#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
CHD5	26038	broad.mit.edu	37	1	6171855	6171855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:6171855C>T	ENST00000262450.3	-	36	5328	c.5229G>A	c.(5227-5229)tgG>tgA	p.W1743*	CHD5_ENST00000378021.1_Nonsense_Mutation_p.W600*	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGCCAGCAGCCAGTAGTCAT	0.637																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5227-5229)tgG>tgA		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							49.0	53.0	52.0					1																	6171855		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6171855C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5229G>A	1.37:g.6171855C>T	ENSP00000262450:p.Trp1743*					CHD5_uc001alz.2_Nonsense_Mutation_p.W600*|CHD5_uc001ama.2_Non-coding_Transcript	p.W1743*	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	35	5340	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1743					A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.5229G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	58	33.077376	0.99980	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3188	18.4814	0.90812	0.0:1.0:0.0:0.0	.	.	.	.	X	1743;600;600	.	ENSP00000262450:W1743X	W	-	3	0	CHD5	6094442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.705000	0.84606	2.434000	0.82447	0.561000	0.74099	TGG		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CDA	978	broad.mit.edu	37	1	20944973	20944973	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:20944973C>T	ENST00000375071.3	+	4	535	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	118					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTGTACATGACCAAGCCGGAT	0.582																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(352-354)aCc>aTc		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						91.0	73.0	79.0					1																	20944973		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944973C>T	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.353C>T	1.37:g.20944973C>T	ENSP00000364212:p.Thr118Ile					CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.T118I	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	532	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	118						Missense_Mutation	SNP	ENST00000375071.3	37	c.353C>T	CCDS210.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405199	0.83230	.	.	ENSG00000158825	ENST00000375071	T	0.44083	0.93	5.72	5.72	0.89469	Cytidine deaminase-like (1);	0.167697	0.53938	D	0.000053	T	0.56529	0.1991	L	0.48935	1.535	0.51012	D	0.999903	D	0.58970	0.984	D	0.65323	0.934	T	0.55798	-0.8084	10	0.62326	D	0.03	.	15.3701	0.74557	0.0:1.0:0.0:0.0	.	118	P32320	CDD_HUMAN	I	118	ENSP00000364212:T118I	ENSP00000364212:T118I	T	+	2	0	CDA	20817560	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.234000	0.65343	2.703000	0.92315	0.491000	0.48974	ACC		0.582	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	
HNRNPR	10236	broad.mit.edu	37	1	23660032	23660032	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:23660032C>T	ENST00000374612.1	-	5	600	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HNRNPR_ENST00000374616.3_Silent_p.V159V|HNRNPR_ENST00000302271.6_Silent_p.V159V|HNRNPR_ENST00000478691.1_Silent_p.V58V|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000427764.2_Intron|HNRNPR_ENST00000426846.2_Silent_p.V58V	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	159					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCAGGTTGCACGCCAGAGT	0.453																																						uc001bgr.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(475-477)gtG>gtA		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.							111.0	97.0	102.0					1																	23660032		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23660032C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.477G>A	1.37:g.23660032C>T						HNRNPR_uc010odw.2_Intron|HNRNPR_uc009vql.3_Intron|HNRNPR_uc001bgp.4_Silent_p.V159V|HNRNPR_uc001bgs.4_Silent_p.V58V|HNRNPR_uc009vqk.3_Silent_p.V58V|HNRNPR_uc010odx.2_Silent_p.V58V	p.V159V	NM_005826	NP_001095867	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	4	636	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	159					Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.477G>A	CCDS232.1																																																																																				0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	
TXNIP	10628	broad.mit.edu	37	1	145439907	145439907	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:145439907C>T	ENST00000369317.4	+	3	787	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	151					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTGGATGTCAATACCCCTG	0.433																																						uc001enn.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(451-453)gtC>gtT		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							88.0	92.0	91.0					1																	145439907		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439907C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.453C>T	1.37:g.145439907C>T						TXNIP_uc010oys.2_Silent_p.V96V	p.V151V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			2	794	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		151					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.453C>T	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
RXFP4	339403	broad.mit.edu	37	1	155911855	155911855	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:155911855A>C	ENST00000368318.3	+	1	376	c.355A>C	c.(355-357)Acg>Ccg	p.T119P		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGGTTCTGACGGCCACTGT	0.632																																						uc010pgs.2																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(355-357)Acg>Ccg		Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.							84.0	72.0	76.0					1																	155911855		2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155911855A>C	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.355A>C	1.37:g.155911855A>C	ENSP00000357301:p.Thr119Pro						p.T119P	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			0	376	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		119					B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.355A>C	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266234	0.59540	.	.	ENSG00000173080	ENST00000368318	T	0.37915	1.17	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.250737	0.32473	N	0.006046	T	0.50360	0.1611	M	0.81239	2.535	0.35046	D	0.760173	D	0.76494	0.999	D	0.72982	0.979	T	0.60276	-0.7295	10	0.62326	D	0.03	-13.1521	11.8884	0.52615	1.0:0.0:0.0:0.0	.	119	Q8TDU9	RL3R2_HUMAN	P	119	ENSP00000357301:T119P	ENSP00000357301:T119P	T	+	1	0	RXFP4	154178479	0.004000	0.15560	0.551000	0.28230	0.990000	0.78478	1.448000	0.35112	1.906000	0.55180	0.379000	0.24179	ACG		0.632	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885	
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						uc001gfu.3																			1	Substitution - Missense(1)	p.A231T(2)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(691-693)Gca>Aca		Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.							220.0	216.0	217.0					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr					NME7_uc001gft.3_Missense_Mutation_p.A195T|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.A231T	p.A231T	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN			6	929	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
IGFN1	91156	broad.mit.edu	37	1	201182608	201182608	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:201182608C>T	ENST00000335211.4	+	12	8717	c.8587C>T	c.(8587-8589)Cgg>Tgg	p.R2863W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R23W|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	406						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATCAGAGCCGGGAGCCCCC	0.582																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8587-8589)Cgg>Tgg		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							62.0	57.0	59.0					1																	201182608		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182608C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8587C>T	1.37:g.201182608C>T	ENSP00000334714:p.Arg2863Trp					IGFN1_uc001gwb.3_Intron	p.R2863W	NM_001164586	NP_001158058					11	8717	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8587C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.110920|2.110920	0.37242|0.37242	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.58940	.|0.3;0.63	2.88|2.88	0.608|0.608	0.17569|0.17569	.|.	.|1.029950	.|0.07903	.|U	.|0.973045	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.33494	.|0.414	.|B	.|0.17433	.|0.018	T|T	0.23332|0.23332	-1.0191|-1.0191	5|10	.|0.48119	.|T	.|0.1	.|.	2.6671|2.6671	0.05056|0.05056	0.3266:0.3894:0.0:0.284|0.3266:0.3894:0.0:0.284	.|.	.|2863	.|F8WAI1	.|.	L|W	280|2863;23	.|ENSP00000334714:R2863W;ENSP00000295591:R23W	.|ENSP00000295591:R23W	P|R	+|+	2|1	0|2	IGFN1|IGFN1	199449231|199449231	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.941000|-0.941000	0.03925|0.03925	0.415000|0.415000	0.25817|0.25817	-0.424000|-0.424000	0.05967|0.05967	CCG|CGG		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
KDM5B	10765	broad.mit.edu	37	1	202722182	202722182	+	Frame_Shift_Del	DEL	T	T	-	rs534732205		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:202722182delT	ENST00000367265.3	-	12	2716	c.1552delA	c.(1552-1554)accfs	p.T518fs	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Frame_Shift_Del_p.T554fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	518	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCATACCAGGTTTTTGGCTCA	0.423																																						uc009xag.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1660-1662)accfs		Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.							65.0	71.0	69.0					1																	202722182		2203	4300	6503	SO:0001589	frameshift_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202722182delT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1552delA	1.37:g.202722182delT	ENSP00000356234:p.Thr518fs					KDM5B_uc001gyf.3_Frame_Shift_Del_p.T518fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	p.T554fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			12	1776	-			518			JmjC.		O95811|Q15752|Q9Y3Q5	Frame_Shift_Del	DEL	ENST00000367265.3	37	c.1660delA	CCDS30974.1																																																																																				0.423	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
GPRIN2	9721	broad.mit.edu	37	10	46999948	46999948	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:46999948G>A	ENST00000374317.1	+	3	1341	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	GPRIN2_ENST00000374314.4_Silent_p.A356A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677																																						uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1066-1068)gcG>gcA		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							90.0	85.0	87.0					10																	46999948		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:46999948G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1068G>A	10.37:g.46999948G>A						GPRIN2_uc021ppt.1_Silent_p.A356A	p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN			2	1203	+			356					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1068G>A	CCDS31192.1																																																																																				0.677	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
TYSND1	219743	broad.mit.edu	37	10	71905229	71905229	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:71905229G>A	ENST00000287078.6	-	1	1113	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	TYSND1_ENST00000335494.5_Missense_Mutation_p.H372Y|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	372	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GGGGACACGTGCCGACAGGTC	0.677																																						uc001jqr.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1114-1116)Cac>Tac		Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.							13.0	15.0	14.0					10																	71905229		2193	4287	6480	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905229G>A	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1114C>T	10.37:g.71905229G>A	ENSP00000287078:p.His372Tyr					TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.3_Intron	p.H372Y	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			0	1268	-			372			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1114C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625215	0.87560	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	D;T	0.94417	-3.42;0.84	4.6	4.6	0.57074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.059907	0.64402	D	0.000003	D	0.98055	0.9359	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99113	1.0847	10	0.66056	D	0.02	-10.9934	16.1563	0.81670	0.0:0.0:1.0:0.0	.	372;372	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	Y	372	ENSP00000287078:H372Y;ENSP00000335673:H372Y	ENSP00000287078:H372Y	H	-	1	0	TYSND1	71575235	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	8.767000	0.91732	2.371000	0.80710	0.655000	0.94253	CAC		0.677	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
PTEN	5728	broad.mit.edu	37	10	89720805	89720806	+	Frame_Shift_Ins	INS	-	-	T	rs398123330		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:89720805_89720806insT	ENST00000371953.3	+	8	2313_2314	c.956_957insT	c.(955-960)actttafs	p.L320fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	320	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T319fs*1(24)|p.L318fs*2(15)|p.T319fs*6(6)|p.R55fs*1(5)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAA	0.332		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		106	Deletion - Frameshift(54)|Whole gene deletion(37)|Insertion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.R55fs*1(5)|p.T319del(4)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.L318F(1)|p.T318fs*2(1)	central_nervous_system(28)|endometrium(27)|prostate(17)|skin(8)|breast(5)|ovary(5)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(955-957)actfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720805_89720806insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.959dupT	10.37:g.89720808_89720808dupT	ENSP00000361021:p.Leu320fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T319fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1988_1989	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.956_957insT	CCDS31238.1																																																																																				0.332	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TAF5	6877	broad.mit.edu	37	10	105145152	105145152	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:105145152G>A	ENST00000369839.3	+	8	1757	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	578					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTACTTGTTTGGTGGGATATA	0.423																																						uc001kwv.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1732-1734)ttG>ttA		Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.							111.0	97.0	102.0					10																	105145152		2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105145152G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1734G>A	10.37:g.105145152G>A						TAF5_uc010qqq.2_Intron	p.L578L	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	7	1757	+		Colorectal(252;0.0747)|Breast(234;0.128)	578					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.1734G>A	CCDS7547.1																																																																																				0.423	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
TCF7L2	6934	broad.mit.edu	37	10	114711317	114711317	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:114711317T>C	ENST00000355995.4	+	3	839	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TCF7L2_ENST00000369397.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000545257.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L111P|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L111P|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000369395.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000349937.2_Missense_Mutation_p.L111P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L111P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	111					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCCCCGACCTGACGAGCCCC	0.716			T	VTI1A	colorectal																																	uc021pyi.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(331-333)cTg>cCg		Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.							24.0	25.0	25.0					10																	114711317		2202	4300	6502	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114711317T>C	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.332T>C	10.37:g.114711317T>C	ENSP00000348274:p.Leu111Pro					TCF7L2_uc001lah.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.2_Missense_Mutation_p.L111P|TCF7L2_uc001lae.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.2_Missense_Mutation_p.L111P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyj.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyk.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.2_Missense_Mutation_p.L111P|TCF7L2_uc021pym.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyn.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyo.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.2_Missense_Mutation_p.L111P|TCF7L2_uc001lac.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.2_Missense_Mutation_p.L111P|TCF7L2_uc001lad.4_Missense_Mutation_p.L111P|TCF7L2_uc001lag.4_Missense_Mutation_p.L111P|TCF7L2_uc001laf.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.2_Missense_Mutation_p.L5P	p.L111P	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	2	839	+		Breast(234;0.058)|Colorectal(252;0.0615)	111					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.332T>C		.	.	.	.	.	.	.	.	.	.	t	13.77	2.336411	0.41398	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99394	-5.2;-5.21;-5.21;-5.24;-5.82;-5.82;-5.79;-5.22;-5.76	2.49	2.49	0.30216	CTNNB1 binding, N-teminal (1);	0.000000	0.39759	U	0.001263	D	0.99061	0.9678	M	0.67953	2.075	0.80722	D	1	D;D;D;P;P;D;D;D;D;B;D;D;P;P;D;P	0.89917	0.977;0.995;1.0;0.93;0.93;0.987;0.999;0.979;0.977;0.014;0.971;0.996;0.949;0.942;0.971;0.95	D;D;D;P;P;P;D;P;P;B;P;D;P;D;P;D	0.81914	0.936;0.968;0.995;0.826;0.837;0.905;0.981;0.864;0.905;0.12;0.739;0.956;0.794;0.921;0.847;0.925	D	0.99160	1.0861	10	0.87932	D	0	.	10.8136	0.46562	0.0:0.0:0.0:1.0	.	111;5;5;111;111;111;111;111;111;111;111;111;111;111;111;111	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	111;111;111;111;111;111;111;111;111;111;111;58	ENSP00000348274:L111P;ENSP00000440547:L111P;ENSP00000444972:L111P;ENSP00000446238:L111P;ENSP00000347949:L111P;ENSP00000446172:L111P;ENSP00000443626:L111P;ENSP00000358404:L111P;ENSP00000344823:L111P	ENSP00000345640:L58P	L	+	2	0	TCF7L2	114701307	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.380000	0.73158	0.970000	0.38263	0.000000	0.15137	CTG		0.716	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
CD6	923	broad.mit.edu	37	11	60785322	60785322	+	Silent	SNP	G	G	C	rs137857404		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:60785322G>C	ENST00000313421.7	+	11	1860	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P	CD6_ENST00000344028.5_Silent_p.P526P|CD6_ENST00000352009.5_Silent_p.P526P|CD6_ENST00000452451.2_Silent_p.P517P|CD6_ENST00000346437.4_Silent_p.P485P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	558					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTATCACCCGAGGAGCAACA	0.552																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0		p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1672-1674)ccG>ccC		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							81.0	81.0	81.0					11																	60785322		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785322G>C		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1674G>C	11.37:g.60785322G>C						CD6_uc001nqp.3_Silent_p.P558P|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.P526P|CD6_uc001nqt.3_Silent_p.P517P	p.P558P	NM_006725	NP_006716	P30203	CD6_HUMAN			10	1899	+			558					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1674G>C	CCDS7999.1																																																																																				0.552	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
ARHGEF17	9828	broad.mit.edu	37	11	73076830	73076830	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:73076830A>T	ENST00000263674.3	+	20	6183	c.5833A>T	c.(5833-5835)Acc>Tcc	p.T1945S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1945					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTCGTCCTCACCATGCCCAC	0.657																																						uc001otu.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5833-5835)Acc>Tcc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.							69.0	64.0	65.0					11																	73076830		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076830A>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5833A>T	11.37:g.73076830A>T	ENSP00000263674:p.Thr1945Ser						p.T1945S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			19	5854	+			1945					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5833A>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011952	0.54468	.	.	ENSG00000110237	ENST00000263674	T	0.35421	1.31	5.28	4.13	0.48395	WD40 repeat-like-containing domain (1);	0.102505	0.64402	N	0.000003	T	0.33323	0.0859	M	0.64170	1.965	0.47698	D	0.999498	B	0.28350	0.208	B	0.23716	0.048	T	0.08452	-1.0721	10	0.30854	T	0.27	-24.8968	10.8873	0.46974	0.8592:0.0:0.0:0.1408	.	1945	Q96PE2	ARHGH_HUMAN	S	1945	ENSP00000263674:T1945S	ENSP00000263674:T1945S	T	+	1	0	ARHGEF17	72754478	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.984000	0.70548	0.998000	0.38996	0.533000	0.62120	ACC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
KDM4D	55693	broad.mit.edu	37	11	94731887	94731887	+	Missense_Mutation	SNP	C	C	T	rs372591204		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:94731887C>T	ENST00000335080.5	+	3	2183	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	KDM4D_ENST00000536741.1_Missense_Mutation_p.R451C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	451					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGCAGACGTGGTCGTGG	0.602																																						uc021qow.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1351-1353)Cgt>Tgt		Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	64.0	65.0	65.0		1351	-6.8	0.0	11		65	0,8596		0,0,4298	no	missense	KDM4D	NM_018039.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	451/524	94731887	1,12997	2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731887C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1351C>T	11.37:g.94731887C>T	ENSP00000334181:p.Arg451Cys					KDM4D_uc001pfe.3_Missense_Mutation_p.R451C	p.R451C	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			0	1351	+			451					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1351C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954912	0.18431	2.27E-4	0.0	ENSG00000186280	ENST00000335080	T	0.32023	1.47	3.38	-6.77	0.01727	.	0.567300	0.15315	U	0.268847	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.09228	-1.0684	10	0.48119	T	0.1	0.8459	4.4586	0.11656	0.3952:0.3493:0.0:0.2555	.	451	Q6B0I6	KDM4D_HUMAN	C	451	ENSP00000334181:R451C	ENSP00000334181:R451C	R	+	1	0	KDM4D	94371535	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.528000	0.02225	-1.810000	0.01230	-0.397000	0.06425	CGT		0.602	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039	
SLCO1B7	338821	broad.mit.edu	37	12	21201833	21201833	+	Silent	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:21201833C>A	ENST00000421593.2	+	8	1182	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	LST3_ENST00000381541.3_Silent_p.T441T|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.T441T|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAACCTTGACCTATGATGGGT	0.318																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							67.0	70.0	69.0					12																	21201833		2165	4283	6448	SO:0001819	synonymous_variant	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21201833C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1182C>A	12.37:g.21201833C>A						SLCO1B3_uc010sim.2_Silent_p.T441T|SLCO1B3_uc010sin.2_Silent_p.T394T				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Silent	SNP	ENST00000421593.2	37		CCDS44843.1																																																																																				0.318	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
AAAS	8086	broad.mit.edu	37	12	53709176	53709176	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:53709176G>A	ENST00000209873.4	-	4	507	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.A114A|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGTGCCAGGGCCCAGCCGG	0.562																																						uc001scr.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(340-342)gcC>gcT		Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.							56.0	52.0	53.0					12																	53709176		2202	4300	6502	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53709176G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.342C>T	12.37:g.53709176G>A						AAAS_uc001scs.4_Silent_p.A114A	p.A114A	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			3	505	-			114					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.342C>T	CCDS8856.1																																																																																				0.562	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
POC1B	282809	broad.mit.edu	37	12	89864247	89864247	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:89864247A>G	ENST00000313546.3	-	7	829	c.701T>C	c.(700-702)aTa>aCa	p.I234T	POC1B_ENST00000549035.1_Missense_Mutation_p.I192T|POC1B_ENST00000393179.4_Missense_Mutation_p.I104T|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.I104T|POC1B_ENST00000378528.2_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	234					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATGGAATGATATGCAATTAAC	0.388																																						uc001tbc.3																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(700-702)aTa>aCa		Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.							129.0	123.0	125.0					12																	89864247		2203	4300	6503	SO:0001583	missense	282809				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89864247A>G	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.701T>C	12.37:g.89864247A>G	ENSP00000323302:p.Ile234Thr					GALNT4_uc001tba.3_Missense_Mutation_p.I192T|GALNT4_uc001tbb.3_Missense_Mutation_p.I104T|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	p.I234T	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN			6	1068	-			0			Catalytic subdomain A.		G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.701T>C	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773714	0.31411	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.729658	0.13574	N	0.377811	T	0.60366	0.2263	L	0.58969	1.84	0.80722	D	1	B	0.23185	0.081	B	0.25506	0.061	T	0.59532	-0.7437	10	0.66056	D	0.02	.	11.0391	0.47820	0.928:0.0:0.072:0.0	.	234	Q8TC44	POC1B_HUMAN	T	104;234;192;104	ENSP00000376877:I104T;ENSP00000323302:I234T;ENSP00000447916:I192T;ENSP00000440301:I104T	ENSP00000323302:I234T	I	-	2	0	POC1B	88388378	0.925000	0.31364	0.008000	0.14137	0.541000	0.35023	7.399000	0.79935	2.169000	0.68431	0.528000	0.53228	ATA		0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
TESC	54997	broad.mit.edu	37	12	117486887	117486887	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:117486887G>A	ENST00000335209.7	-	4	472	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TESC_ENST00000392545.4_Missense_Mutation_p.R149W|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R69W			Q96BS2	CHP3_HUMAN	tescalcin	96					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TCGATGGGCCGGAAGTAGGAC	0.587																																						uc001twh.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(286-288)Cgg>Tgg		Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.							171.0	128.0	142.0					12																	117486887		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117486887G>A	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.286C>T	12.37:g.117486887G>A	ENSP00000334785:p.Arg96Trp					TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.R69W	p.R96W	NM_017899	NP_060369	Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	3	450	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		96					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.286C>T	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144725	0.77888	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.50548	0.74;0.74;1.15	5.74	4.77	0.60923	EF-hand-like domain (1);	0.051692	0.64402	D	0.000001	T	0.72061	0.3414	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	T	0.77435	-0.2589	10	0.87932	D	0	-29.8397	15.7517	0.77992	0.0:0.0:0.8218:0.1782	.	96	Q96BS2	TESC_HUMAN	W	96;149;69	ENSP00000334785:R96W;ENSP00000376328:R149W;ENSP00000445689:R69W	ENSP00000334785:R96W	R	-	1	2	TESC	115971270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.049000	0.41288	2.709000	0.92574	0.555000	0.69702	CGG		0.587	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899	
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						uc010tap.2																			2	Substitution - Missense(2)	p.A1371V(4)|p.A1371A(1)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.A1371V|SBNO1_uc010taq.2_Missense_Mutation_p.A323V	p.A1372V	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	4115	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:129360490G>A	ENST00000442111.2	+	2	188	c.100G>A	c.(100-102)Gtt>Att	p.V34I	GLT1D1_ENST00000281703.6_Missense_Mutation_p.V34I|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V23I|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	34					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(67-69)Gtt>Att		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	150.0	152.0	152.0		100	-6.6	0.0	12	dbSNP_134	152	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GLT1D1	NM_144669.1	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	34/267	129360490	17,12989	2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360490G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.100G>A	12.37:g.129360490G>A	ENSP00000394692:p.Val34Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.V23I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096988	0.07010	9.08E-4	0.001512	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.48201	0.83;0.82;0.92	5.54	-6.59	0.01830	.	0.750686	0.12852	N	0.433825	T	0.18215	0.0437	N	0.10685	0.025	0.26759	N	0.970033	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08146	-1.0736	10	0.29301	T	0.29	-7.2202	4.1895	0.10414	0.3051:0.1938:0.406:0.0951	.	23;34	F5H088;Q96MS3-2	.;.	I	34;34;23	ENSP00000394692:V34I;ENSP00000281703:V34I;ENSP00000438158:V23I	ENSP00000281703:V34I	V	+	1	0	GLT1D1	127926443	0.000000	0.05858	0.008000	0.14137	0.587000	0.36485	-0.806000	0.04525	-1.715000	0.01389	-1.099000	0.02127	GTT		0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
TUBA3C	7278	broad.mit.edu	37	13	19751585	19751585	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:19751585C>T	ENST00000400113.3	-	4	642	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCACCACGGCCGTGGAGACC	0.547																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(538-540)Gcc>Acc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							151.0	154.0	153.0					13																	19751585		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751585C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.538G>A	13.37:g.19751585C>T	ENSP00000382982:p.Ala180Thr						p.A180T	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	643	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	180					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.538G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.66	1.705230	0.30232	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69926	-0.44	1.19	0.277	0.15668	.	0.000000	0.46758	U	0.000271	T	0.66528	0.2798	.	.	.	0.35808	D	0.823685	.	.	.	.	.	.	T	0.68827	-0.5306	7	0.87932	D	0	.	5.6682	0.17707	0.0:0.7911:0.0:0.2089	.	.	.	.	T	180	ENSP00000382982:A180T	ENSP00000354037:A180T	A	-	1	0	TUBA3C	18649585	0.999000	0.42202	0.981000	0.43875	0.520000	0.34377	4.642000	0.61383	0.069000	0.16605	0.162000	0.16502	GCC		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
RB1	5925	broad.mit.edu	37	13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-	rs367661403		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACATTTTTCATATGTCTTTAT	0.238		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	p.0?(15)|p.?(8)|p.H483fs*9(2)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CI030637|CI071455|CM016043	RB1	I|M		c.(1447-1449)catfs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48954327_48954328delAT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.H483fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	15	1614_1615	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	483			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1448_1449delAT	CCDS31973.1																																																																																				0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
ARHGEF40	55701	broad.mit.edu	37	14	21552177	21552179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:21552177_21552179delCTG	ENST00000298694.4	+	17	3884_3886	c.3757_3759delCTG	c.(3757-3759)ctgdel	p.L1254del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.L1254del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1254						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGGCAGAGACCTGCTGGCCGTGG	0.655																																						uc001vzp.3																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(3757-3759)ctgdel		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.																																				SO:0001651	inframe_deletion	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552177_21552179delCTG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3757_3759delCTG	14.37:g.21552180_21552182delCTG	ENSP00000298694:p.Leu1254del					ARHGEF40_uc001vzo.1_In_Frame_Del_p.L333del|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_In_Frame_Del_p.L540del	p.L1254del	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN			16	3786_3788	+			1254					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Del	DEL	ENST00000298694.4	37	c.3757_3759delCTG	CCDS32041.1																																																																																				0.655	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
HOMEZ	57594	broad.mit.edu	37	14	23746303	23746303	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:23746303G>A	ENST00000357460.5	-	2	298	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P47L|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P47L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGATTGGAGGGAGGCAGAT	0.532																																						uc001wja.2																			0				endometrium(5)|lung(7)	12						c.(133-135)cCt>cTt		Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.							100.0	95.0	96.0					14																	23746303		2016	4186	6202	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746303G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.134C>T	14.37:g.23746303G>A	ENSP00000350049:p.Pro45Leu					HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	p.P45L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	282	-	all_cancers(95;5.54e-06)		45					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.134C>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276655	0.80580	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.60424	0.19;0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70648	-0.4814	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	47;45	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	L	45;47	ENSP00000350049:P45L;ENSP00000406579:P47L	ENSP00000350049:P45L	P	-	2	0	HOMEZ	22816143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.352000	0.73027	2.824000	0.97209	0.655000	0.94253	CCT		0.532	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
ADAM20	8748	broad.mit.edu	37	14	70990596	70990596	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:70990596A>G	ENST00000256389.3	-	2	1273	c.1029T>C	c.(1027-1029)caT>caC	p.H343H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	293	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCAACATCATGTTGTAGTC	0.368																																						uc021rvs.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1027-1029)caT>caC		Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.							174.0	105.0	128.0					14																	70990596		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990596A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1029T>C	14.37:g.70990596A>G						ADAM20_uc001xme.3_Silent_p.H343H	p.H343H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	0	1029	-			293			Peptidase M12B.		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1029T>C	CCDS32111.1																																																																																				0.368	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
CDC42BPB	9578	broad.mit.edu	37	14	103447154	103447154	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:103447154C>A	ENST00000361246.2	-	8	1384	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGATGTGTCAGAGGGACTG	0.463																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1096-1098)Gac>Tac		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.							115.0	94.0	101.0					14																	103447154		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103447154C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1096G>T	14.37:g.103447154C>A	ENSP00000355237:p.Asp366Tyr						p.D366Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	7	1328	-		Melanoma(154;0.155)	366			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1096G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828022	0.90955	.	.	ENSG00000198752	ENST00000361246	T	0.41065	1.01	5.41	5.41	0.78517	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83084	-0.0136	10	0.87932	D	0	.	19.193	0.93675	0.0:1.0:0.0:0.0	.	366	Q9Y5S2	MRCKB_HUMAN	Y	366	ENSP00000355237:D366Y	ENSP00000355237:D366Y	D	-	1	0	CDC42BPB	102516907	1.000000	0.71417	0.980000	0.43619	0.926000	0.56050	7.792000	0.85828	2.562000	0.86427	0.655000	0.94253	GAC		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
AHNAK2	113146	broad.mit.edu	37	14	105415172	105415172	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:105415172G>T	ENST00000333244.5	-	7	6735	c.6616C>A	c.(6616-6618)Ctt>Att	p.L2206I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2206						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAAGGGGCTGAATG	0.642																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6616-6618)Ctt>Att		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							116.0	106.0	109.0					14																	105415172		1942	4131	6073	SO:0001583	missense	113146					nucleus		g.chr14:105415172G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6616C>A	14.37:g.105415172G>T	ENSP00000353114:p.Leu2206Ile					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	p.L2206I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	6736	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2206					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6616C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.467	0.856578	0.17106	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	4.26	4.26	0.50523	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999997	B	0.31290	0.318	B	0.35278	0.199	T	0.56092	-0.8036	9	0.48119	T	0.1	.	11.389	0.49802	0.0:0.184:0.816:0.0	.	2206	Q8IVF2	AHNK2_HUMAN	I	2206	ENSP00000353114:L2206I	ENSP00000353114:L2206I	L	-	1	0	AHNAK2	104486217	.	.	0.083000	0.20561	0.013000	0.08279	.	.	1.933000	0.56026	0.485000	0.47835	CTT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
RYR3	6263	broad.mit.edu	37	15	34080624	34080624	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:34080624C>T	ENST00000389232.4	+	67	9865	c.9795C>T	c.(9793-9795)ttC>ttT	p.F3265F	RYR3_ENST00000415757.3_Silent_p.F3265F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3265					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTATGCCTTCTACCCCATGC	0.557																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9793-9795)ttC>ttT		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							63.0	66.0	65.0					15																	34080624		2019	4207	6226	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080624C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9795C>T	15.37:g.34080624C>T						RYR3_uc010bar.3_Silent_p.F3265F	p.F3265F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9865	+		all_lung(180;7.18e-09)	3265					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9795C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
MAN2A2	4122	broad.mit.edu	37	15	91454437	91454437	+	Missense_Mutation	SNP	C	C	T	rs114870914		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:91454437C>T	ENST00000559717.1	+	13	2371	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R146C|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R638C			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	638					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCCAGAGCGCACGGTGAT	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20386	0.0		0.0	False		,,,				2504	0.0					uc010bnz.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1912-1914)Cgc>Tgc		Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.							82.0	63.0	69.0					15																	91454437		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454437C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1912C>T	15.37:g.91454437C>T	ENSP00000452948:p.Arg638Cys					MAN2A2_uc010boa.3_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.3_Missense_Mutation_p.R638C|MAN2A2_uc010uql.2_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.2_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	p.R638C	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		12	2027	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		638					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1912C>T	CCDS32332.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.1	4.094359	0.76870	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83506	-1.73;-1.73	5.19	4.2	0.49525	Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.149874	0.56097	D	0.000025	D	0.85097	0.5619	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.69078	0.997;0.991;0.997;0.981	P;P;P;P	0.54924	0.676;0.586;0.764;0.462	D	0.86272	0.1662	10	0.87932	D	0	-19.9469	11.5509	0.50721	0.3482:0.6518:0.0:0.0	.	146;266;638;638	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	C	638;146	ENSP00000353655:R638C;ENSP00000388221:R146C	ENSP00000353655:R638C	R	+	1	0	MAN2A2	89255441	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.984000	0.49353	2.600000	0.87896	0.485000	0.47835	CGC		0.617	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
ADCY9	115	broad.mit.edu	37	16	4042213	4042213	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:4042213G>T	ENST00000294016.3	-	5	2679	c.2141C>A	c.(2140-2142)cCg>cAg	p.P714Q	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACCTCAGCGGAAGGAGAGC	0.542																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2140-2142)cCg>cAg		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							105.0	93.0	97.0					16																	4042213		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042213G>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2141C>A	16.37:g.4042213G>T	ENSP00000294016:p.Pro714Gln						p.P714Q	NM_001116	NP_001107	O60503	ADCY9_HUMAN			4	2680	-			714					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2141C>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390043	0.61956	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.50333	1.59	0.54753	D	0.999982	P	0.40302	0.712	B	0.33620	0.167	T	0.78140	-0.2320	10	0.11794	T	0.64	.	18.9204	0.92523	0.0:0.0:1.0:0.0	.	714	O60503	ADCY9_HUMAN	Q	714	ENSP00000294016:P714Q	ENSP00000294016:P714Q	P	-	2	0	ADCY9	3982214	1.000000	0.71417	0.943000	0.38184	0.972000	0.66771	5.260000	0.65490	2.463000	0.83235	0.643000	0.83706	CCG		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
SOCS1	8651	broad.mit.edu	37	16	11348719	11348719	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:11348719G>T	ENST00000332029.2	-	2	767	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	206	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GAAGGGGAAGGAGCTCAGGTA	0.627			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""																																Colon(177;456 3548 27231)	uc021tcz.1				Rec	yes		16	16p13.13	8651	"""F, O"""	suppressor of cytokine signaling 1			L			"""Hodgkin Lymphoma, PMBL"""		2	Whole gene deletion(1)|Deletion - In frame(1)	p.S206P(1)|p.R127_*212del(1)|p.0?(1)|p.S205N(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						c.(616-618)tCc>tAc		Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.							16.0	17.0	16.0					16																	11348719		2190	4281	6471	SO:0001583	missense	8651				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	g.chr16:11348719G>T	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.617C>A	16.37:g.11348719G>T	ENSP00000329418:p.Ser206Tyr					RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Missense_Mutation_p.S206Y	p.S206Y	NM_003745	NP_003736	O15524	SOCS1_HUMAN			0	617	-			206			SOCS box.		O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	c.617C>A	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041562	0.55003	.	.	ENSG00000185338	ENST00000332029	T	0.28454	1.61	4.25	4.25	0.50352	SOCS protein, C-terminal (3);	0.208103	0.40302	N	0.001122	T	0.46502	0.1396	L	0.46157	1.445	0.50467	D	0.999879	D	0.65815	0.995	P	0.62649	0.905	T	0.49781	-0.8903	10	0.87932	D	0	-9.1369	15.8385	0.78818	0.0:0.0:1.0:0.0	.	206	O15524	SOCS1_HUMAN	Y	206	ENSP00000329418:S206Y	ENSP00000329418:S206Y	S	-	2	0	SOCS1	11256220	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	4.996000	0.63914	2.211000	0.71520	0.561000	0.74099	TCC		0.627	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1		
SEZ6L2	26470	broad.mit.edu	37	16	29908260	29908260	+	Missense_Mutation	SNP	G	G	A	rs201397581		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:29908260G>A	ENST00000308713.5	-	3	921	c.394C>T	c.(394-396)Cca>Tca	p.P132S	SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P88S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P132S|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	132	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGGGGTGGGGCTGTGGTT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		7272	0.001		0.0	False		,,,				2504	0.0					uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(394-396)Cca>Tca		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.							20.0	19.0	19.0					16																	29908260		2194	4294	6488	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908260G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.394C>T	16.37:g.29908260G>A	ENSP00000312550:p.Pro132Ser					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P88S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P132S	p.P132S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			2	639	-			132			Pro-rich.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.394C>T	CCDS10659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.60	2.286290	0.40494	.	.	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.41758	1.55;1.55;0.99	5.36	3.35	0.38373	.	0.126162	0.36482	N	0.002567	T	0.21631	0.0521	N	0.12182	0.205	0.40876	D	0.983954	B;B;B;B	0.21753	0.06;0.036;0.036;0.036	B;B;B;B	0.20767	0.031;0.014;0.014;0.014	T	0.06356	-1.0831	9	.	.	.	.	8.7224	0.34449	0.0804:0.0:0.7666:0.1529	.	88;132;132;132	F5H293;B7Z5L4;Q9BW82;Q6UXD5	.;.;.;SE6L2_HUMAN	S	132;132;88	ENSP00000312550:P132S;ENSP00000319215:P132S;ENSP00000439412:P88S	.	P	-	1	0	SEZ6L2	29815761	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	2.059000	0.41384	1.228000	0.43614	0.561000	0.74099	CCA		0.687	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
CHD9	80205	broad.mit.edu	37	16	53358755	53358755	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:53358755C>A	ENST00000398510.3	+	38	8729	c.8642C>A	c.(8641-8643)tCt>tAt	p.S2881Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2866Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2865Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2865Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2881	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8641-8643)tCt>tAt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							26.0	24.0	25.0					16																	53358755		1871	4094	5965	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358755C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8642C>A	16.37:g.53358755C>A	ENSP00000381522:p.Ser2881Tyr					CHD9_uc002egy.3_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.3_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.3_Missense_Mutation_p.S1979Y|CHD9_uc002ehg.2_Missense_Mutation_p.S1996Y|CHD9_uc010cbw.3_Missense_Mutation_p.S947Y	p.S2881Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			37	8806	+		all_cancers(37;0.0212)	2881			Poly-Ser.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8642C>A		.	.	.	.	.	.	.	.	.	.	C	13.49	2.252687	0.39797	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86432	-2.12	4.91	4.91	0.64330	.	0.000000	0.49305	D	0.000151	D	0.89901	0.6849	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.997;0.995;0.997	D;D;D;D	0.80764	0.994;0.994;0.986;0.994	D	0.90907	0.4773	10	0.56958	D	0.05	-11.8854	18.4523	0.90709	0.0:1.0:0.0:0.0	.	947;2866;2881;2865	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2866;2865;947	ENSP00000396345:S2866Y	ENSP00000381522:S2865Y	S	+	2	0	CHD9	51916256	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.686000	0.68211	2.427000	0.82271	0.655000	0.94253	TCT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CDH8	1006	broad.mit.edu	37	16	61687800	61687800	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:61687800C>A	ENST00000577390.1	-	12	3066	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.L704F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATAAACTGCAAATCTGGTT	0.428																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2110-2112)ttG>ttT		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							103.0	105.0	104.0					16																	61687800		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687800C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2112G>T	16.37:g.61687800C>A	ENSP00000462701:p.Leu704Phe						p.L704F	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	3067	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	704					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2112G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621833	0.14193	.	.	ENSG00000150394	ENST00000299345	T	0.77489	-1.1	5.7	3.58	0.41010	Cadherin, cytoplasmic domain (1);	0.073684	0.53938	D	0.000043	T	0.63908	0.2551	L	0.41492	1.28	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.55166	-0.8183	10	0.21014	T	0.42	.	5.662	0.17674	0.3554:0.5414:0.0:0.1031	.	704	P55286	CADH8_HUMAN	F	704	ENSP00000299345:L704F	ENSP00000299345:L704F	L	-	3	2	CDH8	60245301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.585000	0.36600	1.314000	0.45095	0.655000	0.94253	TTG		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
DPH1	1801	broad.mit.edu	37	17	1936938	1936938	+	Silent	SNP	C	C	A	rs375374400		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:1936938C>A	ENST00000263083.6	+	2	261	c.216C>A	c.(214-216)gcC>gcA	p.A72A	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	72					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAACAAGCCCAGGCCAAGA	0.582																																						uc010vqs.2																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(244-246)gcC>gcA		Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.							85.0	94.0	91.0					17																	1936938		1997	4146	6143	SO:0001819	synonymous_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1936938C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.216C>A	17.37:g.1936938C>A						DPH1_uc002fts.3_Silent_p.A72A|DPH1_uc002ftt.3_Silent_p.A67A|DPH1_uc010cjx.3_5'UTR	p.A82A	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			0	252	+			72					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Silent	SNP	ENST00000263083.6	37	c.246C>A	CCDS42228.1																																																																																				0.582	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383	
KRT38	8687	broad.mit.edu	37	17	39594785	39594785	+	Silent	SNP	C	C	T	rs374000196		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39594785C>T	ENST00000246646.3	-	5	977	c.978G>A	c.(976-978)acG>acA	p.T326T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	326	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCATTCACCGTGCATCTCA	0.597																																						uc002hwq.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(976-978)acG>acA		Homo sapiens keratin 38 (KRT38), mRNA.		C		0,4406		0,0,2203	145.0	110.0	122.0		978	-1.5	0.4	17		122	2,8592		0,2,4295	no	coding-synonymous	KRT38	NM_006771.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		326/457	39594785	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39594785C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.978G>A	17.37:g.39594785C>T							p.T326T	NM_006771	NP_006762	O76015	KRT38_HUMAN			4	1401	-		Breast(137;0.000496)	326			Coil 2.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.978G>A	CCDS11392.1																																																																																				0.597	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KRT16	3868	broad.mit.edu	37	17	39768925	39768925	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39768925G>A	ENST00000301653.4	-	1	80	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	6	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.657																																						uc002hxg.4																			0		p.R6L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(16-18)Cgc>Tgc		Homo sapiens keratin 16 (KRT16), mRNA.							8.0	8.0	8.0					17																	39768925		2034	4060	6094	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768925G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.16C>T	17.37:g.39768925G>A	ENSP00000301653:p.Arg6Cys					JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R6C	p.R6C	NM_005557	NP_005548	P08779	K1C16_HUMAN			0	155	-		Breast(137;0.000307)	6			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.16C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404390	0.42613	.	.	ENSG00000186832	ENST00000301653	T	0.76709	-1.04	4.33	3.28	0.37604	.	0.000000	0.46758	D	0.000272	T	0.56834	0.2012	N	0.19112	0.55	0.39499	D	0.968175	D	0.61697	0.99	B	0.40565	0.333	T	0.58668	-0.7596	10	0.39692	T	0.17	.	4.9763	0.14142	0.1028:0.0:0.569:0.3281	.	6	P08779	K1C16_HUMAN	C	6	ENSP00000301653:R6C	ENSP00000301653:R6C	R	-	1	0	KRT16	37022451	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	1.507000	0.35758	2.402000	0.81655	0.462000	0.41574	CGC		0.657	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
KLHL11	55175	broad.mit.edu	37	17	40010614	40010614	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:40010614C>T	ENST00000319121.3	-	2	1565	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	502										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GTATACAAACCGGTCTTCAAT	0.443																																						uc002hyf.1																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1504-1506)cGg>cAg		Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.							84.0	71.0	75.0					17																	40010614		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010614C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1505G>A	17.37:g.40010614C>T	ENSP00000314608:p.Arg502Gln						p.R502Q	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	1511	-		Breast(137;0.00156)	502						Missense_Mutation	SNP	ENST00000319121.3	37	c.1505G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457100	0.63401	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.67865	-0.29	5.26	5.26	0.73747	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.60068	0.868	T	0.64385	-0.6420	10	0.17832	T	0.49	8.6842	19.2191	0.93789	0.0:1.0:0.0:0.0	.	502	Q9NVR0	KLH11_HUMAN	Q	502;365	ENSP00000314608:R502Q	ENSP00000314608:R502Q	R	-	2	0	KLHL11	37264140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.353000	0.79414	2.606000	0.88127	0.585000	0.79938	CGG		0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143	
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587																																						uc002jyp.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(787-789)Gcc>Acc		Homo sapiens neuronal pentraxin I (NPTX1), mRNA.							201.0	173.0	183.0					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	945	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1		
POTEC	388468	broad.mit.edu	37	18	14533125	14533125	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr18:14533125A>G	ENST00000358970.5	-	5	989	c.990T>C	c.(988-990)gaT>gaC	p.D330D	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	330										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGAAGATACATCAACATTTT	0.373																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(988-990)gaT>gaC		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.																																				SO:0001819	synonymous_variant	388468							g.chr18:14533125A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.990T>C	18.37:g.14533125A>G						POTEC_uc010xaj.2_Non-coding_Transcript	p.D330D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			4	1444	-			330						Silent	SNP	ENST00000358970.5	37	c.990T>C	CCDS45835.1																																																																																				0.373	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607																																						uc010xjr.2																			0		p.Q250H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(751-753)Gtg>Atg		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							65.0	66.0	66.0					19																	7707143		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707143G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.718G>A	19.37:g.7707143G>A	ENSP00000221283:p.Val240Met					STXBP2_uc002mha.4_Missense_Mutation_p.V240M|STXBP2_uc002mhb.4_Missense_Mutation_p.V237M|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	p.V251M	NM_006949	NP_008880	Q15833	STXB2_HUMAN			8	796	+			240					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.751G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
USE1	55850	broad.mit.edu	37	19	17330166	17330166	+	Silent	SNP	C	C	T	rs369161038		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:17330166C>T	ENST00000263897.5	+	7	614	c.567C>T	c.(565-567)gcC>gcT	p.A189A	USE1_ENST00000596136.1_Intron|USE1_ENST00000379776.4_Intron|USE1_ENST00000445667.2_Silent_p.A189A	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	189					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						ATACCCTGGCCGcccagagtg	0.607																																						uc002nfo.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(565-567)gcC>gcT		Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.							28.0	33.0	31.0					19																	17330166		1951	4138	6089	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330166C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.567C>T	19.37:g.17330166C>T						USE1_uc010eal.1_Intron	p.A189A	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			6	627	+			189					Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.567C>T	CCDS46011.1																																																																																				0.607	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467	
ZNF85	7639	broad.mit.edu	37	19	21131689	21131689	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:21131689G>A	ENST00000328178.8	+	4	482	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.E90E|ZNF85_ENST00000601023.1_Silent_p.E64E	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	123					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTATGGATGAGTGTAAGATGC	0.328																																						uc002npg.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(367-369)gaG>gaA		Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.							62.0	64.0	63.0					19																	21131689		2203	4299	6502	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131689G>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.369G>A	19.37:g.21131689G>A						ZNF85_uc010ecn.3_Silent_p.E58E|ZNF85_uc010eco.3_Silent_p.E71E|ZNF85_uc002npi.3_Silent_p.E64E	p.E123E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			3	517	+			123					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.369G>A	CCDS32977.1																																																																																				0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
KMT2B	9757	broad.mit.edu	37	19	36223857	36223857	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:36223857T>A	ENST00000222270.7	+	28	6407	c.6407T>A	c.(6406-6408)cTc>cAc	p.L2136H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.L2136H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2136					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGGAGTCACTCCCCCCGGCG	0.662																																						uc021usv.1										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(6406-6408)cTc>cAc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							10.0	12.0	11.0					19																	36223857		1889	4108	5997	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36223857T>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6407T>A	19.37:g.36223857T>A	ENSP00000222270:p.Leu2136His	HNSCC(34;0.089)				MLL2_uc021usu.1_Missense_Mutation_p.L950H	p.L2136H	NM_014727	NP_055542	O14686	MLL2_HUMAN			27	6407	+			705			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6407T>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792497	0.02884	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	3.99	2.97	0.34412	.	0.216149	0.23420	N	0.048375	T	0.80613	0.4656	L	0.36672	1.1	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.69978	-0.4998	10	0.37606	T	0.19	.	6.2402	0.20787	0.0:0.2:0.0:0.8	.	2136	Q9UMN6	MLL4_HUMAN	H	2136	ENSP00000222270:L2136H;ENSP00000398837:L2136H	ENSP00000222270:L2136H	L	+	2	0	AD000671.1	40915697	0.001000	0.12720	0.077000	0.20336	0.289000	0.27227	0.821000	0.27338	1.797000	0.52628	0.374000	0.22700	CTC		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
TIA1	7072	broad.mit.edu	37	2	70457951	70457951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:70457951delA	ENST00000433529.2	-	3	369	c.159delT	c.(157-159)tttfs	p.F53fs	TIA1_ENST00000416149.2_Frame_Shift_Del_p.F53fs|TIA1_ENST00000282574.4_Frame_Shift_Del_p.F53fs|TIA1_ENST00000445587.1_Frame_Shift_Del_p.F53fs|TIA1_ENST00000415783.2_Frame_Shift_Del_p.F53fs|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GATGCTCATGAAACTCCACAA	0.398																																						uc002sgj.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(157-159)tttfs		Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.							131.0	128.0	129.0					2																	70457951		2203	4300	6503	SO:0001589	frameshift_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70457951delA		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.159delT	2.37:g.70457951delA	ENSP00000401371:p.Phe53fs					TIA1_uc002sgk.4_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.4_Non-coding_Transcript|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.2_Frame_Shift_Del_p.F53fs	p.F53fs	NM_022173	NP_071505	P31483	TIA1_HUMAN			2	376	-			53			RRM 1.		Q53SS9	Frame_Shift_Del	DEL	ENST00000433529.2	37	c.159delT	CCDS1901.1																																																																																				0.398	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037	
MAP3K19	80122	broad.mit.edu	37	2	135738775	135738775	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:135738775T>C	ENST00000375845.3	-	9	3566	c.3536A>G	c.(3535-3537)gAg>gGg	p.E1179G	MAP3K19_ENST00000358371.4_Missense_Mutation_p.E1066G|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E311G|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.E40G|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E313G|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E361G	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CACACAGTTCTCATGGAGATA	0.413																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3535-3537)gAg>gGg		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							142.0	140.0	140.0					2																	135738775		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738775T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3536A>G	2.37:g.135738775T>C	ENSP00000365005:p.Glu1179Gly					YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc021vpz.1_Missense_Mutation_p.E40G|YSK4_uc002tuh.4_Missense_Mutation_p.E907G|YSK4_uc002tui.4_3'UTR	p.E1179G	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3567	-			1179			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3536A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594632	0.46214	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000253	T	0.23766	0.0575	N	0.20807	0.61	0.25064	N	0.991043	P;P;P;P;P	0.52170	0.81;0.919;0.951;0.905;0.934	P;P;P;P;P	0.53401	0.498;0.604;0.553;0.553;0.725	T	0.12811	-1.0533	10	0.19590	T	0.45	.	9.6964	0.40161	0.0:0.0768:0.0:0.9232	.	311;1066;313;361;1179	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	G	1179;1066;361;313;311;569;40	ENSP00000365005:E1179G;ENSP00000351140:E1066G;ENSP00000365004:E361G;ENSP00000376650:E313G;ENSP00000376649:E311G;ENSP00000392827:E569G;ENSP00000321160:E40G	ENSP00000321160:E40G	E	-	2	0	YSK4	135455245	0.494000	0.26043	1.000000	0.80357	0.997000	0.91878	0.415000	0.21181	2.192000	0.70111	0.460000	0.39030	GAG		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
TTN	7273	broad.mit.edu	37	2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:179413171C>T	ENST00000591111.1	-	289	88483	c.88259G>A	c.(88258-88260)cGt>cAt	p.R29420H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31061H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29420	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498																																						uc021vsy.1																			0				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						c.(85477-85479)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							192.0	191.0	191.0					2																	179413171		2000	4160	6160	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413171C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88259G>A	2.37:g.179413171C>T	ENSP00000465570:p.Arg29420His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22188H|TTN_uc021vta.1_Missense_Mutation_p.R22121H|TTN_uc021vtb.1_Missense_Mutation_p.R21996H	p.R28493H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	85703	-			29420			Ig-like 132.		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.85478G>A		.	.	.	.	.	.	.	.	.	.	C	17.62	3.433719	0.62955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	M	0.73319	2.225	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74768	-0.3553	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	21996;22121;22188;29420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28493;21996;22188;22121;21993	ENSP00000343764:R28493H;ENSP00000434586:R21996H;ENSP00000340554:R22188H;ENSP00000352154:R22121H	ENSP00000340554:R22188H	R	-	2	0	TTN	179121417	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	4.102000	0.57776	2.646000	0.89796	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPAG16	79582	broad.mit.edu	37	2	214204919	214204919	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:214204919A>G	ENST00000331683.5	+	6	664	c.569A>G	c.(568-570)aAa>aGa	p.K190R	SPAG16_ENST00000447990.1_Missense_Mutation_p.K190R|SPAG16_ENST00000374309.3_Missense_Mutation_p.K96R|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.K190R|SPAG16_ENST00000413312.1_Missense_Mutation_p.K159R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	190					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATTCAGAAAGAACGTGAT	0.294																																						uc002veq.3																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(568-570)aAa>aGa		Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.							36.0	37.0	37.0					2																	214204919		2202	4296	6498	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214204919A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.569A>G	2.37:g.214204919A>G	ENSP00000332592:p.Lys190Arg					SPAG16_uc010fuz.2_Missense_Mutation_p.K41R|SPAG16_uc002ver.3_Missense_Mutation_p.K136R|SPAG16_uc010zjk.2_Missense_Mutation_p.K96R|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	p.K190R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	5	661	+		Renal(323;0.00461)	190					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.569A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112021	0.77210	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.62498	0.03;0.02	5.96	5.96	0.96718	.	0.065985	0.64402	D	0.000001	T	0.76744	0.4030	M	0.66939	2.045	0.36652	D	0.877449	D;P;P;D;D	0.69078	0.997;0.886;0.724;0.972;0.997	D;B;B;P;D	0.75020	0.985;0.44;0.292;0.728;0.985	T	0.81718	-0.0805	10	0.54805	T	0.06	.	14.4005	0.67041	1.0:0.0:0.0:0.0	.	96;41;159;130;190	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	R	190;159;190;190;96	ENSP00000332592:K190R;ENSP00000363428:K96R	ENSP00000272898:K190R	K	+	2	0	SPAG16	213913164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.615000	0.67702	2.285000	0.76669	0.533000	0.62120	AAA		0.294	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
FN1	2335	broad.mit.edu	37	2	216300455	216300455	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:216300455G>A	ENST00000359671.1	-	1	336	c.71C>T	c.(70-72)aCg>aTg	p.T24M	FN1_ENST00000356005.4_Missense_Mutation_p.T24M|FN1_ENST00000354785.4_Missense_Mutation_p.T24M|FN1_ENST00000336916.4_Missense_Mutation_p.T24M|FN1_ENST00000323926.6_Missense_Mutation_p.T24M|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.T24M|FN1_ENST00000426059.1_Missense_Mutation_p.T24M|FN1_ENST00000446046.1_Missense_Mutation_p.T24M|FN1_ENST00000346544.3_Missense_Mutation_p.T24M|FN1_ENST00000357009.2_Missense_Mutation_p.T24M|FN1_ENST00000421182.1_Missense_Mutation_p.T24M|FN1_ENST00000345488.5_Missense_Mutation_p.T24M|FN1_ENST00000357867.4_Missense_Mutation_p.T24M|FN1_ENST00000443816.1_Missense_Mutation_p.T24M			P02751	FINC_HUMAN	fibronectin 1	24					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGAGGCTCCCGTGGAGGGCAC	0.667																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(70-72)aCg>aTg		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24.0	22.0	23.0					2																	216300455		2203	4299	6502	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216300455G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.71C>T	2.37:g.216300455G>A	ENSP00000352696:p.Thr24Met					FN1_uc002vfc.3_Missense_Mutation_p.T24M|FN1_uc002vfe.3_Missense_Mutation_p.T24M|FN1_uc002vff.3_Missense_Mutation_p.T24M|FN1_uc002vfg.3_Missense_Mutation_p.T24M|FN1_uc002vfh.3_Missense_Mutation_p.T24M|FN1_uc002vfi.3_Missense_Mutation_p.T24M|FN1_uc002vfj.3_Missense_Mutation_p.T24M|FN1_uc002vfb.3_Missense_Mutation_p.T24M|FN1_uc002vfl.3_Missense_Mutation_p.T24M	p.T24M	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	0	337	-		Renal(323;0.127)	24					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	14.65	2.597892	0.46318	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;2.2;2.37;0.91;2.44;2.08;2.41;2.08;2.37;2.11;1.6;0.9;1.5;1.47	5.47	1.41	0.22369	.	0.804891	0.10972	N	0.613763	T	0.41673	0.1169	N	0.13098	0.295	0.09310	N	1	P;D;P;D;B;B;P;P;B;B;P	0.71674	0.865;0.98;0.759;0.998;0.265;0.173;0.864;0.834;0.265;0.265;0.742	B;P;B;P;B;B;P;B;B;B;B	0.61201	0.179;0.591;0.299;0.885;0.141;0.067;0.498;0.272;0.141;0.141;0.408	T	0.20107	-1.0285	10	0.35671	T	0.21	.	4.4412	0.11575	0.1304:0.1251:0.6154:0.1291	.	24;24;24;24;24;24;24;24;24;24;24	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	M	24	ENSP00000394423:T24M;ENSP00000323534:T24M;ENSP00000338200:T24M;ENSP00000350534:T24M;ENSP00000346839:T24M;ENSP00000352696:T24M;ENSP00000265312:T24M;ENSP00000273049:T24M;ENSP00000349509:T24M;ENSP00000410422:T24M;ENSP00000415018:T24M;ENSP00000399538:T24M;ENSP00000348285:T24M;ENSP00000398907:T24M	ENSP00000265313:T24M	T	-	2	0	FN1	216008700	0.022000	0.18835	0.000000	0.03702	0.165000	0.22458	1.952000	0.40343	0.278000	0.22164	0.585000	0.79938	ACG		0.667	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FAM134A	79137	broad.mit.edu	37	2	220046155	220046155	+	Silent	SNP	C	C	T	rs548711754		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:220046155C>T	ENST00000430297.2	+	7	985	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18963	0.0		0.0	False		,,,				2504	0.001					uc002vjw.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(847-849)agC>agT		Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.							56.0	57.0	57.0					2																	220046155		2203	4300	6503	SO:0001819	synonymous_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046155C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.849C>T	2.37:g.220046155C>T						FAM134A_uc010fwc.3_Silent_p.S76S|FAM134A_uc002vjx.3_Silent_p.S76S	p.S283S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	985	+		Renal(207;0.0915)	283					Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	c.849C>T	CCDS2434.1																																																																																				0.542	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293	
SP100	6672	broad.mit.edu	37	2	231406616	231406616	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:231406616G>A	ENST00000340126.4	+	28	2444	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACAGAGAGGGGTCTCAGGG	0.478																																						uc002vqu.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2413-2415)Ggg>Agg		Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.							78.0	76.0	76.0					2																	231406616		1879	4113	5992	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406616G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2413G>A	2.37:g.231406616G>A	ENSP00000343023:p.Gly805Arg					SP100_uc010fxp.1_Missense_Mutation_p.G123R	p.G805R	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	27	2554	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	0					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2413G>A	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698763|-1.698763	0.00725|0.00725	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|T	.|0.44482	.|0.92	3.99|3.99	-7.97|-7.97	0.01139|0.01139	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.11927|0.11927	0.2|0.2	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.07927|0.07927	-1.0747|-1.0747	5|9	.|0.26408	.|T	.|0.33	.|.	1.4994|1.4994	0.02473|0.02473	0.3483:0.289:0.2075:0.1552|0.3483:0.289:0.2075:0.1552	.|.	.|275;805	.|E9PHN1;P23497-4	.|.;.	E|R	178|805;275	.|ENSP00000343023:G805R	.|ENSP00000343023:G805R	G|G	+|+	2|1	0|0	SP100|SP100	231114860|231114860	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-5.808000|-5.808000	0.00097|0.00097	-4.311000|-4.311000	0.00057|0.00057	-1.814000|-1.814000	0.00607|0.00607	GGG|GGG		0.478	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113	
HDAC4	9759	broad.mit.edu	37	2	240002804	240002804	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:240002804A>G	ENST00000345617.3	-	22	3513	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L	HDAC4_ENST00000543185.1_Silent_p.L492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	908	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGCCGCCAAGTACTCAGCG	0.602																																						uc002vyk.4																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2722-2724)Ttg>Ctg		Homo sapiens histone deacetylase 4 (HDAC4), mRNA.							32.0	37.0	36.0					2																	240002804		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240002804A>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2722T>C	2.37:g.240002804A>G						HDAC4_uc010fyy.3_Silent_p.L865L	p.L908L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	21	3514	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	908			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2722T>C	CCDS2529.1																																																																																				0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
TPTE	7179	broad.mit.edu	37	21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:10934961G>T	ENST00000361285.4	-	15	1161	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.H240N|TPTE_ENST00000298232.7_Missense_Mutation_p.H260N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	278	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGATAGTGGTTTCGGTGT	0.348																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(832-834)Cac>Aac		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							257.0	229.0	238.0					21																	10934961		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934961G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.832C>A	21.37:g.10934961G>T	ENSP00000355208:p.His278Asn					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	p.H278N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1200	-			278			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.832C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.998	0.979327	0.18812	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.27402	1.67;1.67;1.67	2.25	1.34	0.21922	Phosphatase tensin type (1);	0.111614	0.64402	U	0.000010	T	0.28433	0.0703	M	0.66506	2.035	0.43103	D	0.994798	P;P;P	0.40032	0.537;0.699;0.587	B;B;B	0.41174	0.237;0.237;0.349	T	0.03641	-1.1017	10	0.41790	T	0.15	-28.4415	4.6427	0.12558	0.1905:0.0:0.8095:0.0	.	240;260;278	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	260;278;240	ENSP00000298232:H260N;ENSP00000355208:H278N;ENSP00000344441:H240N	ENSP00000298232:H260N	H	-	1	0	TPTE	9956832	1.000000	0.71417	0.055000	0.19348	0.113000	0.19764	7.162000	0.77515	0.515000	0.28320	0.194000	0.17425	CAC		0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
MAP3K7CL	56911	broad.mit.edu	37	21	30547106	30547106	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:30547106G>A	ENST00000399947.2	+	9	899	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.E208K|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.E102K|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.E108K	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	208						cytosol (GO:0005829)|nucleus (GO:0005634)											TCGGGAATTCGAGGCTCTGAC	0.517																																						uc002ynf.3																			0		p.F207F(1)		ovary(2)|prostate(1)	3						c.(622-624)Gag>Aag		Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.							122.0	114.0	117.0					21																	30547106		2203	4300	6503	SO:0001583	missense	56911					cytosol|nucleus	protein binding	g.chr21:30547106G>A	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.622G>A	21.37:g.30547106G>A	ENSP00000382828:p.Glu208Lys					C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.E208K|C21orf7_uc010glo.3_Missense_Mutation_p.E53K|C21orf7_uc002yng.3_Missense_Mutation_p.E108K|C21orf7_uc010glp.3_Non-coding_Transcript	p.E208K	NM_020152	NP_064537	P57077	TAK1L_HUMAN		Colorectal(56;0.248)	8	899	+			208					D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.622G>A	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946886	0.18356	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.45276	0.9;0.9	4.06	4.06	0.47325	.	0.269260	0.35903	N	0.002911	T	0.24122	0.0584	N	0.19112	0.55	0.36726	D	0.881458	P;P	0.51537	0.938;0.946	B;B	0.41894	0.124;0.369	T	0.17623	-1.0363	10	0.02654	T	1	-20.5512	13.43	0.61049	0.0:0.0:0.8422:0.1578	.	108;208	B0EVZ8;P57077	.;TAK1L_HUMAN	K	102;208;108;108;208;108;108;108;108	ENSP00000343212:E208K;ENSP00000382828:E208K	ENSP00000345777:E108K	E	+	1	0	C21orf7	29468977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.778000	0.62368	2.535000	0.85469	0.650000	0.86243	GAG		0.517	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152	
SON	6651	broad.mit.edu	37	21	34925244	34925244	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:34925244A>G	ENST00000356577.4	+	3	4182	c.3707A>G	c.(3706-3708)gAt>gGt	p.D1236G	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.D1236G|SON_ENST00000381679.4_Missense_Mutation_p.D1236G|SON_ENST00000300278.4_Missense_Mutation_p.D1236G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1236					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGCATCAGATCCCTCAGTT	0.478																																						uc002yse.1																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3706-3708)gAt>gGt		Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.							146.0	151.0	150.0					21																	34925244		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925244A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3707A>G	21.37:g.34925244A>G	ENSP00000348984:p.Asp1236Gly					SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.3_Missense_Mutation_p.D1236G|SON_uc002ysd.3_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.D882G|SON_uc002ysg.3_Missense_Mutation_p.D227G	p.D1236G	NM_138927	NP_620305	P18583	SON_HUMAN			2	3756	+			1236					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3707A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.28|17.28	3.349151|3.349151	0.61183|0.61183	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.12774|.	2.84;2.84;2.83;2.65|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.280929|.	0.25433|.	N|.	0.030714|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.29212|0.29212	N|N	0.874481|0.874481	P;P;B;P;P|.	0.45078|.	0.775;0.85;0.027;0.775;0.629|.	B;B;B;B;B|.	0.42282|.	0.382;0.197;0.035;0.382;0.382|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.66056|.	D|.	0.02|.	.|.	13.4258|13.4258	0.61024|0.61024	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1236;1236;917;1236;1236|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	G|V	1236|231	ENSP00000348984:D1236G;ENSP00000290239:D1236G;ENSP00000300278:D1236G;ENSP00000371095:D1236G|.	ENSP00000290239:D1236G|.	D|I	+|+	2|1	0|0	SON|SON	33847114|33847114	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	4.993000|4.993000	0.63895|0.63895	2.062000|2.062000	0.61559|0.61559	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.478	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
TRAPPC10	7109	broad.mit.edu	37	21	45503036	45503036	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:45503036A>G	ENST00000291574.4	+	14	2266	c.2091A>G	c.(2089-2091)agA>agG	p.R697R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	697					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTATCTGCAGAAACGTCCACA	0.547																																						uc002zea.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2089-2091)agA>agG		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							76.0	74.0	75.0					21																	45503036		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503036A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2091A>G	21.37:g.45503036A>G						TRAPPC10_uc010gpo.3_Silent_p.R408R|TRAPPC10_uc011afa.2_Silent_p.R116R	p.R697R	NM_003274	NP_003265	P48553	TPC10_HUMAN			13	2260	+			697					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2091A>G	CCDS13704.1																																																																																				0.547	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
COL6A2	1292	broad.mit.edu	37	21	47531965	47531965	+	Missense_Mutation	SNP	C	C	T	rs201094892	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:47531965C>T	ENST00000300527.4	+	3	292	c.188C>T	c.(187-189)aCg>aTg	p.T63M	COL6A2_ENST00000357838.4_Missense_Mutation_p.T63M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T63M|COL6A2_ENST00000409416.1_Missense_Mutation_p.T63M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T63M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	63	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.T63M(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCCCCCACGGACATCCTG	0.612													C|||	7	0.00139776	0.0023	0.0	5008	,	,		12985	0.001		0.001	False		,,,				2504	0.002					uc002zia.1																			3	Substitution - Missense(3)	p.T63M(4)	endometrium(3)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(187-189)aCg>aTg		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							109.0	75.0	87.0					21																	47531965		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531965C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.188C>T	21.37:g.47531965C>T	ENSP00000300527:p.Thr63Met					COL6A2_uc002zhz.1_Missense_Mutation_p.T63M|COL6A2_uc002zhy.1_Missense_Mutation_p.T63M	p.T63M	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	270	+	Breast(49;0.245)		63			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.188C>T	CCDS13728.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.024	0.760296	0.15914	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.34	0.924	0.19418	von Willebrand factor, type A (3);	0.253908	0.39475	N	0.001350	T	0.64962	0.2646	N	0.08118	0	0.29214	N	0.874385	D;D;D	0.64830	0.988;0.994;0.964	P;P;P	0.56398	0.797;0.681;0.536	T	0.60500	-0.7251	10	0.37606	T	0.19	-13.2612	5.6992	0.17873	0.0:0.3376:0.0:0.6624	.	63;63;63	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	63	ENSP00000300527:T63M;ENSP00000350497:T63M;ENSP00000312529:T63M;ENSP00000390418:T63M;ENSP00000387115:T63M;ENSP00000380870:T63M	ENSP00000300527:T63M	T	+	2	0	COL6A2	46356393	0.680000	0.27605	0.445000	0.26908	0.158000	0.22134	1.708000	0.37899	0.411000	0.25702	0.467000	0.42956	ACG		0.612	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
YDJC	150223	broad.mit.edu	37	22	21984158	21984158	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:21984158G>A	ENST00000292778.6	-	1	195	c.146C>T	c.(145-147)gCg>gTg	p.A49V	CCDC116_ENST00000292779.3_5'Flank|CCDC116_ENST00000607942.1_5'Flank|YDJC_ENST00000398873.3_Missense_Mutation_p.A49V	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	49					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAGCTCCGCCGCGCTCTCCGT	0.731																																						uc002zvb.2																			0											c.(145-147)gCg>gTg		Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.							9.0	10.0	10.0					22																	21984158		2159	4241	6400	SO:0001583	missense	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21984158G>A		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.146C>T	22.37:g.21984158G>A	ENSP00000292778:p.Ala49Val					YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.3_5'Flank	p.A49V	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN			0	183	-	Colorectal(54;0.105)		49					Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	c.146C>T	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017155	0.75161	.	.	ENSG00000161179	ENST00000292778;ENST00000398873	T;T	0.56275	0.47;0.47	4.29	4.29	0.51040	Polysaccharide deacetylase (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.91872	3.25	0.48571	D	0.999674	D;D	0.89917	0.999;1.0	P;D	0.79108	0.866;0.992	T	0.83131	-0.0113	10	0.87932	D	0	-20.3873	14.6937	0.69103	0.0:0.0:1.0:0.0	.	49;49	A8MPS7-2;A8MPS7	.;YDJC_HUMAN	V	49	ENSP00000292778:A49V;ENSP00000381847:A49V	ENSP00000292778:A49V	A	-	2	0	YDJC	20314158	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	6.538000	0.73852	2.384000	0.81235	0.639000	0.83563	GCG		0.731	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1		
TYMP	1890	broad.mit.edu	37	22	50967631	50967631	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:50967631G>A	ENST00000252029.3	-	3	513	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Silent_p.S117S|TYMP_ENST00000395681.1_Silent_p.S117S|TYMP_ENST00000395680.1_Silent_p.S117S	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	117					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CACCCCCTGTGGAATGCTTGT	0.637																																						uc003bme.4																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(349-351)tcC>tcT		Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						53.0	51.0	51.0					22																	50967631		2203	4300	6503	SO:0001819	synonymous_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967631G>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.351C>T	22.37:g.50967631G>A						SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Silent_p.S117S|TYMP_uc003bmc.4_Silent_p.S117S|TYMP_uc010hbd.3_Silent_p.S117S|TYMP_uc003bmd.4_Silent_p.S117S|TYMP_uc011arz.1_Silent_p.S117S	p.S117S	NM_001953	NP_001944	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	543	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	117					A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	c.351C>T	CCDS14096.1																																																																																				0.637	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	
CHRD	8646	broad.mit.edu	37	3	184099068	184099068	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr3:184099068A>G	ENST00000204604.1	+	3	544	c.298A>G	c.(298-300)Aag>Gag	p.K100E	CHRD_ENST00000348986.3_Missense_Mutation_p.K100E|CHRD_ENST00000450923.1_Missense_Mutation_p.K100E|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	100	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCAGCTGCAAGAACATCAA	0.647																																						uc003fov.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(298-300)Aag>Gag		Homo sapiens chordin (CHRD), mRNA.							19.0	23.0	22.0					3																	184099068		2201	4297	6498	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099068A>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.298A>G	3.37:g.184099068A>G	ENSP00000204604:p.Lys100Glu					CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.K100E|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	p.K100E	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	544	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		100			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.298A>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510967	0.64522	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.71579	-0.58;-0.58;-0.58	5.18	5.18	0.71444	von Willebrand factor, type C (3);	0.048756	0.85682	D	0.000000	T	0.60547	0.2277	N	0.24115	0.695	0.80722	D	1	B;B	0.27286	0.062;0.174	B;B	0.32724	0.151;0.068	T	0.61048	-0.7141	10	0.49607	T	0.09	-21.6553	13.8652	0.63583	1.0:0.0:0.0:0.0	.	100;100	E7ESX1;Q9H2X0	.;CHRD_HUMAN	E	100	ENSP00000204604:K100E;ENSP00000408972:K100E;ENSP00000334036:K100E	ENSP00000204604:K100E	K	+	1	0	CHRD	185581762	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.548000	0.73896	1.954000	0.56735	0.459000	0.35465	AAG		0.647	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						uc003haz.1																			2	Deletion - Frameshift(2)	p.L123fs*1(4)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)ttafs		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		8	1294	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
RASSF6	166824	broad.mit.edu	37	4	74464408	74464408	+	Silent	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:74464408G>T	ENST00000342081.3	-	3	319	c.189C>A	c.(187-189)acC>acA	p.T63T	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000307439.5_Silent_p.T31T|RASSF6_ENST00000395777.2_Silent_p.T31T	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	63					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATGTTATAGGTCTTCAATA	0.303																																						uc003hhd.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(187-189)acC>acA		Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.							57.0	56.0	56.0					4																	74464408		2201	4297	6498	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74464408G>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.189C>A	4.37:g.74464408G>T						RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	p.T63T	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	312	-	Breast(15;0.00102)		63					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.189C>A	CCDS3558.1																																																																																				0.303	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
EGF	1950	broad.mit.edu	37	4	110882086	110882086	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:110882086C>A	ENST00000265171.5	+	7	1575	c.1130C>A	c.(1129-1131)tCc>tAc	p.S377Y	EGF_ENST00000509793.1_Missense_Mutation_p.S335Y|EGF_ENST00000503392.1_Missense_Mutation_p.S377Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	377	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	ACCCCTGGATCCTATTACTGC	0.398																																						uc003hzy.4																			0				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						c.(1129-1131)tCc>tAc		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						242.0	218.0	226.0					4																	110882086		2203	4300	6503	SO:0001583	missense	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.chr4:110882086C>A	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.1130C>A	4.37:g.110882086C>A	ENSP00000265171:p.Ser377Tyr					EGF_uc011cfu.2_Missense_Mutation_p.S335Y|EGF_uc011cfv.2_Missense_Mutation_p.S377Y	p.S377Y	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	6	1582	+		Hepatocellular(203;0.0893)	377			EGF-like 2; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1130C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101505	0.76983	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95412	-3.7;-3.7;-3.7	4.82	4.82	0.62117	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99804	1.1037	10	0.72032	D	0.01	.	17.9396	0.89023	0.0:1.0:0.0:0.0	.	377;335;377	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	335;377;377	ENSP00000424316:S335Y;ENSP00000265171:S377Y;ENSP00000421384:S377Y	ENSP00000265171:S377Y	S	+	2	0	EGF	111101535	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	5.236000	0.65354	2.225000	0.72522	0.561000	0.74099	TCC		0.398	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
DNAH5	1767	broad.mit.edu	37	5	13883072	13883072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:13883072C>A	ENST00000265104.4	-	20	3219	c.3115G>T	c.(3115-3117)Gag>Tag	p.E1039*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1039	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGCACTCCACGGCTTTG	0.537									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3115-3117)Gag>Tag		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							173.0	151.0	159.0					5																	13883072		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883072C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3115G>T	5.37:g.13883072C>A	ENSP00000265104:p.Glu1039*						p.E1039*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	3157	-	Lung NSC(4;0.00476)		1039			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.3115G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	42	9.736460	0.99251	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	6.03	0.97812	.	0.103999	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	1039	.	ENSP00000265104:E1039X	E	-	1	0	DNAH5	13936072	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.846000	0.69444	2.868000	0.98415	0.557000	0.71058	GAG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
AP3B1	8546	broad.mit.edu	37	5	77473219	77473219	+	Silent	SNP	T	T	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:77473219T>G	ENST00000255194.6	-	9	1159	c.984A>C	c.(982-984)ccA>ccC	p.P328P	AP3B1_ENST00000519295.1_Silent_p.P279P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	328					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCAGATTTTGGTGATATGT	0.348									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(982-984)ccA>ccC		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							118.0	114.0	116.0					5																	77473219		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473219T>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.984A>C	5.37:g.77473219T>G							p.P328P	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	8	1109	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	328					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.984A>C	CCDS4041.1																																																																																				0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
GABRG2	2566	broad.mit.edu	37	5	161524689	161524689	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:161524689C>T	ENST00000361925.4	+	4	593	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	GABRG2_ENST00000414552.2_Missense_Mutation_p.R125C|GABRG2_ENST00000356592.3_Missense_Mutation_p.R125C|GABRG2_ENST00000393933.4_Missense_Mutation_p.R30C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	125					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R125C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGACAGACGTTTGAAATT	0.328																																						uc010jjc.3																			1	Substitution - Missense(1)	p.R125C(2)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(373-375)Cgt>Tgt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							90.0	91.0	91.0					5																	161524689		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524689C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.373C>T	5.37:g.161524689C>T	ENSP00000354651:p.Arg125Cys					GABRG2_uc003lyy.4_Missense_Mutation_p.R125C|GABRG2_uc003lyz.4_Missense_Mutation_p.R125C|GABRG2_uc011dej.2_Missense_Mutation_p.R30C	p.R125C	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	3	731	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	125					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.373C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819241	0.71028	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95812	0.8842	10	0.87932	D	0	.	15.6854	0.77405	0.1375:0.8625:0.0:0.0	.	125;125;125	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	125;125;125;30;30	ENSP00000349000:R125C;ENSP00000410732:R125C;ENSP00000354651:R125C;ENSP00000377510:R30C;ENSP00000430182:R30C	ENSP00000349000:R125C	R	+	1	0	GABRG2	161457267	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.215000	0.42862	2.756000	0.94617	0.563000	0.77884	CGT		0.328	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
HLA-DRA	3122	broad.mit.edu	37	6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:32410459C>T	ENST00000374982.5	+	2	390	c.317C>T	c.(316-318)cCg>cTg	p.P106L	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.P106L			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	106	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AACTATACTCCGATCACCAAT	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													uc003obh.3																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(316-318)cCg>cTg		Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.							206.0	189.0	195.0					6																	32410459		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410459C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.317C>T	6.37:g.32410459C>T	ENSP00000364121:p.Pro106Leu					HLA-DRA_uc003obi.3_Missense_Mutation_p.P106L	p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN			1	426	+			106			Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.317C>T		.	.	.	.	.	.	.	.	.	.	.	9.484	1.098919	0.20552	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01068	5.38;5.38	5.38	4.52	0.55395	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.061993	0.64402	D	0.000003	T	0.01287	0.0042	M	0.91300	3.195	0.21220	N	0.999756	P;P	0.40360	0.706;0.714	B;B	0.38378	0.272;0.057	T	0.31308	-0.9948	10	0.72032	D	0.01	.	9.7988	0.40751	0.0:0.9082:0.0:0.0918	.	106;106	Q30118;P01903	.;DRA_HUMAN	L	106	ENSP00000378786:P106L;ENSP00000364121:P106L	ENSP00000364121:P106L	P	+	2	0	HLA-DRA	32518437	0.000000	0.05858	0.037000	0.18230	0.008000	0.06430	0.135000	0.15952	1.523000	0.49018	0.638000	0.83543	CCG		0.463	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
DNAH8	1769	broad.mit.edu	37	6	38773311	38773311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:38773311delA	ENST00000359357.3	+	21	2692	c.2438delA	c.(2437-2439)gacfs	p.D813fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.D1030fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.D813fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	813					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAACAATGACTATGAAGCT	0.308																																						uc021yzh.1																			0		p.P1030T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3088-3090)gacfs		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							108.0	106.0	107.0					6																	38773311		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38773311delA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2438delA	6.37:g.38773311delA	ENSP00000352312:p.Asp813fs					DNAH8_uc003ooe.2_Frame_Shift_Del_p.D813fs	p.D1030fs	NM_001206927	NP_001193856					22	3198	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.3089delA																																																																																					0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
HEY2	23493	broad.mit.edu	37	6	126080811	126080811	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:126080811G>A	ENST00000368364.3	+	5	1074	c.877G>A	c.(877-879)Gca>Aca	p.A293T	HEY2_ENST00000368365.1_Missense_Mutation_p.A247T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	293	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCCCCAAACGCAGCAGCAGC	0.647																																						uc003qad.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(877-879)Gca>Aca		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							78.0	87.0	84.0					6																	126080811		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080811G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.877G>A	6.37:g.126080811G>A	ENSP00000357348:p.Ala293Thr					HEY2_uc011ebr.2_Missense_Mutation_p.A247T	p.A293T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	1068	+			293			Ala-rich.			Missense_Mutation	SNP	ENST00000368364.3	37	c.877G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918302	0.52546	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59906	0.25;0.23	5.64	5.64	0.86602	.	0.312221	0.30374	N	0.009766	T	0.25158	0.0611	N	0.08118	0	0.45261	D	0.998266	P	0.51653	0.947	B	0.40134	0.32	T	0.10132	-1.0643	10	0.18710	T	0.47	-13.3863	19.7057	0.96071	0.0:0.0:1.0:0.0	.	293	Q9UBP5	HEY2_HUMAN	T	247;293	ENSP00000357349:A247T;ENSP00000357348:A293T	ENSP00000357348:A293T	A	+	1	0	HEY2	126122504	0.992000	0.36948	0.086000	0.20670	0.779000	0.44077	3.035000	0.49759	2.651000	0.90000	0.561000	0.74099	GCA		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
USP42	84132	broad.mit.edu	37	7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:6189851C>T	ENST00000306177.5	+	13	2182	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	675					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562																																						uc011jwo.1																			2	Substitution - Missense(2)	p.A675V(1)|p.A803V(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2023-2025)gCg>gTg		Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.							32.0	36.0	34.0					7																	6189851		2060	4194	6254	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189851C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2024C>T	7.37:g.6189851C>T	ENSP00000301962:p.Ala675Val					USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.2_Missense_Mutation_p.A675V|USP42_uc011jwq.2_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	p.A675V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	2147	+		Ovarian(82;0.0423)	675					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2024C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369166	0.24771	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.47177	0.85;0.85	5.83	2.74	0.32292	.	1.448360	0.03809	N	0.265659	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.002;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.18147	-1.0346	10	0.37606	T	0.19	.	3.6091	0.08053	0.1788:0.4475:0.0:0.3737	.	638;675;675;675	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	V	675;521	ENSP00000301962:A675V;ENSP00000408217:A521V	ENSP00000301962:A675V	A	+	2	0	USP42	6156377	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.345000	0.19979	0.628000	0.30357	0.650000	0.86243	GCG		0.562	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
ZNF479	90827	broad.mit.edu	37	7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:57194352C>T	ENST00000331162.4	-	3	383	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398																																						uc010kzo.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(112-114)cGg>cAg		Homo sapiens zinc finger protein 479 (ZNF479), mRNA.							72.0	73.0	72.0					7																	57194352		2194	4293	6487	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194352C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.113G>A	7.37:g.57194352C>T	ENSP00000333776:p.Arg38Gln						p.R38Q	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		2	384	-			38			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.113G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.981095	0.00448	.	.	ENSG00000185177	ENST00000331162	T	0.02763	4.17	1.25	-1.27	0.09347	Krueppel-associated box (4);	.	.	.	.	T	0.03477	0.0100	M	0.80183	2.485	0.20489	N	0.999892	B	0.06786	0.001	B	0.09377	0.004	T	0.53173	-0.8476	9	0.02654	T	1	.	4.7395	0.13005	0.0:0.3561:0.0:0.6439	.	38	Q96JC4	ZN479_HUMAN	Q	38	ENSP00000333776:R38Q	ENSP00000333776:R38Q	R	-	2	0	ZNF479	57198294	0.001000	0.12720	0.503000	0.27626	0.530000	0.34684	-0.836000	0.04382	-0.139000	0.11414	-0.530000	0.04314	CGG		0.398	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
WBSCR17	64409	broad.mit.edu	37	7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:70597882G>A	ENST00000333538.5	+	1	728	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637																																						uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(94-96)Gcg>Acg		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							47.0	43.0	44.0					7																	70597882		2203	4298	6501	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597882G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.94G>A	7.37:g.70597882G>A	ENSP00000329654:p.Ala32Thr						p.A32T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			0	94	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	32					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.94G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620191	0.14193	.	.	ENSG00000185274	ENST00000333538	T	0.54675	0.56	4.85	1.87	0.25490	.	0.689293	0.12343	N	0.477303	T	0.20170	0.0485	N	0.02539	-0.55	0.29122	N	0.880214	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	10	0.12103	T	0.63	.	3.1355	0.06437	0.2502:0.0:0.3929:0.3569	.	32	Q6IS24	GLTL3_HUMAN	T	32	ENSP00000329654:A32T	ENSP00000329654:A32T	A	+	1	0	WBSCR17	70235818	0.985000	0.35326	0.999000	0.59377	0.976000	0.68499	0.334000	0.19787	0.622000	0.30249	-0.244000	0.11960	GCG		0.637	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
MUC17	140453	broad.mit.edu	37	7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9814-9816)Cca>Tca		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							336.0	334.0	334.0					7																	100684511		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684511C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9814C>T	7.37:g.100684511C>T	ENSP00000302716:p.Pro3272Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.P3272S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9867	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3272			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9814C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.591	0.477466	0.12521	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	1.25	-2.31	0.06765	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.29852	-0.9998	9	0.08599	T	0.76	.	2.0673	0.03605	0.2482:0.2806:0.0:0.4712	.	3272	Q685J3	MUC17_HUMAN	S	3272	ENSP00000302716:P3272S	ENSP00000302716:P3272S	P	+	1	0	MUC17	100471231	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.045000	0.00306	-0.659000	0.05359	0.196000	0.17591	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FOXP2	93986	broad.mit.edu	37	7	114303551	114303551	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:114303551G>A	ENST00000393494.2	+	15	2095	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.A623T|FOXP2_ENST00000350908.4_Missense_Mutation_p.A606T|FOXP2_ENST00000408937.3_Missense_Mutation_p.A631T|FOXP2_ENST00000393489.3_Missense_Mutation_p.A514T|FOXP2_ENST00000393498.2_Missense_Mutation_p.A585T|FOXP2_ENST00000393491.3_Missense_Mutation_p.A421T			O15409	FOXP2_HUMAN	forkhead box P2	606					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGGCTATGGAGCAGCTCTTAA	0.303																																						uc003vhb.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1816-1818)Gca>Aca		Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.							102.0	102.0	102.0					7																	114303551		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114303551G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1816G>A	7.37:g.114303551G>A	ENSP00000377132:p.Ala606Thr					FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.A631T|FOXP2_uc003vha.3_Missense_Mutation_p.A514T|FOXP2_uc011kmv.2_Missense_Mutation_p.A605T|FOXP2_uc011kmu.2_Missense_Mutation_p.A623T|FOXP2_uc010ljz.2_Missense_Mutation_p.A421T|FOXP2_uc003vhe.1_Missense_Mutation_p.A176T	p.A606T	NM_014491	NP_055306	O15409	FOXP2_HUMAN			14	2190	+			606					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1816G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184038	0.09495	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91631	-2.54;-2.54;-2.55;-2.54;-2.63;-2.88	5.44	5.44	0.79542	.	0.099617	0.64402	D	0.000001	D	0.85388	0.5685	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B	0.24823	0.001;0.001;0.112;0.001;0.007	B;B;B;B;B	0.24848	0.002;0.003;0.056;0.002;0.007	T	0.81250	-0.1018	10	0.08837	T	0.75	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	605;623;421;606;631	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	T	606;631;623;606;583;514;421	ENSP00000377132:A606T;ENSP00000386200:A631T;ENSP00000385069:A623T;ENSP00000265436:A606T;ENSP00000377129:A514T;ENSP00000377130:A421T	ENSP00000265436:A606T	A	+	1	0	FOXP2	114090787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.546000	0.85860	0.650000	0.86243	GCA		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
TMEM209	84928	broad.mit.edu	37	7	129843871	129843871	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:129843871A>C	ENST00000397622.2	-	2	205	c.83T>G	c.(82-84)gTg>gGg	p.V28G	TMEM209_ENST00000336804.8_Missense_Mutation_p.V27G|TMEM209_ENST00000473456.1_Missense_Mutation_p.V28G|TMEM209_ENST00000462753.1_Missense_Mutation_p.V27G|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTAAGACCACTTTCCTAGC	0.408																																						uc003vpn.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(82-84)gTg>gGg		Homo sapiens transmembrane protein 209 (TMEM209), mRNA.							91.0	81.0	84.0					7																	129843871		1863	4087	5950	SO:0001583	missense	84928					integral to membrane		g.chr7:129843871A>C		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.83T>G	7.37:g.129843871A>C	ENSP00000380747:p.Val28Gly					TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	p.V28G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			1	206	-	Melanoma(18;0.0435)		28					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.83T>G	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777829	0.70107	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.51252	-0.8729	10	0.38643	T	0.18	-19.825	15.3831	0.74676	1.0:0.0:0.0:0.0	.	28;28;28	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	G	28;27;28;27;28;71;27	ENSP00000380747:V28G;ENSP00000419697:V27G;ENSP00000417258:V28G;ENSP00000338388:V27G;ENSP00000419852:V71G;ENSP00000418474:V27G	ENSP00000338388:V27G	V	-	2	0	TMEM209	129631107	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.402000	0.90205	2.285000	0.76669	0.533000	0.62120	GTG		0.408	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	
TAS2R5	54429	broad.mit.edu	37	7	141490298	141490298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:141490298delT	ENST00000247883.4	+	1	282	c.137delT	c.(136-138)ctcfs	p.L46fs		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	46					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCATATAACCTCATTATCCTG	0.468																																						uc003vwr.1																			0		p.L46V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(136-138)ctcfs		Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.							114.0	110.0	111.0					7																	141490298		2203	4300	6503	SO:0001589	frameshift_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490298delT	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.137delT	7.37:g.141490298delT	ENSP00000247883:p.Leu46fs						p.L46fs	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			0	282	+	Melanoma(164;0.0171)		46					Q645W0|Q75MV7	Frame_Shift_Del	DEL	ENST00000247883.4	37	c.137delT	CCDS5869.1																																																																																				0.468	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1		
EPHX2	2053	broad.mit.edu	37	8	27362585	27362585	+	Silent	SNP	G	G	A	rs146337543		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:27362585G>A	ENST00000521400.1	+	4	889	c.459G>A	c.(457-459)tcG>tcA	p.S153S	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.S87S|EPHX2_ENST00000518379.1_Silent_p.S153S|EPHX2_ENST00000380476.3_Silent_p.S100S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	153	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TGATAGAGTCGTGTCAGGTGG	0.547																																						uc003xfu.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(457-459)tcG>tcA		Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	Tamoxifen(DB00675)	G		1,4405	2.1+/-5.4	0,1,2202	144.0	114.0	124.0		459	-11.1	0.0	8	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	EPHX2	NM_001979.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		153/556	27362585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27362585G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.459G>A	8.37:g.27362585G>A						EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luv.3_Silent_p.S87S|EPHX2_uc003xfv.3_Silent_p.S100S|EPHX2_uc010luw.3_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	p.S153S	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	540	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	153			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.459G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.668906	0.03403	2.27E-4	0.0	ENSG00000120915	ENST00000521684	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.45895	0.1365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60063	-0.7336	4	.	.	.	-11.6379	8.8271	0.35061	0.1163:0.3976:0.4168:0.0693	.	.	.	.	H	153	.	.	R	+	2	0	EPHX2	27418502	0.000000	0.05858	0.028000	0.17463	0.161000	0.22273	-4.152000	0.00284	-3.109000	0.00242	-0.938000	0.02693	CGT		0.547	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		
SLC7A13	157724	broad.mit.edu	37	8	87229698	87229698	+	Splice_Site	SNP	C	C	T	rs139960114		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:87229698C>T	ENST00000297524.3	-	3	1283		c.e3+1		SLC7A13_ENST00000419776.2_Splice_Site|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13							integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAATTTTACCTTATAAGGT	0.289																																						uc003ydq.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.e3+1		Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.		C		0,4346		0,0,2173	20.0	22.0	21.0			3.2	1.0	8	dbSNP_134	21	1,8543		0,1,4271	yes	splice-5	SLC7A13	NM_138817.2		0,1,6444	TT,TC,CC		0.0117,0.0,0.0078			87229698	1,12889	2173	4272	6445	SO:0001630	splice_region_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229698C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1179+1G>A	8.37:g.87229698C>T						SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	p.K393_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1277	-			393					Q05C37|Q08AH9|Q96N84	Splice_Site	SNP	ENST00000297524.3	37	c.1179_splice	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875763	0.33162	0.0	1.17E-4	ENSG00000164893	ENST00000297524;ENST00000419776	.	.	.	5.03	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4894	0.38951	0.0:0.8139:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A13	87298814	0.999000	0.42202	0.979000	0.43373	0.528000	0.34623	0.475000	0.22164	0.728000	0.32382	0.650000	0.86243	.		0.289	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	Intron
DOCK8	81704	broad.mit.edu	37	9	441311	441311	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:441311A>G	ENST00000453981.1	+	41	5361	c.5249A>G	c.(5248-5250)gAg>gGg	p.E1750G	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1217G|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1682G|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1650G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1750	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACAGTTAATGAGGTCTACAAG	0.473																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5248-5250)gAg>gGg		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							106.0	100.0	102.0					9																	441311		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441311A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5249A>G	9.37:g.441311A>G	ENSP00000408464:p.Glu1750Gly					DOCK8_uc022bcu.1_Missense_Mutation_p.E1682G|DOCK8_uc010mgv.3_Missense_Mutation_p.E1650G|DOCK8_uc010mgu.3_Missense_Mutation_p.E1052G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	p.E1750G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5361	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1750			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5249A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428223	0.83667	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18502	2.42;2.42;2.42;2.21	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	M	0.82823	2.61	0.80722	D	1	P;P;P	0.42584	0.784;0.784;0.784	P;B;P	0.47162	0.54;0.41;0.54	T	0.18147	-1.0346	10	0.56958	D	0.05	.	15.8331	0.78773	1.0:0.0:0.0:0.0	.	1650;1217;1750	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	G	1750;1718;1682;1650;1217	ENSP00000408464:E1750G;ENSP00000394888:E1682G;ENSP00000419438:E1650G;ENSP00000371766:E1217G	ENSP00000287364:E1718G	E	+	2	0	DOCK8	431311	1.000000	0.71417	0.993000	0.49108	0.743000	0.42351	8.651000	0.91078	2.315000	0.78130	0.533000	0.62120	GAG		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
UNC13B	10497	broad.mit.edu	37	9	35396552	35396552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:35396552C>A	ENST00000378495.3	+	26	3363	c.3141C>A	c.(3139-3141)taC>taA	p.Y1047*	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Y1059*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Y1047*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1047	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAATGAATACGTGCGGGATC	0.552																																						uc003zwr.3																			0		p.Y1047C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3139-3141)taC>taA		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							111.0	92.0	98.0					9																	35396552		2203	4300	6503	SO:0001587	stop_gained	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396552C>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3141C>A	9.37:g.35396552C>A	ENSP00000367756:p.Tyr1047*					UNC13B_uc003zwq.3_Nonsense_Mutation_p.Y1047*	p.Y1047*	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		25	3433	+	all_epithelial(49;0.212)		1047			MHD1.		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	c.3141C>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.961900	0.99018	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.66	-6.86	0.01676	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7012	18.4113	0.90552	0.0:0.2587:0.0:0.7413	.	.	.	.	X	1059;1047;1047;634	.	ENSP00000367756:Y1047X	Y	+	3	2	UNC13B	35386552	0.001000	0.12720	0.072000	0.20136	0.857000	0.48899	-1.491000	0.02302	-1.435000	0.01972	-1.028000	0.02416	TAC		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
CACNA1B	774	broad.mit.edu	37	9	140953153	140953153	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:140953153A>G	ENST00000371372.1	+	29	4586	c.4441A>G	c.(4441-4443)Ata>Gta	p.I1481V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.I1482V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.I677V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I1482V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I1481V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I1481V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1481					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGGCCATGATAGCCCTCAA	0.562																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4441-4443)Ata>Gta		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						63.0	59.0	60.0					9																	140953153		2029	4191	6220	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953153A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4441A>G	9.37:g.140953153A>G	ENSP00000360423:p.Ile1481Val					CACNA1B_uc022bqn.1_Missense_Mutation_p.I1481V|CACNA1B_uc011mfd.2_Missense_Mutation_p.I1082V|CACNA1B_uc004coi.3_Missense_Mutation_p.I695V	p.I1481V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	28	4586	+	all_cancers(76;0.166)		1481					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4441A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	33	5.226003	0.95173	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.47	5.47	0.80525	.	0.050906	0.85682	D	0.000000	D	0.98823	0.9603	H	0.95645	3.7	0.80722	D	1	B;D;D	0.60160	0.224;0.987;0.987	B;P;P	0.55615	0.055;0.78;0.78	D	0.99597	1.0977	10	0.87932	D	0	.	15.8881	0.79269	1.0:0.0:0.0:0.0	.	1481;1482;1481	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1481;1481;677;1481;1482;1482	ENSP00000360423:I1481V;ENSP00000277551:I1481V;ENSP00000277549:I677V;ENSP00000360414:I1481V;ENSP00000360408:I1482V;ENSP00000360406:I1482V	ENSP00000277549:I677V	I	+	1	0	CACNA1B	140072974	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.204000	0.95041	2.220000	0.72140	0.529000	0.55759	ATA		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
FAM9A	171482	broad.mit.edu	37	X	8766427	8766427	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:8766427G>T	ENST00000543214.1	-	4	449	c.314C>A	c.(313-315)cCt>cAt	p.P105H	FAM9A_ENST00000381003.3_Missense_Mutation_p.P105H	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	105						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCAGCAAAAGGTTCTCTTTC	0.423																																						uc022bsk.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(313-315)cCt>cAt		Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.							233.0	198.0	210.0					X																	8766427		2203	4300	6503	SO:0001583	missense	171482					nucleolus		g.chrX:8766427G>T		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.314C>A	X.37:g.8766427G>T	ENSP00000440163:p.Pro105His					FAM9A_uc004csg.3_Missense_Mutation_p.P105H	p.P105H	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN			3	450	-		Hepatocellular(5;0.219)	105					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.314C>A	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	g	1.723	-0.496115	0.04291	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.207	-0.413	0.12363	.	.	.	.	.	T	0.33702	0.0872	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.52793	0.709	T	0.20773	-1.0265	7	0.87932	D	0	.	.	.	.	.	105	Q8IZU1	FAM9A_HUMAN	H	105	.	ENSP00000370391:P105H	P	-	2	0	FAM9A	8726427	0.042000	0.20092	0.007000	0.13788	0.007000	0.05969	-0.583000	0.05807	-0.768000	0.04626	-0.757000	0.03467	CCT		0.423	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
MED14	9282	broad.mit.edu	37	X	40562700	40562700	+	Silent	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:40562700T>C	ENST00000324817.1	-	11	1525	c.1407A>G	c.(1405-1407)ggA>ggG	p.G469G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	469	Interaction with STAT2.				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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTTACCAAGTCCATAAAGCA	0.303																																						uc004dex.4																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1405-1407)ggA>ggG		Homo sapiens mediator complex subunit 14 (MED14), mRNA.							45.0	42.0	43.0					X																	40562700		2203	4300	6503	SO:0001819	synonymous_variant	9282				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.chrX:40562700T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1407A>G	X.37:g.40562700T>C							p.G469G	NM_004229	NP_004220	O60244	MED14_HUMAN			10	1547	-			469			Interaction with STAT2.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1407A>G	CCDS14254.1																																																																																				0.303	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
PFKFB1	5207	broad.mit.edu	37	X	54986282	54986282	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:54986282C>T	ENST00000375006.3	-	4	432	c.362G>A	c.(361-363)aGc>aAc	p.S121N	PFKFB1_ENST00000374992.2_Missense_Mutation_p.S99N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.S56N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	121	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCTCATGGCTGAGATAGTT	0.433																																						uc004dty.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(361-363)aGc>aAc		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.							45.0	40.0	42.0					X																	54986282		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986282C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.362G>A	X.37:g.54986282C>T	ENSP00000364145:p.Ser121Asn					PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	p.S121N	NM_002625	NP_002616	P16118	F261_HUMAN			3	433	-			121			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.362G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441597	0.25900	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.95	4.09	0.47781	6-phosphofructo-2-kinase (1);	0.149549	0.56097	D	0.000036	T	0.27489	0.0675	N	0.25286	0.73	0.21105	N	0.999784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.21008	-1.0258	9	0.66056	D	0.02	-12.3684	7.7823	0.29072	0.0:0.7484:0.1595:0.0921	.	56;99;121	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	N	121;56;99	.	ENSP00000364131:S99N	S	-	2	0	PFKFB1	55003007	0.035000	0.19736	0.884000	0.34674	0.023000	0.10783	2.202000	0.42743	1.014000	0.39417	-0.191000	0.12829	AGC		0.433	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
SPIN3	169981	broad.mit.edu	37	X	57020821	57020821	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:57020821C>T	ENST00000374919.3	-	2	882	c.560G>A	c.(559-561)cGc>cAc	p.R187H		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	187					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGAAGGATGCGGAGGTCACC	0.443																																						uc022bxv.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(559-561)cGc>cAc		Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.							81.0	79.0	80.0					X																	57020821		2113	4231	6344	SO:0001583	missense	169981				gamete generation			g.chrX:57020821C>T	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.560G>A	X.37:g.57020821C>T	ENSP00000364054:p.Arg187His					SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Missense_Mutation_p.R187H|SPIN3_uc004dux.1_Missense_Mutation_p.R187H	p.R187H	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			0	560	-			187					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.560G>A	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741696	0.03088	.	.	ENSG00000204271	ENST00000374919	T	0.47869	0.83	2.72	-1.63	0.08345	.	0.090297	0.44483	U	0.000449	T	0.28200	0.0696	L	0.37507	1.11	0.28587	N	0.909834	B	0.20887	0.049	B	0.13407	0.009	T	0.28427	-1.0044	10	0.12430	T	0.62	-0.0322	7.771	0.29008	0.0:0.5287:0.0:0.4713	.	187	Q5JUX0	SPIN3_HUMAN	H	187	ENSP00000364054:R187H	ENSP00000364054:R187H	R	-	2	0	SPIN3	57037546	1.000000	0.71417	0.001000	0.08648	0.054000	0.15201	1.095000	0.30964	-0.586000	0.05898	0.600000	0.82982	CGC		0.443	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
ZC3H12B	340554	broad.mit.edu	37	X	64722249	64722249	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:64722249C>T	ENST00000338957.4	+	5	1738	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ZC3H12B_ENST00000423889.3_Silent_p.I546I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	557							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGAACATCAACAGCATGC	0.483																																						uc010nko.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1669-1671)atC>atT		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							43.0	42.0	42.0					X																	64722249		1931	4121	6052	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722249C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1671C>T	X.37:g.64722249C>T							p.I557I	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1738	+			546					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1671C>T	CCDS48131.2																																																																																				0.483	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
TGIF2LX	90316	broad.mit.edu	37	X	89177514	89177514	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:89177514G>A	ENST00000561129.2	+	1	560	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A144T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GTCTGTGCCGGCCAAGTCAGG	0.582																																						uc022bzr.1																			0		p.P143S(1)|p.P143Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(430-432)Gcc>Acc		Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.							61.0	59.0	60.0					X																	89177514		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177514G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.430G>A	X.37:g.89177514G>A	ENSP00000453704:p.Ala144Thr					TGIF2LX_uc004efe.3_Missense_Mutation_p.A144T	p.A144T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			0	430	+			144					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.430G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979507	0.18812	.	.	ENSG00000153779	ENST00000283891	T	0.64803	-0.12	2.8	-1.17	0.09648	.	13.163000	0.00644	U	0.000535	T	0.58708	0.2141	M	0.77103	2.36	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.49504	-0.8933	9	.	.	.	-2.8934	2.6371	0.04961	0.4328:0.0:0.3479:0.2194	.	144	Q8IUE1	TF2LX_HUMAN	T	144	ENSP00000355119:A144T	.	A	+	1	0	TGIF2LX	89064170	0.006000	0.16342	0.001000	0.08648	0.020000	0.10135	0.623000	0.24447	-0.469000	0.06911	0.506000	0.49869	GCC		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
NRK	203447	broad.mit.edu	37	X	105181458	105181458	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:105181458C>A	ENST00000243300.9	+	22	3986	c.3683C>A	c.(3682-3684)tCt>tAt	p.S1228Y	NRK_ENST00000428173.2_Missense_Mutation_p.S1229Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1228	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCGATCTAATCTATAT	0.353										HNSCC(51;0.14)																												uc004emd.3																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3682-3684)tCt>tAt		Homo sapiens Nik related kinase (NRK), mRNA.							65.0	56.0	58.0					X																	105181458		1847	4079	5926	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105181458C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3683C>A	X.37:g.105181458C>A	ENSP00000434830:p.Ser1228Tyr	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.S896Y	p.S1228Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			21	3986	+			1228			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3683C>A		.	.	.	.	.	.	.	.	.	.	C	15.99	2.995799	0.54147	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.05081	3.5;3.5	5.55	3.55	0.40652	Citron-like (2);	0.000000	0.42420	D	0.000720	T	0.16128	0.0388	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.69654	0.965;0.944	T	0.00978	-1.1493	10	0.87932	D	0	.	8.6458	0.34005	0.2708:0.5926:0.1365:0.0	.	896;1228	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Y	1228;1229	ENSP00000434830:S1228Y;ENSP00000438378:S1229Y	ENSP00000434830:S1228Y	S	+	2	0	NRK	105068114	1.000000	0.71417	0.903000	0.35520	0.997000	0.91878	1.732000	0.38146	2.322000	0.78497	0.594000	0.82650	TCT		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
COL4A6	1288	broad.mit.edu	37	X	107404862	107404862	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:107404862A>G	ENST00000372216.4	-	42	4423	c.4323T>C	c.(4321-4323)ccT>ccC	p.P1441P	COL4A6_ENST00000545689.1_Silent_p.P1416P|COL4A6_ENST00000538570.1_Silent_p.P1383P|COL4A6_ENST00000394872.2_Silent_p.P1441P|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000334504.7_Silent_p.P1440P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1441	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAAATCCTGGAGGGCCTTGCA	0.607									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4321-4323)ccT>ccC		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							31.0	35.0	34.0					X																	107404862		2202	4297	6499	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107404862A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4323T>C	X.37:g.107404862A>G						COL4A6_uc004env.4_Silent_p.P1440P|COL4A6_uc011msn.2_Silent_p.P1416P|COL4A6_uc010npk.3_Silent_p.P1383P|COL4A6_uc011msm.1_5'Flank	p.P1441P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			41	4426	-			1441			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.4323T>C	CCDS14541.1																																																																																				0.607	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
