A_ENST00000335459.5_Missense_Mutation_p.E128Q	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	128					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										TTGACATACTCCAGGTGGCGC	0.577																																						uc010ysl.1		NA																	0				ovary(1)	1						c.(382-384)GAG>CAG		hypothetical protein LOC129293 precursor							56.0	60.0	58.0					2																	85097636		2138	4246	6384	SO:0001583	missense	129293					integral to membrane		g.chr2:85097636C>G	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.382G>C	2.37:g.85097636C>G	ENSP00000387075:p.Glu128Gln					C2orf89_uc002sou.3_Missense_Mutation_p.E128Q|C2orf89_uc010fgc.1_Missense_Mutation_p.E128Q	p.E128Q	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			2	471	-			128			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.382G>C		.	.	.	.	.	.	.	.	.	.	C	16.20	3.055088	0.55325	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.08282	3.11;3.11;3.11	3.43	3.43	0.39272	.	0.159397	0.39615	N	0.001317	T	0.16428	0.0395	.	.	.	0.47819	D	0.99952	P;B;P	0.49447	0.924;0.117;0.911	P;B;P	0.55785	0.784;0.124;0.628	T	0.03587	-1.1022	9	0.25751	T	0.34	.	12.3654	0.55226	0.0:1.0:0.0:0.0	.	128;128;128	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	Q	128	ENSP00000335004:E128Q;ENSP00000387075:E128Q;ENSP00000387183:E128Q	ENSP00000335004:E128Q	E	-	1	0	C2orf89	84951147	1.000000	0.71417	0.981000	0.43875	0.944000	0.59088	4.875000	0.63072	1.741000	0.51731	0.462000	0.41574	GAG		0.577	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		15	39	0	0	0	0	15	39				
IL1B	3553	broad.mit.edu	37	2	113591119	113591119	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:113591119C>A	ENST00000263341.2	-	4	343	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	45					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	ATGCCGCCATCCAGAGGGCAG	0.602																																						uc002tii.1		NA																	0				lung(3)|breast(1)	4						c.(133-135)GAT>TAT		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						82.0	79.0	80.0					2																	113591119		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591119C>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.133G>T	2.37:g.113591119C>A	ENSP00000263341:p.Asp45Tyr					IL1B_uc002tih.1_Missense_Mutation_p.D14Y	p.D45Y	NM_000576	NP_000567	P01584	IL1B_HUMAN			4	220	-			45					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.133G>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353224	0.61293	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.52	4.52	0.55395	Interleukin-1 propeptide (1);	0.398053	0.29846	N	0.011047	T	0.71492	0.3346	M	0.83483	2.645	0.09310	N	1	D	0.55605	0.972	D	0.64506	0.926	T	0.64964	-0.6283	10	0.66056	D	0.02	-1.7735	12.921	0.58232	0.0:1.0:0.0:0.0	.	45	P01584	IL1B_HUMAN	Y	45	ENSP00000263341:D45Y;ENSP00000407219:D45Y;ENSP00000409680:D45Y;ENSP00000400854:D45Y	ENSP00000263341:D45Y	D	-	1	0	IL1B	113307590	0.224000	0.23674	0.025000	0.17156	0.175000	0.22909	1.791000	0.38744	2.516000	0.84829	0.555000	0.69702	GAT		0.602	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		29	55	1	0	9.39e-14	1.04e-13	29	55				
LCT	3938	broad.mit.edu	37	2	136579616	136579616	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:136579616C>A	ENST00000264162.2	-	5	970	c.960G>T	c.(958-960)ctG>ctT	p.L320L	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	320	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGAACAACTCAGAAACTCAT	0.313																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(958-960)CTG>CTT		lactase-phlorizin hydrolase preproprotein							134.0	138.0	137.0					2																	136579616		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136579616C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.960G>T	2.37:g.136579616C>A						uc002tuv.1_RNA	p.L320L	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	971	-			320			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.960G>T	CCDS2178.1																																																																																				0.313	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		13	31	1	0	1.05e-09	1.15e-09	13	31				
ACVR1	90	broad.mit.edu	37	2	158617419	158617419	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:158617419C>G	ENST00000263640.3	-	9	1666	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	ACVR1_ENST00000409283.2_Missense_Mutation_p.E413Q|ACVR1_ENST00000434821.1_Missense_Mutation_p.E413Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E413Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	413	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTGGCCACTTCCCACAAAACA	0.433																																						uc002tzm.3		NA																	0				ovary(2)|skin(1)	3						c.(1237-1239)GAA>CAA		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						56.0	53.0	54.0					2																	158617419		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158617419C>G		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1237G>C	2.37:g.158617419C>G	ENSP00000263640:p.Glu413Gln					ACVR1_uc002tzn.3_Missense_Mutation_p.E413Q|ACVR1_uc010fog.2_Missense_Mutation_p.E413Q	p.E413Q	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	10	1576	-			413			Cytoplasmic (Potential).|Protein kinase.			Missense_Mutation	SNP	ENST00000263640.3	37	c.1237G>C	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137021	0.94517	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98528	1.0626	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	413	Q04771	ACVR1_HUMAN	Q	413	ENSP00000263640:E413Q;ENSP00000387273:E413Q;ENSP00000405004:E413Q;ENSP00000387127:E413Q	ENSP00000263640:E413Q	E	-	1	0	ACVR1	158325665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.744000	0.94065	0.563000	0.77884	GAA		0.433	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		5	34	0	0	0	0	5	34				
BAZ2B	29994	broad.mit.edu	37	2	160245956	160245956	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:160245956C>G	ENST00000392783.2	-	21	3611	c.3116G>C	c.(3115-3117)aGa>aCa	p.R1039T	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1005T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1003T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R939T|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1039	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTATTTAATCTTTTCTCATC	0.323																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(3115-3117)AGA>ACA		bromodomain adjacent to zinc finger domain, 2B							220.0	199.0	205.0					2																	160245956		1827	4076	5903	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160245956C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3116G>C	2.37:g.160245956C>G	ENSP00000376534:p.Arg1039Thr					BAZ2B_uc002uap.2_Missense_Mutation_p.R1003T	p.R1039T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			21	3468	-			1039			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3116G>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.820663|1.820663	0.32145|0.32145	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T|T;T;T;T	0.51817|0.28255	0.69|1.62;1.62;1.62;2.44	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.40469	.|U	.|0.001089	T|T	0.47691|0.47691	0.1459|0.1459	L|L	0.43152|0.43152	1.355|1.355	0.51482|0.51482	D|D	0.999925|0.999925	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.71414	.|0.973;0.94	T|T	0.13602|0.13602	-1.0503|-1.0503	7|10	0.72032|0.20519	D|T	0.01|0.43	-16.425|-16.425	19.4825|19.4825	0.95016|0.95016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1003;1039	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	N|T	99|1003;1039;1005;939	ENSP00000294905:K99N|ENSP00000376533:R1003T;ENSP00000376534:R1039T;ENSP00000348087:R1005T;ENSP00000339670:R939T	ENSP00000294905:K99N|ENSP00000339670:R939T	K|R	-|-	3|2	2|0	BAZ2B|BAZ2B	159954202|159954202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.313000|3.313000	0.51935|0.51935	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			23	56	0	0	0	0	23	56				
TTN	7273	broad.mit.edu	37	2	179579947	179579947	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:179579947T>C	ENST00000591111.1	-	88	25239	c.25015A>G	c.(25015-25017)Aaa>Gaa	p.K8339E	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K8656E|TTN_ENST00000342992.6_Missense_Mutation_p.K7412E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12513	Ig-like 66.				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)			TCAGCTCCTTTCAGTGTCTCT	0.398																																						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.(22234-22236)AAA>GAA		titin isoform N2-A							157.0	141.0	146.0					2																	179579947		1857	4103	5960	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579947T>C	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.25015A>G	2.37:g.179579947T>C	ENSP00000465570:p.Lys8339Glu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4073E	p.K7412E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22458	-			8339					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.22234A>G		.	.	.	.	.	.	.	.	.	.	T	14.98	2.696658	0.48202	.	.	ENSG00000155657	ENST00000342992	T	0.36340	1.26	5.62	4.44	0.53790	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27169	0.0666	L	0.31120	0.905	0.80722	D	1	P	0.39094	0.659	B	0.36418	0.224	T	0.05937	-1.0855	9	0.87932	D	0	.	11.7774	0.51993	0.0:0.0694:0.0:0.9306	.	8339	Q8WZ42	TITIN_HUMAN	E	7412	ENSP00000343764:K7412E	ENSP00000343764:K7412E	K	-	1	0	TTN	179288192	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.167000	0.64972	0.943000	0.37553	0.533000	0.62120	AAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	92	0	0	0	0	40	92				
ANKAR	150709	broad.mit.edu	37	2	190571721	190571721	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190571721A>G	ENST00000520309.1	+	9	2056	c.1968A>G	c.(1966-1968)caA>caG	p.Q656Q	ANKAR_ENST00000281412.6_Silent_p.Q420Q|ANKAR_ENST00000313581.4_Silent_p.Q656Q|ANKAR_ENST00000431575.2_Silent_p.Q585Q|ANKAR_ENST00000438402.2_Silent_p.Q656Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	656						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACACTATTCAATACCTGTTTT	0.353																																						uc002uqw.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1753-1755)CAA>CAG		ankyrin and armadillo repeat containing							86.0	85.0	85.0					2																	190571721		2203	4300	6503	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190571721A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1968A>G	2.37:g.190571721A>G						ANKAR_uc002uqu.2_RNA	p.Q585Q	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1755	+			656			ANK 4.		Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1755A>G	CCDS33351.2																																																																																				0.353	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		10	66	0	0	0	0	10	66				
OSGEPL1	64172	broad.mit.edu	37	2	190617430	190617430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190617430C>T	ENST00000264151.5	-	7	1217	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R372H|OSGEPL1_ENST00000519810.1_Intron	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAAGCCAGCACGTAGTCTTTC	0.343																																						uc002uqz.1		NA																	0					0						c.(1114-1116)CGT>CAT		O-sialoglycoprotein endopeptidase-like 1							110.0	101.0	103.0					2																	190617430		1880	4110	5990	SO:0001583	missense	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190617430C>T	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.1115G>A	2.37:g.190617430C>T	ENSP00000264151:p.Arg372His					OSGEPL1_uc002ura.1_Intron	p.R372H	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		7	1649	-			372						Missense_Mutation	SNP	ENST00000264151.5	37	c.1115G>A	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993088	0.35131	.	.	ENSG00000128694	ENST00000264151;ENST00000522700	T;T	0.46063	0.88;0.88	5.01	4.13	0.48395	.	0.213579	0.47093	D	0.000246	T	0.39911	0.1096	M	0.65975	2.015	0.32740	N	0.507811	B	0.17465	0.022	B	0.06405	0.002	T	0.50857	-0.8778	10	0.46703	T	0.11	-11.47	10.0823	0.42397	0.0:0.7874:0.1375:0.0752	.	372	Q9H4B0	OSGP2_HUMAN	H	372	ENSP00000264151:R372H;ENSP00000429697:R372H	ENSP00000264151:R372H	R	-	2	0	OSGEPL1	190325675	0.997000	0.39634	1.000000	0.80357	0.691000	0.40173	0.617000	0.24359	1.339000	0.45563	0.563000	0.77884	CGT		0.343	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		28	59	0	0	0	0	28	59				
CARF	79800	broad.mit.edu	37	2	203834680	203834680	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:203834680G>C	ENST00000402905.3	+	10	1313	c.992G>C	c.(991-993)aGa>aCa	p.R331T	WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.R255T|CARF_ENST00000320443.8_Missense_Mutation_p.R331T|CARF_ENST00000438828.2_Missense_Mutation_p.R331T|CARF_ENST00000414439.1_Missense_Mutation_p.R229T|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545262.1_Missense_Mutation_p.R255T|CARF_ENST00000545253.1_Missense_Mutation_p.R243T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	331					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCTGAATATAGAGTTCCTACA	0.308																																						uc002uzo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(991-993)AGA>ACA		amyotrophic lateral sclerosis 2 (juvenile)							75.0	68.0	71.0					2																	203834680		1799	4065	5864	SO:0001583	missense	79800							g.chr2:203834680G>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.992G>C	2.37:g.203834680G>C	ENSP00000384006:p.Arg331Thr					ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.R255T|ALS2CR8_uc010zib.1_Missense_Mutation_p.R255T|ALS2CR8_uc010zic.1_Missense_Mutation_p.R243T|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R331T	p.R331T	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			10	1272	+			331					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.992G>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731131	0.69189	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.12	4.24	0.50183	.	0.342149	0.29980	N	0.010720	T	0.47002	0.1422	L	0.34521	1.04	0.33040	D	0.531379	P;P;P	0.51240	0.903;0.903;0.943	P;P;P	0.50825	0.531;0.651;0.629	T	0.62243	-0.6895	9	0.72032	D	0.01	-1.2043	12.7128	0.57100	0.08:0.0:0.92:0.0	.	243;255;331	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	T	331;229;255;243;255;331;331	.	ENSP00000316224:R331T	R	+	2	0	ALS2CR8	203542925	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.422000	0.59854	1.147000	0.42369	0.650000	0.86243	AGA		0.308	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		15	22	0	0	0	0	15	22				
ABCA12	26154	broad.mit.edu	37	2	215797408	215797408	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:215797408G>C	ENST00000272895.7	-	53	7957	c.7738C>G	c.(7738-7740)Caa>Gaa	p.Q2580E	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q2262E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2580					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGAACCTTGGCTGCTGGTA	0.423																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(7738-7740)CAA>GAA		ATP-binding cassette, sub-family A, member 12							123.0	118.0	120.0					2																	215797408		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215797408G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7738C>G	2.37:g.215797408G>C	ENSP00000272895:p.Gln2580Glu					ABCA12_uc002vev.2_Missense_Mutation_p.Q2262E|ABCA12_uc010zjn.1_Missense_Mutation_p.Q1507E	p.Q2580E	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	53	7958	-		Renal(323;0.127)	2580					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7738C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375486	0.24857	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86366	-2.11;-2.11	5.8	4.92	0.64577	.	1.442500	0.04050	N	0.304532	T	0.81588	0.4854	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.53995	-0.8359	10	0.02654	T	1	.	15.952	0.79846	0.0:0.1354:0.8646:0.0	.	2580;2262	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	2580;2262	ENSP00000272895:Q2580E;ENSP00000374312:Q2262E	ENSP00000272895:Q2580E	Q	-	1	0	ABCA12	215505653	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.265000	0.58865	1.449000	0.47699	0.557000	0.71058	CAA		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	42	0	0	0	0	14	42				
CBFA2T2	9139	broad.mit.edu	37	20	32232451	32232451	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:32232451G>A	ENST00000346541.3	+	12	2351	c.1814G>A	c.(1813-1815)tGa>tAa	p.*605*	CBFA2T2_ENST00000397800.1_Silent_p.*576*|CBFA2T2_ENST00000492345.1_Silent_p.*576*|CBFA2T2_ENST00000375279.2_Silent_p.*605*|CBFA2T2_ENST00000342704.6_Silent_p.*596*|CBFA2T2_ENST00000543126.1_Silent_p.*153*|CBFA2T2_ENST00000359606.3_Silent_p.*615*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	0					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACGGACTCTGAGCCCCGGAC	0.607																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	0				pancreas(1)|skin(1)	2						c.(1813-1815)TGA>TAA		core-binding factor, runt domain, alpha subunit							82.0	74.0	77.0					20																	32232451		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232451G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1814G>A	20.37:g.32232451G>A						CBFA2T2_uc010zug.1_Silent_p.*379*|CBFA2T2_uc002wze.1_Silent_p.*596*|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.*576*|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.*153*	p.*605*	NM_005093	NP_005084	O43439	MTG8R_HUMAN			12	2351	+			605					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.1814G>A	CCDS13221.1																																																																																				0.607	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		33	99	0	0	0	0	33	99				
EPB41L1	2036	broad.mit.edu	37	20	34761727	34761727	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:34761727G>A	ENST00000338074.2	+	2	189	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E10K|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373950.2_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	10					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCCCGACTCTGAGGTGAAGAA	0.627																																						uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(28-30)GAG>AAG		erythrocyte membrane protein band 4.1-like 1							39.0	43.0	42.0					20																	34761727		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34761727G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.28G>A	20.37:g.34761727G>A	ENSP00000337168:p.Glu10Lys					EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.E10K|EPB41L1_uc002xev.2_Missense_Mutation_p.E10K|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.E10K|EPB41L1_uc002xez.2_Intron	p.E10K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			2	199	+	Breast(12;0.0239)		10					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.28G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343892	0.95807	.	.	ENSG00000088367	ENST00000406771;ENST00000397315;ENST00000452261;ENST00000447825;ENST00000427533;ENST00000338074;ENST00000373941	D;D;D;D	0.89746	-2.37;-2.19;-2.56;-2.56	5.76	5.76	0.90799	.	.	.	.	.	D	0.86213	0.5879	L	0.27053	0.805	0.80722	D	1	P;B;P	0.51791	0.948;0.0;0.941	P;B;B	0.46975	0.533;0.002;0.344	D	0.87957	0.2727	9	0.87932	D	0	.	17.045	0.86500	0.0:0.0:1.0:0.0	.	10;10;10	B7Z653;Q9H4G0;Q4VXN5	.;E41L1_HUMAN;.	K	10	ENSP00000385244:E10K;ENSP00000413262:E10K;ENSP00000337168:E10K;ENSP00000363052:E10K	ENSP00000337168:E10K	E	+	1	0	EPB41L1	34225141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.943000	0.87716	2.879000	0.98667	0.650000	0.86243	GAG		0.627	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		20	69	0	0	0	0	20	69				
RIMS4	140730	broad.mit.edu	37	20	43385614	43385614	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:43385614G>A	ENST00000372851.3	-	5	582	c.516C>T	c.(514-516)gtC>gtT	p.V172V	RIMS4_ENST00000541604.2_Silent_p.V173V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	172	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		p.V172V(1)		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)				ACTTGCGAGCGACTTTGGTCT	0.562																																						uc002xms.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)	5						c.(514-516)GTC>GTT		regulating synaptic membrane exocytosis 4							292.0	266.0	275.0					20																	43385614		2203	4300	6503	SO:0001819	synonymous_variant	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43385614G>A		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	ENST00000372851.3:c.516C>T	20.37:g.43385614G>A						RIMS4_uc010ggu.2_Silent_p.V173V	p.V172V	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			5	516	-		Myeloproliferative disorder(115;0.0122)	172			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	ENST00000372851.3	37	c.516C>T	CCDS13338.1																																																																																				0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		117	361	0	0	0	0	117	361				
ELMO2	63916	broad.mit.edu	37	20	44999107	44999107	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:44999107T>C	ENST00000290246.6	-	20	2053	c.1859A>G	c.(1858-1860)gAg>gGg	p.E620G	ELMO2_ENST00000352077.2_Missense_Mutation_p.E618G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E352G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E632G|ELMO2_ENST00000445496.2_Missense_Mutation_p.E437G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E620G|ELMO2_ENST00000372176.1_Missense_Mutation_p.E532G	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	620	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGCACTTTTCTCTTTCATGTG	0.458																																						uc002xrt.1		NA																	0				ovary(1)	1						c.(1858-1860)GAG>GGG		engulfment and cell motility 2							256.0	202.0	220.0					20																	44999107		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:44999107T>C	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1859A>G	20.37:g.44999107T>C	ENSP00000290246:p.Glu620Gly					ELMO2_uc010zxq.1_Missense_Mutation_p.E352G|ELMO2_uc002xrs.1_Missense_Mutation_p.E367G|ELMO2_uc002xru.1_Missense_Mutation_p.E620G|ELMO2_uc010zxr.1_Missense_Mutation_p.E632G|ELMO2_uc010zxs.1_Missense_Mutation_p.E437G|ELMO2_uc002xrv.1_Missense_Mutation_p.E339G	p.E620G	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			20	2069	-		Myeloproliferative disorder(115;0.0122)	620			PH.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1859A>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839368	0.91117	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.62723	1.935	0.80722	D	1	B;D;D;D	0.69078	0.019;0.997;0.993;0.987	B;P;P;P	0.61275	0.009;0.886;0.727;0.663	T	0.66897	-0.5807	10	0.87932	D	0	-29.4216	14.5546	0.68091	0.0:0.0:0.0:1.0	.	632;352;437;620	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	G	620;532;183;620;632;437;352;618	ENSP00000290246:E620G;ENSP00000361249:E532G;ENSP00000414329:E183G;ENSP00000379673:E620G;ENSP00000396519:E632G;ENSP00000409920:E437G;ENSP00000415641:E352G;ENSP00000326172:E618G	ENSP00000290246:E620G	E	-	2	0	ELMO2	44432514	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.868000	0.87116	2.210000	0.71456	0.533000	0.62120	GAG		0.458	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		27	107	0	0	0	0	27	107				
ITSN1	6453	broad.mit.edu	37	21	35208792	35208792	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr21:35208792G>C	ENST00000381318.3	+	29	3805	c.3517G>C	c.(3517-3519)Gag>Cag	p.E1173Q	ITSN1_ENST00000399353.1_Missense_Mutation_p.E1131Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1168Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1168Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1102Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E1097Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1168Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1173	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAATGACGATGAGCTGGCCTT	0.572																																						uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(3517-3519)GAG>CAG		intersectin 1 isoform ITSN-l							85.0	72.0	76.0					21																	35208792		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208792G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3517G>C	21.37:g.35208792G>C	ENSP00000370719:p.Glu1173Gln					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E1097Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E1060Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E1173Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E1136Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E1052Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E1168Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E1131Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E1168Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E1065Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E1168Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E1036Q|ITSN1_uc002yti.1_RNA	p.E1173Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			29	3785	+			1173			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3517G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535235	0.85812	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.46	4.46	0.54185	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.998;1.0	D	0.86947	0.2083	10	0.87932	D	0	.	17.1476	0.86770	0.0:0.0:1.0:0.0	.	1065;1136;1060;1168;1102;1168;1173;1097;1131	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Q	1131;1173;1173;1173;1102;1168;1168;1102;1097;1168	ENSP00000382290:E1131Q;ENSP00000370719:E1173Q;ENSP00000370691:E1173Q;ENSP00000370685:E1173Q;ENSP00000382301:E1168Q;ENSP00000382289:E1168Q;ENSP00000382292:E1102Q;ENSP00000382286:E1097Q;ENSP00000387377:E1168Q	ENSP00000370685:E1173Q	E	+	1	0	ITSN1	34130662	1.000000	0.71417	0.994000	0.49952	0.758000	0.43043	9.671000	0.98627	2.018000	0.59344	0.637000	0.83480	GAG		0.572	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		19	26	0	0	0	0	19	26				
NPTXR	23467	broad.mit.edu	37	22	39222541	39222541	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:39222541C>T	ENST00000333039.2	-	3	1185	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	354	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCTCATGGCCCGCCTCTAGCA	0.667																																					Pancreas(139;2521 3281 36965)	uc003awk.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1060-1062)GCG>GCA		neuronal pentraxin receptor							64.0	64.0	64.0					22																	39222541		2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39222541C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1062G>A	22.37:g.39222541C>T							p.A354A	NM_014293	NP_055108	O95502	NPTXR_HUMAN			3	1216	-	Melanoma(58;0.04)		354			Pentaxin.|Extracellular (Potential).			Silent	SNP	ENST00000333039.2	37	c.1062G>A	CCDS33647.1																																																																																				0.667	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		15	95	0	0	0	0	15	95				
POLDIP3	84271	broad.mit.edu	37	22	42981957	42981957	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:42981957G>T	ENST00000252115.5	-	9	1210	c.1106C>A	c.(1105-1107)cCa>cAa	p.P369Q	POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P340Q|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	369					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTTCATTGATGGGCTGTCACT	0.552																																					Ovarian(52;967 1128 5875 19997 42537)	uc003bcu.2		NA																	0					0						c.(1105-1107)CCA>CAA		DNA polymerase delta interacting protein 3							32.0	26.0	28.0					22																	42981957		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42981957G>T		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1106C>A	22.37:g.42981957G>T	ENSP00000252115:p.Pro369Gln					POLDIP3_uc011app.1_3'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.P340Q|POLDIP3_uc011apq.1_Missense_Mutation_p.P386Q|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	p.P369Q	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN			9	1205	-			369					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.1106C>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236189	0.79800	.	.	ENSG00000100227	ENST00000348657;ENST00000252115	.	.	.	5.66	4.62	0.57501	.	0.108992	0.64402	D	0.000005	T	0.66867	0.2833	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.67841	-0.5566	9	0.44086	T	0.13	-17.9179	16.4079	0.83697	0.0:0.1318:0.8682:0.0	.	386;340;369	B4E0L0;Q9BY77-2;Q9BY77	.;.;PDIP3_HUMAN	Q	340;369	.	ENSP00000252115:P369Q	P	-	2	0	POLDIP3	41311901	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	6.875000	0.75551	1.355000	0.45865	0.555000	0.69702	CCA		0.552	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		7	35	1	0	8.13e-05	8.63e-05	7	35				
MAATS1	89876	broad.mit.edu	37	3	119462951	119462951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:119462951G>A	ENST00000273390.5	+	14	1887	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	440						mitochondrion (GO:0005739)											CATGCTGGCTGAGCGCCAGCG	0.572																																						uc003ede.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1810-1812)GAG>AAG		AAT1-alpha							86.0	78.0	81.0					3																	119462951		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462951G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1810G>A	3.37:g.119462951G>A	ENSP00000273390:p.Glu604Lys					C3orf15_uc010hqz.2_Missense_Mutation_p.E542K|C3orf15_uc011bjd.1_Missense_Mutation_p.E478K|C3orf15_uc011bje.1_Missense_Mutation_p.E584K	p.E604K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	14	1887	+			440					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1810G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	36	5.760848	0.96906	.	.	ENSG00000183833	ENST00000273390	T	0.31769	1.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.993	T	0.66484	-0.5912	10	0.59425	D	0.04	-6.8645	19.7305	0.96180	0.0:0.0:1.0:0.0	.	440;542;604	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	K	604	ENSP00000273390:E604K	ENSP00000273390:E604K	E	+	1	0	C3orf15	120945641	1.000000	0.71417	0.813000	0.32504	0.936000	0.57629	7.368000	0.79567	2.663000	0.90544	0.484000	0.47621	GAG		0.572	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		33	78	0	0	0	0	33	78				
KALRN	8997	broad.mit.edu	37	3	124398320	124398320	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:124398320G>A	ENST00000462213.1	+	3	408	c.184G>A	c.(184-186)Gag>Aag	p.E62K	KALRN_ENST00000291478.5_Missense_Mutation_p.E748K|KALRN_ENST00000428018.2_Missense_Mutation_p.E716K|KALRN_ENST00000360013.3_Missense_Mutation_p.E2445K			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2444	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAACAGTTCCGAGGAATCAGA	0.428																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7333-7335)GAG>AAG		kalirin, RhoGEF kinase isoform 1							278.0	236.0	250.0					3																	124398320		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124398320G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.184G>A	3.37:g.124398320G>A	ENSP00000418790:p.Glu62Lys					KALRN_uc003ehk.2_Missense_Mutation_p.E748K	p.E2445K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			51	7460	+			2444					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7333G>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.900812	0.72754	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.59638	0.25;0.73;0.73;0.52	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.34513	0.0900	N	0.08118	0	0.47862	D	0.999538	D;P	0.57899	0.981;0.897	B;B	0.36922	0.236;0.114	T	0.29336	-1.0015	10	0.12766	T	0.61	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	748;2444	C9JQ37;O60229	.;KALRN_HUMAN	K	2445;748;716;62	ENSP00000353109:E2445K;ENSP00000291478:E748K;ENSP00000402419:E716K;ENSP00000418790:E62K	ENSP00000291478:E748K	E	+	1	0	KALRN	125881010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.789000	0.91839	2.806000	0.96561	0.655000	0.94253	GAG		0.428	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		38	122	0	0	0	0	38	122				
HLTF	6596	broad.mit.edu	37	3	148781271	148781271	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:148781271G>C	ENST00000310053.5	-	10	1300	c.1107C>G	c.(1105-1107)atC>atG	p.I369M	HLTF_ENST00000494055.1_Missense_Mutation_p.I369M|HLTF_ENST00000465259.1_Missense_Mutation_p.I369M|HLTF_ENST00000392912.2_Missense_Mutation_p.I369M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	369					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTCTCCTTGATATCTGAAA	0.333																																						uc003ewq.1		NA																	0				ovary(1)	1						c.(1105-1107)ATC>ATG		helicase-like transcription factor							135.0	138.0	137.0					3																	148781271		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148781271G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1107C>G	3.37:g.148781271G>C	ENSP00000308944:p.Ile369Met					HLTF_uc003ewr.1_Missense_Mutation_p.I369M|HLTF_uc003ews.1_Missense_Mutation_p.I369M|HLTF_uc010hve.1_Missense_Mutation_p.I369M	p.I369M	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	1325	-			369					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1107C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.958115	0.34565	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.86	4.01	0.46588	DEAD-like helicase (1);	.	.	.	.	T	0.79805	0.4509	N	0.08118	0	0.18873	N	0.999987	B;B;B	0.21225	0.053;0.053;0.0	B;B;B	0.32022	0.139;0.077;0.006	T	0.69917	-0.5015	9	0.46703	T	0.11	-12.6683	9.3632	0.38208	0.0767:0.2736:0.6497:0.0	.	369;369;369	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	M	369;369;369;369;366;366	ENSP00000420745:I369M;ENSP00000308944:I369M;ENSP00000376644:I369M;ENSP00000420429:I369M	ENSP00000308944:I369M	I	-	3	3	HLTF	150263961	0.187000	0.23238	0.867000	0.34043	0.915000	0.54546	0.260000	0.18424	0.866000	0.35629	0.650000	0.86243	ATC		0.333	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			25	61	0	0	0	0	25	61				
TNIK	23043	broad.mit.edu	37	3	170786641	170786641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:170786641G>T	ENST00000436636.2	-	30	4039	c.3695C>A	c.(3694-3696)tCt>tAt	p.S1232Y	TNIK_ENST00000369326.5_Missense_Mutation_p.S1210Y|TNIK_ENST00000284483.8_Missense_Mutation_p.S1224Y|TNIK_ENST00000475336.1_Missense_Mutation_p.S1140Y|TNIK_ENST00000341852.6_Missense_Mutation_p.S1148Y|TNIK_ENST00000460047.1_Missense_Mutation_p.S1169Y|TNIK_ENST00000488470.1_Missense_Mutation_p.S1177Y|TNIK_ENST00000357327.5_Missense_Mutation_p.S1203Y|TNIK_ENST00000470834.1_Missense_Mutation_p.S1195Y|TNIK_ENST00000538048.1_Missense_Mutation_p.S1184Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1232	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTACATGAGATGGTATGTA	0.363																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3694-3696)TCT>TAT		TRAF2 and NCK interacting kinase isoform 1							72.0	69.0	70.0					3																	170786641		1867	4099	5966	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170786641G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3695C>A	3.37:g.170786641G>T	ENSP00000399511:p.Ser1232Tyr					TNIK_uc003fhi.2_Missense_Mutation_p.S1177Y|TNIK_uc003fhj.2_Missense_Mutation_p.S1203Y|TNIK_uc003fhk.2_Missense_Mutation_p.S1224Y|TNIK_uc003fhl.2_Missense_Mutation_p.S1148Y|TNIK_uc003fhm.2_Missense_Mutation_p.S1169Y|TNIK_uc003fhn.2_Missense_Mutation_p.S1195Y|TNIK_uc003fho.2_Missense_Mutation_p.S1140Y|TNIK_uc003fhg.2_Missense_Mutation_p.S410Y|TNIK_uc003fhp.2_Missense_Mutation_p.S164Y	p.S1232Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		30	4040	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1232			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3695C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603105	0.87157	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44;3.44;3.44;3.44;3.44	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.42245	1.32	0.80722	D	1	D;P;D;P;P;D;D;P;D	0.71674	0.993;0.763;0.996;0.892;0.763;0.997;0.997;0.892;0.998	P;B;P;B;B;P;P;B;D	0.66196	0.905;0.323;0.796;0.413;0.323;0.905;0.854;0.413;0.942	T	0.00010	-1.2453	10	0.72032	D	0.01	.	16.8219	0.85748	0.0:0.1283:0.8717:0.0	.	1184;1140;1195;1169;1148;1224;1203;1177;1232	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	Y	1232;1210;1184;1148;1224;1140;1203;1169;1177;1195	ENSP00000399511:S1232Y;ENSP00000358332:S1210Y;ENSP00000443278:S1184Y;ENSP00000345352:S1148Y;ENSP00000284483:S1224Y;ENSP00000418156:S1140Y;ENSP00000349880:S1203Y;ENSP00000418916:S1169Y;ENSP00000418378:S1177Y;ENSP00000419990:S1195Y	ENSP00000284483:S1224Y	S	-	2	0	TNIK	172269335	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.699000	0.74613	2.882000	0.98803	0.655000	0.94253	TCT		0.363	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		8	46	1	0	0.000157383	0.000166481	8	46				
GRK4	2868	broad.mit.edu	37	4	3021418	3021418	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:3021418C>T	ENST00000398052.4	+	9	1135	c.792C>T	c.(790-792)ctC>ctT	p.L264L	GRK4_ENST00000504933.1_Silent_p.L264L|GRK4_ENST00000398051.4_Silent_p.L232L|GRK4_ENST00000345167.6_Silent_p.L232L	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTTGGTGCTCACCATTATGA	0.433																																						uc003ggn.1		NA																	0				lung(1)	1						c.(790-792)CTC>CTT		G protein-coupled receptor kinase 4 isoform							208.0	189.0	195.0					4																	3021418		2203	4300	6503	SO:0001819	synonymous_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3021418C>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.792C>T	4.37:g.3021418C>T						GRK4_uc003ggo.1_Silent_p.L264L|GRK4_uc003ggp.1_Silent_p.L232L|GRK4_uc003ggq.1_Silent_p.L232L	p.L264L	NM_182982	NP_892027	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	1247	+			264			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	c.792C>T	CCDS33946.1																																																																																				0.433	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		44	60	0	0	0	0	44	60				
STX18	53407	broad.mit.edu	37	4	4458949	4458949	+	Silent	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:4458949G>T	ENST00000306200.2	-	5	529	c.466C>A	c.(466-468)Cga>Aga	p.R156R	STX18_ENST00000505286.1_Silent_p.R156R	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	156					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTTTTAACTCGGATGGCTCTC	0.343																																						uc003gic.2		NA																	0					0						c.(466-468)CGA>AGA		syntaxin 18							95.0	85.0	88.0					4																	4458949		2203	4300	6503	SO:0001819	synonymous_variant	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4458949G>T	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.466C>A	4.37:g.4458949G>T							p.R156R	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	5	550	-			156			Cytoplasmic (Potential).		Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	37	c.466C>A	CCDS3377.1																																																																																				0.343	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			7	26	1	0	3.1e-07	3.36e-07	7	26				
BOD1L1	259282	broad.mit.edu	37	4	13601055	13601055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:13601055G>T	ENST00000040738.5	-	10	7604	c.7469C>A	c.(7468-7470)tCa>tAa	p.S2490*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2490						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCTTCCTGCTGAATAACTTGC	0.507											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(7468-7470)TCA>TAA		biorientation of chromosomes in cell division							77.0	69.0	72.0					4																	13601055		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13601055G>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7469C>A	4.37:g.13601055G>T	ENSP00000040738:p.Ser2490*		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	BOD1L_uc010idr.1_Nonsense_Mutation_p.S1827*	p.S2490*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7586	-			2490					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.7469C>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	49	15.041901	0.99820	.	.	ENSG00000038219	ENST00000040738	.	.	.	4.83	3.98	0.46160	.	0.865365	0.09654	N	0.773325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9592	0.47374	0.0:0.2057:0.7943:0.0	.	.	.	.	X	2490	.	ENSP00000040738:S2490X	S	-	2	0	BOD1L	13210153	0.000000	0.05858	0.005000	0.12908	0.497000	0.33675	0.348000	0.20031	1.019000	0.39547	0.555000	0.69702	TCA		0.507	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		11	49	1	0	1.62e-10	1.78e-10	11	49				
UGT2A1	10941	broad.mit.edu	37	4	70512979	70512979	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:70512979G>A	ENST00000503640.1	-	1	439	c.384C>T	c.(382-384)ggC>ggT	p.G128G	UGT2A1_ENST00000514019.1_Silent_p.G128G|UGT2A1_ENST00000286604.4_Silent_p.G128G|UGT2A1_ENST00000512704.1_Silent_p.G128G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	128					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTAAGAACGCCATCACAGA	0.418																																						uc003hem.3		NA																	0				ovary(1)	1						c.(382-384)GGC>GGT		UDP glucuronosyltransferase 2 family,							109.0	103.0	105.0					4																	70512979		2203	4299	6502	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70512979G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.384C>T	4.37:g.70512979G>A						UGT2A1_uc011caq.1_Silent_p.G128G|UGT2A1_uc010ihu.2_Silent_p.G128G|UGT2A1_uc010iht.2_Silent_p.G128G	p.G128G	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	447	-			128			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.384C>T	CCDS3529.1																																																																																				0.418	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		19	36	0	0	0	0	19	36				
CNOT6L	246175	broad.mit.edu	37	4	78641757	78641757	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:78641757T>A	ENST00000504123.1	-	12	1626	c.1496A>T	c.(1495-1497)aAc>aTc	p.N499I	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N499I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	499	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						ACCAAGCACGTTCATATGAGT	0.428																																						uc011ccd.1		NA																	0				large_intestine(1)	1						c.(1495-1497)AAC>ATC		CCR4-NOT transcription complex, subunit 6-like							146.0	141.0	143.0					4																	78641757		1918	4130	6048	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641757T>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1496A>T	4.37:g.78641757T>A	ENSP00000424896:p.Asn499Ile					CNOT6L_uc003hks.2_Missense_Mutation_p.N499I	p.N499I	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			12	1627	-			499					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1496A>T		.	.	.	.	.	.	.	.	.	.	T	16.32	3.089720	0.55968	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.31247	1.5;1.5;1.65	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.119263	0.53938	U	0.000041	T	0.22975	0.0555	N	0.17082	0.46	0.53005	D	0.999967	B	0.11235	0.004	B	0.16722	0.016	T	0.03184	-1.1063	10	0.37606	T	0.19	-4.1631	16.4219	0.83766	0.0:0.0:0.0:1.0	.	499	Q96LI5	CNO6L_HUMAN	I	499;499;506	ENSP00000424896:N499I;ENSP00000264903:N499I;ENSP00000425571:N506I	ENSP00000264903:N499I	N	-	2	0	CNOT6L	78860781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.013000	0.40942	2.277000	0.76020	0.528000	0.53228	AAC		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			40	131	0	0	0	0	40	131				
EGF	1950	broad.mit.edu	37	4	110866313	110866313	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:110866313A>G	ENST00000265171.5	+	5	1267	c.822A>G	c.(820-822)aaA>aaG	p.K274K	EGF_ENST00000509793.1_Silent_p.K274K|EGF_ENST00000503392.1_Silent_p.K274K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	274					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TAGCCAACAAACACACTGGAA	0.398																																						uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(820-822)AAA>AAG		epidermal growth factor precursor	Sulindac(DB00605)						139.0	113.0	122.0					4																	110866313		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110866313A>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.822A>G	4.37:g.110866313A>G						EGF_uc011cfu.1_Silent_p.K274K|EGF_uc011cfv.1_Silent_p.K274K	p.K274K	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1274	+		Hepatocellular(203;0.0893)	274			Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.822A>G	CCDS3689.1																																																																																				0.398	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			7	23	0	0	0	0	7	23				
DCHS2	54798	broad.mit.edu	37	4	155161884	155161884	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:155161884A>G	ENST00000357232.4	-	23	5798	c.5799T>C	c.(5797-5799)aaT>aaC	p.N1933N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1933	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTTCCAGGATTACTCTCTT	0.383																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(5797-5799)AAT>AAC		dachsous 2 isoform 1							129.0	115.0	119.0					4																	155161884		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155161884A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5799T>C	4.37:g.155161884A>G							p.N1933N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	23	5799	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1933			Cadherin 17.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5799T>C	CCDS3785.1																																																																																				0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		16	55	0	0	0	0	16	55				
AHRR	57491	broad.mit.edu	37	5	422960	422960	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:422960G>A	ENST00000505113.1	+	6	614	c.570G>A	c.(568-570)ccG>ccA	p.P190P	AHRR_ENST00000512529.1_Silent_p.P36P|AHRR_ENST00000316418.5_Silent_p.P190P|AHRR_ENST00000506456.1_Silent_p.P46P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGCAGCCCCCGCCCTTGGAGA	0.592																																						uc003jav.2		NA																	0				breast(2)	2						c.(568-570)CCG>CCA		arylhydrocarbon receptor repressor							39.0	45.0	43.0					5																	422960		2013	4179	6192	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422960G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.570G>A	5.37:g.422960G>A						AHRR_uc003jaw.2_Silent_p.P186P|AHRR_uc010isy.2_Silent_p.P36P|AHRR_uc010isz.2_Silent_p.P186P|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Silent_p.P46P	p.P190P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	614	+			190					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.570G>A	CCDS56355.1																																																																																				0.592	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		6	47	0	0	0	0	6	47				
SPEF2	79925	broad.mit.edu	37	5	35692806	35692806	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:35692806G>A	ENST00000356031.3	+	12	2033	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	SPEF2_ENST00000440995.2_Missense_Mutation_p.E627K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.E627K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	627					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTGCAAGAGGAGATTAA	0.393																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1879-1881)GAG>AAG		KPL2 protein isoform 1							95.0	96.0	96.0					5																	35692806		1848	4091	5939	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35692806G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1879G>A	5.37:g.35692806G>A	ENSP00000348314:p.Glu627Lys					SPEF2_uc003jjq.3_Missense_Mutation_p.E627K|SPEF2_uc003jjp.1_Missense_Mutation_p.E118K	p.E627K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1990	+	all_lung(31;7.56e-05)		627					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1879G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	1.193	-0.634754	0.03584	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.30981	3.36;3.18;3.32;1.51	3.7	1.93	0.25924	.	1.626030	0.03654	N	0.241444	T	0.28632	0.0709	L	0.51422	1.61	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.18272	-1.0342	10	0.22706	T	0.39	.	6.0081	0.19557	0.2363:0.0:0.7637:0.0	.	627;627;627	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	K	627;627;627;138	ENSP00000348314:E627K;ENSP00000421593:E627K;ENSP00000412125:E627K;ENSP00000421744:E138K	ENSP00000348314:E627K	E	+	1	0	SPEF2	35728563	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.861000	0.04268	0.563000	0.29222	0.460000	0.39030	GAG		0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		21	41	0	0	0	0	21	41				
VCAN	1462	broad.mit.edu	37	5	82834175	82834175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:82834175G>T	ENST00000265077.3	+	8	5918	c.5353G>T	c.(5353-5355)Gaa>Taa	p.E1785*	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E798*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1785	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E1785*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTCTGAAAGGGAAATGACAGA	0.403																																						uc003kii.3		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5353-5355)GAA>TAA		versican isoform 1 precursor							60.0	64.0	63.0					5																	82834175		2203	4299	6502	SO:0001587	stop_gained	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834175G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5353G>T	5.37:g.82834175G>T	ENSP00000265077:p.Glu1785*					VCAN_uc003kij.3_Nonsense_Mutation_p.E798*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.E449*	p.E1785*	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5709	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1785			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	c.5353G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	47	13.586169	0.99751	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.7	3.86	0.44501	.	0.295688	0.29438	N	0.012144	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	5.2013	0.15267	0.1717:0.0:0.6554:0.1729	.	.	.	.	X	1785;798;798	.	ENSP00000265077:E1785X	E	+	1	0	VCAN	82869931	0.207000	0.23482	0.005000	0.12908	0.064000	0.16182	1.172000	0.31908	1.362000	0.46000	0.655000	0.94253	GAA		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		27	24	1	0	2.24e-21	2.53e-21	27	24				
RASA1	5921	broad.mit.edu	37	5	86675622	86675622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:86675622C>G	ENST00000274376.6	+	19	3122	c.2558C>G	c.(2557-2559)tCa>tGa	p.S853*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.S686*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S687*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Nonsense_Mutation_p.S676*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	853	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACATACTTTCAGAGCTTGTG	0.303																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2557-2559)TCA>TGA		RAS p21 protein activator 1 isoform 1							84.0	85.0	85.0					5																	86675622		2203	4295	6498	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86675622C>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2558C>G	5.37:g.86675622C>G	ENSP00000274376:p.Ser853*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.S676*|RASA1_uc011ctv.1_Nonsense_Mutation_p.S686*|RASA1_uc011ctw.1_Nonsense_Mutation_p.S687*|RASA1_uc010jaw.2_Nonsense_Mutation_p.S675*	p.S853*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2676	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	853			Ras-GAP.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.2558C>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	40	8.299309	0.98750	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	4.98	4.98	0.66077	.	0.131761	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.6267	0.91342	0.0:1.0:0.0:0.0	.	.	.	.	X	853;676;686;687	.	ENSP00000274376:S853X	S	+	2	0	RASA1	86711378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.865000	0.69583	2.470000	0.83445	0.655000	0.94253	TCA		0.303	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	17	0	0	0	0	14	17				
ADAMTS19	171019	broad.mit.edu	37	5	128984583	128984583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:128984583G>C	ENST00000274487.4	+	13	2223	c.2078G>C	c.(2077-2079)aGa>aCa	p.R693T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	693	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTGGATTCAGAGACTGGCAA	0.448																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2077-2079)AGA>ACA		ADAM metallopeptidase with thrombospondin type 1							155.0	161.0	159.0					5																	128984583		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128984583G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2078G>C	5.37:g.128984583G>C	ENSP00000274487:p.Arg693Thr					ADAMTS19_uc010jdh.1_RNA	p.R693T	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	13	2078	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	693			Cys-rich.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2078G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284665	0.80803	.	.	ENSG00000145808	ENST00000274487	T	0.62941	-0.01	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000002	T	0.73892	0.3645	H	0.96015	3.755	0.58432	D	0.999995	P	0.51057	0.941	B	0.39027	0.288	D	0.85462	0.1167	9	.	.	.	.	18.3109	0.90199	0.0:0.0:1.0:0.0	.	693	Q8TE59	ATS19_HUMAN	T	693	ENSP00000274487:R693T	.	R	+	2	0	ADAMTS19	129012482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.979000	0.88103	2.734000	0.93682	0.655000	0.94253	AGA		0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	44	0	0	0	0	48	44				
PCDHB16	57717	broad.mit.edu	37	5	140568765	140568765	+	IGR	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:140568765G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAGGTGCGCACCGCCAGG	0.692																																						uc003liw.1		NA																	0					0						c.(1873-1875)CGC>CAC		protocadherin beta 9 precursor							17.0	18.0	17.0					5																	140568765		1907	3784	5691	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568765G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568765G>A							p.R625H	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1874	+			625			Extracellular (Potential).|Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1874G>A	CCDS4251.1																																																																																				0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		35	36	0	0	0	0	35	36				
RNF14	9604	broad.mit.edu	37	5	141358012	141358012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358012C>T	ENST00000394520.2	+	5	760	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	RNF14_ENST00000394519.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394514.2_Nonsense_Mutation_p.Q25*|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	151					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATTGGTTCTCAGAAAAAAGT	0.463																																						uc003lly.2		NA																	0					0						c.(451-453)CAG>TAG		ring finger protein 14 isoform 1							77.0	69.0	71.0					5																	141358012		2203	4300	6503	SO:0001587	stop_gained	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141358012C>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.451C>T	5.37:g.141358012C>T	ENSP00000378028:p.Gln151*					RNF14_uc003llz.2_Nonsense_Mutation_p.Q151*|RNF14_uc003lma.2_Nonsense_Mutation_p.Q151*|RNF14_uc003lmb.2_Nonsense_Mutation_p.Q25*|RNF14_uc003lmc.2_Nonsense_Mutation_p.Q151*|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Nonsense_Mutation_p.Q151*	p.Q151*	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	490	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	151					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Nonsense_Mutation	SNP	ENST00000394520.2	37	c.451C>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.581952	0.97680	.	.	ENSG00000013561	ENST00000511961;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394514;ENST00000507163;ENST00000394519	.	.	.	5.27	5.27	0.74061	.	2.202760	0.02124	N	0.055844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.9472	0.92626	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;151;151;151;25;151;151	.	ENSP00000324956:Q151X	Q	+	1	0	RNF14	141338196	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	2.408000	0.44574	2.482000	0.83794	0.558000	0.71614	CAG		0.463	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		11	11	0	0	0	0	11	11				
RNF14	9604	broad.mit.edu	37	5	141358039	141358039	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358039C>G	ENST00000394520.2	+	5	787	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	RNF14_ENST00000394519.1_Missense_Mutation_p.Q160E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.Q160E|RNF14_ENST00000394514.2_Missense_Mutation_p.Q34E|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.Q160E|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	160					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGGACAGCTCAAGCTTCTCC	0.443																																						uc003lly.2		NA																	0					0						c.(478-480)CAA>GAA		ring finger protein 14 isoform 1							65.0	59.0	61.0					5																	141358039		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141358039C>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.478C>G	5.37:g.141358039C>G	ENSP00000378028:p.Gln160Glu					RNF14_uc003llz.2_Missense_Mutation_p.Q160E|RNF14_uc003lma.2_Missense_Mutation_p.Q160E|RNF14_uc003lmb.2_Missense_Mutation_p.Q34E|RNF14_uc003lmc.2_Missense_Mutation_p.Q160E|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.Q160E	p.Q160E	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	517	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	160					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.478C>G	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778836	0.16120	.	.	ENSG00000013561	ENST00000511961;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394514;ENST00000507163;ENST00000394519	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.27	4.39	0.52855	.	1.272870	0.04992	N	0.467475	T	0.77994	0.4214	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58875	-0.7559	10	0.02654	T	1	.	11.752	0.51853	0.0:0.8595:0.0:0.1405	.	160	Q9UBS8	RNF14_HUMAN	E	160;160;160;160;160;34;160;160	ENSP00000348462:Q160E;ENSP00000378028:Q160E;ENSP00000324956:Q160E;ENSP00000378022:Q34E;ENSP00000378027:Q160E	ENSP00000324956:Q160E	Q	+	1	0	RNF14	141338223	0.000000	0.05858	0.055000	0.19348	0.938000	0.57974	0.726000	0.25984	2.482000	0.83794	0.558000	0.71614	CAA		0.443	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		6	15	0	0	0	0	6	15				
HIST1H2BB	3018	broad.mit.edu	37	6	26043802	26043802	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26043802C>G	ENST00000357905.2	-	1	83	c.84G>C	c.(82-84)aaG>aaC	p.K28N	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507																																						uc003nfu.2		NA																	0					0						c.(82-84)AAG>AAC		histone cluster 1, H2bb							159.0	150.0	153.0					6																	26043802		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043802C>G	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.84G>C	6.37:g.26043802C>G	ENSP00000350580:p.Lys28Asn					HIST1H3C_uc003nfv.2_5'Flank	p.K28N	NM_021062	NP_066406	P33778	H2B1B_HUMAN			1	84	-			28					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.84G>C	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	C	6.520	0.464142	0.12402	.	.	ENSG00000196226	ENST00000357905	T	0.25085	1.82	5.34	2.59	0.31030	Histone-fold (2);	0.000000	0.64402	U	0.000011	T	0.15435	0.0372	M	0.84326	2.69	0.35039	D	0.759521	P	0.37573	0.6	B	0.31686	0.134	T	0.04400	-1.0954	10	0.87932	D	0	.	10.396	0.44201	0.0:0.7842:0.0:0.2158	.	28	P33778	H2B1B_HUMAN	N	28	ENSP00000350580:K28N	ENSP00000350580:K28N	K	-	3	2	HIST1H2BB	26151781	1.000000	0.71417	0.870000	0.34147	0.010000	0.07245	2.201000	0.42734	0.318000	0.23185	-0.150000	0.13652	AAG		0.507	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		38	117	0	0	0	0	38	117				
HIST1H3D	8351	broad.mit.edu	37	6	26197074	26197074	+	Missense_Mutation	SNP	C	C	A	rs184040601		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26197074C>A	ENST00000356476.2	-	1	404	c.405G>T	c.(403-405)agG>agT	p.R135S	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.R135S			P68431	H31_HUMAN	histone cluster 1, H3d	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAATTTACGCCCTCTCCCCAC	0.502																																					GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(403-405)AGG>AGT		histone cluster 1, H3d							93.0	89.0	90.0					6																	26197074		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197074C>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.405G>T	6.37:g.26197074C>A	ENSP00000366999:p.Arg135Ser					HIST1H2BF_uc003ngx.2_5'Flank	p.R135S	NM_003530	NP_003521	P68431	H31_HUMAN			2	802	-		all_hematologic(11;0.196)	135	Missing (in Ref. 2; AAA52651).				A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.405G>T	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	7.398	0.632124	0.14322	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.49720	0.77;0.77	4.28	-2.05	0.07321	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.24168	N	0.99564	.	.	.	.	.	.	T	0.40040	-0.9584	6	0.66056	D	0.02	.	6.9515	0.24548	0.0:0.4077:0.125:0.4673	.	.	.	.	S	135	ENSP00000366999:R135S;ENSP00000367062:R135S	ENSP00000366999:R135S	R	-	3	2	HIST1H3D	26305053	0.088000	0.21588	0.001000	0.08648	0.020000	0.10135	-0.873000	0.04214	-0.479000	0.06813	-1.202000	0.01658	AGG		0.502	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		28	40	1	0	7.26e-15	8.1e-15	28	40				
DDR1	780	broad.mit.edu	37	6	30859860	30859860	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30859860C>G	ENST00000324771.8	+	9	1295	c.747C>G	c.(745-747)gtC>gtG	p.V249V	DDR1_ENST00000454612.2_Silent_p.V249V|DDR1_ENST00000452441.1_Silent_p.V249V|DDR1_ENST00000508312.1_Silent_p.V267V|DDR1_ENST00000446312.1_Missense_Mutation_p.S216C|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.V249V|DDR1_ENST00000418800.2_Silent_p.V249V|DDR1_ENST00000376567.2_Silent_p.V249V|DDR1_ENST00000376570.4_Silent_p.V249V|DDR1_ENST00000513240.1_Silent_p.V249V|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Silent_p.V249V|DDR1_ENST00000376568.3_Silent_p.V249V|DDR1_ENST00000508472.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	249	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGCTGCGGGTCTGGCCAGGCT	0.577																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(745-747)GTC>GTG		discoidin domain receptor family, member 1	Imatinib(DB00619)						132.0	131.0	131.0					6																	30859860		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859860C>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.747C>G	6.37:g.30859860C>G						DDR1_uc010jse.2_Silent_p.V249V|DDR1_uc003nrq.2_Silent_p.V249V|DDR1_uc003nrs.2_Silent_p.V249V|DDR1_uc003nrt.2_Silent_p.V249V|DDR1_uc011dms.1_Silent_p.V267V|DDR1_uc003nru.2_Silent_p.V249V|DDR1_uc011dmu.1_Missense_Mutation_p.S216C|DDR1_uc003nrv.2_Silent_p.V249V|DDR1_uc003nrw.1_Silent_p.V48V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	p.V249V	NM_013993	NP_054699	Q08345	DDR1_HUMAN			8	1006	+			249			Extracellular (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.747C>G	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221539	0.39300	.	.	ENSG00000204580	ENST00000446312	D	0.98362	-4.89	3.82	-0.661	0.11417	.	.	.	.	.	D	0.91345	0.7270	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84544	0.0640	8	0.72032	D	0.01	.	1.4255	0.02322	0.1497:0.3039:0.3361:0.2103	.	216	Q08345-4	.	C	216	ENSP00000405998:S216C	ENSP00000405998:S216C	S	+	2	0	DDR1	30967839	0.950000	0.32346	0.999000	0.59377	0.930000	0.56654	0.017000	0.13399	0.037000	0.15575	0.462000	0.41574	TCT		0.577	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		54	89	0	0	0	0	54	89				
DDR1	780	broad.mit.edu	37	6	30860256	30860256	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30860256C>T	ENST00000324771.8	+	10	1584	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	DDR1_ENST00000454612.2_Silent_p.L346L|DDR1_ENST00000452441.1_Silent_p.L346L|DDR1_ENST00000508312.1_Silent_p.L364L|DDR1_ENST00000446312.1_3'UTR|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.L346L|DDR1_ENST00000418800.2_Silent_p.L346L|DDR1_ENST00000376567.2_Silent_p.L346L|DDR1_ENST00000376570.4_Silent_p.L346L|DDR1_ENST00000513240.1_Silent_p.L346L|DDR1_ENST00000361741.4_Silent_p.L77L|DDR1_ENST00000376569.3_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L346L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	346	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTCGCTTTCTGCAGTGCCG	0.637																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1036-1038)CTG>TTG		discoidin domain receptor family, member 1	Imatinib(DB00619)						42.0	49.0	47.0					6																	30860256		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860256C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1036C>T	6.37:g.30860256C>T						DDR1_uc010jse.2_Silent_p.L346L|DDR1_uc003nrq.2_Silent_p.L346L|DDR1_uc003nrs.2_Silent_p.L346L|DDR1_uc003nrt.2_Silent_p.L346L|DDR1_uc011dms.1_Silent_p.L364L|DDR1_uc003nru.2_Silent_p.L346L|DDR1_uc003nrv.2_Silent_p.L346L|DDR1_uc003nrw.1_Silent_p.L145L|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	p.L346L	NM_013993	NP_054699	Q08345	DDR1_HUMAN			9	1295	+			346			Extracellular (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1036C>T	CCDS34385.1																																																																																				0.637	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		35	33	0	0	0	0	35	33				
DDR1	780	broad.mit.edu	37	6	30862324	30862324	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30862324C>G	ENST00000324771.8	+	13	1937	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	DDR1_ENST00000454612.2_Silent_p.L463L|DDR1_ENST00000452441.1_Silent_p.L463L|DDR1_ENST00000508312.1_Silent_p.L481L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Silent_p.L463L|DDR1_ENST00000418800.2_Silent_p.L463L|DDR1_ENST00000376567.2_Silent_p.L463L|DDR1_ENST00000376570.4_Silent_p.L463L|DDR1_ENST00000513240.1_Silent_p.L463L|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.L463L|DDR1_ENST00000376568.3_Silent_p.L463L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	463					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGGTTCACCTCTCTGTCCCTG	0.632																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1387-1389)CTC>CTG		discoidin domain receptor family, member 1	Imatinib(DB00619)						140.0	124.0	129.0					6																	30862324		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30862324C>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1389C>G	6.37:g.30862324C>G						DDR1_uc010jse.2_Silent_p.L463L|DDR1_uc003nrq.2_Silent_p.L463L|DDR1_uc003nrs.2_Silent_p.L463L|DDR1_uc003nrt.2_Silent_p.L463L|DDR1_uc011dms.1_Silent_p.L481L|DDR1_uc003nru.2_Silent_p.L463L|DDR1_uc003nrv.2_Silent_p.L463L|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	p.L463L	NM_013993	NP_054699	Q08345	DDR1_HUMAN			12	1648	+			463			Cytoplasmic (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1389C>G	CCDS34385.1																																																																																				0.632	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		46	52	0	0	0	0	46	52				
CCHCR1	54535	broad.mit.edu	37	6	31118878	31118878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:31118878G>C	ENST00000376266.5	-	5	678	c.556C>G	c.(556-558)Cac>Gac	p.H186D	CCHCR1_ENST00000396268.3_Missense_Mutation_p.H275D|CCHCR1_ENST00000396263.2_Missense_Mutation_p.H186D|CCHCR1_ENST00000451521.2_Missense_Mutation_p.H239D|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	186					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCTCCTCGTGAGCCTGTGTC	0.572																																						uc003nsr.3		NA																	0				skin(1)	1						c.(556-558)CAC>GAC		coiled-coil alpha-helical rod protein 1 isoform							145.0	163.0	156.0					6																	31118878		1509	2708	4217	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118878G>C	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.556C>G	6.37:g.31118878G>C	ENSP00000365442:p.His186Asp					CCHCR1_uc011dne.1_Missense_Mutation_p.H186D|CCHCR1_uc003nsq.3_Missense_Mutation_p.H239D|CCHCR1_uc003nsp.3_Missense_Mutation_p.H275D|CCHCR1_uc010jsk.1_Missense_Mutation_p.H186D	p.H186D	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			5	679	-			186			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.556C>G	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	g	14.94	2.686737	0.48097	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162	T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81	4.55	4.55	0.56014	.	0.363610	0.26279	N	0.025289	T	0.09379	0.0231	M	0.67953	2.075	0.32534	N	0.534549	D;D;D;D;D	0.71674	0.997;0.997;0.995;0.998;0.998	D;D;P;D;P	0.67548	0.929;0.952;0.897;0.939;0.898	T	0.03739	-1.1008	10	0.36615	T	0.2	-17.372	12.9258	0.58260	0.0:0.0:1.0:0.0	.	186;186;186;239;275	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	D	275;186;186;186;239;150;150;186	ENSP00000379566:H275D;ENSP00000365442:H186D;ENSP00000379561:H186D;ENSP00000401039:H239D;ENSP00000414323:H150D;ENSP00000421393:H150D;ENSP00000390027:H186D	ENSP00000365442:H186D	H	-	1	0	CCHCR1	31226857	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	4.475000	0.60210	2.127000	0.65507	0.274000	0.19336	CAC		0.572	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		41	146	0	0	0	0	41	146				
MOCS1	4337	broad.mit.edu	37	6	39874211	39874211	+	Silent	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:39874211G>T	ENST00000340692.5	-	11	1836	c.1833C>A	c.(1831-1833)gtC>gtA	p.V611V	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Silent_p.V611V|MOCS1_ENST00000308559.7_Silent_p.V595V|MOCS1_ENST00000373195.3_Silent_p.V508V|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	611	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCCTGCTGACAGCCTTGC	0.627																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2		NA																	0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1831-1833)GTC>GTA		molybdenum cofactor synthesis-step 1 protein							100.0	97.0	98.0					6																	39874211		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874211G>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1833C>A	6.37:g.39874211G>T						MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Silent_p.V595V|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Silent_p.V508V	p.V611V	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			10	1971	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		611			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1833C>A																																																																																					0.627	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		72	96	1	0	3.61e-23	4.09e-23	72	96				
CUL7	9820	broad.mit.edu	37	6	43007895	43007895	+	Splice_Site	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43007895C>G	ENST00000265348.3	-	22	4378	c.4293G>C	c.(4291-4293)aaG>aaC	p.K1431N	CUL7_ENST00000535468.1_Splice_Site_p.K1515N			Q14999	CUL7_HUMAN	cullin 7	1431					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCTGCTCACTCTTGTTGTAGA	0.592																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(4291-4293)AAG>AAC		cullin 7							123.0	124.0	124.0					6																	43007895		2203	4300	6503	SO:0001630	splice_region_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43007895C>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4294+1G>C	6.37:g.43007895C>G						CUL7_uc010jyg.2_Missense_Mutation_p.K710N|CUL7_uc011dvb.1_Missense_Mutation_p.K1515N|CUL7_uc010jyh.2_Missense_Mutation_p.K424N|KLC4_uc003otr.1_5'Flank	p.K1431N	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		22	4596	-			1431					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4293G>C	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815907	0.50527	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.74842	-0.88;-0.88	5.71	4.79	0.61399	Cullin, N-terminal (1);Cullin homology (2);	0.448252	0.28082	N	0.016670	T	0.62732	0.2452	L	0.54323	1.7	0.40987	D	0.984827	B;B;P;P	0.36354	0.302;0.351;0.491;0.549	B;B;B;B	0.41036	0.167;0.258;0.258;0.346	T	0.69416	-0.5151	10	0.62326	D	0.03	-12.9209	9.7603	0.40528	0.0:0.6743:0.2541:0.0716	.	1515;1431;1515;1431	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	N	1431;1515	ENSP00000265348:K1431N;ENSP00000438788:K1515N	ENSP00000265348:K1431N	K	-	3	2	CUL7	43115873	0.988000	0.35896	1.000000	0.80357	0.950000	0.60333	0.816000	0.27267	2.698000	0.92095	0.561000	0.74099	AAG		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	Missense_Mutation	23	112	0	0	0	0	23	112				
CUL7	9820	broad.mit.edu	37	6	43008291	43008291	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43008291C>T	ENST00000265348.3	-	21	4085	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	CUL7_ENST00000535468.1_Missense_Mutation_p.E1418K			Q14999	CUL7_HUMAN	cullin 7	1334					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTGTATCCTCCAGCTTCAGG	0.567																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(4000-4002)GAG>AAG		cullin 7							157.0	171.0	166.0					6																	43008291		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43008291C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4000G>A	6.37:g.43008291C>T	ENSP00000265348:p.Glu1334Lys					CUL7_uc010jyg.2_Missense_Mutation_p.E613K|CUL7_uc011dvb.1_Missense_Mutation_p.E1418K|CUL7_uc010jyh.2_Missense_Mutation_p.E327K|KLC4_uc003otr.1_5'Flank	p.E1334K	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		21	4303	-			1334					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4000G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792157	0.70452	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;D	0.81499	-1.48;-1.5	5.49	5.49	0.81192	Cullin, N-terminal (1);Cullin homology (2);	0.622186	0.18099	N	0.151757	T	0.70020	0.3176	L	0.53249	1.67	0.44345	D	0.997239	B;P;P;P	0.40578	0.447;0.503;0.643;0.722	B;B;B;B	0.37833	0.109;0.259;0.259;0.239	T	0.76263	-0.3023	10	0.66056	D	0.02	-12.7693	14.2275	0.65871	0.1493:0.8507:0.0:0.0	.	1418;1334;1418;1334	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	K	1334;1418	ENSP00000265348:E1334K;ENSP00000438788:E1418K	ENSP00000265348:E1334K	E	-	1	0	CUL7	43116269	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.937000	0.75898	2.582000	0.87167	0.462000	0.41574	GAG		0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		57	187	0	0	0	0	57	187				
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:44337822C>G	ENST00000288390.2	+	6	1077	c.730C>G	c.(730-732)Cca>Gca	p.P244A	SPATS1_ENST00000323108.8_Missense_Mutation_p.P244A|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323																																						uc003oxk.2		NA																	0				skin(1)	1						c.(730-732)CCA>GCA		spermatogenesis associated, serine-rich 1							168.0	165.0	166.0					6																	44337822		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337822C>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.730C>G	6.37:g.44337822C>G	ENSP00000424400:p.Pro244Ala					SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.P129A	p.P244A	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1077	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		244					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.730C>G	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961905	0.74016	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.72615	-0.67;-0.67	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000037	T	0.78246	0.4253	M	0.63843	1.955	0.40653	D	0.982056	D	0.89917	1.0	D	0.91635	0.999	T	0.78214	-0.2291	10	0.48119	T	0.1	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	244	Q496A3	SPAS1_HUMAN	A	244	ENSP00000437552:P244A;ENSP00000424400:P244A	ENSP00000424400:P244A	P	+	1	0	SPATS1	44445800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	2.654000	0.90174	0.655000	0.94253	CCA		0.323	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		42	54	0	0	0	0	42	54				
DST	667	broad.mit.edu	37	6	56338733	56338733	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:56338733C>T	ENST00000361203.3	-	88	20979	c.20972G>A	c.(20971-20973)aGa>aAa	p.R6991K	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R5014K|DST_ENST00000370788.2_Missense_Mutation_p.R4905K|DST_ENST00000370754.5_Missense_Mutation_p.R7280K|DST_ENST00000244364.6_Missense_Mutation_p.R4688K|DST_ENST00000446842.2_Missense_Mutation_p.R6776K|DST_ENST00000370769.4_Missense_Mutation_p.R7102K			Q03001	DYST_HUMAN	dystonin	7100					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGCAGCTCTCCTCTTATA	0.373																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(15574-15576)AGA>AAA		dystonin isoform 2							77.0	74.0	75.0					6																	56338733		1868	4116	5984	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56338733C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20972G>A	6.37:g.56338733C>T	ENSP00000354508:p.Arg6991Lys					DST_uc003pcz.3_Missense_Mutation_p.R5014K|DST_uc011dxj.1_Missense_Mutation_p.R5043K|DST_uc011dxk.1_Missense_Mutation_p.R5054K|DST_uc003pcy.3_Missense_Mutation_p.R4688K	p.R5192K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		87	15603	-	Lung NSC(77;0.103)		7100					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15575G>A		.	.	.	.	.	.	.	.	.	.	C	12.85	2.061867	0.36373	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000523943	T;T;T;T;T;T;T	0.50548	0.74;1.37;1.37;0.74;1.37;1.37;1.37	5.58	3.79	0.43588	.	0.118759	0.37304	N	0.002142	T	0.03305	0.0096	N	0.00462	-1.47	0.25667	N	0.985939	B;B;B;B;B	0.20780	0.0;0.048;0.022;0.0;0.0	B;B;B;B;B	0.21360	0.001;0.034;0.034;0.001;0.001	T	0.39941	-0.9589	9	0.02654	T	1	.	5.469	0.16660	0.0:0.6258:0.0:0.3742	.	5014;7102;7280;7100;4688	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	4688;7280;7102;5014;6776;4905;6991;19	ENSP00000244364:R4688K;ENSP00000359790:R7280K;ENSP00000359805:R7102K;ENSP00000400883:R5014K;ENSP00000393645:R6776K;ENSP00000359824:R4905K;ENSP00000354508:R6991K	ENSP00000244364:R4688K	R	-	2	0	DST	56446692	1.000000	0.71417	0.859000	0.33776	0.501000	0.33797	5.675000	0.68123	1.368000	0.46115	0.591000	0.81541	AGA		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	5	0	0	0	0	11	5				
ZUFSP	221302	broad.mit.edu	37	6	116968707	116968707	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:116968707C>G	ENST00000368576.3	-	8	1626	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	461							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGTTCAATATCCATTCAAATA	0.353																																						uc003pxf.1		NA																	0				skin(1)	1						c.(1381-1383)TGG>TGC		zinc finger with UFM1-specific peptidase domain							95.0	98.0	97.0					6																	116968707		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116968707C>G	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1383G>C	6.37:g.116968707C>G	ENSP00000357565:p.Trp461Cys					ZUFSP_uc010kef.1_Missense_Mutation_p.W265C	p.W461C	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	8	1629	-			461					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1383G>C	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628326	0.67015	.	.	ENSG00000153975	ENST00000368576	T	0.32023	1.47	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64639	-0.6360	10	0.52906	T	0.07	-1.8147	18.8982	0.92432	0.0:1.0:0.0:0.0	.	461	Q96AP4	ZUFSP_HUMAN	C	461	ENSP00000357565:W461C	ENSP00000357565:W461C	W	-	3	0	ZUFSP	117075400	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.618000	0.74214	2.464000	0.83262	0.313000	0.20887	TGG		0.353	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		21	54	0	0	0	0	21	54				
PLEKHG1	57480	broad.mit.edu	37	6	151161325	151161325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:151161325C>T	ENST00000358517.2	+	16	3662	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.Q1151*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1151							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGTAGTAAGTCAGCCCAACAA	0.522																																						uc003qny.1		NA																	0				ovary(2)	2						c.(3451-3453)CAG>TAG		pleckstrin homology domain containing, family G							149.0	154.0	152.0					6																	151161325		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161325C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3451C>T	6.37:g.151161325C>T	ENSP00000351318:p.Gln1151*					PLEKHG1_uc011eem.1_Nonsense_Mutation_p.Q1210*	p.Q1151*	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3763	+			1151					Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.3451C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	41	8.711372	0.98925	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	.	.	.	5.66	5.66	0.87406	.	0.101862	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	.	.	.	X	1151	.	ENSP00000351318:Q1151X	Q	+	1	0	PLEKHG1	151203018	1.000000	0.71417	0.961000	0.40146	0.167000	0.22549	5.604000	0.67626	2.675000	0.91044	0.655000	0.94253	CAG		0.522	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			25	114	0	0	0	0	25	114				
SERAC1	84947	broad.mit.edu	37	6	158535902	158535902	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:158535902G>A	ENST00000367104.3	-	15	1734	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	535					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGTGATCCATGATGAGGGACA	0.383																																						uc003qrc.2		NA																	0					0						c.(1603-1605)CAT>TAT		serine active site containing 1							185.0	188.0	187.0					6																	158535902		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158535902G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1603C>T	6.37:g.158535902G>A	ENSP00000356071:p.His535Tyr					SERAC1_uc003qrb.2_Missense_Mutation_p.H263Y	p.H535Y	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	15	1745	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	535					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.1603C>T	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305091	0.60305	.	.	ENSG00000122335	ENST00000367104;ENST00000435180	D;D	0.95171	-3.63;-3.63	6.08	6.08	0.98989	.	0.130517	0.64402	D	0.000001	D	0.90191	0.6934	M	0.64404	1.975	0.80722	D	1	B	0.27765	0.188	B	0.29663	0.105	T	0.68330	-0.5437	10	0.30078	T	0.28	-14.3328	20.6634	0.99662	0.0:0.0:1.0:0.0	.	535	Q96JX3	SRAC1_HUMAN	Y	535;110	ENSP00000356071:H535Y;ENSP00000391168:H110Y	ENSP00000356071:H535Y	H	-	1	0	SERAC1	158455890	1.000000	0.71417	0.094000	0.20943	0.988000	0.76386	6.258000	0.72487	-1.469000	0.01890	-0.256000	0.11100	CAT		0.383	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		62	110	0	0	0	0	62	110				
TTLL2	83887	broad.mit.edu	37	6	167753771	167753771	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:167753771C>T	ENST00000239587.5	+	3	471	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	128	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGGACATCCTCTTTCCGA	0.537																																						uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(382-384)TCC>TTC		tubulin tyrosine ligase-like family, member 2							147.0	126.0	133.0					6																	167753771		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753771C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.383C>T	6.37:g.167753771C>T	ENSP00000239587:p.Ser128Phe					TTLL2_uc011egr.1_RNA	p.S128F	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	471	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	128			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.383C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997935	0.54147	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02890	4.12	3.28	3.28	0.37604	.	0.182532	0.36815	N	0.002387	T	0.05090	0.0136	M	0.81497	2.545	0.09310	N	0.999999	D	0.71674	0.998	D	0.66196	0.942	T	0.31806	-0.9930	10	0.09338	T	0.73	.	13.6028	0.62029	0.0:1.0:0.0:0.0	.	128	Q9BWV7	TTLL2_HUMAN	F	128;55	ENSP00000239587:S128F	ENSP00000239587:S128F	S	+	2	0	TTLL2	167673761	0.728000	0.28080	0.003000	0.11579	0.052000	0.14988	3.538000	0.53597	1.832000	0.53329	0.484000	0.47621	TCC		0.537	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		5	24	0	0	0	0	5	24				
DNAH11	8701	broad.mit.edu	37	7	21847506	21847506	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:21847506A>G	ENST00000409508.3	+	63	10202	c.10171A>G	c.(10171-10173)Att>Gtt	p.I3391V	DNAH11_ENST00000328843.6_Missense_Mutation_p.I3398V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3398	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCAGAGAAGATTCGCTGGGG	0.443									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10192-10194)ATT>GTT		dynein, axonemal, heavy chain 11							65.0	64.0	64.0					7																	21847506		1898	4113	6011	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21847506A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10171A>G	7.37:g.21847506A>G	ENSP00000475939:p.Ile3391Val						p.I3398V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			64	10223	+			3398			Potential.|Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10192A>G		.	.	.	.	.	.	.	.	.	.	A	2.165	-0.391328	0.04932	.	.	ENSG00000105877	ENST00000328843	T	0.72615	-0.67	6.02	1.03	0.20045	Dynein heavy chain, coiled coil stalk (1);	0.641507	0.17794	N	0.161793	T	0.42653	0.1212	.	.	.	0.28805	N	0.898575	B	0.11235	0.004	B	0.14023	0.01	T	0.33523	-0.9865	9	0.02654	T	1	.	10.2346	0.43275	0.61:0.0:0.39:0.0	.	3398	Q96DT5	DYH11_HUMAN	V	3398	ENSP00000330671:I3398V	ENSP00000330671:I3398V	I	+	1	0	DNAH11	21814031	0.602000	0.26916	0.995000	0.50966	0.988000	0.76386	0.564000	0.23563	0.184000	0.20083	-0.250000	0.11733	ATT		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	14	0	0	0	0	15	14				
DFNA5	1687	broad.mit.edu	37	7	24784316	24784316	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:24784316C>A	ENST00000342947.3	-	3	694	c.269G>T	c.(268-270)gGa>gTa	p.G90V	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G90V|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	90					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTCCAGGGTTCCACTCACGTG	0.562																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NA																	0				ovary(1)	1						c.(268-270)GGA>GTA		deafness, autosomal dominant 5 protein isoform							78.0	71.0	73.0					7																	24784316		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24784316C>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.269G>T	7.37:g.24784316C>A	ENSP00000339587:p.Gly90Val					DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.G90V|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.G90V|DFNA5_uc003sxc.2_Missense_Mutation_p.G90V	p.G90V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			3	357	-			90					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.269G>T	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485061	0.44147	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.39229	1.09;1.09	5.7	5.7	0.88788	.	0.048570	0.85682	D	0.000000	T	0.68943	0.3056	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70371	-0.4890	10	0.56958	D	0.05	-31.0575	19.8481	0.96728	0.0:1.0:0.0:0.0	.	90;90	A4FTY0;O60443	.;DFNA5_HUMAN	V	90	ENSP00000339587:G90V;ENSP00000386670:G90V	ENSP00000339587:G90V	G	-	2	0	DFNA5	24750841	0.994000	0.37717	0.244000	0.24202	0.014000	0.08584	3.620000	0.54203	2.705000	0.92388	0.650000	0.86243	GGA		0.562	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		50	48	1	0	7.9e-26	8.96e-26	50	48				
CYCS	54205	broad.mit.edu	37	7	25163649	25163649	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:25163649C>T	ENST00000305786.2	-	2	259	c.90G>A	c.(88-90)ggG>ggA	p.G30G	CYCS_ENST00000409764.1_Silent_p.G30G|CYCS_ENST00000409409.1_Silent_p.G30G	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	30					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443																																						uc003sxl.2		NA																	0				ovary(1)|lung(1)	2						c.(88-90)GGG>GGA		cytochrome c	Melatonin(DB01065)|Minocycline(DB01017)						54.0	56.0	56.0					7																	25163649		2203	4300	6503	SO:0001819	synonymous_variant	54205				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163649C>T	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.90G>A	7.37:g.25163649C>T							p.G30G	NM_018947	NP_061820	P99999	CYC_HUMAN			2	235	-			30					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Silent	SNP	ENST00000305786.2	37	c.90G>A	CCDS5393.1																																																																																				0.443	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			4	86	0	0	0	0	4	86				
POM121L12	285877	broad.mit.edu	37	7	53103452	53103453	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103452_53103453GC>AA	ENST00000408890.4	+	1	104_105	c.88_89GC>AA	c.(88-90)GCg>AAg	p.A30K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	30										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGCCCTGGCGGCTCCCATG	0.693																																						uc003tpz.2		NA																	0					0						c.(88-90)GCG>AAG		POM121 membrane glycoprotein-like 12																																				SO:0001583	missense	285877							g.chr7:53103452_53103453GC>AA		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	Exception_encountered	7.37:g.53103452_53103453delinsAA	ENSP00000386133:p.Ala30Lys						p.A30K	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	104_105	+			30					Q8NDI9	Missense_Mutation	DNP	ENST00000408890.4	37	c.88_89GC>AA	CCDS43584.1																																																																																				0.693	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	42	0	0	0	0	13	42				
POM121L12	285877	broad.mit.edu	37	7	53103987	53103987	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103987G>A	ENST00000408890.4	+	1	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667																																						uc003tpz.2		NA																	0					0						c.(622-624)CGG>CAG		POM121 membrane glycoprotein-like 12							45.0	55.0	52.0					7																	53103987		1990	4134	6124	SO:0001583	missense	285877							g.chr7:53103987G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.623G>A	7.37:g.53103987G>A	ENSP00000386133:p.Arg208Gln						p.R208Q	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	639	+			208					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.623G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727502	0.15439	.	.	ENSG00000221900	ENST00000408890	T	0.11063	2.81	1.84	-2.29	0.06805	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.42749	-0.9433	9	0.22706	T	0.39	.	2.9968	0.06001	0.4771:0.2402:0.2827:0.0	.	208	Q8N7R1	P1L12_HUMAN	Q	208	ENSP00000386133:R208Q	ENSP00000386133:R208Q	R	+	2	0	POM121L12	53071481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.364000	0.01080	-0.707000	0.05022	-0.258000	0.10820	CGG		0.667	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		42	59	0	0	0	0	42	59				
MAGI2	9863	broad.mit.edu	37	7	78636436	78636436	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:78636436G>T	ENST00000354212.4	-	2	641	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R130S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R130S|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	130	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTTGTCACGAATGATTTGC	0.363																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(388-390)CGT>AGT		membrane associated guanylate kinase, WW and PDZ							163.0	140.0	148.0					7																	78636436		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636436G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.388C>A	7.37:g.78636436G>T	ENSP00000346151:p.Arg130Ser					MAGI2_uc003ugy.2_Missense_Mutation_p.R130S	p.R130S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			2	642	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	130			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.388C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879372	0.72294	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.42513	0.97;0.97;0.97	5.29	4.39	0.52855	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	.	.	.	.	T	0.59932	0.2230	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62770	-0.6784	9	0.87932	D	0	.	11.8048	0.52147	0.0:0.0:0.5525:0.4475	.	130;130	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	S	130	ENSP00000405766:R130S;ENSP00000346151:R130S;ENSP00000428389:R130S	ENSP00000346151:R130S	R	-	1	0	MAGI2	78474372	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.029000	0.49712	1.183000	0.42943	0.637000	0.83480	CGT		0.363	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		27	34	1	0	4.88e-14	5.41e-14	27	34				
INTS10	55174	broad.mit.edu	37	8	19681434	19681434	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:19681434A>G	ENST00000397977.3	+	7	1113	c.715A>G	c.(715-717)Aag>Gag	p.K239E		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	239					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAGCTCTCAGAAGTACATAAT	0.398																																						uc003wzj.2		NA																	0				ovary(1)	1						c.(715-717)AAG>GAG		integrator complex subunit 10							120.0	112.0	115.0					8																	19681434		1848	4088	5936	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19681434A>G	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.715A>G	8.37:g.19681434A>G	ENSP00000381064:p.Lys239Glu						p.K239E	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	7	846	+			239					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.715A>G	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515956	0.85495	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.6	5.6	0.85130	.	0.050528	0.85682	D	0.000000	T	0.41880	0.1178	N	0.22421	0.69	0.42686	D	0.993562	P	0.41673	0.759	B	0.40410	0.328	T	0.40515	-0.9559	9	0.42905	T	0.14	-32.2151	14.6101	0.68510	1.0:0.0:0.0:0.0	.	239	Q9NVR2	INT10_HUMAN	E	239	.	ENSP00000381064:K239E	K	+	1	0	INTS10	19725714	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.336000	0.72954	2.136000	0.66102	0.533000	0.62120	AAG		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		24	50	0	0	0	0	24	50				
TRPA1	8989	broad.mit.edu	37	8	72958791	72958791	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958791G>T	ENST00000262209.4	-	17	2225	c.2018C>A	c.(2017-2019)aCa>aAa	p.T673K	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	673					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2017-2019)ACA>AAA		ankyrin-like protein 1	Menthol(DB00825)						140.0	155.0	150.0					8																	72958791		2203	4299	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72958791G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2018C>A	8.37:g.72958791G>T	ENSP00000262209:p.Thr673Lys					uc011lff.1_Intron|uc003xyy.2_Intron	p.T673K	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2193	-			673			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2018C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276972	0.05679	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.76060	-0.99;-0.99	4.05	-8.09	0.01090	.	0.693203	0.12788	N	0.439122	T	0.42653	0.1212	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44817	-0.9303	10	0.12430	T	0.62	-0.4823	0.2474	0.00200	0.2515:0.2367:0.254:0.2579	.	673	O75762	TRPA1_HUMAN	K	525;673	ENSP00000428151:T525K;ENSP00000262209:T673K	ENSP00000262209:T673K	T	-	2	0	TRPA1	73121345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.989000	0.03736	-1.769000	0.01297	-0.314000	0.08810	ACA		0.269	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		19	45	1	0	3.88e-16	4.35e-16	19	45				
TRPA1	8989	broad.mit.edu	37	8	72958807	72958807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958807C>G	ENST00000262209.4	-	17	2209	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	668					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGGTGAATTCTAATGGACAT	0.294																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2002-2004)GAA>CAA		ankyrin-like protein 1	Menthol(DB00825)						139.0	151.0	147.0					8																	72958807		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72958807C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2002G>C	8.37:g.72958807C>G	ENSP00000262209:p.Glu668Gln					uc011lff.1_Intron|uc003xyy.2_Intron	p.E668Q	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2177	-			668			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2002G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414010	0.01145	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77229	-1.08;-1.08	4.89	0.677	0.17964	.	0.647127	0.15697	N	0.249102	T	0.52533	0.1740	N	0.17723	0.515	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.23583	-1.0184	10	0.11485	T	0.65	-4.464	1.0558	0.01590	0.2397:0.3831:0.1166:0.2606	.	668	O75762	TRPA1_HUMAN	Q	520;668	ENSP00000428151:E520Q;ENSP00000262209:E668Q	ENSP00000262209:E668Q	E	-	1	0	TRPA1	73121361	0.356000	0.24930	0.059000	0.19551	0.121000	0.20230	0.244000	0.18124	-0.102000	0.12197	0.555000	0.69702	GAA		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		11	38	0	0	0	0	11	38				
FZD6	8323	broad.mit.edu	37	8	104343656	104343656	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:104343656C>G	ENST00000358755.4	+	7	2357	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	FZD6_ENST00000540287.1_Silent_p.L375L|FZD6_ENST00000523739.1_Silent_p.L648L|FZD6_ENST00000522566.1_Silent_p.L680L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	680					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCA	0.448																																						uc003ylh.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2038-2040)CTC>CTG		frizzled 6 isoform a precursor							139.0	134.0	136.0					8																	104343656		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104343656C>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2040C>G	8.37:g.104343656C>G						FZD6_uc003ylj.2_Silent_p.L680L|FZD6_uc011lhn.1_Silent_p.L646L|FZD6_uc011lho.1_Silent_p.L375L|FZD6_uc011lhp.1_Silent_p.L625L	p.L680L	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		7	2324	+			680			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.2040C>G	CCDS6298.1																																																																																				0.448	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		34	105	0	0	0	0	34	105				
TRPS1	7227	broad.mit.edu	37	8	116631735	116631735	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:116631735G>C	ENST00000220888.5	-	2	710	c.551C>G	c.(550-552)tCa>tGa	p.S184*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.S184*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.S197*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.S188*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.S138*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	184					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGTTTTTTGAGGCCACTGA	0.483									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(550-552)TCA>TGA		zinc finger transcription factor TRPS1							122.0	119.0	120.0					8																	116631735		1944	4142	6086	SO:0001587	stop_gained	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631735G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.551C>G	8.37:g.116631735G>C	ENSP00000220888:p.Ser184*					TRPS1_uc011lhy.1_Nonsense_Mutation_p.S188*|TRPS1_uc003yny.2_Nonsense_Mutation_p.S197*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.S184*	p.S184*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1010	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		184					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37	c.551C>G		.	.	.	.	.	.	.	.	.	.	G	36	5.599107	0.96614	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	.	.	.	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.468	19.5324	0.95234	0.0:0.0:1.0:0.0	.	.	.	.	X	197;184;138;188;184	.	ENSP00000220888:S184X	S	-	2	0	TRPS1	116700910	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.375000	0.66173	2.619000	0.88677	0.460000	0.39030	TCA		0.483	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		21	139	0	0	0	0	21	139				
PHF20L1	51105	broad.mit.edu	37	8	133837598	133837598	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:133837598A>G	ENST00000395386.2	+	14	2025	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E	PHF20L1_ENST00000220847.7_5'UTR|CTC-137K3.1_ENST00000602328.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K551E	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	576	Lys-rich.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			aaaaaagaaaaagaaATCTAA	0.303																																						uc003ytt.2		NA																	0				ovary(2)	2						c.(1726-1728)AAG>GAG		PHD finger protein 20-like 1 isoform 1							7.0	7.0	7.0					8																	133837598		1864	4058	5922	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133837598A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1726A>G	8.37:g.133837598A>G	ENSP00000378784:p.Lys576Glu					PHF20L1_uc011lja.1_Missense_Mutation_p.K550E|PHF20L1_uc003ytu.1_RNA	p.K576E	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		14	2051	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		576			Lys-rich.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1726A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151841	0.78001	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.42131	0.99;0.98	5.66	5.66	0.87406	.	1.128880	0.06468	N	0.730701	T	0.61350	0.2340	M	0.62723	1.935	0.80722	D	1	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.34477	-0.9827	10	0.16420	T	0.52	-24.9283	12.2779	0.54747	1.0:0.0:0.0:0.0	.	551;576	F8W9L8;A8MW92	.;P20L1_HUMAN	E	576;551	ENSP00000378784:K576E;ENSP00000378788:K551E	ENSP00000378784:K576E	K	+	1	0	PHF20L1	133906780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	2.156000	0.67533	0.533000	0.62120	AAG		0.303	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		7	0	0	0	0	0	7	0				
PLEC	5339	broad.mit.edu	37	8	144995066	144995066	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995066C>G	ENST00000322810.4	-	32	9503	c.9334G>C	c.(9334-9336)Gag>Cag	p.E3112Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E2953Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2998Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2961Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2943Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2979Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2975Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3002Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2975Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3112	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGGCCCTCAAAGCAAAGC	0.647																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9334-9336)GAG>CAG		plectin isoform 1							16.0	19.0	18.0					8																	144995066		2053	4155	6208	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995066C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9334G>C	8.37:g.144995066C>G	ENSP00000323856:p.Glu3112Gln					PLEC_uc003zab.1_Missense_Mutation_p.E2975Q|PLEC_uc003zac.1_Missense_Mutation_p.E2979Q|PLEC_uc003zad.2_Missense_Mutation_p.E2975Q|PLEC_uc003zae.1_Missense_Mutation_p.E2943Q|PLEC_uc003zag.1_Missense_Mutation_p.E2953Q|PLEC_uc003zah.2_Missense_Mutation_p.E2961Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3002Q	p.E3112Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9504	-			3112			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9334G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588818	0.13812	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.82	0.559	0.17272	.	0.685368	0.13025	N	0.419762	T	0.59487	0.2197	L	0.43152	1.355	0.31726	N	0.637678	B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.0;0.001;0.003;0.001	B;B;B;B;B;B;B;B	0.13407	0.004;0.004;0.004;0.004;0.003;0.009;0.009;0.009	T	0.55611	-0.8114	10	0.31617	T	0.26	.	16.9069	0.86131	0.0:0.4547:0.5453:0.0	.	3002;2961;2953;3112;2943;2975;2979;2975	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2975;2979;2975;2943;3112;2953;2961;3002;2998	ENSP00000344848:E2975Q;ENSP00000350277:E2979Q;ENSP00000346602:E2975Q;ENSP00000381756:E2943Q;ENSP00000323856:E3112Q;ENSP00000347044:E2953Q;ENSP00000348702:E2961Q;ENSP00000388180:E3002Q;ENSP00000434583:E2998Q	ENSP00000323856:E3112Q	E	-	1	0	PLEC	145067054	0.140000	0.22579	0.955000	0.39395	0.401000	0.30781	0.381000	0.20619	-0.133000	0.11537	0.448000	0.29417	GAG		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	35	0	0	0	0	13	35				
PLEC	5339	broad.mit.edu	37	8	144995127	144995127	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995127C>G	ENST00000322810.4	-	32	9442	c.9273G>C	c.(9271-9273)aaG>aaC	p.K3091N	PLEC_ENST00000354958.2_Missense_Mutation_p.K2932N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2977N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2940N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2922N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2958N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2954N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2981N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2954N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3091	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTGATGATCTTCTCCACTG	0.622																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9271-9273)AAG>AAC		plectin isoform 1							34.0	38.0	37.0					8																	144995127		2098	4210	6308	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995127C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9273G>C	8.37:g.144995127C>G	ENSP00000323856:p.Lys3091Asn					PLEC_uc003zab.1_Missense_Mutation_p.K2954N|PLEC_uc003zac.1_Missense_Mutation_p.K2958N|PLEC_uc003zad.2_Missense_Mutation_p.K2954N|PLEC_uc003zae.1_Missense_Mutation_p.K2922N|PLEC_uc003zag.1_Missense_Mutation_p.K2932N|PLEC_uc003zah.2_Missense_Mutation_p.K2940N|PLEC_uc003zaj.2_Missense_Mutation_p.K2981N	p.K3091N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9443	-			3091			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9273G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023221	0.19433	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77750	-1.09;-1.09;-1.12;-1.12;-1.1;-1.09;-1.09;-1.09;-1.09	4.82	2.94	0.34122	.	0.000000	0.64402	U	0.000004	D	0.85758	0.5771	M	0.77616	2.38	0.48901	D	0.999727	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	D	0.84332	0.0522	10	0.33940	T	0.23	.	11.4105	0.49923	0.0:0.8334:0.0:0.1666	.	2981;2940;2932;3091;2922;2954;2958;2954	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2954;2958;2954;2922;3091;2932;2940;2981;2977	ENSP00000344848:K2954N;ENSP00000350277:K2958N;ENSP00000346602:K2954N;ENSP00000381756:K2922N;ENSP00000323856:K3091N;ENSP00000347044:K2932N;ENSP00000348702:K2940N;ENSP00000388180:K2981N;ENSP00000434583:K2977N	ENSP00000323856:K3091N	K	-	3	2	PLEC	145067115	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	0.977000	0.29475	1.139000	0.42245	0.448000	0.29417	AAG		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		17	53	0	0	0	0	17	53				
PLEC	5339	broad.mit.edu	37	8	144995409	144995409	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995409C>T	ENST00000322810.4	-	32	9160	c.8991G>A	c.(8989-8991)gaG>gaA	p.E2997E	PLEC_ENST00000354958.2_Silent_p.E2838E|PLEC_ENST00000527096.1_Silent_p.E2883E|PLEC_ENST00000356346.3_Silent_p.E2846E|PLEC_ENST00000398774.2_Silent_p.E2828E|PLEC_ENST00000357649.2_Silent_p.E2864E|PLEC_ENST00000354589.3_Silent_p.E2860E|PLEC_ENST00000436759.2_Silent_p.E2887E|PLEC_ENST00000345136.3_Silent_p.E2860E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2997	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGTGAGGTTCTCGTGCGTGT	0.657																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8989-8991)GAG>GAA		plectin isoform 1							80.0	90.0	87.0					8																	144995409		2152	4260	6412	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995409C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8991G>A	8.37:g.144995409C>T						PLEC_uc003zab.1_Silent_p.E2860E|PLEC_uc003zac.1_Silent_p.E2864E|PLEC_uc003zad.2_Silent_p.E2860E|PLEC_uc003zae.1_Silent_p.E2828E|PLEC_uc003zag.1_Silent_p.E2838E|PLEC_uc003zah.2_Silent_p.E2846E|PLEC_uc003zaj.2_Silent_p.E2887E	p.E2997E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9161	-			2997			Globular 2.|Plectin 5.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8991G>A	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		31	128	0	0	0	0	31	128				
PLEC	5339	broad.mit.edu	37	8	144996152	144996152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996152C>G	ENST00000322810.4	-	32	8417	c.8248G>C	c.(8248-8250)Gag>Cag	p.E2750Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E2591Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2636Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2599Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2581Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2617Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2613Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2640Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2613Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2750	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCTCCTCTGAGTGCGCC	0.687																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8248-8250)GAG>CAG		plectin isoform 1							12.0	16.0	15.0					8																	144996152		2041	4087	6128	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996152C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8248G>C	8.37:g.144996152C>G	ENSP00000323856:p.Glu2750Gln					PLEC_uc003zab.1_Missense_Mutation_p.E2613Q|PLEC_uc003zac.1_Missense_Mutation_p.E2617Q|PLEC_uc003zad.2_Missense_Mutation_p.E2613Q|PLEC_uc003zae.1_Missense_Mutation_p.E2581Q|PLEC_uc003zag.1_Missense_Mutation_p.E2591Q|PLEC_uc003zah.2_Missense_Mutation_p.E2599Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2640Q	p.E2750Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8418	-			2750			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8248G>C	CCDS43772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.664|0.664	-0.804528|-0.804528	0.02819|0.02819	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;T;T;T;T;T;T;T|.	0.77098|.	-1.03;-1.04;-1.07;-1.07;-1.05;-1.03;-1.03;-1.03;-1.03|.	3.76|3.76	1.65|1.65	0.23941|0.23941	.|.	0.201698|.	0.29119|.	U|.	0.013088|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.12013|.	0.005;0.005;0.005;0.003;0.005;0.005;0.005;0.005|.	B;B;B;B;B;B;B;B|.	0.10450|.	0.005;0.005;0.005;0.002;0.005;0.005;0.005;0.005|.	T|T	0.21999|0.21999	-1.0229|-1.0229	10|5	0.48119|.	T|.	0.1|.	.|.	7.5171|7.5171	0.27606|0.27606	0.0:0.5867:0.3192:0.0941|0.0:0.5867:0.3192:0.0941	.|.	2640;2599;2591;2750;2581;2613;2617;2613|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	Q|H	2613;2617;2613;2581;2750;2591;2599;2640;2636|182	ENSP00000344848:E2613Q;ENSP00000350277:E2617Q;ENSP00000346602:E2613Q;ENSP00000381756:E2581Q;ENSP00000323856:E2750Q;ENSP00000347044:E2591Q;ENSP00000348702:E2599Q;ENSP00000388180:E2640Q;ENSP00000434583:E2636Q|.	ENSP00000323856:E2750Q|.	E|Q	-|-	1|3	0|2	PLEC|PLEC	145068140|145068140	0.045000|0.045000	0.20229|0.20229	0.082000|0.082000	0.20525|0.20525	0.126000|0.126000	0.20510|0.20510	0.872000|0.872000	0.28037|0.28037	0.860000|0.860000	0.35481|0.35481	0.448000|0.448000	0.29417|0.29417	GAG|CAG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	45	0	0	0	0	4	45				
PLEC	5339	broad.mit.edu	37	8	144996219	144996219	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996219C>T	ENST00000322810.4	-	32	8350	c.8181G>A	c.(8179-8181)gaG>gaA	p.E2727E	PLEC_ENST00000354958.2_Silent_p.E2568E|PLEC_ENST00000527096.1_Silent_p.E2613E|PLEC_ENST00000356346.3_Silent_p.E2576E|PLEC_ENST00000398774.2_Silent_p.E2558E|PLEC_ENST00000357649.2_Silent_p.E2594E|PLEC_ENST00000354589.3_Silent_p.E2590E|PLEC_ENST00000436759.2_Silent_p.E2617E|PLEC_ENST00000345136.3_Silent_p.E2590E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2727	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCTGGTTCTCCTCAGCCA	0.701																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8179-8181)GAG>GAA		plectin isoform 1							6.0	8.0	8.0					8																	144996219		1935	3891	5826	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996219C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8181G>A	8.37:g.144996219C>T						PLEC_uc003zab.1_Silent_p.E2590E|PLEC_uc003zac.1_Silent_p.E2594E|PLEC_uc003zad.2_Silent_p.E2590E|PLEC_uc003zae.1_Silent_p.E2558E|PLEC_uc003zag.1_Silent_p.E2568E|PLEC_uc003zah.2_Silent_p.E2576E|PLEC_uc003zaj.2_Silent_p.E2617E	p.E2727E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8351	-			2727			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8181G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588329	0.13812	.	.	ENSG00000178209	ENST00000527303	.	.	.	3.76	1.88	0.25563	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46386	-0.9195	4	.	.	.	.	7.7685	0.28993	0.0:0.7221:0.0:0.2779	.	.	.	.	K	160	.	.	R	-	2	0	PLEC	145068207	0.971000	0.33674	0.999000	0.59377	0.993000	0.82548	0.141000	0.16076	0.353000	0.24079	0.448000	0.29417	AGA		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	27	0	0	0	0	4	27				
PLEC	5339	broad.mit.edu	37	8	144996395	144996395	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996395C>T	ENST00000322810.4	-	32	8174	c.8005G>A	c.(8005-8007)Gag>Aag	p.E2669K	PLEC_ENST00000354958.2_Missense_Mutation_p.E2510K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2559K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8005-8007)GAG>AAG		plectin isoform 1							10.0	11.0	11.0					8																	144996395		2188	4285	6473	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996395C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8005G>A	8.37:g.144996395C>T	ENSP00000323856:p.Glu2669Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2532K|PLEC_uc003zac.1_Missense_Mutation_p.E2536K|PLEC_uc003zad.2_Missense_Mutation_p.E2532K|PLEC_uc003zae.1_Missense_Mutation_p.E2500K|PLEC_uc003zag.1_Missense_Mutation_p.E2510K|PLEC_uc003zah.2_Missense_Mutation_p.E2518K|PLEC_uc003zaj.2_Missense_Mutation_p.E2559K	p.E2669K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8175	-			2669			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8005G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	14.41	2.528260	0.44969	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;D;D;T;T;T;T;T	0.81499	-1.47;-1.47;-1.5;-1.5;-1.48;-1.47;-1.46;-1.47;-1.47	4.38	4.38	0.52667	.	0.274300	0.28176	U	0.016314	T	0.67496	0.2899	N	0.22421	0.69	0.35153	D	0.769938	P;P;P;P;P;P;P;P	0.38504	0.634;0.493;0.493;0.501;0.493;0.493;0.634;0.634	B;B;B;B;B;B;B;B	0.28011	0.085;0.085;0.085;0.039;0.085;0.085;0.085;0.085	T	0.79208	-0.1898	10	0.62326	D	0.03	.	16.7261	0.85422	0.0:1.0:0.0:0.0	.	2559;2518;2510;2669;2500;2532;2536;2532	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2532;2536;2532;2500;2669;2510;2518;2559;2555	ENSP00000344848:E2532K;ENSP00000350277:E2536K;ENSP00000346602:E2532K;ENSP00000381756:E2500K;ENSP00000323856:E2669K;ENSP00000347044:E2510K;ENSP00000348702:E2518K;ENSP00000388180:E2559K;ENSP00000434583:E2555K	ENSP00000323856:E2669K	E	-	1	0	PLEC	145068383	0.963000	0.33076	0.966000	0.40874	0.971000	0.66376	5.586000	0.67503	2.289000	0.77006	0.443000	0.29094	GAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	8	0	0	0	0	9	8				
SLC39A4	55630	broad.mit.edu	37	8	145638738	145638738	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:145638738C>T	ENST00000301305.3	-	10	1615	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	SLC39A4_ENST00000276833.5_Missense_Mutation_p.D479N|SLC39A4_ENST00000531013.1_5'UTR	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	504					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGCACGGCGTCGCCCAGAGTG	0.697																																						uc003zcq.2		NA																	0					0						c.(1510-1512)GAC>AAC		solute carrier family 39 (zinc transporter),							14.0	18.0	16.0					8																	145638738		2190	4288	6478	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638738C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1510G>A	8.37:g.145638738C>T	ENSP00000301305:p.Asp504Asn					SLC39A4_uc003zcm.1_Missense_Mutation_p.D6N|SLC39A4_uc003zcn.2_Missense_Mutation_p.D6N|SLC39A4_uc003zco.2_Missense_Mutation_p.D228N|SLC39A4_uc003zcp.2_Missense_Mutation_p.D479N	p.D504N	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		10	1610	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		504			Cytoplasmic (Potential).		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1510G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219711	0.95139	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.52754	0.65;0.65	4.6	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65763	-0.6089	10	0.87932	D	0	-33.7425	10.5373	0.45011	0.0:0.9025:0.0:0.0975	.	504;479;504	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	N	479;504	ENSP00000276833:D479N;ENSP00000301305:D504N	ENSP00000276833:D479N	D	-	1	0	SLC39A4	145609546	1.000000	0.71417	0.390000	0.26220	0.695000	0.40330	4.583000	0.60964	0.942000	0.37525	0.456000	0.33151	GAC		0.697	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			8	27	0	0	0	0	8	27				
DDX58	23586	broad.mit.edu	37	9	32493813	32493813	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32493813G>A	ENST00000379883.2	-	3	526	c.369C>T	c.(367-369)atC>atT	p.I123I	DDX58_ENST00000379882.1_Silent_p.I78I|DDX58_ENST00000542096.1_Silent_p.I52I|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	123	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GATCAGAAATGATATCGGTTG	0.274																																						uc003zra.2		NA																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(367-369)ATC>ATT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							55.0	60.0	59.0					9																	32493813		2200	4295	6495	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32493813G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.369C>T	9.37:g.32493813G>A						DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.I78I|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_Silent_p.I52I	p.I123I	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	3	527	-			123			CARD 2.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.369C>T	CCDS6526.1																																																																																				0.274	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		26	23	0	0	0	0	26	23				
GRIN3A	116443	broad.mit.edu	37	9	104499666	104499666	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:104499666A>G	ENST00000361820.3	-	1	1196	c.596T>C	c.(595-597)tTc>tCc	p.F199S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	199					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCTCTGGGGGAAGGCGAGCAG	0.587																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(595-597)TTC>TCC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						86.0	79.0	82.0					9																	104499666		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499666A>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.596T>C	9.37:g.104499666A>G	ENSP00000355155:p.Phe199Ser					GRIN3A_uc004bbq.1_Missense_Mutation_p.F199S	p.F199S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1197	-		Acute lymphoblastic leukemia(62;0.0568)	199			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.596T>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395486	0.62066	.	.	ENSG00000198785	ENST00000361820	D	0.85702	-2.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87593	0.2492	10	0.17832	T	0.49	.	15.6853	0.77405	1.0:0.0:0.0:0.0	.	199	Q8TCU5	NMD3A_HUMAN	S	199	ENSP00000355155:F199S	ENSP00000355155:F199S	F	-	2	0	GRIN3A	103539487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.765000	0.91724	2.098000	0.63641	0.533000	0.62120	TTC		0.587	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			3	100	0	0	0	0	3	100				
GBGT1	26301	broad.mit.edu	37	9	136030585	136030585	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:136030585G>A	ENST00000372040.3	-	6	650	c.339C>T	c.(337-339)gtC>gtT	p.V113V	GBGT1_ENST00000372043.3_Silent_p.V113V|GBGT1_ENST00000540636.1_Silent_p.V96V|RALGDS_ENST00000542690.1_Missense_Mutation_p.H126Y|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.H126Y	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	113					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CAAACACCGTGACCCCAATGG	0.587																																						uc011mcw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(376-378)CAC>TAC		ral guanine nucleotide dissociation stimulator							91.0	85.0	87.0					9																	136030585		2203	4300	6503	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030585G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.339C>T	9.37:g.136030585G>A						GBGT1_uc004ccx.2_Silent_p.V66V|GBGT1_uc010nab.2_Missense_Mutation_p.H126Y|GBGT1_uc011mcx.1_Silent_p.V96V|GBGT1_uc004ccw.2_Silent_p.V113V|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.V113V	p.H126Y	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	657	-			Error:Variant_position_missing_in_Q12967_after_alignment					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.376C>T	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	6.328	0.428556	0.11987	.	.	ENSG00000160271;ENSG00000148288	ENST00000542690;ENST00000372038	T;T	0.36157	1.86;1.27	4.69	1.73	0.24493	.	.	.	.	.	T	0.28067	0.0692	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07121	-1.0789	8	0.87932	D	0	-4.2161	6.948	0.24530	0.1669:0.4542:0.3789:0.0	.	126	F5H6M6	.	Y	126	ENSP00000437518:H126Y;ENSP00000361108:H126Y	ENSP00000361108:H126Y	H	-	1	0	GBGT1;RALGDS	135020406	0.933000	0.31639	0.010000	0.14722	0.022000	0.10575	0.895000	0.28363	0.058000	0.16222	-0.305000	0.09177	CAC		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		35	56	0	0	0	0	35	56				
NOTCH1	4851	broad.mit.edu	37	9	139400138	139400138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139400138C>T	ENST00000277541.6	-	25	4285	c.4210G>A	c.(4210-4212)Gag>Aag	p.E1404K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1404	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGTGGGCTCACAGGTCCCC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(4210-4212)GAG>AAG		notch1 preproprotein							17.0	23.0	21.0					9																	139400138		1902	4099	6001	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400138C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4210G>A	9.37:g.139400138C>T	ENSP00000277541:p.Glu1404Lys	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.E634K	p.E1404K	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4210	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1404			Extracellular (Potential).|EGF-like 36.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4210G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	9.320	1.057913	0.19987	.	.	ENSG00000148400	ENST00000277541	T	0.55052	0.54	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.188009	0.44097	U	0.000482	T	0.31009	0.0783	N	0.16016	0.355	0.58432	D	0.999992	B	0.12013	0.005	B	0.15052	0.012	T	0.12477	-1.0546	10	0.06757	T	0.87	.	12.2275	0.54468	0.0:0.8282:0.1718:0.0	.	1404	P46531	NOTC1_HUMAN	K	1404	ENSP00000277541:E1404K	ENSP00000277541:E1404K	E	-	1	0	NOTCH1	138519959	0.996000	0.38824	0.904000	0.35570	0.063000	0.16089	2.242000	0.43106	2.062000	0.61559	0.643000	0.83706	GAG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		35	49	0	0	0	0	35	49				
ABCA2	20	broad.mit.edu	37	9	139910605	139910605	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139910605G>C	ENST00000371605.3	-	21	3270	c.3123C>G	c.(3121-3123)ttC>ttG	p.F1041L	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.F1042L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F1042L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1041	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTTGGAGGGAACAGGCCGG	0.652																																						uc011mem.1		NA																	0					0						c.(3121-3123)TTC>TTG		ATP-binding cassette, sub-family A, member 2							66.0	73.0	71.0					9																	139910605		2119	4209	6328	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910605G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3123C>G	9.37:g.139910605G>C	ENSP00000360666:p.Phe1041Leu					ABCA2_uc011mel.1_Missense_Mutation_p.F1042L|ABCA2_uc004ckl.1_Missense_Mutation_p.F972L|ABCA2_uc004ckm.1_Missense_Mutation_p.F1072L|ABCA2_uc004ckn.1_RNA	p.F1041L	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	21	3271	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1041			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3123C>G		.	.	.	.	.	.	.	.	.	.	g	9.919	1.211668	0.22289	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99811	-6.87;-6.87;-6.87	4.19	4.19	0.49359	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.98330	0.9446	N	0.00392	-1.555	0.49213	D	0.99976	D;P	0.89917	1.0;0.925	D;P	0.83275	0.996;0.831	D	0.96516	0.9382	10	0.36615	T	0.2	.	10.2491	0.43358	0.0933:0.0:0.9067:0.0	.	1041;1072	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	1042;1041;1072;1042	ENSP00000265662:F1042L;ENSP00000360666:F1041L;ENSP00000344155:F1042L	ENSP00000265662:F1042L	F	-	3	2	ABCA2	139030426	1.000000	0.71417	0.999000	0.59377	0.391000	0.30476	3.432000	0.52824	1.876000	0.54355	0.306000	0.20318	TTC		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		44	63	0	0	0	0	44	63				
BEND2	139105	broad.mit.edu	37	X	18183158	18183158	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:18183158C>G	ENST00000380033.4	-	14	2503	c.2371G>C	c.(2371-2373)Gat>Cat	p.D791H		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	791										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTCGGGATCTCCTGGCTTT	0.478																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2371-2373)GAT>CAT		BEN domain containing 2							129.0	121.0	123.0					X																	18183158		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183158C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2371G>C	X.37:g.18183158C>G	ENSP00000369372:p.Asp791His						p.D791H	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			14	2525	-			791					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2371G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478004	0.44044	.	.	ENSG00000177324	ENST00000380033	T	0.28069	1.63	5.07	2.23	0.28157	.	13.161900	0.00166	N	0.000000	T	0.34483	0.0899	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.26710	-1.0095	10	0.72032	D	0.01	-17.0356	4.5955	0.12327	0.0:0.6094:0.1779:0.2127	.	791	Q8NDZ0	BEND2_HUMAN	H	791	ENSP00000369372:D791H	ENSP00000369372:D791H	D	-	1	0	BEND2	18093079	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.526000	0.22971	0.100000	0.17581	0.544000	0.68410	GAT		0.478	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		64	43	0	0	0	0	64	43				
ZNF182	7569	broad.mit.edu	37	X	47837109	47837109	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:47837109T>C	ENST00000396965.1	-	7	727	c.377A>G	c.(376-378)aAg>aGg	p.K126R	ZNF182_ENST00000305127.6_Missense_Mutation_p.K126R|ZNF182_ENST00000376943.3_Missense_Mutation_p.K107R	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	126					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(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AATTGTTTTCTTGTCAGAAAA	0.383																																						uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(376-378)AAG>AGG		zinc finger protein 21 isoform 1							86.0	73.0	78.0					X																	47837109		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47837109T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.377A>G	X.37:g.47837109T>C	ENSP00000380165:p.Lys126Arg					ZNF182_uc004dis.2_Missense_Mutation_p.K107R|ZNF182_uc004dit.2_Missense_Mutation_p.K126R|ZNF182_uc011mlu.1_Missense_Mutation_p.K106R	p.K126R	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	723	-			126					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.377A>G	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	0.930	-0.713037	0.03206	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07908	3.15;3.15;3.15	3.95	2.76	0.32466	.	.	.	.	.	T	0.05547	0.0146	L	0.28192	0.835	0.09310	N	1	B;B;B	0.16802	0.019;0.001;0.0	B;B;B	0.20184	0.028;0.001;0.0	T	0.41910	-0.9482	9	0.27785	T	0.31	.	3.282	0.06918	0.0:0.1368:0.2355:0.6276	.	106;107;126	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	R	107;126;126	ENSP00000366142:K107R;ENSP00000380165:K126R;ENSP00000306351:K126R	ENSP00000306351:K126R	K	-	2	0	ZNF182	47722053	0.681000	0.27614	0.005000	0.12908	0.301000	0.27625	1.891000	0.39738	0.661000	0.30985	0.425000	0.28330	AAG		0.383	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		14	8	0	0	0	0	14	8				
HUWE1	10075	broad.mit.edu	37	X	53560308	53560308	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53560308C>A	ENST00000342160.3	-	83	13544	c.13087G>T	c.(13087-13089)Gct>Tct	p.A4363S	HUWE1_ENST00000262854.6_Missense_Mutation_p.A4363S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4363	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGGATAGCCAACAGTAGC	0.512																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(13087-13089)GCT>TCT		HECT, UBA and WWE domain containing 1							46.0	42.0	44.0					X																	53560308		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560308C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13087G>T	X.37:g.53560308C>A	ENSP00000340648:p.Ala4363Ser					HUWE1_uc004dsn.2_Missense_Mutation_p.A3171S	p.A4363S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			84	13489	-			4363			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13087G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.363595|2.363595	0.41902|0.41902	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.74209|.	-0.82;-0.82|.	5.3|5.3	5.3|5.3	0.74995|0.74995	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83626|0.83626	0.5295|0.5295	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	P;P|.	0.51653|.	0.947;0.935|.	D;D|.	0.78314|.	0.991;0.985|.	D|D	0.86605|0.86605	0.1869|0.1869	10|5	0.87932|.	D|.	0|.	.|.	16.9322|16.9322	0.86193|0.86193	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4363;4347|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	S|V	4363|3396;1185	ENSP00000340648:A4363S;ENSP00000262854:A4363S|.	ENSP00000262854:A4363S|.	A|G	-|-	1|2	0|0	HUWE1|HUWE1	53577033|53577033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.096000|7.096000	0.76960|0.76960	2.347000|2.347000	0.79759|0.79759	0.513000|0.513000	0.50165|0.50165	GCT|GGC		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		8	5	1	0	0.000157383	0.000166481	8	5				
HUWE1	10075	broad.mit.edu	37	X	53589155	53589155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53589155C>T	ENST00000342160.3	-	53	7712	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2419K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2419	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGTCCTCTTCCTGAGTG	0.498																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(7255-7257)GAG>AAG		HECT, UBA and WWE domain containing 1							164.0	100.0	121.0					X																	53589155		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53589155C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7255G>A	X.37:g.53589155C>T	ENSP00000340648:p.Glu2419Lys					HUWE1_uc004dsn.2_Missense_Mutation_p.E1243K	p.E2419K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			54	7657	-			2419			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7255G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142437|2.142437	0.37825|0.37825	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39229|.	1.09;1.09|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.061927|.	0.64402|.	D|.	0.000006|.	T|T	0.51329|0.51329	0.1668|0.1668	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999997|0.999997	P;D|.	0.56035|.	0.956;0.974|.	P;D|.	0.67725|.	0.899;0.953|.	T|T	0.48103|0.48103	-0.9064|-0.9064	10|5	0.72032|.	D|.	0.01|.	.|.	16.1977|16.1977	0.82042|0.82042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2419;2419|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|K	2419|1452	ENSP00000340648:E2419K;ENSP00000262854:E2419K|.	ENSP00000262854:E2419K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53605880|53605880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.680000|6.680000	0.74518|0.74518	2.164000|2.164000	0.68074|0.68074	0.513000|0.513000	0.50165|0.50165	GAG|AGA		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		17	12	0	0	0	0	17	12				
PCDH19	57526	broad.mit.edu	37	X	99657785	99657785	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:99657785C>G	ENST00000373034.4	-	3	4028	c.2353G>C	c.(2353-2355)Gac>Cac	p.D785H	PCDH19_ENST00000420881.2_Missense_Mutation_p.D738H|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	785					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGGCGGATGTCATTCTTACTG	0.448																																						uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2353-2355)GAC>CAC		protocadherin 19 isoform b							152.0	130.0	137.0					X																	99657785		1949	4126	6075	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657785C>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2353G>C	X.37:g.99657785C>G	ENSP00000362125:p.Asp785His					PCDH19_uc004efw.3_Missense_Mutation_p.D738H|PCDH19_uc004efx.3_Missense_Mutation_p.D738H	p.D785H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			3	4029	-			785			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2353G>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.205922	0.79127	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70986	-0.03;-0.53;-0.04	5.79	5.79	0.91817	.	0.044718	0.85682	D	0.000000	D	0.83926	0.5360	M	0.69523	2.12	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.75020	0.87;0.985;0.966	D	0.84679	0.0716	10	0.59425	D	0.04	.	19.0194	0.92906	0.0:1.0:0.0:0.0	.	785;738;738	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	738;785;738	ENSP00000400327:D738H;ENSP00000362125:D785H;ENSP00000255531:D738H	ENSP00000255531:D738H	D	-	1	0	PCDH19	99544441	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.485000	0.81204	2.440000	0.82611	0.591000	0.81541	GAC		0.448	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		10	14	0	0	0	0	10	14				
NKAP	79576	broad.mit.edu	37	X	119066103	119066103	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:119066103C>G	ENST00000371410.3	-	6	980	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	272	Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCCAGAAACTCTTCTTGGGAT	0.353																																						uc004esh.2		NA																	0				ovary(2)	2						c.(814-816)GAG>CAG		NFKB activating protein							147.0	152.0	150.0					X																	119066103		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119066103C>G	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.814G>C	X.37:g.119066103C>G	ENSP00000360464:p.Glu272Gln					NKAP_uc004esg.2_Missense_Mutation_p.E159Q	p.E272Q	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			6	981	-			272			Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.814G>C	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603177	0.28534	.	.	ENSG00000101882	ENST00000371410	T	0.16743	2.32	4.88	3.07	0.35406	.	0.102637	0.64402	D	0.000005	T	0.14313	0.0346	M	0.63843	1.955	0.36218	D	0.851837	P	0.43477	0.808	B	0.33960	0.173	T	0.18871	-1.0323	10	0.40728	T	0.16	-20.8081	8.4135	0.32657	0.0:0.6583:0.0:0.3417	.	272	Q8N5F7	NKAP_HUMAN	Q	272	ENSP00000360464:E272Q	ENSP00000360464:E272Q	E	-	1	0	NKAP	118950131	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	6.674000	0.74487	0.975000	0.38392	0.422000	0.28245	GAG		0.353	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		74	51	0	0	0	0	74	51				
LRRC7	57554	broad.mit.edu	37	1	70504339	70504340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:70504339_70504340insA	ENST00000035383.5	+	19	2748_2749	c.2718_2719insA	c.(2719-2721)aatfs	p.N907fs	LRRC7_ENST00000310961.5_Frame_Shift_Ins_p.N912fs|LRRC7_ENST00000415775.2_Frame_Shift_Ins_p.N191fs	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	907						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAGTCTTAGTAATGTCTTTTC	0.401																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2716-2721)AGTAATfs		leucine rich repeat containing 7																																				SO:0001589	frameshift_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504339_70504340insA		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2720dupA	1.37:g.70504341_70504341dupA	ENSP00000035383:p.Asn907fs					LRRC7_uc009wbg.2_Frame_Shift_Ins_p.S190fs|LRRC7_uc001deq.2_Frame_Shift_Ins_p.S147fs	p.S906fs	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2748_2749	+			906_907					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Frame_Shift_Ins	INS	ENST00000035383.5	37	c.2718_2719insA	CCDS645.1																																																																																				0.401	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		10	64	NA	NA	NA	NA	10	64	---	---	---	---
TUFT1	7286	broad.mit.edu	37	1	151542192	151542206	+	In_Frame_Del	DEL	GGCCAAGCTTCAGGA	GGCCAAGCTTCAGGA	-	rs553275896|rs149655288		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:151542192_151542206delGGCCAAGCTTCAGGA	ENST00000368849.3	+	7	602_616	c.540_554delGGCCAAGCTTCAGGA	c.(538-555)ctggccaagcttcaggag>ctg	p.AKLQE181del	TUFT1_ENST00000368848.2_In_Frame_Del_p.AKLQE156del|TUFT1_ENST00000353024.3_In_Frame_Del_p.AKLQE122del|TUFT1_ENST00000538902.1_In_Frame_Del_p.AKLQE200del|TUFT1_ENST00000392712.3_In_Frame_Del_p.AKLQE126del	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	181					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGACTTGCTGGCCAAGCTTCAGGAGGCCAAGCGG	0.54																																						uc001eyl.2		NA																	0					0						c.(538-555)CTGGCCAAGCTTCAGGAG>CTG		tuftelin 1 isoform 1																																				SO:0001651	inframe_deletion	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151542192_151542206delGGCCAAGCTTCAGGA	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.540_554delGGCCAAGCTTCAGGA	1.37:g.151542192_151542206delGGCCAAGCTTCAGGA	ENSP00000357842:p.Ala181_Glu185del					TUFT1_uc001eym.2_In_Frame_Del_p.AKLQE156del|TUFT1_uc010pdf.1_In_Frame_Del_p.AKLQE200del|TUFT1_uc010pdg.1_In_Frame_Del_p.AKLQE129del	p.AKLQE181del	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	602_616	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		181_185			Potential.		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	In_Frame_Del	DEL	ENST00000368849.3	37	c.540_554delGGCCAAGCTTCAGGA	CCDS1000.1																																																																																				0.540	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		39	203	NA	NA	NA	NA	39	203	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						uc001mkg.1		NA																	2	Deletion - In frame(2)		upper_aerodigestive_tract(1)|skin(1)	skin(1)	1						c.(1405-1413)CCTCCTACA>CCA		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PT470del	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			470_471					Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	3	NA	NA	NA	NA	8	3	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64906869	64906879	+	Frame_Shift_Del	DEL	GTGAAATTATG	GTGAAATTATG	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:64906869_64906879delGTGAAATTATG	ENST00000545908.1	+	18	2097_2107	c.1868_1878delGTGAAATTATG	c.(1867-1878)agtgaaattatgfs	p.SEIM623fs	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Frame_Shift_Del_p.SEIM567fs|CTD-2555O16.4_ENST00000609125.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	567	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TCTGTGGCCAGTGAAATTATGGCTGTCCTGG	0.479																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NA																	0				ovary(2)	2						c.(1699-1710)AGTGAAATTATGfs		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64906869_64906879delGTGAAATTATG	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1868_1878delGTGAAATTATG	14.37:g.64906869_64906879delGTGAAATTATG	ENSP00000438588:p.Ser623fs					MTHFD1_uc010aqe.2_Frame_Shift_Del_p.S603fs|MTHFD1_uc010aqf.2_Frame_Shift_Del_p.S623fs	p.S567fs	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	18	2087_2097	+			567_570			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Frame_Shift_Del	DEL	ENST00000545908.1	37	c.1700_1710delGTGAAATTATG																																																																																					0.479	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			24	38	NA	NA	NA	NA	24	38	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802886	24802887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:24802886_24802887insT	ENST00000395799.3	+	6	3052_3053	c.2923_2924insT	c.(2923-2925)atafs	p.I975fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.I975fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	975	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGGGACCTATACCAGCCCCA	0.525																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(2923-2925)ATAfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802886_24802887insT	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2924dupT	16.37:g.24802887_24802887dupT	ENSP00000379144:p.Ile975fs					TNRC6A_uc010bxs.2_Frame_Shift_Ins_p.I722fs|TNRC6A_uc010vcc.1_Frame_Shift_Ins_p.I722fs|TNRC6A_uc002dmn.2_Frame_Shift_Ins_p.I722fs|TNRC6A_uc002dmo.2_Frame_Shift_Ins_p.I722fs	p.I975fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	3037_3038	+			975			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.2923_2924insT	CCDS10624.2																																																																																				0.525	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		27	47	NA	NA	NA	NA	27	47	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20621406	20621407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:20621406_20621407insA	ENST00000202677.7	-	6	495_496	c.488_489insT	c.(487-489)atgfs	p.M163fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	163					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGGATGACATGACTGCTGG	0.485																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(487-489)ATGfs		akt substrate AS250																																				SO:0001589	frameshift_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621406_20621407insA	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.489dupT	20.37:g.20621407_20621407dupA	ENSP00000202677:p.Met163fs					RALGAPA2_uc010zsg.1_5'UTR	p.M163fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			6	631_632	-			163					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Ins	INS	ENST00000202677.7	37	c.488_489insT	CCDS46584.1																																																																																				0.485	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		22	84	NA	NA	NA	NA	22	84	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:46279864_46279866delCAA	ENST00000371998.3	+	20	3981_3983	c.3790_3792delCAA	c.(3790-3792)caadel	p.Q1276del	NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000372004.3_In_Frame_Del_p.Q1272del			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567														844	0.16853	0.3699	0.098	5008	,	,		14322	0.0952		0.0795	False		,,,				2504	0.1135					uc002xtk.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(3790-3792)CAAdel		nuclear receptor coactivator 3 isoform a																																				SO:0001651	inframe_deletion	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279864_46279866delCAA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3790_3792delCAA	20.37:g.46279864_46279866delCAA	ENSP00000361066:p.Gln1276del					NCOA3_uc010ght.1_In_Frame_Del_p.Q1267del|NCOA3_uc002xtl.2_In_Frame_Del_p.Q1272del|NCOA3_uc002xtm.2_In_Frame_Del_p.Q1271del|NCOA3_uc002xtn.2_In_Frame_Del_p.Q1275del|NCOA3_uc010zyc.1_In_Frame_Del_p.Q1071del	p.Q1276del	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	3995_3997	+			1276			Poly-Gln.|Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Del	DEL	ENST00000371998.3	37	c.3790_3792delCAA	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		12	93	NA	NA	NA	NA	12	93	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17841312	17841313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:17841312_17841313insT	ENST00000251496.2	+	17	2656_2657	c.2480_2481insT	c.(2479-2484)catgacfs	p.D828fs		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	828					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTAACAGTACATGACAATTTGG	0.312																																						uc003gpp.2		NA																	0				large_intestine(1)	1						c.(2479-2481)CATfs		chromosome condensation protein G																																				SO:0001589	frameshift_variant	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17841312_17841313insT	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2481dupT	4.37:g.17841313_17841313dupT	ENSP00000251496:p.Asp828fs					NCAPG_uc011bxj.1_Frame_Shift_Ins_p.H336fs	p.H827fs	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	17	2656_2657	+			827					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	c.2480_2481insT	CCDS3424.1																																																																																				0.312	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		9	31	NA	NA	NA	NA	9	31	---	---	---	---
GATB	5188	broad.mit.edu	37	4	152593929	152593930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:152593929_152593930insT	ENST00000515812.1	-	11	1422_1423	c.1406_1407insA	c.(1405-1407)gagfs	p.E469fs	PET112_ENST00000263985.6_Frame_Shift_Ins_p.E510fs|PET112_ENST00000507592.1_5'UTR|RP11-164P12.3_ENST00000514269.1_RNA|RP11-164P12.4_ENST00000508664.1_RNA																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GAGGATGGGCCTCCATCACAGA	0.609																																						uc003iml.2		NA																	0					0						c.(1528-1530)GAGfs		PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152593929_152593930insT																												ENST00000515812.1:c.1407dupA	4.37:g.152593930_152593930dupT	ENSP00000426859:p.Glu469fs					PET112L_uc003imk.2_RNA	p.E510fs	NM_004564	NP_004555	O75879	GATB_HUMAN			12	1541_1542	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	510						Frame_Shift_Ins	INS	ENST00000515812.1	37	c.1529_1530insA																																																																																					0.609	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			17	35	NA	NA	NA	NA	17	35	---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74114465	74114466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:74114465_74114466insA	ENST00000370336.4	+	5	779_780	c.621_622insA	c.(622-624)atgfs	p.M208fs	DDX43_ENST00000539829.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	208					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCACAAGTGCCATGTCAAAAGT	0.361																																						uc003pgw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(619-624)GCCATGfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43																																				SO:0001589	frameshift_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74114465_74114466insA		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.622dupA	6.37:g.74114466_74114466dupA	ENSP00000359361:p.Met208fs					DDX43_uc011dyn.1_Intron	p.A207fs	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			5	965_966	+			207_208					B4E0C8|Q6NXR1	Frame_Shift_Ins	INS	ENST00000370336.4	37	c.621_622insA	CCDS4977.1																																																																																				0.361	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		75	102	NA	NA	NA	NA	75	102	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e36-1		fibrocystin L precursor																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)					p.G1465_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4498	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37	c.4394_splice	CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	126	NA	NA	NA	NA	8	126	---	---	---	---
ACO1	48	broad.mit.edu	37	9	32448900	32448900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32448900delA	ENST00000309951.6	+	20	2515	c.2377delA	c.(2377-2379)aaafs	p.K793fs	ACO1_ENST00000541043.1_Frame_Shift_Del_p.K694fs|ACO1_ENST00000379923.1_Frame_Shift_Del_p.K793fs	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	793					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCAGGGAATCAAAGCCGTCCT	0.468																																						uc003zqw.3		NA																	0					0						c.(2377-2379)AAAfs		aconitase 1							109.0	98.0	102.0					9																	32448900		2203	4300	6503	SO:0001589	frameshift_variant	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32448900delA	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2377delA	9.37:g.32448900delA	ENSP00000309477:p.Lys793fs					ACO1_uc003zqx.3_Frame_Shift_Del_p.K793fs|ACO1_uc003zqy.3_RNA	p.K793fs	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	20	2532	+			793					D3DRK7|Q14652|Q5VZA7	Frame_Shift_Del	DEL	ENST00000309951.6	37	c.2377delA	CCDS6525.1																																																																																				0.468	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		34	24	NA	NA	NA	NA	34	24	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139410477	139410477	+	Frame_Shift_Del	DEL	T	T	-	rs369635394		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139410477delT	ENST00000277541.6	-	10	1700	c.1625delA	c.(1624-1626)aagfs	p.K542fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	542	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCAGGCACTTGGCACCATT	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1624-1626)AAGfs		notch1 preproprotein							51.0	58.0	56.0					9																	139410477		2070	4216	6286	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410477delT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1625delA	9.37:g.139410477delT	ENSP00000277541:p.Lys542fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'Flank	p.K542fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	10	1625	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	542			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.1625delA	CCDS43905.1																																																																																				0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		54	17	NA	NA	NA	NA	54	17	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153580304	153580305	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:153580304_153580305delAA	ENST00000369850.3	-	42	7090_7091	c.6854_6855delTT	c.(6853-6855)tttfs	p.F2285fs	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F2277fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.F2277fs|FLNA_ENST00000369856.3_Frame_Shift_Del_p.F418fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F2245fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2285					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGGTCCTCAAAAGAGATCTC	0.619																																						uc004fkk.2		NA																	0				breast(6)	6						c.(6853-6855)TTTfs		filamin A, alpha isoform 2																																				SO:0001589	frameshift_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580304_153580305delAA	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6854_6855delTT	X.37:g.153580306_153580307delAA	ENSP00000358866:p.Phe2285fs					FLNA_uc004fki.2_Frame_Shift_Del_p.F328fs|FLNA_uc011mzn.1_Frame_Shift_Del_p.F418fs|FLNA_uc010nuu.1_Frame_Shift_Del_p.F2277fs	p.F2285fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			42	7103_7104	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2285			Filamin 21.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	ENST00000369850.3	37	c.6854_6855delTT	CCDS48194.1																																																																																				0.619	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			40	22	NA	NA	NA	NA	40	22	---	---	---	---
