#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ZBTB40	9923	broad.mit.edu	37	1	22838486	22838486	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:22838486A>T	ENST00000375647.4	+	11	2527	c.2320A>T	c.(2320-2322)Acc>Tcc	p.T774S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.T662S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.T774S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	774					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGCAGTGAGACCAAGGATTC	0.537																																						uc001bft.2		NaN																	0				ovary(1)	1						c.(2320-2322)ACC>TCC		zinc finger and BTB domain containing 40							73.0	73.0	73.0					1																	22838486		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838486A>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2320A>T	1.37:g.22838486A>T	ENSP00000364798:p.Thr774Ser					ZBTB40_uc001bfu.2_Missense_Mutation_p.T774S|ZBTB40_uc009vqi.1_Missense_Mutation_p.T662S|ZBTB40_uc001bfv.1_Missense_Mutation_p.T403S	p.T774S	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2831	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	774					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.2320A>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049138	0.36181	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.75704	-0.96;-0.96;-0.96	5.73	3.45	0.39498	Zinc finger, C2H2-like (1);	0.364091	0.23468	N	0.047859	T	0.56529	0.1991	N	0.17872	0.535	0.23834	N	0.996716	B;B	0.24823	0.112;0.068	B;B	0.18561	0.022;0.014	T	0.47983	-0.9074	10	0.48119	T	0.1	-12.4022	8.2379	0.31638	0.7689:0.0:0.2311:0.0	.	662;774	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	774;774;662	ENSP00000384527:T774S;ENSP00000364798:T774S;ENSP00000363782:T662S	ENSP00000363782:T662S	T	+	1	0	ZBTB40	22711073	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	2.451000	0.44952	0.456000	0.26937	0.533000	0.62120	ACC		0.537	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		21	21	0	0	0	0.003954	0	21	21		
OSCP1	127700	broad.mit.edu	37	1	36886081	36886081	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:36886081C>G	ENST00000356637.5	-	9	1048	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	OSCP1_ENST00000235532.5_Missense_Mutation_p.E319Q|OSCP1_ENST00000315643.9_Splice_Site_p.G329R|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000433045.2_Missense_Mutation_p.E274Q|SNORA63_ENST00000364578.1_RNA			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	329					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						acatactcctcttcttcaTCG	0.418											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cap.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(985-987)GAG>CAG		oxidored-nitro domain-containing protein isoform							184.0	194.0	191.0					1																	36886081		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36886081C>G		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.985G>C	1.37:g.36886081C>G	ENSP00000349052:p.Glu329Gln		OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	OSCP1_uc001caq.2_Missense_Mutation_p.E319Q	p.E329Q	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			9	1067	-			329					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.985G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	18.61|18.61|18.61	3.660096|3.660096|3.660096	0.67586|0.67586|0.67586	.|.|.	.|.|.	ENSG00000116885|ENSG00000116885|ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045|ENST00000315643|ENST00000468441	T;T;T|T|.	0.35973|0.21734|.	1.7;1.72;1.28|1.99|.	6.07|6.07|6.07	6.07|6.07|6.07	0.98685|0.98685|0.98685	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.77844|0.77844|0.77844	0.4191|0.4191|0.4191	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.41381|0.41381|0.41381	D|D|D	0.987555|0.987555|0.987555	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.77004|.|.	0.989;0.974|.|.	T|T|T	0.75758|0.75758|0.75758	-0.3205|-0.3205|-0.3205	10|7|5	0.41790|0.66056|.	T|D|.	0.15|0.02|.	.|.|.	19.6454|19.6454|19.6454	0.95775|0.95775|0.95775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	319;329|.|.	Q8WVF1-3;Q8WVF1|.|.	.;OSCP1_HUMAN|.|.	Q|R|N	319;329;274|329|56	ENSP00000235532:E319Q;ENSP00000349052:E329Q;ENSP00000390820:E274Q|ENSP00000314541:G329R|.	ENSP00000235532:E319Q|ENSP00000314541:G329R|.	E|G|K	-|-|-	1|1|3	0|0|2	OSCP1|OSCP1|OSCP1	36658668|36658668|36658668	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.398000|7.398000|7.398000	0.79919|0.79919|0.79919	2.890000|2.890000|2.890000	0.99128|0.99128|0.99128	0.586000|0.586000|0.586000	0.80456|0.80456|0.80456	GAG|GGG|AAG		0.418	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1		NM_145047		51	197	0	0	0	0.00361	0	51	197		
ST6GALNAC3	256435	broad.mit.edu	37	1	76877711	76877711	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:76877711G>A	ENST00000328299.3	+	3	380	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	78					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTGGACTGTGACCTTTGTGC	0.413																																						uc001dhh.2		NaN																	0				ovary(3)|skin(2)	5						c.(232-234)GAC>AAC		sialyltransferase 7C isoform 1							98.0	89.0	92.0					1																	76877711		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877711G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.232G>A	1.37:g.76877711G>A	ENSP00000329214:p.Asp78Asn					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.D78N|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.D13N	p.D78N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	395	+			78			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.232G>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	3.002	-0.205728	0.06180	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.28666	1.6	6.17	3.27	0.37495	.	0.413281	0.30244	N	0.010063	T	0.05364	0.0142	N	0.04724	-0.175	0.31685	N	0.642619	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.27434	-1.0074	10	0.38643	T	0.18	-18.0075	9.6543	0.39917	0.2298:0.0:0.7702:0.0	.	13;78;78	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	N	78;78;77;12	ENSP00000329214:D78N	ENSP00000329214:D78N	D	+	1	0	ST6GALNAC3	76650299	1.000000	0.71417	0.950000	0.38849	0.391000	0.30476	3.221000	0.51215	0.456000	0.26937	-0.119000	0.15052	GAC		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1		NM_152996		47	49	0	0	0	0.00361	0	47	49		
DPH5	51611	broad.mit.edu	37	1	101490988	101490988	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:101490988G>A	ENST00000370109.3	-	2	124	c.12C>T	c.(10-12)ctC>ctT	p.L4L	DPH5_ENST00000488176.1_Silent_p.L4L|DPH5_ENST00000342173.7_Silent_p.L4L|RP11-421L21.3_ENST00000453011.1_RNA|DPH5_ENST00000370105.3_5'UTR|RP11-421L21.3_ENST00000446527.1_RNA	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	4					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CCAACCCGATGAGATAAAGCA	0.488																																						uc001dts.2		NaN																	0					0						c.(10-12)CTC>CTT		diphthine synthase isoform a							57.0	56.0	56.0					1																	101490988		1946	4148	6094	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101490988G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.12C>T	1.37:g.101490988G>A						DPH5_uc001dtr.2_Silent_p.L4L|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.L4L|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Silent_p.L4L|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA|uc001dua.2_5'Flank|uc001dub.2_5'Flank	p.L4L	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	2	159	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	4					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.12C>T	CCDS41358.1																																																																																				0.488	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1		NM_015958		15	45	0	0	0	0.004007	0	15	45		
POLR3C	10623	broad.mit.edu	37	1	145601614	145601614	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:145601614G>A	ENST00000334163.3	-	7	952	c.792C>T	c.(790-792)agC>agT	p.S264S	POLR3C_ENST00000369294.1_Silent_p.S264S|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	264					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCACAATCTCGCTGCTTGTCT	0.453																																						uc001eoh.2		NaN																	0				ovary(1)	1						c.(790-792)AGC>AGT		polymerase (RNA) III (DNA directed) polypeptide							159.0	147.0	151.0					1																	145601614		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145601614G>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.792C>T	1.37:g.145601614G>A						NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S277S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.S264S	p.S264S	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		7	953	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		264					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.792C>T	CCDS921.1																																																																																				0.453	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1		NM_006468		6	34	0	0	0	0.001984	0	6	34		
RPRD2	23248	broad.mit.edu	37	1	150444932	150444932	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:150444932C>T	ENST00000369068.4	+	11	3512	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1144W|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1170						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATACAAGGAACGGGCACCTCA	0.532																																						uc009wlr.2		NaN																	0				ovary(1)	1						c.(3508-3510)CGG>TGG		Regulation of nuclear pre-mRNA domain containing							92.0	89.0	90.0					1																	150444932		2004	4171	6175	SO:0001583	missense	23248						protein binding	g.chr1:150444932C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3508C>T	1.37:g.150444932C>T	ENSP00000358064:p.Arg1170Trp					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1144W	p.R1170W	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	3709	+			1170					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3508C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990314	0.54041	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.54071	0.59;0.59	4.59	4.59	0.56863	.	0.256776	0.33382	N	0.004976	T	0.50326	0.1609	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.924;0.965	T	0.60403	-0.7270	10	0.87932	D	0	-7.5015	17.1925	0.86883	0.0:1.0:0.0:0.0	.	1170;1144	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	W	1144;1170	ENSP00000383785:R1144W;ENSP00000358064:R1170W	ENSP00000358064:R1170W	R	+	1	2	RPRD2	148711556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.363000	0.80096	0.563000	0.77884	CGG		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203		15	60	0	0	0	0.00499	0	15	60		
ATP8B2	57198	broad.mit.edu	37	1	154320946	154320946	+	Missense_Mutation	SNP	G	G	A	rs368404389	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:154320946G>A	ENST00000368489.3	+	27	3325	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1095					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCACAGTCGTCTGCATCAT	0.607													G|||	17	0.00339457	0.0	0.0	5008	,	,		10810	0.0		0.0	False		,,,				2504	0.0174					uc001fex.2		NaN																	0				ovary(1)|skin(1)	2						c.(3325-3327)GTC>ATC		ATPase, class I, type 8B, member 2 isoform a							92.0	76.0	81.0					1																	154320946		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154320946G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3325G>A	1.37:g.154320946G>A	ENSP00000357475:p.Val1109Ile						p.V1109I	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		27	3325	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1095			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3325G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645918	0.29246	.	.	ENSG00000143515	ENST00000368489	T	0.42513	0.97	4.55	4.55	0.56014	.	0.222920	0.37577	N	0.002028	T	0.08980	0.0222	N	0.05177	-0.1	0.80722	D	1	B	0.14012	0.009	B	0.17433	0.018	T	0.14671	-1.0464	10	0.09843	T	0.71	.	11.984	0.53135	0.0:0.1753:0.8246:0.0	.	1109	P98198-3	.	I	1109	ENSP00000357475:V1109I	ENSP00000357475:V1109I	V	+	1	0	ATP8B2	152587570	0.995000	0.38212	0.981000	0.43875	0.778000	0.44026	2.371000	0.44248	2.349000	0.79799	0.491000	0.48974	GTC		0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2		NM_020452		11	31	0	0	0	0.010729	0	11	31		
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:158650498C>G	ENST00000368147.4	-	5	733	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	185					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(553-555)GAG>CAG		spectrin, alpha, erythrocytic 1							93.0	91.0	92.0					1																	158650498		1885	4123	6008	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650498C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.553G>C	1.37:g.158650498C>G	ENSP00000357129:p.Glu185Gln						p.E185Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	752	-	all_hematologic(112;0.0378)		185			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.553G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382283	0.61845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.07	4.16	0.48862	.	0.000000	0.32640	N	0.005834	T	0.56352	0.1979	M	0.90425	3.115	0.45704	D	0.998619	D	0.76494	0.999	D	0.76575	0.988	T	0.65755	-0.6091	10	0.54805	T	0.06	.	12.438	0.55610	0.0:0.9187:0.0:0.0813	.	185	P02549	SPTA1_HUMAN	Q	185	ENSP00000357130:E185Q;ENSP00000357129:E185Q	ENSP00000357129:E185Q	E	-	1	0	SPTA1	156917122	1.000000	0.71417	0.866000	0.34008	0.298000	0.27526	5.360000	0.66086	1.368000	0.46115	0.650000	0.86243	GAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		33	58	0	0	0	0.005524	0	33	58		
KIFAP3	22920	broad.mit.edu	37	1	169923248	169923248	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:169923248C>T	ENST00000361580.2	-	19	2404	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	KIFAP3_ENST00000367765.1_Missense_Mutation_p.G686E|KIFAP3_ENST00000367767.1_Missense_Mutation_p.G682E|KIFAP3_ENST00000538366.1_Missense_Mutation_p.G648E|KIFAP3_ENST00000540905.1_Missense_Mutation_p.G428E	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	726					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCAATTAATCCATCTAGAAA	0.343																																						uc001ggv.2		NaN																	0				skin(1)	1						c.(2176-2178)GGA>GAA		kinesin-associated protein 3							93.0	101.0	98.0					1																	169923248		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169923248C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2177G>A	1.37:g.169923248C>T	ENSP00000354560:p.Gly726Glu					KIFAP3_uc010plx.1_Missense_Mutation_p.G428E	p.G726E	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			19	2448	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		726					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2177G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157088	0.78114	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.45668	0.92;0.93;0.93;0.92;0.89	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.20140	-1.0284	9	.	.	.	-17.3217	13.6823	0.62493	0.0:0.9247:0.0:0.0753	.	726	Q92845	KIFA3_HUMAN	E	726;686;682;428;648	ENSP00000354560:G726E;ENSP00000356739:G686E;ENSP00000356741:G682E;ENSP00000442712:G428E;ENSP00000444622:G648E	.	G	-	2	0	KIFAP3	168189872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.443000	0.52907	1.362000	0.46000	0.650000	0.86243	GGA		0.343	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1		NM_014970		30	96	0	0	0	0.007291	0	30	96		
CFHR2	3080	broad.mit.edu	37	1	196887480	196887480	+	Intron	SNP	C	C	G	rs80010185	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196887480C>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.L314V|CFHR4_ENST00000367418.2_Missense_Mutation_p.L314V|CFHR4_ENST00000367416.2_Missense_Mutation_p.L560V|CFHR4_ENST00000608469.1_Missense_Mutation_p.L184V			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TACATCAGTTCTATCATTTCA	0.363																																						uc001gto.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(940-942)CTA>GTA		complement factor H-related 4 precursor							186.0	191.0	189.0					1																	196887480		2202	4300	6502	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196887480C>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31105C>G	1.37:g.196887480C>G						CFHR4_uc009wyy.2_Missense_Mutation_p.L560V|CFHR4_uc001gtp.2_Missense_Mutation_p.L561V	p.L314V	NM_006684	NP_006675	Q92496	FHR4_HUMAN			6	1009	+			314			Sushi 5.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.940C>G		.	.	.	.	.	.	.	.	.	.	C	7.981	0.751254	0.15778	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.82984	-1.67;-1.67;-1.67	2.59	1.6	0.23607	Complement control module (1);	.	.	.	.	T	0.66636	0.2809	N	0.08118	0	0.09310	N	1	P;P;B	0.45531	0.86;0.826;0.133	P;B;B	0.45232	0.474;0.187;0.049	T	0.56661	-0.7942	9	0.16896	T	0.51	.	7.5236	0.27643	0.0:0.729:0.2709:0.0	.	560;561;314	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	V	560;314;314;314	ENSP00000356386:L560V;ENSP00000356388:L314V;ENSP00000251424:L314V	ENSP00000251424:L314V	L	+	1	2	CFHR4	195154103	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.617000	0.05584	0.330000	0.23485	0.436000	0.28706	CTA		0.363	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005666		33	241	0	0	0	0.00874	0	33	241		
CFHR2	3080	broad.mit.edu	37	1	196918666	196918666	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196918666C>T	ENST00000367415.5	+	2	240	c.140C>T	c.(139-141)aCa>aTa	p.T47I	CFHR2_ENST00000367421.3_Missense_Mutation_p.T47I|CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.T47I	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	47	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CAAGTTCCTACAGGGGAAGTT	0.358																																						uc001gtq.1		NaN																	0				skin(2)|ovary(1)	3						c.(139-141)ACA>ATA		H factor (complement)-like 3 precursor							82.0	80.0	80.0					1																	196918666		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918666C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.140C>T	1.37:g.196918666C>T	ENSP00000356385:p.Thr47Ile					CFHR2_uc001gtr.1_Intron	p.T47I	NM_005666	NP_005657	P36980	FHR2_HUMAN			2	217	+			47			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.140C>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807897	0.00606	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.62941	-0.01;-0.01	3.33	-1.75	0.08031	Complement control module (2);Sushi/SCR/CCP (2);	3.202570	0.01368	N	0.012496	T	0.22166	0.0534	N	0.00182	-1.905	0.09310	N	1	B	0.27013	0.166	B	0.24848	0.056	T	0.10989	-1.0606	10	0.18710	T	0.47	.	3.5936	0.07998	0.0:0.3192:0.312:0.3688	.	47	P36980	FHR2_HUMAN	I	47	ENSP00000356391:T47I;ENSP00000356385:T47I	ENSP00000356385:T47I	T	+	2	0	CFHR2	195185289	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.003000	0.12901	-0.478000	0.06823	0.508000	0.49915	ACA		0.358	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2		NM_005666		11	70	0	0	0	0.008291	0	11	70		
TMEM206	55248	broad.mit.edu	37	1	212553312	212553312	+	Missense_Mutation	SNP	C	C	T	rs141387916		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:212553312C>T	ENST00000261455.4	-	5	700	c.563G>A	c.(562-564)cGc>cAc	p.R188H	TMEM206_ENST00000535273.1_Missense_Mutation_p.R249H	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	188						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTTGTTCAGGCGGAACTGGAG	0.522																																						uc001hjc.3		NaN																	0				breast(1)	1						c.(562-564)CGC>CAC		transmembrane protein 206		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	100.0	99.0		746,563	5.6	1.0	1	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	TMEM206	NM_001198862.1,NM_018252.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	249/412,188/351	212553312	1,13005	2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212553312C>T	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.563G>A	1.37:g.212553312C>T	ENSP00000261455:p.Arg188His					TMEM206_uc010pte.1_Missense_Mutation_p.R249H	p.R188H	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	5	731	-			188			Extracellular (Potential).		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.563G>A	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464839	0.43839	2.27E-4	0.0	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	5.57	0.84162	.	0.228481	0.53938	N	0.000054	T	0.19525	0.0469	N	0.08118	0	0.31057	N	0.714523	B;B	0.26041	0.14;0.006	B;B	0.14578	0.011;0.001	T	0.11743	-1.0575	9	0.23891	T	0.37	-8.6144	7.3171	0.26507	0.0:0.7976:0.0:0.2024	.	249;188	B7Z4D6;Q9H813	.;TM206_HUMAN	H	188;249	.	ENSP00000261455:R188H	R	-	2	0	TMEM206	210619935	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.411000	0.59781	2.635000	0.89317	0.650000	0.86243	CGC		0.522	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1		NM_018252		22	90	0	0	0	0.002299	0	22	90		
GNG4	2786	broad.mit.edu	37	1	235715501	235715501	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:235715501C>T	ENST00000366598.4	-	3	351	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GNG4_ENST00000366597.1_Missense_Mutation_p.E46K|GNG4_ENST00000450593.1_Missense_Mutation_p.E46K|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000391854.2_Missense_Mutation_p.E46K			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	46					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			ACGTGAGCTTCACAGTAGGCC	0.542																																						uc001hxe.3		NaN																	0					0						c.(136-138)GAA>AAA		guanine nucleotide binding protein (G protein),							120.0	117.0	118.0					1																	235715501		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235715501C>T	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.136G>A	1.37:g.235715501C>T	ENSP00000355557:p.Glu46Lys					GNG4_uc009xfz.2_Missense_Mutation_p.E46K|GNG4_uc001hxh.3_Missense_Mutation_p.E46K	p.E46K	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		4	590	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	46						Missense_Mutation	SNP	ENST00000366598.4	37	c.136G>A	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493974	0.64186	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.75	4.75	0.60458	G-protein gamma domain (5);	0.057405	0.64402	D	0.000002	T	0.26122	0.0637	.	.	.	0.52099	D	0.999949	B	0.31459	0.324	B	0.31390	0.129	T	0.05321	-1.0892	9	0.44086	T	0.13	-10.9083	17.9226	0.88972	0.0:1.0:0.0:0.0	.	46	P50150	GBG4_HUMAN	K	46	ENSP00000398629:E46K;ENSP00000375727:E46K;ENSP00000355557:E46K;ENSP00000355556:E46K	ENSP00000355556:E46K	E	-	1	0	GNG4	233782124	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.627000	0.83176	2.455000	0.83008	0.561000	0.74099	GAA		0.542	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1		NM_004485		82	69	0	0	0	0.00361	0	82	69		
CHML	1122	broad.mit.edu	37	1	241798859	241798859	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:241798859T>G	ENST00000366553.1	-	1	373	c.210A>C	c.(208-210)gaA>gaC	p.E70D	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	70					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTACTTTCTTCCCCAATGT	0.418																																						uc001hzd.2		NaN																	0				ovary(4)|skin(2)	6						c.(208-210)GAA>GAC		choroideremia-like Rab escort protein 2							228.0	217.0	220.0					1																	241798859		2203	4300	6503	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798859T>G	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.210A>C	1.37:g.241798859T>G	ENSP00000355511:p.Glu70Asp					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.E70D	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	374	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	70					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.210A>C	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	3.098	-0.185443	0.06340	.	.	ENSG00000203668	ENST00000366553	T	0.59638	0.25	4.77	-3.86	0.04230	.	0.611375	0.17605	N	0.168288	T	0.33469	0.0864	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.08330	-1.0727	9	0.44086	T	0.13	-4.9656	1.7679	0.03006	0.1368:0.3468:0.1636:0.3527	.	70	P26374	RAE2_HUMAN	D	70	ENSP00000355511:E70D	ENSP00000355511:E70D	E	-	3	2	CHML	239865482	0.194000	0.23325	0.001000	0.08648	0.256000	0.26092	-0.632000	0.05489	-0.835000	0.04234	-0.263000	0.10527	GAA		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1		NM_001821		60	203	0	0	0	0.00361	0	60	203		
TRIM58	25893	broad.mit.edu	37	1	248023982	248023982	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248023982G>A	ENST00000366481.3	+	2	532	c.484G>A	c.(484-486)Gcc>Acc	p.A162T		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACTCAGGAGGCCAACGTGGG	0.483																																						uc001ido.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(484-486)GCC>ACC		tripartite motif-containing 58							109.0	107.0	107.0					1																	248023982		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023982G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.484G>A	1.37:g.248023982G>A	ENSP00000355437:p.Ala162Thr						p.A162T	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	532	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	162					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.484G>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	4.678	0.126013	0.08931	.	.	ENSG00000162722	ENST00000366481	T	0.61392	0.11	4.02	1.11	0.20524	.	0.266002	0.26895	N	0.021953	T	0.44030	0.1274	L	0.48260	1.515	0.24727	N	0.993113	B	0.32620	0.378	B	0.32677	0.15	T	0.31916	-0.9926	10	0.45353	T	0.12	.	5.7235	0.18000	0.345:0.0:0.655:0.0	.	162	Q8NG06	TRI58_HUMAN	T	162	ENSP00000355437:A162T	ENSP00000355437:A162T	A	+	1	0	TRIM58	246090605	0.116000	0.22171	0.927000	0.36925	0.023000	0.10783	0.113000	0.15499	0.467000	0.27218	-0.140000	0.14226	GCC		0.483	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431		9	47	0	0	0	0.008291	0	9	47		
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248737333G>C	ENST00000328782.2	-	1	747	c.726C>G	c.(724-726)gcC>gcG	p.A242A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567																																						uc001iep.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(724-726)GCC>GCG		olfactory receptor, family 2, subfamily T,							107.0	120.0	115.0					1																	248737333		2176	4300	6476	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737333G>C	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.726C>G	1.37:g.248737333G>C							p.A242A	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	726	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		242			Helical; Name=6; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.726C>G	CCDS31120.1																																																																																				0.567	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1		NM_001001821		26	140	0	0	0	0.008361	0	26	140		
HSPA14	51182	broad.mit.edu	37	10	14891755	14891755	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:14891755G>A	ENST00000378372.3	+	6	651	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	138					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGATGCAAATGATGTAGTTAT	0.338																																						uc001inf.2		NaN																	0				ovary(2)|breast(2)|lung(1)	5						c.(412-414)GAT>AAT		heat shock 70kDa protein 14 isoform 1							116.0	118.0	117.0					10																	14891755		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891755G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.412G>A	10.37:g.14891755G>A	ENSP00000367623:p.Asp138Asn					HSPA14_uc010qbw.1_Missense_Mutation_p.D138N	p.D138N	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			6	553	+			138					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.412G>A	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577335	0.45902	.	.	ENSG00000187522	ENST00000378372	T	0.04083	3.71	5.73	4.83	0.62350	.	0.093852	0.64402	N	0.000001	T	0.03695	0.0105	N	0.25201	0.72	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.17930	-1.0353	10	0.02654	T	1	-19.3694	14.5416	0.67999	0.07:0.0:0.93:0.0	.	138	Q0VDF9	HSP7E_HUMAN	N	138	ENSP00000367623:D138N	ENSP00000367623:D138N	D	+	1	0	HSPA14	14931761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.311000	0.72835	1.406000	0.46857	0.650000	0.86243	GAT		0.338	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1		NM_016299		13	87	0	0	0	0.007413	0	13	87		
OIT3	170392	broad.mit.edu	37	10	74690368	74690368	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:74690368C>T	ENST00000334011.5	+	8	1658	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	480	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGGTCCCTGTCTTCAAGTTTG	0.438																																					Colon(7;19 345 13446 17537)	uc001jte.1		NaN																	0				ovary(2)	2						c.(1438-1440)GTC>GTT		oncoprotein-induced transcript 3 precursor							183.0	181.0	182.0					10																	74690368		2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74690368C>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1440C>T	10.37:g.74690368C>T						OIT3_uc009xqs.1_RNA	p.V480V	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			8	1658	+	Prostate(51;0.0198)		480			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.1440C>T	CCDS7318.1																																																																																				0.438	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1		NM_152635		60	131	0	0	0	0.00361	0	60	131		
MGEA5	10724	broad.mit.edu	37	10	103560119	103560119	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:103560119A>T	ENST00000361464.3	-	8	1470	c.1075T>A	c.(1075-1077)Tta>Ata	p.L359I	MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Missense_Mutation_p.L359I	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	359					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTTTCTAATTTTATCTGG	0.343																																						uc001ktv.2		NaN																	0				ovary(2)|skin(1)	3						c.(1075-1077)TTA>ATA		meningioma expressed antigen 5 (hyaluronidase)							129.0	111.0	117.0					10																	103560119		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103560119A>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1075T>A	10.37:g.103560119A>T	ENSP00000354850:p.Leu359Ile					MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Missense_Mutation_p.L359I|MGEA5_uc009xwt.2_Missense_Mutation_p.L122I	p.L359I	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	8	1518	-		Colorectal(252;0.207)	359					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.1075T>A	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.605888	0.66445	.	.	ENSG00000198408	ENST00000361464;ENST00000370094	T;T	0.34859	1.36;1.34	5.93	3.63	0.41609	.	0.070762	0.64402	D	0.000020	T	0.50973	0.1647	M	0.65975	2.015	0.80722	D	1	D;D	0.63046	0.992;0.986	D;D	0.65323	0.921;0.934	T	0.50634	-0.8805	10	0.59425	D	0.04	-9.16	7.535	0.27706	0.6779:0.0:0.3221:0.0	.	359;359	O60502-3;O60502	.;NCOAT_HUMAN	I	359	ENSP00000354850:L359I;ENSP00000359112:L359I	ENSP00000354850:L359I	L	-	1	2	MGEA5	103550109	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.823000	0.39062	1.079000	0.41038	0.533000	0.62120	TTA		0.343	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215		19	45	0	0	0	0.010504	0	19	45		
DOCK1	1793	broad.mit.edu	37	10	128925983	128925983	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:128925983C>T	ENST00000280333.6	+	27	2848	c.2739C>T	c.(2737-2739)acC>acT	p.T913T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	913					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCTCCGGACCGTGAACCGAA	0.483																																						uc001ljt.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(2737-2739)ACC>ACT		dedicator of cytokinesis 1							128.0	115.0	119.0					10																	128925983		1926	4113	6039	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128925983C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2739C>T	10.37:g.128925983C>T						DOCK1_uc010qun.1_Silent_p.T934T	p.T913T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	27	2803	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	913					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2739C>T																																																																																					0.483	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380		4	68	0	0	0	0.001984	0	4	68		
EXT2	2132	broad.mit.edu	37	11	44146519	44146519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:44146519C>G	ENST00000343631.3	+	5	1053	c.924C>G	c.(922-924)taC>taG	p.Y308*	EXT2_ENST00000395673.3_Nonsense_Mutation_p.Y341*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.Y308*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.Y308*			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	308					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCTTCGATTACCCACAGGTGC	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NaN	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(922-924)TAC>TAG		exostosin 2 isoform 2							83.0	76.0	78.0					11																	44146519		2203	4299	6502	SO:0001587	stop_gained	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146519C>G		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.924C>G	11.37:g.44146519C>G	ENSP00000342656:p.Tyr308*					EXT2_uc010rfo.1_Nonsense_Mutation_p.Y336*|EXT2_uc001mxy.2_Nonsense_Mutation_p.Y321*|EXT2_uc009ykt.2_Nonsense_Mutation_p.Y308*|EXT2_uc001mya.2_Nonsense_Mutation_p.Y341*	p.Y308*	NM_207122	NP_997005	Q93063	EXT2_HUMAN			5	1258	+			308			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Nonsense_Mutation	SNP	ENST00000343631.3	37	c.924C>G	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	40	8.447199	0.98815	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	.	.	.	5.81	3.93	0.45458	.	0.056184	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8896	9.8235	0.40896	0.0:0.753:0.0:0.247	.	.	.	.	X	308;308;341;308	.	ENSP00000342656:Y308X	Y	+	3	2	EXT2	44103095	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.463000	0.35277	1.466000	0.48025	0.655000	0.94253	TAC		0.488	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1		NM_000401		17	38	0	0	0	0.007413	0	17	38		
OR4C46	119749	broad.mit.edu	37	11	51516060	51516060	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:51516060C>A	ENST00000328188.1	+	1	779	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAGACCTGCAGCTACTTTA	0.423																																						uc010ric.1		NaN																	0				ovary(1)	1						c.(778-780)GCA>GAA		olfactory receptor, family 4, subfamily C,							97.0	82.0	87.0					11																	51516060		2201	4293	6494	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516060C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.779C>A	11.37:g.51516060C>A	ENSP00000329056:p.Ala260Glu						p.A260E	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	779	+			260			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.779C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	2.226	-0.377253	0.05000	.	.	ENSG00000185926	ENST00000328188	T	0.00115	8.71	2.47	0.468	0.16732	GPCR, rhodopsin-like superfamily (1);	0.153759	0.30126	N	0.010360	T	0.00109	0.0003	N	0.25286	0.73	0.09310	N	1	B	0.29590	0.25	B	0.38755	0.281	T	0.14699	-1.0463	10	0.41790	T	0.15	.	6.1918	0.20528	0.0:0.7166:0.0:0.2834	.	260	A6NHA9	O4C46_HUMAN	E	260	ENSP00000329056:A260E	ENSP00000329056:A260E	A	+	2	0	OR4C46	51372636	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.036000	0.01421	0.010000	0.14839	0.121000	0.15741	GCA		0.423	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1		NM_001004703		19	49	1	0	3.17567e-06	0.008361	3.27979e-06	19	49		
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:64029989G>A	ENST00000540288.1	+	18	2252	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E650K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E717K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	717	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCTTCACTGAGGTCATCGT	0.647																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2149-2151)GAG>AAG		phospholipase C beta 3							67.0	72.0	70.0					11																	64029989		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64029989G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2149G>A	11.37:g.64029989G>A	ENSP00000443631:p.Glu717Lys					PLCB3_uc009ypg.1_Missense_Mutation_p.E717K|PLCB3_uc009yph.1_Missense_Mutation_p.E650K|PLCB3_uc009ypi.2_Missense_Mutation_p.E717K	p.E717K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			18	2149	+			717			C2.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2149G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613488	0.87359	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.24908	1.96;1.96;1.83	5.36	5.36	0.76844	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.154653	0.56097	D	0.000026	T	0.42607	0.1210	M	0.75150	2.29	0.49915	D	0.999836	D;P	0.57257	0.979;0.808	P;P	0.51516	0.672;0.524	T	0.27872	-1.0061	10	0.35671	T	0.21	.	17.8548	0.88759	0.0:0.0:1.0:0.0	.	650;717	G5E960;Q01970	.;PLCB3_HUMAN	K	717;717;650	ENSP00000279230:E717K;ENSP00000443631:E717K;ENSP00000324660:E650K	ENSP00000279230:E717K	E	+	1	0	PLCB3	63786565	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.486000	0.73629	2.518000	0.84900	0.591000	0.81541	GAG		0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				17	35	0	0	0	0.00499	0	17	35		
SLCO1C1	53919	broad.mit.edu	37	12	20859006	20859006	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:20859006T>C	ENST00000266509.2	+	4	763	c.395T>C	c.(394-396)tTc>tCc	p.F132S	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F132S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.F132S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F132S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F14S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	132					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCTCAGTTCTTCATGGAGCAG	0.388																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(394-396)TTC>TCC		solute carrier organic anion transporter family,							197.0	193.0	194.0					12																	20859006		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20859006T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.395T>C	12.37:g.20859006T>C	ENSP00000266509:p.Phe132Ser					SLCO1C1_uc010sii.1_Missense_Mutation_p.F132S|SLCO1C1_uc010sij.1_Missense_Mutation_p.F132S|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.F132S|SLCO1C1_uc010sik.1_Missense_Mutation_p.F14S	p.F132S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			5	750	+	Esophageal squamous(101;0.149)		132			Helical; Name=3; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.395T>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503149	0.85176	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.110918	0.64402	D	0.000009	T	0.64516	0.2605	M	0.76574	2.34	0.46317	D	0.998986	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	D;D;D;D	0.85130	0.964;0.997;0.995;0.992	T	0.67569	-0.5637	10	0.54805	T	0.06	.	15.0736	0.72059	0.0:0.0:0.0:1.0	.	14;132;132;132	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	S	132;132;132;132;14	ENSP00000444149:F132S;ENSP00000438665:F132S;ENSP00000266509:F132S;ENSP00000370964:F132S;ENSP00000444527:F14S	ENSP00000266509:F132S	F	+	2	0	SLCO1C1	20750273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	2.142000	0.66516	0.533000	0.62120	TTC		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435		53	76	0	0	0	0.00361	0	53	76		
KIF21A	55605	broad.mit.edu	37	12	39730925	39730925	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:39730925C>A	ENST00000361418.5	-	17	2406	c.2391G>T	c.(2389-2391)caG>caT	p.Q797H	KIF21A_ENST00000395670.3_Missense_Mutation_p.Q797H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q784H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q784H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q784H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	797					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTTTTCAACTGAGCAATCT	0.333																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2389-2391)CAG>CAT		kinesin family member 21A							173.0	156.0	161.0					12																	39730925		2203	4299	6502	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39730925C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2391G>T	12.37:g.39730925C>A	ENSP00000354878:p.Gln797His					KIF21A_uc001rlw.2_Missense_Mutation_p.Q114H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q784H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q784H|KIF21A_uc010skl.1_Missense_Mutation_p.Q784H	p.Q797H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			17	2537	-		Lung NSC(34;0.179)|all_lung(34;0.213)	797					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2391G>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.156912|3.156912	0.57259|0.57259	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16|.	5.35|5.35	-5.32|-5.32	0.02722|0.02722	.|.	0.000000|.	0.51477|.	D|.	0.000099|.	T|T	0.74238|0.74238	0.3690|0.3690	M|M	0.79693|0.79693	2.465|2.465	0.34148|0.34148	D|D	0.667219|0.667219	D;D;D;D;D|.	0.71674|.	0.969;0.988;0.985;0.998;0.993|.	P;D;P;D;D|.	0.80764|.	0.742;0.984;0.88;0.994;0.916|.	T|T	0.78534|0.78534	-0.2167|-0.2167	10|5	0.87932|.	D|.	0|.	.|.	20.207|20.207	0.98280|0.98280	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	784;784;797;784;797|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	H|I	784;797;797;784;797;784|145	ENSP00000354851:Q784H;ENSP00000379029:Q797H;ENSP00000445606:Q784H;ENSP00000354878:Q797H;ENSP00000438075:Q784H|.	ENSP00000344501:Q797H|.	Q|S	-|-	3|2	2|0	KIF21A|KIF21A	38017192|38017192	0.435000|0.435000	0.25577|0.25577	0.460000|0.460000	0.27093|0.27093	0.960000|0.960000	0.62799|0.62799	-0.297000|-0.297000	0.08276|0.08276	-1.074000|-1.074000	0.03132|0.03132	-0.312000|-0.312000	0.09012|0.09012	CAG|AGT		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		108	45	1	0	2.55716e-62	0.00361	3.06859e-62	108	45		
SCAF11	9169	broad.mit.edu	37	12	46318787	46318787	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:46318787C>T	ENST00000369367.3	-	12	3863	c.3630G>A	c.(3628-3630)ccG>ccA	p.P1210P	SCAF11_ENST00000549162.1_Silent_p.P1018P|SCAF11_ENST00000465950.1_Silent_p.P895P|SCAF11_ENST00000419565.2_Silent_p.P1210P|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1210					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTCATTTGCGGTTGCATCA	0.378																																						uc001rox.2		NaN																	0					0						c.(3628-3630)CCG>CCA		splicing factor, arginine/serine-rich 2,							195.0	176.0	183.0					12																	46318787		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318787C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3630G>A	12.37:g.46318787C>T						SFRS2IP_uc001row.2_Silent_p.P895P	p.P1210P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	12	3917	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1210					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.3630G>A	CCDS8748.2																																																																																				0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719		18	50	0	0	0	0.012319	0	18	50		
CPSF6	11052	broad.mit.edu	37	12	69652373	69652373	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:69652373G>C	ENST00000435070.2	+	6	808	c.698G>C	c.(697-699)gGa>gCa	p.G233A	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.G270A	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	233	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTTTTAGCTGGACAGACTCCA	0.458																																						uc001sut.3		NaN																	0					0						c.(697-699)GGA>GCA		cleavage and polyadenylation specific factor 6,							58.0	57.0	57.0					12																	69652373		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652373G>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.698G>C	12.37:g.69652373G>C	ENSP00000391774:p.Gly233Ala					CPSF6_uc001suu.3_Missense_Mutation_p.G270A|CPSF6_uc010stk.1_5'UTR	p.G233A	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	808	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		233			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.698G>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567834	0.28003	.	.	ENSG00000111605	ENST00000435070;ENST00000266679	.	.	.	5.53	4.58	0.56647	.	0.158224	0.56097	D	0.000035	T	0.41213	0.1149	N	0.17082	0.46	0.80722	D	1	B;B	0.19935	0.04;0.013	B;B	0.17098	0.017;0.005	T	0.19910	-1.0291	8	.	.	.	-12.0928	16.197	0.82036	0.0:0.133:0.867:0.0	.	270;233	Q16630-2;Q16630	.;CPSF6_HUMAN	A	233;270	.	.	G	+	2	0	CPSF6	67938640	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.088000	0.76901	2.771000	0.95319	0.563000	0.77884	GGA		0.458	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1		NM_007007		22	32	0	0	0	0.004656	0	22	32		
DDX55	57696	broad.mit.edu	37	12	124104079	124104079	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:124104079C>T	ENST00000238146.4	+	13	1484	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	DDX55_ENST00000541259.1_3'UTR|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Silent_p.D447D|DDX55_ENST00000421670.3_Silent_p.D85D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	478						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGCCCGTGGACGTTAATACCG	0.443																																						uc001ufi.2		NaN																	0				ovary(1)	1						c.(1432-1434)GAC>GAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							106.0	104.0	104.0					12																	124104079		2203	4300	6503	SO:0001819	synonymous_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104079C>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1434C>T	12.37:g.124104079C>T						DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.D331D|DDX55_uc001ufl.2_Silent_p.D85D	p.D478D	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	13	1458	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		478					Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	c.1434C>T	CCDS9251.1																																																																																				0.443	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2				21	61	0	0	0	0.012319	0	21	61		
PCDH17	27253	broad.mit.edu	37	13	58207677	58207677	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:58207677G>T	ENST00000377918.3	+	1	1023	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTATCCCAGCCCACTGCAA	0.627																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(997-999)GCC>TCC		protocadherin 17 precursor							82.0	80.0	81.0					13																	58207677		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207677G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.997G>T	13.37:g.58207677G>T	ENSP00000367151:p.Ala333Ser					PCDH17_uc010aec.1_Missense_Mutation_p.A333S	p.A333S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1889	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	333			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.997G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523957	0.64747	.	.	ENSG00000118946	ENST00000377918	T	0.48201	0.82	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.152040	0.64402	D	0.000009	T	0.36248	0.0960	N	0.11284	0.12	0.40092	D	0.976269	P;P	0.46621	0.855;0.881	P;P	0.48921	0.46;0.595	T	0.16778	-1.0391	9	.	.	.	.	12.8315	0.57748	0.0746:0.0:0.9254:0.0	.	333;333	O14917-2;O14917	.;PCD17_HUMAN	S	333	ENSP00000367151:A333S	.	A	+	1	0	PCDH17	57105678	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.061000	0.89467	2.640000	0.89533	0.650000	0.86243	GCC		0.627	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		21	51	1	0	1.64293e-13	0.00333	1.83194e-13	21	51		
GPC5	2262	broad.mit.edu	37	13	92345804	92345804	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:92345804A>T	ENST00000377067.3	+	3	1061	c.689A>T	c.(688-690)aAt>aTt	p.N230I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	230					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGGCACTCAATCTGGGCATT	0.542																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(688-690)AAT>ATT		glypican 5 precursor							51.0	46.0	48.0					13																	92345804		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345804A>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.689A>T	13.37:g.92345804A>T	ENSP00000366267:p.Asn230Ile						p.N230I	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1055	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	230					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.689A>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930568	0.73327	.	.	ENSG00000179399	ENST00000377067	T	0.52754	0.65	5.39	5.39	0.77823	.	0.159588	0.56097	D	0.000035	T	0.67316	0.2880	M	0.78637	2.42	0.37646	D	0.922229	D	0.58620	0.983	P	0.62885	0.908	T	0.75900	-0.3154	10	0.87932	D	0	-16.2733	14.5798	0.68278	1.0:0.0:0.0:0.0	.	230	P78333	GPC5_HUMAN	I	230	ENSP00000366267:N230I	ENSP00000366267:N230I	N	+	2	0	GPC5	91143805	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.134000	0.71689	2.033000	0.60031	0.482000	0.46254	AAT		0.542	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		27	6	0	0	0	0.003954	0	27	6		
AKAP6	9472	broad.mit.edu	37	14	33291375	33291375	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:33291375C>T	ENST00000280979.4	+	13	4526	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1452					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATACCCCTGACTGTTTGGGAG	0.363																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4354-4356)GAC>GAT		A-kinase anchor protein 6							66.0	65.0	65.0					14																	33291375		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291375C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4356C>T	14.37:g.33291375C>T							p.D1452D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4526	+	Breast(36;0.0388)|Prostate(35;0.15)		1452					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4356C>T	CCDS9644.1																																																																																				0.363	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		24	19	0	0	0	0.003954	0	24	19		
DACT1	51339	broad.mit.edu	37	14	59113073	59113073	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:59113073G>A	ENST00000335867.4	+	4	1756	c.1732G>A	c.(1732-1734)Gtc>Atc	p.V578I	DACT1_ENST00000541264.2_Missense_Mutation_p.V297I|DACT1_ENST00000395153.3_Missense_Mutation_p.V541I|DACT1_ENST00000556859.1_Missense_Mutation_p.V297I			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	578					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.V578I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GAACATGGGCGTCGTGAAGAA	0.657																																						uc001xdw.2		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1732-1734)GTC>ATC		dapper 1 isoform 1							22.0	25.0	24.0					14																	59113073		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113073G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1732G>A	14.37:g.59113073G>A	ENSP00000337439:p.Val578Ile					DACT1_uc010trv.1_Missense_Mutation_p.V297I|DACT1_uc001xdx.2_Missense_Mutation_p.V541I|DACT1_uc010trw.1_Missense_Mutation_p.V297I	p.V578I	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1896	+			578					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1732G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771573	0.02951	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.07	1.9	0.25705	.	1.019550	0.07837	N	0.962339	T	0.14830	0.0358	N	0.01800	-0.715	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27365	-1.0076	10	0.06236	T	0.91	-0.8536	6.1939	0.20540	0.5418:0.0:0.4582:0.0	.	541;578	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	I	297;297;541;578;297	ENSP00000451598:V297I;ENSP00000378581:V297I;ENSP00000378582:V541I;ENSP00000337439:V578I;ENSP00000442850:V297I	ENSP00000337439:V578I	V	+	1	0	DACT1	58182826	0.016000	0.18221	0.000000	0.03702	0.030000	0.12068	2.318000	0.43779	0.461000	0.27071	0.563000	0.77884	GTC		0.657	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1		NM_016651		7	19	0	0	0	0.00308	0	7	19		
FMN1	342184	broad.mit.edu	37	15	33091032	33091032	+	Missense_Mutation	SNP	C	C	T	rs375921747		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:33091032C>T	ENST00000559047.1	-	16	4102	c.4103G>A	c.(4102-4104)cGg>cAg	p.R1368Q	FMN1_ENST00000334528.9_Missense_Mutation_p.R1145Q|FMN1_ENST00000561249.1_Missense_Mutation_p.R1270Q			Q68DA7	FMN1_HUMAN	formin 1	1368	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTACTCTCCCGTTTCCAAAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001					uc001zhf.3		NaN																	0				ovary(1)	1						c.(3433-3435)CGG>CAG		formin 1		C	GLN/ARG	0,3684		0,0,1842	115.0	104.0	107.0		3434	5.2	1.0	15		107	1,8199		0,1,4099	no	missense	FMN1	NM_001103184.2	43	0,1,5941	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1145/1197	33091032	1,11883	1842	4100	5942	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33091032C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4103G>A	15.37:g.33091032C>T	ENSP00000454047:p.Arg1368Gln						p.R1145Q	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	15	3434	-		all_lung(180;1.14e-07)	1368			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3434G>A		.	.	.	.	.	.	.	.	.	.	C	19.98	3.927366	0.73327	0.0	1.22E-4	ENSG00000248905	ENST00000334528	T	0.63096	-0.02	6.08	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.67397	2.05	.	.	.	D	0.89917	1.0	D	0.74348	0.983	T	0.81061	-0.1103	9	0.56958	D	0.05	.	15.2774	0.73753	0.0:0.9329:0.0:0.0671	.	1145	Q68DA7-5	.	Q	1145	ENSP00000333950:R1145Q	ENSP00000333950:R1145Q	R	-	2	0	FMN1	30878324	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.427000	0.80284	1.571000	0.49722	0.655000	0.94253	CGG		0.408	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		11	14	0	0	0	0.001368	0	11	14		
COX5A	9377	broad.mit.edu	37	15	75221462	75221462	+	Missense_Mutation	SNP	C	C	T	rs150174803		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:75221462C>T	ENST00000322347.6	-	2	365	c.212G>A	c.(211-213)cGt>cAt	p.R71H	COX5A_ENST00000568783.1_Missense_Mutation_p.R71H|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000564811.1_Missense_Mutation_p.R71H|COX5A_ENST00000562233.1_Missense_Mutation_p.R71H	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	71					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						ATTACCTTTACGCAATTCCCA	0.413																																						uc002azi.3		NaN																	0					0						c.(211-213)CGT>CAT		cytochrome c oxidase subunit Va precursor		C	HIS/ARG	0,4394		0,0,2197	140.0	129.0	132.0		212	4.8	1.0	15	dbSNP_134	132	2,8588	2.2+/-6.3	0,2,4293	yes	missense	COX5A	NM_004255.3	29	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	71/151	75221462	2,12982	2197	4295	6492	SO:0001583	missense	9377				respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding	g.chr15:75221462C>T	M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.212G>A	15.37:g.75221462C>T	ENSP00000317780:p.Arg71His						p.R71H	NM_004255	NP_004246	P20674	COX5A_HUMAN			2	352	-			71					P30045|Q8TB65	Missense_Mutation	SNP	ENST00000322347.6	37	c.212G>A	CCDS10273.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.03	3.006339	0.54361	0.0	2.33E-4	ENSG00000178741	ENST00000322347	.	.	.	5.74	4.79	0.61399	.	0.048076	0.85682	D	0.000000	T	0.80292	0.4596	M	0.88310	2.945	0.53688	D	0.999971	D	0.76494	0.999	D	0.66602	0.945	D	0.83900	0.0289	9	0.87932	D	0	-6.7134	12.5605	0.56277	0.0:0.9148:0.0:0.0852	.	71	P20674	COX5A_HUMAN	H	71	.	ENSP00000317780:R71H	R	-	2	0	COX5A	73008515	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.455000	0.60075	1.345000	0.45676	-0.355000	0.07637	CGT		0.413	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286417.1		NM_004255		48	72	0	0	0	0.00361	0	48	72		
CRAMP1L	57585	broad.mit.edu	37	16	1706030	1706030	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:1706030G>T	ENST00000397412.3	+	10	1371	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.V421V|CRAMP1L_ENST00000293925.5_Silent_p.V424V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	424						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TCTGCACAGTGCACTGGCAGG	0.667																																						uc010uvh.1		NaN																	0					0						c.(1270-1272)GTG>GTT		Crm, cramped-like							18.0	22.0	20.0					16																	1706030		2124	4224	6348	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1706030G>T	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1272G>T	16.37:g.1706030G>T						CRAMP1L_uc002cmf.2_Intron	p.V424V	NM_020825	NP_065876	Q96RY5	CRML_HUMAN			9	1272	+			424					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.1272G>T	CCDS10440.2																																																																																				0.667	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4				11	6	1	0	2.27111e-07	0.001368	2.38467e-07	11	6		
PRSS36	146547	broad.mit.edu	37	16	31150574	31150574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:31150574G>A	ENST00000268281.4	-	15	2511	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	PRSS36_ENST00000569305.1_Missense_Mutation_p.S813F|PRSS36_ENST00000418068.2_Missense_Mutation_p.S715F	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	818						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGTGTGGGGAGCCACTGGG	0.632																																						uc002ebd.2		NaN																	0				ovary(1)	1						c.(2452-2454)TCC>TTC		protease, serine, 36 precursor							33.0	35.0	35.0					16																	31150574		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31150574G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2453C>T	16.37:g.31150574G>A	ENSP00000268281:p.Ser818Phe					PRSS36_uc010vff.1_Missense_Mutation_p.S593F|PRSS36_uc010vfg.1_Missense_Mutation_p.S813F|PRSS36_uc010vfh.1_Missense_Mutation_p.S715F	p.S818F	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			15	2512	-			818					A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2453C>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187427	0.21870	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.92397	-2.82;-3.03	5.83	0.126	0.14722	.	.	.	.	.	T	0.81394	0.4813	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23377	0.084;0.001;0.001	B;B;B	0.19391	0.025;0.002;0.002	T	0.69371	-0.5163	9	0.48119	T	0.1	.	3.5246	0.07755	0.2595:0.0:0.4279:0.3126	.	715;813;818	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	F	818;715	ENSP00000268281:S818F;ENSP00000407160:S715F	ENSP00000268281:S818F	S	-	2	0	PRSS36	31058075	0.034000	0.19679	0.615000	0.29064	0.200000	0.23975	0.465000	0.22004	0.061000	0.16311	0.561000	0.74099	TCC		0.632	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1		NM_173502		10	61	0	0	0	0.001368	0	10	61		
CDH16	1014	broad.mit.edu	37	16	66948291	66948291	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:66948291A>G	ENST00000299752.4	-	7	801	c.608T>C	c.(607-609)cTg>cCg	p.L203P	CDH16_ENST00000570262.1_Missense_Mutation_p.L123P|CDH16_ENST00000394055.3_Missense_Mutation_p.L203P|CDH16_ENST00000565796.1_Missense_Mutation_p.L203P|CDH16_ENST00000568632.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTCCTCTCCAGGGCGTGGTC	0.607																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(607-609)CTG>CCG		cadherin 16 precursor							75.0	61.0	66.0					16																	66948291		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66948291A>G	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.608T>C	16.37:g.66948291A>G	ENSP00000299752:p.Leu203Pro					CDH16_uc010cdy.2_Missense_Mutation_p.L203P|CDH16_uc002eqm.2_Intron	p.L203P	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	7	681	-		Ovarian(137;0.0563)	203			Extracellular (Potential).|Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.608T>C	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.427132	0.25726	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51574	0.7;0.7	4.33	0.74	0.18330	Cadherin (4);Cadherin-like (1);	0.531074	0.17714	N	0.164500	T	0.46367	0.1389	L	0.45137	1.4	0.21527	N	0.999653	P;D	0.55172	0.925;0.97	B;P	0.55455	0.387;0.776	T	0.29243	-1.0018	10	0.31617	T	0.26	-1.4808	6.4768	0.22041	0.6842:0.0:0.3158:0.0	.	203;203	O75309-2;O75309	.;CAD16_HUMAN	P	203;203;167	ENSP00000377619:L203P;ENSP00000299752:L203P	ENSP00000299752:L203P	L	-	2	0	CDH16	65505792	0.000000	0.05858	0.006000	0.13384	0.082000	0.17680	0.460000	0.21924	0.233000	0.21120	0.459000	0.35465	CTG		0.607	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		25	7	0	0	0	0.00333	0	25	7		
PKD1L2	114780	broad.mit.edu	37	16	81173269	81173269	+	RNA	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:81173269G>A	ENST00000525539.1	-	0	5465				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCCACCAGGATGCACCACC	0.647																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(5464-5466)ATC>ATT		polycystin 1-like 2 isoform a							15.0	18.0	17.0					16																	81173269		2026	4161	6187			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81173269G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81173269G>A						PKD1L2_uc002fgg.1_RNA	p.I1822I	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			33	5466	-			1822			Helical; (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.5466C>T																																																																																					0.647	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				5	2	0	0	0	0.001168	0	5	2		
YBX2	51087	broad.mit.edu	37	17	7193038	7193038	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7193038G>A	ENST00000007699.5	-	7	918	c.855C>T	c.(853-855)ttC>ttT	p.F285F	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	285	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCCTGGGGCGGAAAGGCCTAA	0.672																																						uc002gfq.2		NaN																	0					0						c.(853-855)TTC>TTT		Y box binding protein 2							59.0	52.0	54.0					17																	7193038		2203	4299	6502	SO:0001819	synonymous_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193038G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.855C>T	17.37:g.7193038G>A							p.F285F	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			7	912	-			285			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Silent	SNP	ENST00000007699.5	37	c.855C>T	CCDS11098.1																																																																																				0.672	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2		NM_015982		56	27	0	0	0	0.00361	0	56	27		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		51	20	0	0	0	0.00361	0	51	20		
LHX1	3975	broad.mit.edu	37	17	35300098	35300098	+	Silent	SNP	G	G	A	rs375453089		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:35300098G>A	ENST00000254457.5	+	5	2302	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	297					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACTTCTTCCCGCAAGGCCCCC	0.731																																						uc002hnh.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(889-891)CCG>CCA		LIM homeobox protein 1							15.0	17.0	16.0					17																	35300098		2199	4296	6495	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35300098G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.891G>A	17.37:g.35300098G>A							p.P297P	NM_005568	NP_005559	P48742	LHX1_HUMAN			5	1887	+		Breast(25;0.00607)	297					Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.891G>A	CCDS11316.1																																																																																				0.731	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3		NM_005568		6	5	0	0	0	0.001984	0	6	5		
KCTD2	23510	broad.mit.edu	37	17	73055695	73055695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:73055695G>T	ENST00000322444.6	+	4	637	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	KCTD2_ENST00000581589.1_Nonsense_Mutation_p.E12*	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	211					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTGGAAATTCGAACAGGTACA	0.537																																						uc002jmp.2		NaN																	0					0						c.(631-633)GAA>TAA		potassium channel tetramerisation domain							97.0	78.0	85.0					17																	73055695		2203	4300	6503	SO:0001587	stop_gained	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055695G>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.631G>T	17.37:g.73055695G>T	ENSP00000312814:p.Glu211*					KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	p.E211*	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			4	698	+	all_lung(278;0.226)		211						Nonsense_Mutation	SNP	ENST00000322444.6	37	c.631G>T	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	G	37	6.185627	0.97357	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	X	211;193	.	ENSP00000312814:E211X	E	+	1	0	KCTD2	70567290	1.000000	0.71417	0.990000	0.47175	0.753000	0.42808	9.766000	0.98957	2.724000	0.93272	0.563000	0.77884	GAA		0.537	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1				13	15	1	0	3.27435e-08	0.00245	3.49634e-08	13	15		
CARD14	79092	broad.mit.edu	37	17	78169063	78169063	+	Missense_Mutation	SNP	C	C	T	rs546212263	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78169063C>T	ENST00000573882.1	+	12	1966	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CARD14_ENST00000344227.2_Missense_Mutation_p.A477V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.A477V|CARD14_ENST00000392434.2_Missense_Mutation_p.A240V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	477					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGCCCCGCGCCCCCCAGC	0.657													C|||	6	0.00119808	0.0	0.0	5008	,	,		17270	0.0		0.0	False		,,,				2504	0.0061					uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(1429-1431)GCG>GTG		caspase recruitment domain protein 14 isoform 1							27.0	29.0	28.0					17																	78169063		2202	4300	6502	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78169063C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1430C>T	17.37:g.78169063C>T	ENSP00000458715:p.Ala477Val					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.A477V|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.A240V|CARD14_uc010dhu.1_Missense_Mutation_p.A275V	p.A477V	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1625	+	all_neural(118;0.0952)		477					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1430C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037596	0.08148	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.34072	1.38;1.38	4.59	-1.83	0.07833	.	1.388890	0.04678	N	0.411799	T	0.19167	0.0460	N	0.22421	0.69	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.19943	-1.0290	10	0.02654	T	1	-0.7066	5.6776	0.17757	0.0:0.2655:0.1345:0.6	.	477;240;477	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	V	477;240;240	ENSP00000344549:A477V;ENSP00000376229:A240V	ENSP00000308507:A240V	A	+	2	0	CARD14	75783658	0.081000	0.21417	0.011000	0.14972	0.277000	0.26821	0.040000	0.13905	-0.597000	0.05813	-1.044000	0.02363	GCG		0.657	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				10	12	0	0	0	0.010729	0	10	12		
NPTX1	4884	broad.mit.edu	37	17	78444649	78444649	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78444649G>T	ENST00000306773.4	-	5	1420	c.1263C>A	c.(1261-1263)acC>acA	p.T421T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	421	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)			AGGTCCACTTGGTGGCCCCTC	0.642																																						uc002jyp.1		NaN																	0					0						c.(1261-1263)ACC>ACA		neuronal pentraxin I precursor							61.0	55.0	57.0					17																	78444649		2203	4299	6502	SO:0001819	synonymous_variant	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78444649G>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.1263C>A	17.37:g.78444649G>T							p.T421T	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		5	1421	-	all_neural(118;0.0538)		421			Pentaxin.		B3KXH3|Q5FWE6	Silent	SNP	ENST00000306773.4	37	c.1263C>A	CCDS32762.1																																																																																				0.642	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1				37	19	1	0	8.16277e-20	0.006999	9.35009e-20	37	19		
GNA15	2769	broad.mit.edu	37	19	3151744	3151744	+	Silent	SNP	C	C	T	rs372177672		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:3151744C>T	ENST00000262958.3	+	4	783	c.525C>T	c.(523-525)taC>taT	p.Y175Y	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	175					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGGGCTACGTCCCCACAG	0.642																																						uc002lxf.2		NaN																	0				skin(2)	2						c.(523-525)TAC>TAT		guanine nucleotide binding protein (G protein),				0,4406		0,0,2203	122.0	104.0	110.0		525	1.2	0.1	19		110	2,8598	818.5+/-406.9	0,2,4298	no	coding-synonymous	GNA15	NM_002068.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		175/375	3151744	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151744C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.525C>T	19.37:g.3151744C>T							p.Y175Y	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	783	+		Hepatocellular(1079;0.137)	175					E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	ENST00000262958.3	37	c.525C>T	CCDS12104.1																																																																																				0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2		NM_002068		41	74	0	0	0	0.00361	0	41	74		
PRAM1	84106	broad.mit.edu	37	19	8563950	8563950	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:8563950C>T	ENST00000423345.4	-	2	1262	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E248K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	296	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGAGCGGCCTCGCTGAACTCA	0.632																																						uc002mkd.2		NaN																	0					0						c.(742-744)GAG>AAG		PML-RARA regulated adaptor molecule 1							35.0	38.0	37.0					19																	8563950		2079	4235	6314	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563950C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.742G>A	19.37:g.8563950C>T	ENSP00000408342:p.Glu248Lys					PRAM1_uc002mkc.2_Missense_Mutation_p.E248K	p.E248K	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	762	-			296			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.742G>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846179	0.51164	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.26810	1.71;1.72	3.42	2.36	0.29203	.	0.443298	0.17083	N	0.187694	T	0.40448	0.1117	M	0.62723	1.935	0.09310	N	1	D;D	0.76494	0.994;0.999	P;P	0.61201	0.737;0.885	T	0.09862	-1.0655	10	0.62326	D	0.03	.	8.941	0.35729	0.0:0.7735:0.2265:0.0	.	248;296	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	K	248	ENSP00000255612:E248K;ENSP00000408342:E248K	ENSP00000255612:E248K	E	-	1	0	PRAM1	8469950	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	0.642000	0.24735	0.969000	0.38237	0.591000	0.81541	GAG		0.632	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3		NM_032152		12	20	0	0	0	0.001855	0	12	20		
ZNF431	170959	broad.mit.edu	37	19	21365524	21365524	+	Missense_Mutation	SNP	G	G	C	rs181764553		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:21365524G>C	ENST00000311048.7	+	5	562	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	140					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATGTGAACATGAGAATTTACA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		17537	0.0		0.001	False		,,,				2504	0.0					uc002npp.2		NaN																	0				central_nervous_system(2)	2						c.(418-420)GAG>CAG		zinc finger protein 431							80.0	81.0	80.0					19																	21365524		2203	4299	6502	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365524G>C	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.418G>C	19.37:g.21365524G>C	ENSP00000308578:p.Glu140Gln					ZNF431_uc010ecq.2_Missense_Mutation_p.E49Q|ZNF431_uc010ecr.2_Missense_Mutation_p.E141Q	p.E140Q	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	565	+			140					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.418G>C	CCDS32979.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.02	1.811712	0.32053	.	.	ENSG00000196705	ENST00000311048	T	0.06608	3.28	0.362	0.362	0.16113	.	.	.	.	.	T	0.09949	0.0244	M	0.72118	2.19	0.20638	N	0.99987	B	0.24132	0.098	B	0.34093	0.175	T	0.32079	-0.9920	8	0.38643	T	0.18	.	.	.	.	.	140	Q8TF32	ZN431_HUMAN	Q	140	ENSP00000308578:E140Q	ENSP00000308578:E140Q	E	+	1	0	ZNF431	21157364	0.988000	0.35896	0.019000	0.16419	0.017000	0.09413	0.275000	0.18698	0.433000	0.26313	0.436000	0.28706	GAG		0.368	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1		XM_086098		12	34	0	0	0	0.001855	0	12	34		
ZNF607	84775	broad.mit.edu	37	19	38189554	38189554	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:38189554G>C	ENST00000355202.4	-	5	2073	c.1478C>G	c.(1477-1479)aCt>aGt	p.T493S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.T492S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCGATGTATAGTGAGTTTATG	0.393																																						uc002ohc.1		NaN																	0					0						c.(1477-1479)ACT>AGT		zinc finger protein 607							104.0	100.0	101.0					19																	38189554		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189554G>C	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1478C>G	19.37:g.38189554G>C	ENSP00000347338:p.Thr493Ser					ZNF607_uc002ohb.1_Missense_Mutation_p.T492S	p.T493S	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2074	-			493			C2H2-type 13.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1478C>G	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	7.668	0.686426	0.14973	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.35973	1.28;1.28	2.38	-0.87	0.10646	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	N	0.11131	0.1	0.09310	N	1	B;B	0.33940	0.008;0.433	B;B	0.32624	0.004;0.149	T	0.18304	-1.0341	9	0.33940	T	0.23	.	6.3425	0.21330	0.3569:0.0:0.6431:0.0	.	493;492	Q96SK3;F5H141	ZN607_HUMAN;.	S	493;492	ENSP00000347338:T493S;ENSP00000438015:T492S	ENSP00000347338:T493S	T	-	2	0	ZNF607	42881394	0.000000	0.05858	0.004000	0.12327	0.970000	0.65996	-1.472000	0.02341	-0.324000	0.08589	0.561000	0.74099	ACT		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689		26	99	0	0	0	0.010818	0	26	99		
ZNF780A	284323	broad.mit.edu	37	19	40580998	40580998	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:40580998C>T	ENST00000595687.2	-	6	1560	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E452K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E452K|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E451K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E417K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCCATCTCACATTCCCTA	0.403																																						uc002omy.2		NaN																	0					0						c.(1351-1353)GAG>AAG		zinc finger protein 780A isoform b							176.0	168.0	170.0					19																	40580998		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580998C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1351G>A	19.37:g.40580998C>T	ENSP00000472189:p.Glu451Lys					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E451K|ZNF780A_uc010xvh.1_Missense_Mutation_p.E452K	p.E451K	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1576	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		451			C2H2-type 11.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1351G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.889033	0.33348	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.15372	2.43;2.43	1.93	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12178	0.0296	L	0.31526	0.94	0.23351	N	0.997859	P;P	0.49961	0.93;0.47	B;B	0.42138	0.377;0.096	T	0.17258	-1.0375	9	0.72032	D	0.01	.	6.4368	0.21827	0.0:0.83:0.0:0.17	.	452;451	E9PB48;O75290	.;Z780A_HUMAN	K	451;452;451	ENSP00000400997:E452K;ENSP00000341507:E451K	ENSP00000341507:E451K	E	-	1	0	ZNF780A	45272838	0.939000	0.31865	0.004000	0.12327	0.006000	0.05464	2.034000	0.41145	0.143000	0.18926	-0.642000	0.03964	GAG		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880		44	167	0	0	0	0.00361	0	44	167		
C19orf48	84798	broad.mit.edu	37	19	51301486	51301486	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:51301486C>T	ENST00000598463.1	-	5	1318	c.220G>A	c.(220-222)Gac>Aac	p.D74N	C19orf48_ENST00000391812.1_Missense_Mutation_p.D74N|SNORD88B_ENST00000408454.1_RNA|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.D74N|C19orf48_ENST00000595794.1_5'Flank|C19orf48_ENST00000596655.1_Missense_Mutation_p.D74N			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	74										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TAGGCCTGGTCACAATAGGGA	0.632																																						uc002ptf.2		NaN																	0				ovary(1)	1						c.(220-222)GAC>AAC		multidrug resistance-related protein							114.0	104.0	107.0					19																	51301486		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301486C>T	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.220G>A	19.37:g.51301486C>T	ENSP00000471463:p.Asp74Asn					C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.D74N	p.D74N	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1142	-		all_neural(266;0.057)	74						Missense_Mutation	SNP	ENST00000598463.1	37	c.220G>A	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	c	8.301	0.820000	0.16678	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.31510	1.49;1.49	2.05	2.05	0.26809	.	.	.	.	.	T	0.37100	0.0991	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.09185	-1.0686	9	0.87932	D	0	.	7.6493	0.28340	0.0:1.0:0.0:0.0	.	74	Q6RUI8	CS048_HUMAN	N	74	ENSP00000375688:D74N;ENSP00000301419:D74N	ENSP00000301419:D74N	D	-	1	0	C19orf48	55993298	0.000000	0.05858	0.121000	0.21740	0.022000	0.10575	-0.572000	0.05881	1.478000	0.48253	0.549000	0.68633	GAC		0.632	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1		NM_032712		23	129	0	0	0	0.002299	0	23	129		
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52909178G>A	ENST00000360465.3	+	5	460	c.34G>A	c.(34-36)Gat>Aat	p.D12N	ZNF528_ENST00000391788.2_Missense_Mutation_p.D2N|ZNF528_ENST00000598192.1_Missense_Mutation_p.D12N|ZNF528_ENST00000594530.1_Missense_Mutation_p.D12N	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458																																						uc002pzh.2		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)GAT>AAT		zinc finger protein 528							198.0	193.0	195.0					19																	52909178		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909178G>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.34G>A	19.37:g.52909178G>A	ENSP00000353652:p.Asp12Asn					ZNF528_uc002pzi.2_5'UTR	p.D12N	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	460	+			12			KRAB.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.34G>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984486	0.35036	.	.	ENSG00000167555	ENST00000391788;ENST00000436397;ENST00000391787;ENST00000360465;ENST00000494167;ENST00000493272	T;T;T	0.11169	2.8;2.8;2.8	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.48804	0.1520	H	0.98901	4.365	0.25516	N	0.987415	D	0.89917	1.0	D	0.91635	0.999	T	0.49273	-0.8957	9	0.72032	D	0.01	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	12	Q3MIS6	ZN528_HUMAN	N	2;12;12;12;2;2	ENSP00000375665:D2N;ENSP00000375664:D12N;ENSP00000353652:D12N	ENSP00000353652:D12N	D	+	1	0	ZNF528	57600990	0.949000	0.32298	0.035000	0.18076	0.012000	0.07955	3.915000	0.56409	1.141000	0.42275	0.491000	0.48974	GAT		0.458	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423		39	234	0	0	0	0.009718	0	39	234		
ZNF534	147658	broad.mit.edu	37	19	52942185	52942185	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52942185A>G	ENST00000332323.6	+	4	1572	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E491G|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CATACTGGAGAGAAGCTTTAC	0.398																																						uc002pzk.2		NaN																	0					0						c.(1510-1512)GAG>GGG		zinc finger protein 534 isoform 2							38.0	36.0	36.0					19																	52942185		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942185A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1511A>G	19.37:g.52942185A>G	ENSP00000327538:p.Glu504Gly					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.E491G	p.E504G	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1572	+			504					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1511A>G	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382295	0.42207	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.27557	1.66;1.66	1.73	1.73	0.24493	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45397	0.1340	L	0.56280	1.765	0.80722	D	1	P;D	0.89917	0.517;1.0	B;D	0.85130	0.09;0.997	T	0.38134	-0.9675	9	0.72032	D	0.01	.	8.2275	0.31577	1.0:0.0:0.0:0.0	.	491;504	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	G	504;491;503	ENSP00000327538:E504G;ENSP00000391358:E491G	ENSP00000327538:E504G	E	+	2	0	ZNF534	57633997	1.000000	0.71417	0.014000	0.15608	0.021000	0.10359	4.378000	0.59568	0.770000	0.33336	0.321000	0.21382	GAG		0.398	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512		5	28	0	0	0	0.000602	0	5	28		
NLRP9	338321	broad.mit.edu	37	19	56243996	56243996	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:56243996C>G	ENST00000332836.2	-	2	1228	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	401	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAATTCCCTCTGCAGCCAAA	0.458																																						uc002qly.2		NaN																	0				skin(4)|ovary(2)|breast(1)	7						c.(1201-1203)GAG>CAG		NLR family, pyrin domain containing 9							83.0	83.0	83.0					19																	56243996		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243996C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1201G>C	19.37:g.56243996C>G	ENSP00000331857:p.Glu401Gln						p.E401Q	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1229	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	401			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1201G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332564	0.41297	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83837	-1.77	2.56	1.52	0.23074	.	.	.	.	.	D	0.83991	0.5374	M	0.69185	2.1	0.09310	N	1	D	0.60160	0.987	P	0.53102	0.718	T	0.72100	-0.4392	9	0.37606	T	0.19	.	7.7117	0.28682	0.0:0.8655:0.0:0.1345	.	401	Q7RTR0	NALP9_HUMAN	Q	401	ENSP00000331857:E401Q	ENSP00000331857:E401Q	E	-	1	0	NLRP9	60935808	0.017000	0.18338	0.100000	0.21137	0.062000	0.15995	0.658000	0.24979	0.677000	0.31305	0.644000	0.83932	GAG		0.458	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		20	143	0	0	0	0.003954	0	20	143		
ZNF71	58491	broad.mit.edu	37	19	57133733	57133733	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:57133733G>A	ENST00000328070.6	+	3	1312	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCGAGTGCGGCAAGGCCTT	0.627																																						uc002qnm.3		NaN																	0				skin(1)	1						c.(1078-1080)GGC>AGC		zinc finger protein 71							95.0	81.0	86.0					19																	57133733		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133733G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1078G>A	19.37:g.57133733G>A	ENSP00000328245:p.Gly360Ser						p.G360S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1316	+			360			C2H2-type 9.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1078G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277570	0.80580	.	.	ENSG00000197951	ENST00000328070	T	0.20463	2.07	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39145	0.1067	L	0.46947	1.48	0.31510	N	0.663696	D	0.89917	1.0	D	0.78314	0.991	T	0.44081	-0.9351	9	0.72032	D	0.01	.	14.1007	0.65054	0.0:0.0:1.0:0.0	.	360	Q9NQZ8	ZNF71_HUMAN	S	360	ENSP00000328245:G360S	ENSP00000328245:G360S	G	+	1	0	ZNF71	61825545	0.939000	0.31865	0.948000	0.38648	0.875000	0.50365	2.058000	0.41374	1.815000	0.52974	0.561000	0.74099	GGC		0.627	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2		NM_021216		21	98	0	0	0	0.012319	0	21	98		
BIRC6	57448	broad.mit.edu	37	2	32640936	32640936	+	Silent	SNP	C	C	G	rs371105102		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:32640936C>G	ENST00000421745.2	+	10	2711	c.2577C>G	c.(2575-2577)ctC>ctG	p.L859L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	859					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTACCTCGCTCATTTTGCTTC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(2575-2577)CTC>CTG		baculoviral IAP repeat-containing 6							69.0	62.0	64.0					2																	32640936		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640936C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2577C>G	2.37:g.32640936C>G							p.L859L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2711	+	Acute lymphoblastic leukemia(172;0.155)		859					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.2577C>G	CCDS33175.2																																																																																				0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		22	26	0	0	0	0.00333	0	22	26		
ANAPC1	64682	broad.mit.edu	37	2	112541911	112541911	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:112541911G>T	ENST00000341068.3	-	41	5756	c.4984C>A	c.(4984-4986)Ctt>Att	p.L1662I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1662					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGCTTTAAAAGATGGAGTTCT	0.438																																						uc002thi.2		NaN																	0				skin(2)	2						c.(4984-4986)CTT>ATT		anaphase promoting complex subunit 1							136.0	112.0	120.0					2																	112541911		2203	4299	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112541911G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4984C>A	2.37:g.112541911G>T	ENSP00000339109:p.Leu1662Ile						p.L1662I	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			41	5231	-			1662					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4984C>A	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.362|9.362	1.068318|1.068318	0.20067|0.20067	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.63|4.63	1.75|1.75	0.24633|0.24633	.|.	0.000000|.	0.44285|.	D|.	0.000470|.	T|T	0.45418|0.45418	0.1341|0.1341	L|L	0.45228|0.45228	1.405|1.405	0.43642|0.43642	D|D	0.99604|0.99604	P|.	0.34522|.	0.455|.	B|.	0.28553|.	0.091|.	T|T	0.22941|0.22941	-1.0202|-1.0202	9|5	0.38643|.	T|.	0.18|.	-16.862|-16.862	4.2428|4.2428	0.10656|0.10656	0.1598:0.0:0.4818:0.3584|0.1598:0.0:0.4818:0.3584	.|.	1662|.	Q9H1A4|.	APC1_HUMAN|.	I|Y	1662|1196	.|.	ENSP00000339109:L1662I|.	L|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112258382|112258382	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.141000|0.141000	0.21300|0.21300	6.209000|6.209000	0.72171|0.72171	0.358000|0.358000	0.24211|0.24211	-0.324000|-0.324000	0.08512|0.08512	CTT|TCT		0.438	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662		21	148	1	0	3.80469e-20	0.009535	4.43881e-20	21	148		
MARCO	8685	broad.mit.edu	37	2	119752005	119752005	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:119752005C>T	ENST00000327097.4	+	17	1607	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	MARCO_ENST00000541757.1_Missense_Mutation_p.T413M	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	491	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTCGGGGCACGGAGAGTACC	0.552																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1471-1473)ACG>ATG		macrophage receptor with collagenous structure							121.0	107.0	112.0					2																	119752005		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752005C>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1472C>T	2.37:g.119752005C>T	ENSP00000318916:p.Thr491Met					MARCO_uc010yyf.1_Missense_Mutation_p.T413M	p.T491M	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			17	1604	+			491			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1472C>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460804	0.26248	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.37058	1.22;1.22	5.25	-1.13	0.09775	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	1.906470	0.02503	N	0.090722	T	0.58323	0.2114	M	0.84773	2.715	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.41963	-0.9479	9	.	.	.	.	1.0993	0.01680	0.1457:0.3192:0.2836:0.2515	.	491	Q9UEW3	MARCO_HUMAN	M	491;437;413	ENSP00000318916:T491M;ENSP00000441769:T413M	.	T	+	2	0	MARCO	119468475	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.497000	0.06428	0.070000	0.16634	-0.126000	0.14955	ACG		0.552	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2		NM_006770		17	60	0	0	0	0.007413	0	17	60		
TTN	7273	broad.mit.edu	37	2	179404371	179404371	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179404371G>A	ENST00000591111.1	-	302	93722	c.93498C>T	c.(93496-93498)gaC>gaT	p.D31166D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.D32807D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.D30239D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D23934D|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D23867D|TTN_ENST00000460472.2_Silent_p.D23742D|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31166	Fibronectin type-III 127. {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)			GGACTTGGATGTCATCATATT	0.507																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(90715-90717)GAC>GAT		titin isoform N2-A							127.0	124.0	125.0					2																	179404371		2098	4211	6309	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404371G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93498C>T	2.37:g.179404371G>A						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D23934D|TTN_uc010zfi.1_Silent_p.D23867D|TTN_uc010zfj.1_Silent_p.D23742D	p.D30239D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90941	-			31166					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.90717C>T																																																																																					0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		38	56	0	0	0	0.00623	0	38	56		
TTN	7273	broad.mit.edu	37	2	179528611	179528611	+	Intron	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179528611T>G	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E12128A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GCGGATAACCTCTTTGGAAGC	0.418																																						uc010zfk.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(820-822)GAG>GCG		SubName: Full=Titin; Flags: Fragment;							283.0	262.0	268.0					2																	179528611		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528611T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5090A>C	2.37:g.179528611T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.E274A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	1369	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.821A>C		.	.	.	.	.	.	.	.	.	.	T	10.22	1.289972	0.23478	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.19300	N	0.999977	P	0.47762	0.9	B	0.43754	0.43	T	0.03403	-1.1040	7	0.11485	T	0.65	.	7.3545	0.26711	0.0:0.0784:0.1457:0.7759	.	402	Q71S18	.	A	402;254	.	ENSP00000376219:E254A	E	-	2	0	TTN	179236856	0.001000	0.12720	0.022000	0.16811	0.008000	0.06430	0.895000	0.28363	1.895000	0.54865	0.460000	0.39030	GAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		30	115	0	0	0	0.003271	0	30	115		
ZDBF2	57683	broad.mit.edu	37	2	207169716	207169716	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:207169716T>C	ENST00000374423.3	+	5	850	c.464T>C	c.(463-465)aTt>aCt	p.I155T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	155							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCATAAAATTGGGGCCAGT	0.448																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(463-465)ATT>ACT		zinc finger, DBF-type containing 2							49.0	46.0	47.0					2																	207169716		1850	4103	5953	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169716T>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.464T>C	2.37:g.207169716T>C	ENSP00000363545:p.Ile155Thr						p.I155T	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	714	+			155					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.464T>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964568	0.34659	.	.	ENSG00000204186	ENST00000374423	T	0.16196	2.36	4.65	0.916	0.19373	.	0.439499	0.16890	N	0.195345	T	0.11580	0.0282	L	0.44542	1.39	0.09310	N	1	B	0.25235	0.121	B	0.19148	0.024	T	0.20672	-1.0268	10	0.46703	T	0.11	.	3.4631	0.07540	0.2813:0.161:0.0:0.5577	.	155	Q9HCK1	ZDBF2_HUMAN	T	155	ENSP00000363545:I155T	ENSP00000363545:I155T	I	+	2	0	ZDBF2	206877961	0.982000	0.34865	0.415000	0.26534	0.465000	0.32709	1.206000	0.32321	0.241000	0.21283	0.528000	0.53228	ATT		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		14	10	0	0	0	0.001855	0	14	10		
PCSK2	5126	broad.mit.edu	37	20	17339006	17339006	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr20:17339006G>A	ENST00000262545.2	+	3	632	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	PCSK2_ENST00000377899.1_Missense_Mutation_p.R87Q|PCSK2_ENST00000536609.1_Missense_Mutation_p.R71Q	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	106					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGATTTGACCGAAAAAAGCGA	0.388																																						uc002wpm.2		NaN																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(316-318)CGA>CAA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						179.0	147.0	158.0					20																	17339006		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17339006G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.317G>A	20.37:g.17339006G>A	ENSP00000262545:p.Arg106Gln					PCSK2_uc002wpl.2_Missense_Mutation_p.R87Q|PCSK2_uc010zrm.1_Missense_Mutation_p.R71Q	p.R106Q	NM_002594	NP_002585	P16519	NEC2_HUMAN			3	637	+			106					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.317G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	34	5.391085	0.95988	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.75704	-0.91;-0.96;-0.74	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.87279	0.2291	10	0.87932	D	0	-12.6911	18.3732	0.90420	0.0:0.0:1.0:0.0	.	71;106	B4DFQ3;P16519	.;NEC2_HUMAN	Q	87;106;71	ENSP00000367131:R87Q;ENSP00000262545:R106Q;ENSP00000437458:R71Q	ENSP00000262545:R106Q	R	+	2	0	PCSK2	17287006	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	9.370000	0.97159	2.941000	0.99782	0.655000	0.94253	CGA		0.388	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2		NM_002594		22	52	0	0	0	0.005443	0	22	52		
ADAMTS5	11096	broad.mit.edu	37	21	28302365	28302365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr21:28302365C>T	ENST00000284987.5	-	7	2186	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	689	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCCTACATTCAGTGCCATCG	0.478																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2065-2067)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							184.0	163.0	170.0					21																	28302365		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302365C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2065G>A	21.37:g.28302365C>T	ENSP00000284987:p.Glu689Lys						p.E689K	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			7	2794	-			689			Cys-rich.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2065G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489273	0.44249	.	.	ENSG00000154736	ENST00000284987	T	0.59224	0.28	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	N	0.13043	0.29	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.65857	-0.6066	10	0.46703	T	0.11	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	689	Q9UNA0	ATS5_HUMAN	K	689	ENSP00000284987:E689K	ENSP00000284987:E689K	E	-	1	0	ADAMTS5	27224236	1.000000	0.71417	0.506000	0.27664	0.168000	0.22595	7.205000	0.77881	2.837000	0.97791	0.655000	0.94253	GAA		0.478	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				38	102	0	0	0	0.00874	0	38	102		
COMT	1312	broad.mit.edu	37	22	19951164	19951164	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:19951164C>T	ENST00000361682.6	+	4	747	c.365C>T	c.(364-366)tCa>tTa	p.S122L	COMT_ENST00000493893.1_3'UTR|COMT_ENST00000449653.1_Missense_Mutation_p.S72L|COMT_ENST00000403184.1_Missense_Mutation_p.S122L|COMT_ENST00000407537.1_Missense_Mutation_p.S72L|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000406520.3_Missense_Mutation_p.S122L|COMT_ENST00000403710.1_Missense_Mutation_p.S122L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	122					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	TGTGGCTACTCAGCTGTGCGC	0.647																																						uc002zqu.2		NaN																	0				ovary(1)	1						c.(364-366)TCA>TTA		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						49.0	43.0	45.0					22																	19951164		2203	4300	6503	SO:0001583	missense	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951164C>T		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.365C>T	22.37:g.19951164C>T	ENSP00000354511:p.Ser122Leu					COMT_uc002zqt.2_Missense_Mutation_p.S122L|COMT_uc002zqv.2_Missense_Mutation_p.S122L|COMT_uc002zqw.2_Missense_Mutation_p.S122L|COMT_uc011ahd.1_Missense_Mutation_p.S122L|COMT_uc002zqx.2_Missense_Mutation_p.S122L	p.S122L	NM_000754	NP_000745	P21964	COMT_HUMAN			4	614	+	Colorectal(54;0.0993)		122				S-adenosyl-L-methionine.	A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	37	c.365C>T	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119763	0.77323	.	.	ENSG00000093010	ENST00000361682;ENST00000403184;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86737	0.1952	9	.	.	.	-12.7363	17.9918	0.89171	0.0:1.0:0.0:0.0	.	122;122	P21964;E7EUU8	COMT_HUMAN;.	L	122;122;122;72;122;122;72	ENSP00000354511:S122L;ENSP00000383966:S122L;ENSP00000385917:S122L;ENSP00000384654:S72L;ENSP00000403958:S122L;ENSP00000385150:S122L;ENSP00000416778:S72L	.	S	+	2	0	COMT	18331164	1.000000	0.71417	0.978000	0.43139	0.041000	0.13682	5.183000	0.65065	2.633000	0.89246	0.655000	0.94253	TCA		0.647	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2		NM_000754		33	38	0	0	0	0.003755	0	33	38		
MTMR3	8897	broad.mit.edu	37	22	30415660	30415660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:30415660G>A	ENST00000401950.2	+	17	2354	c.2012G>A	c.(2011-2013)aGa>aAa	p.R671K	MTMR3_ENST00000351488.3_Missense_Mutation_p.R671K|MTMR3_ENST00000323630.5_Missense_Mutation_p.R535K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.R671K|MTMR3_ENST00000406629.1_Missense_Mutation_p.R671K|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	671					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGCCCACCAGAGTGCCGGGG	0.622																																						uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(2011-2013)AGA>AAA		myotubularin-related protein 3 isoform c							53.0	63.0	60.0					22																	30415660		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415660G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2012G>A	22.37:g.30415660G>A	ENSP00000384651:p.Arg671Lys					MTMR3_uc003agu.3_Missense_Mutation_p.R671K|MTMR3_uc003agw.3_Missense_Mutation_p.R671K	p.R671K	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2340	+			671					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2012G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260358	0.23051	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92647	-2.89;-2.86;-3.08;-2.91;-2.86	5.8	-3.17	0.05202	.	1.505170	0.03859	N	0.273607	D	0.84419	0.5468	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.69045	-0.5249	10	0.12430	T	0.62	.	15.5191	0.75851	0.1664:0.0:0.8336:0.0	.	671;671;671	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	K	671;671;535;671;671	ENSP00000384651:R671K;ENSP00000331649:R671K;ENSP00000318070:R535K;ENSP00000307271:R671K;ENSP00000384077:R671K	ENSP00000318070:R535K	R	+	2	0	MTMR3	28745660	0.308000	0.24509	0.032000	0.17829	0.930000	0.56654	1.197000	0.32211	-0.379000	0.07906	0.655000	0.94253	AGA		0.622	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		53	38	0	0	0	0.00361	0	53	38		
ELFN2	114794	broad.mit.edu	37	22	37769638	37769638	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:37769638T>A	ENST00000402918.2	-	3	2722	c.1937A>T	c.(1936-1938)gAc>gTc	p.D646V	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	646					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCGGGCACGTCCAGGCTAAA	0.672																																						uc003asq.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1936-1938)GAC>GTC		leucine rich repeat containing 62							10.0	10.0	10.0					22																	37769638		2151	4208	6359	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769638T>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1937A>T	22.37:g.37769638T>A	ENSP00000385277:p.Asp646Val						p.D646V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2723	-	Melanoma(58;0.0574)		646			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1937A>T	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013616	0.54468	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.58797	0.31;0.31	4.82	4.82	0.62117	.	0.055761	0.64402	D	0.000001	T	0.68007	0.2954	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.71830	-0.4474	10	0.87932	D	0	-33.8085	14.4035	0.67065	0.0:0.0:0.0:1.0	.	646	Q5R3F8	PPR29_HUMAN	V	646	ENSP00000300147:D646V;ENSP00000385277:D646V	ENSP00000300147:D646V	D	-	2	0	ELFN2	36099584	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.015000	0.70791	1.791000	0.52520	0.459000	0.35465	GAC		0.672	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2		NM_052906		5	10	0	0	0	0.001168	0	5	10		
CYB5R3	1727	broad.mit.edu	37	22	43032743	43032743	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:43032743G>A	ENST00000352397.5	-	2	383	c.131C>T	c.(130-132)cCg>cTg	p.P44L	CYB5R3_ENST00000407623.3_Missense_Mutation_p.P21L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P21L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P21L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P21L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.P77L	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	44	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	GAGCCGCAGCGGGTACTTGAT	0.632																																						uc003bcz.2		NaN																	0				skin(1)	1						c.(130-132)CCG>CTG		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						47.0	44.0	45.0					22																	43032743		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032743G>A	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.131C>T	22.37:g.43032743G>A	ENSP00000338461:p.Pro44Leu					CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.P34L|CYB5R3_uc011aps.1_Missense_Mutation_p.P77L|CYB5R3_uc003bcy.2_Missense_Mutation_p.P21L|CYB5R3_uc003bcx.2_Missense_Mutation_p.P21L	p.P44L	NM_000398	NP_000389	P00387	NB5R3_HUMAN			2	215	-			44			FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.131C>T	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673061	0.29693	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	4.7	4.7	0.59300	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.193249	0.44097	D	0.000499	T	0.82061	0.4955	M	0.69823	2.125	0.48571	D	0.999676	D;B	0.58268	0.982;0.04	B;B	0.37198	0.243;0.029	D	0.83693	0.0178	10	0.36615	T	0.2	-16.6512	15.4932	0.75629	0.0:0.0:1.0:0.0	.	77;44	B7Z7L3;P00387	.;NB5R3_HUMAN	L	77;21;44;21;21;21;21	ENSP00000354468:P77L;ENSP00000379597:P21L;ENSP00000338461:P44L;ENSP00000384834:P21L;ENSP00000384457:P21L;ENSP00000385679:P21L;ENSP00000403439:P21L	ENSP00000338461:P44L	P	-	2	0	CYB5R3	41362687	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.532000	0.67154	2.324000	0.78689	0.313000	0.20887	CCG		0.632	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1				7	7	0	0	0	0.004482	0	7	7		
OGG1	4968	broad.mit.edu	37	3	9798767	9798767	+	Missense_Mutation	SNP	G	G	A	rs541588028		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:9798767G>A	ENST00000344629.7	+	7	1314	c.971G>A	c.(970-972)cGc>cAc	p.R324H	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.A330T			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	324					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCCGACCTGCGCCAATCCCGC	0.602								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0014	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.0					uc003bsi.2		NaN																	0					0						c.(970-972)CGC>CAC	BER_DNA_glycosylases	8-oxoguanine DNA-glycosylase 1 isoform 1a							96.0	106.0	103.0					3																	9798767		2203	4300	6503	SO:0001583	missense	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798767G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.971G>A	3.37:g.9798767G>A	ENSP00000342851:p.Arg324His					OGG1_uc003bsh.2_3'UTR|OGG1_uc003bsj.2_Missense_Mutation_p.A330T|OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.A95T|OGG1_uc010hcm.1_Missense_Mutation_p.A117T|OGG1_uc003bsq.1_Missense_Mutation_p.A39T|OGG1_uc003bsr.1_Missense_Mutation_p.R89H	p.R324H	NM_002542	NP_002533	O15527	OGG1_HUMAN			7	1314	+	Medulloblastoma(99;0.227)		324					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.971G>A	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.643|1.643	-0.515967|-0.515967	0.04200|0.04200	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000339542|ENST00000344629	T|T	0.60920|0.51817	0.15|0.69	5.05|5.05	0.227|0.227	0.15359|0.15359	.|DNA glycosylase (1);	.|.	.|.	.|.	.|.	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.43152|0.43152	1.355|1.355	0.42518|0.42518	D|D	0.992993|0.992993	B;B;B;B|B;B	0.18461|0.11235	0.004;0.028;0.006;0.003|0.004;0.004	B;B;B;B|B;B	0.15052|0.04013	0.004;0.012;0.003;0.002|0.001;0.001	T|T	0.14811|0.14811	-1.0459|-1.0459	9|9	0.13853|0.59425	T|D	0.58|0.04	.|.	10.001|10.001	0.41929|0.41929	0.3759:0.0:0.6241:0.0|0.3759:0.0:0.6241:0.0	.|.	117;101;330;330|324;324	F8WA07;Q9HCR8;O15527-3;E5KPN0|E5KPN1;O15527	.;.;.;.|.;OGG1_HUMAN	T|H	330;117|324	ENSP00000305584:A330T|ENSP00000342851:R324H	ENSP00000305584:A330T|ENSP00000342851:R324H	A|R	+|+	1|2	0|0	OGG1|OGG1	9773767|9773767	0.009000|0.009000	0.17119|0.17119	0.622000|0.622000	0.29159|0.29159	0.022000|0.022000	0.10575|0.10575	-0.373000|-0.373000	0.07494|0.07494	-0.279000|-0.279000	0.09167|0.09167	-1.736000|-1.736000	0.00690|0.00690	GCC|CGC		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2		NM_016821		32	110	0	0	0	0.012213	0	32	110		
PPARG	5468	broad.mit.edu	37	3	12475606	12475606	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:12475606C>T	ENST00000287820.6	+	7	1601	c.1480C>T	c.(1480-1482)Cac>Tac	p.H494Y	PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.H466Y|PPARG_ENST00000397026.2_Missense_Mutation_p.H472Y|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.H466Y|PPARG_ENST00000309576.6_Missense_Mutation_p.H466Y|PPARG_ENST00000397012.2_Missense_Mutation_p.H466Y	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	494	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CATGAGTCTTCACCCGCTCCT	0.502			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															uc003bwx.2		NaN		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(1480-1482)CAC>TAC		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						57.0	51.0	53.0					3																	12475606		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12475606C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1480C>T	3.37:g.12475606C>T	ENSP00000287820:p.His494Tyr					PPARG_uc003bwr.2_Missense_Mutation_p.H466Y|PPARG_uc003bws.2_Missense_Mutation_p.H466Y|PPARG_uc003bwu.2_Missense_Mutation_p.H466Y|PPARG_uc003bwv.2_3'UTR	p.H494Y	NM_015869	NP_056953	P37231	PPARG_HUMAN			7	1571	+			494			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1480C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018735	0.75275	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);	0.051457	0.85682	D	0.000000	T	0.72028	0.3410	M	0.84683	2.71	0.80722	D	1	P	0.48764	0.915	B	0.32805	0.153	T	0.80058	-0.1541	10	0.59425	D	0.04	.	19.6973	0.96031	0.0:1.0:0.0:0.0	.	494	P37231	PPARG_HUMAN	Y	466;466;466;466;472;494	ENSP00000380205:H466Y;ENSP00000312472:H466Y;ENSP00000380210:H466Y;ENSP00000380207:H466Y;ENSP00000380221:H472Y;ENSP00000287820:H494Y	ENSP00000287820:H494Y	H	+	1	0	PPARG	12450606	1.000000	0.71417	0.957000	0.39632	0.948000	0.59901	7.776000	0.85560	2.657000	0.90304	0.650000	0.86243	CAC		0.502	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037		29	16	0	0	0	0.012213	0	29	16		
GLYCTK	132158	broad.mit.edu	37	3	52326880	52326880	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:52326880G>T	ENST00000436784.2	+	5	1370	c.1310G>T	c.(1309-1311)tGg>tTg	p.W437L	GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	437					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TTGAGAAGGTGGCCGCTGGGG	0.662																																						uc003ddo.2		NaN																	0					0						c.(1309-1311)TGG>TTG		glycerate kinase isoform 1							88.0	81.0	84.0					3																	52326880		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326880G>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1310G>T	3.37:g.52326880G>T	ENSP00000389175:p.Trp437Leu					GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Missense_Mutation_p.W101L	p.W437L	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	5	1406	+			437					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.1310G>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	3.277	-0.147872	0.06627	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.50001	0.76	5.98	-0.357	0.12579	MOFRL domain (2);	1.392210	0.03771	N	0.259730	T	0.18002	0.0432	N	0.02011	-0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16364	-1.0405	9	.	.	.	0.0313	0.8704	0.01213	0.349:0.182:0.2978:0.1711	.	437	Q8IVS8	GLCTK_HUMAN	L	437;371	ENSP00000389175:W437L	.	W	+	2	0	GLYCTK	52301920	0.008000	0.16893	0.022000	0.16811	0.675000	0.39556	1.273000	0.33121	0.516000	0.28340	0.655000	0.94253	TGG		0.662	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1		NM_145262		44	34	1	0	1.81118e-26	0.00361	2.13279e-26	44	34		
OR5K1	26339	broad.mit.edu	37	3	98188871	98188871	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:98188871G>T	ENST00000332650.5	+	1	548	c.451G>T	c.(451-453)Gct>Tct	p.A151S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCTTCATAGCTGGAAACCT	0.443																																						uc003dsm.2		NaN																	0				large_intestine(1)	1						c.(451-453)GCT>TCT		olfactory receptor, family 5, subfamily K,							166.0	167.0	167.0					3																	98188871		2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188871G>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.451G>T	3.37:g.98188871G>T	ENSP00000373193:p.Ala151Ser						p.A151S	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	451	+			151			Helical; Name=4; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.451G>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377474	0.61735	.	.	ENSG00000232382	ENST00000332650	T	0.37584	1.19	4.8	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175487	0.27393	N	0.019565	T	0.35595	0.0937	N	0.16790	0.44	0.22240	N	0.999268	P	0.51791	0.948	P	0.59643	0.861	T	0.12967	-1.0527	10	0.25751	T	0.34	-3.3244	10.7543	0.46228	0.0929:0.0:0.9071:0.0	.	151	Q8NHB7	OR5K1_HUMAN	S	151	ENSP00000373193:A151S	ENSP00000373193:A151S	A	+	1	0	OR5K1	99671561	0.005000	0.15991	0.967000	0.41034	0.984000	0.73092	0.150000	0.16263	1.244000	0.43870	0.563000	0.77884	GCT		0.443	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1				39	76	1	0	4.14481e-20	0.00623	4.79125e-20	39	76		
TAGLN3	29114	broad.mit.edu	37	3	111719695	111719695	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:111719695C>T	ENST00000393917.2	+	3	809	c.257C>T	c.(256-258)gCt>gTt	p.A86V	TAGLN3_ENST00000455401.2_Missense_Mutation_p.A86V|TAGLN3_ENST00000273368.4_Missense_Mutation_p.A86V|TAGLN3_ENST00000478951.1_Missense_Mutation_p.A86V|TAGLN3_ENST00000486460.1_Missense_Mutation_p.A2V	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	86	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TCAAAGATGGCTTTTAAGCAG	0.488																																						uc003dym.2		NaN																	0					0						c.(256-258)GCT>GTT		transgelin 3							178.0	180.0	179.0					3																	111719695		2203	4300	6503	SO:0001583	missense	29114				central nervous system development|muscle organ development			g.chr3:111719695C>T	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.257C>T	3.37:g.111719695C>T	ENSP00000377494:p.Ala86Val					TAGLN3_uc003dyl.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyn.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyo.2_Missense_Mutation_p.A86V	p.A86V	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN			3	635	+			86			CH.		D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	c.257C>T	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982070	0.53827	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	T;T;T;T;T;D	0.94537	0.26;0.26;0.26;0.26;0.91;-3.45	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	L	0.46819	1.47	0.58432	D	0.999999	B	0.10296	0.003	B	0.16722	0.016	D	0.85954	0.1466	10	0.25751	T	0.34	-6.7417	12.291	0.54819	0.0:0.9219:0.0:0.0781	.	86	Q9UI15	TAGL3_HUMAN	V	86;86;86;86;86;2;26	ENSP00000419105:A86V;ENSP00000377494:A86V;ENSP00000273368:A86V;ENSP00000391160:A86V;ENSP00000417904:A2V;ENSP00000420346:A26V	ENSP00000273368:A86V	A	+	2	0	TAGLN3	113202385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.782000	0.68973	2.770000	0.95276	0.650000	0.86243	GCT		0.488	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1		NM_013259		60	225	0	0	0	0.00361	0	60	225		
GRAMD1C	54762	broad.mit.edu	37	3	113627845	113627845	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:113627845A>C	ENST00000358160.4	+	9	1322	c.830A>C	c.(829-831)aAa>aCa	p.K277T	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K110T|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K72T|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	277						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAACAGACCAAAAAGAGTCTC	0.363																																						uc003eaq.3		NaN																	0				ovary(2)|skin(1)	3						c.(829-831)AAA>ACA		GRAM domain containing 1C							75.0	78.0	77.0					3																	113627845		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113627845A>C		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.830A>C	3.37:g.113627845A>C	ENSP00000350881:p.Lys277Thr					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.K110T|GRAMD1C_uc003eas.2_Missense_Mutation_p.K72T	p.K277T	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			9	906	+			277					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.830A>C	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	7.598	0.672244	0.14776	.	.	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.48522	1.48;0.89;0.81	5.37	1.61	0.23674	.	1.727610	0.02534	N	0.093881	T	0.37156	0.0993	L	0.28694	0.88	0.80722	D	1	P;P	0.45827	0.867;0.745	B;B	0.43623	0.288;0.425	T	0.42032	-0.9475	10	0.14656	T	0.56	.	4.8508	0.13537	0.6702:0.1586:0.1712:0.0	.	110;277	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	T	277;110;72;72	ENSP00000350881:K277T;ENSP00000419132:K110T;ENSP00000408135:K72T	ENSP00000350881:K277T	K	+	2	0	GRAMD1C	115110535	0.986000	0.35501	0.015000	0.15790	0.054000	0.15201	1.275000	0.33144	0.097000	0.17492	0.455000	0.32223	AAA		0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1		NM_017577		77	20	0	0	0	0.00361	0	77	20		
PARP15	165631	broad.mit.edu	37	3	122354758	122354758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:122354758C>A	ENST00000464300.2	+	12	1914	c.1848C>A	c.(1846-1848)taC>taA	p.Y616*	PARP15_ENST00000483793.1_Nonsense_Mutation_p.Y421*|PARP15_ENST00000493645.1_Nonsense_Mutation_p.Y313*|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Nonsense_Mutation_p.Y382*	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	616	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGCACATGTACGTTGTGCGAG	0.483																																						uc003efm.2		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1846-1848)TAC>TAA		poly (ADP-ribose) polymerase family, member 15							162.0	136.0	145.0					3																	122354758		2203	4300	6503	SO:0001587	stop_gained	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354758C>A	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1848C>A	3.37:g.122354758C>A	ENSP00000417214:p.Tyr616*					PARP15_uc003efn.2_Nonsense_Mutation_p.Y421*|PARP15_uc003efo.1_Nonsense_Mutation_p.Y363*|PARP15_uc003efp.1_Nonsense_Mutation_p.Y382*|PARP15_uc011bjt.1_Nonsense_Mutation_p.Y313*	p.Y616*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	1914	+			594			PARP catalytic.		J3KR47|Q8N1K3	Nonsense_Mutation	SNP	ENST00000464300.2	37	c.1848C>A	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416137	0.25552	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	.	.	.	3.99	-2.72	0.05968	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4817	0.55847	0.0:0.679:0.0:0.321	.	.	.	.	X	616;421;363;382;313	.	ENSP00000308436:Y382X	Y	+	3	2	PARP15	123837448	0.003000	0.15002	0.000000	0.03702	0.206000	0.24218	0.044000	0.13992	-0.412000	0.07519	-0.806000	0.03193	TAC		0.483	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2		NM_152615		19	65	1	0	1.33834e-09	0.007413	1.44129e-09	19	65		
CEP63	80254	broad.mit.edu	37	3	134278206	134278206	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:134278206A>G	ENST00000337090.3	+	14	2061	c.1888A>G	c.(1888-1890)Aat>Gat	p.N630D	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.N630D|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.N630D|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	630					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTAGATACAAATGAAGCCAA	0.403																																						uc003eqo.1		NaN																	0				ovary(1)	1						c.(1888-1890)AAT>GAT		centrosomal protein 63 isoform a							89.0	86.0	87.0					3																	134278206		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278206A>G	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1888A>G	3.37:g.134278206A>G	ENSP00000336524:p.Asn630Asp					CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.N630D	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			15	2337	+			630					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1888A>G	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	A	7.199	0.593001	0.13875	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18810	2.19;2.19	5.01	1.17	0.20885	.	0.359732	0.26883	N	0.022010	T	0.13884	0.0336	L	0.46157	1.445	0.09310	N	0.999998	B	0.10296	0.003	B	0.11329	0.006	T	0.33929	-0.9849	10	0.13108	T	0.6	-3.4746	5.3076	0.15813	0.5571:0.3507:0.0921:0.0	.	630	Q96MT8	CEP63_HUMAN	D	630	ENSP00000336524:N630D;ENSP00000426129:N630D	ENSP00000336524:N630D	N	+	1	0	CEP63	135760896	0.941000	0.31946	0.025000	0.17156	0.379000	0.30106	2.672000	0.46850	0.048000	0.15891	-0.256000	0.11100	AAT		0.403	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1		NM_025180		21	60	0	0	0	0.008871	0	21	60		
SI	6476	broad.mit.edu	37	3	164697153	164697153	+	Silent	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:164697153T>A	ENST00000264382.3	-	48	5543	c.5481A>T	c.(5479-5481)tcA>tcT	p.S1827S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1827	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTGATCTTCATGACCAGTTGA	0.318										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5479-5481)TCA>TCT		sucrase-isomaltase	Acarbose(DB00284)						153.0	155.0	154.0					3																	164697153		2202	4300	6502	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164697153T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5481A>T	3.37:g.164697153T>A		HNSCC(35;0.089)					p.S1827S	NM_001041	NP_001032	P14410	SUIS_HUMAN			48	5543	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1827			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5481A>T	CCDS3196.1																																																																																				0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		28	117	0	0	0	0.008361	0	28	117		
WDR1	9948	broad.mit.edu	37	4	10079467	10079467	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:10079467G>A	ENST00000499869.2	-	13	1672	c.1479C>T	c.(1477-1479)acC>acT	p.T493T	WDR1_ENST00000502702.1_Silent_p.T353T|WDR1_ENST00000382452.2_Silent_p.T493T|WDR1_ENST00000382451.2_Silent_p.T353T|WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA			O75083	WDR1_HUMAN	WD repeat domain 1	493					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGGCCACGTCGGTCACGGGGC	0.652																																						uc003gmf.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1477-1479)ACC>ACT		WD repeat-containing protein 1 isoform 1							35.0	41.0	39.0					4																	10079467		2164	4251	6415	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10079467G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1479C>T	4.37:g.10079467G>A						WDR1_uc003gmg.2_Silent_p.T353T|WDR1_uc010idm.2_RNA	p.T493T	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	13	1762	-			493			WD 9.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1479C>T	CCDS54740.1																																																																																				0.652	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				5	8	0	0	0	0.000602	0	5	8		
PCDH7	5099	broad.mit.edu	37	4	30726012	30726012	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:30726012C>T	ENST00000361762.2	+	1	3976	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P990S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	990					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCCGGCAGTCCTGACCTGGC	0.507																																						uc003gsk.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2968-2970)CCT>TCT		protocadherin 7 isoform a precursor							87.0	88.0	88.0					4																	30726012		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726012C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2968C>T	4.37:g.30726012C>T	ENSP00000355243:p.Pro990Ser					PCDH7_uc011bxw.1_Missense_Mutation_p.P943S|PCDH7_uc011bxx.1_Missense_Mutation_p.P990S	p.P990S	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3976	+			990			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2968C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.409341|3.409341	0.62399|0.62399	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|T	0.60040|0.51574	0.22;0.22|0.7	4.93|4.93	4.93|4.93	0.64822|0.64822	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.991;0.998|.	T|T	0.73036|0.73036	-0.4109|-0.4109	9|7	0.87932|0.87932	D|D	0|0	.|.	18.3351|18.3351	0.90285|0.90285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	990;943;990|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	S|F	990;990;943|679	ENSP00000355243:P990S;ENSP00000441802:P990S|ENSP00000427066:S679F	ENSP00000330302:P943S|ENSP00000427066:S679F	P|S	+|+	1|2	0|0	PCDH7|PCDH7	30335110|30335110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	7.320000|7.320000	0.79064|0.79064	2.567000|2.567000	0.86603|0.86603	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.507	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589		18	41	0	0	0	0.006122	0	18	41		
PRKG2	5593	broad.mit.edu	37	4	82058586	82058586	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:82058586G>T	ENST00000395578.1	-	13	1711	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D	PRKG2_ENST00000418486.2_Missense_Mutation_p.A503D|PRKG2_ENST00000264399.1_Missense_Mutation_p.A532D|PRKG2_ENST00000545647.1_Missense_Mutation_p.A112D|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTAAGCAGGCCTCCAGAAG	0.338																																						uc003hmh.2		NaN																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1594-1596)GCC>GAC		protein kinase, cGMP-dependent, type II							126.0	126.0	126.0					4																	82058586		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82058586G>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1595C>A	4.37:g.82058586G>T	ENSP00000378945:p.Ala532Asp					PRKG2_uc011ccf.1_Missense_Mutation_p.A112D|PRKG2_uc011ccg.1_Missense_Mutation_p.A112D|PRKG2_uc011cch.1_Missense_Mutation_p.A503D	p.A532D	NM_006259	NP_006250	Q13237	KGP2_HUMAN			12	1609	-			532			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1595C>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895185	0.72639	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.51	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092667	0.85682	D	0.000000	T	0.18130	0.0435	L	0.31578	0.945	0.80722	D	1	D;D	0.63880	0.993;0.958	D;D	0.72625	0.972;0.978	T	0.01829	-1.1265	10	0.42905	T	0.14	-13.9528	15.3609	0.74472	0.0:0.0:0.8592:0.1407	.	503;532	E7EPE6;Q13237	.;KGP2_HUMAN	D	532;532;503;112	ENSP00000378945:A532D;ENSP00000264399:A532D;ENSP00000389038:A503D;ENSP00000439967:A112D	ENSP00000264399:A532D	A	-	2	0	PRKG2	82277610	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.762000	0.74950	1.322000	0.45245	0.491000	0.48974	GCC		0.338	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		23	64	1	0	4.59853e-10	0.005443	5.03839e-10	23	64		
GRID2	2895	broad.mit.edu	37	4	94344056	94344056	+	Silent	SNP	C	C	T	rs78407646	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:94344056C>T	ENST00000282020.4	+	10	1740	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	GRID2_ENST00000510992.1_Silent_p.H399H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	494					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CACCGGATCACAAATACGGAA	0.398																																						uc011cdt.1		NaN																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1480-1482)CAC>CAT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	116.0	117.0	117.0		1482	4.2	1.0	4	dbSNP_131	117	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	GRID2	NM_001510.2		0,8,6495	TT,TC,CC		0.093,0.0,0.0615		494/1008	94344056	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344056C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1482C>T	4.37:g.94344056C>T						GRID2_uc011cdu.1_Silent_p.H399H	p.H494H	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1740	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	494			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1482C>T	CCDS3637.1																																																																																				0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2				19	39	0	0	0	0.012319	0	19	39		
MAP1B	4131	broad.mit.edu	37	5	71492471	71492471	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:71492471G>A	ENST00000296755.7	+	5	3587	c.3289G>A	c.(3289-3291)Gag>Aag	p.E1097K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1097					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGAGAGCGAGGCCACCGC	0.522																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3289-3291)GAG>AAG		microtubule-associated protein 1B							52.0	54.0	53.0					5																	71492471		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492471G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3289G>A	5.37:g.71492471G>A	ENSP00000296755:p.Glu1097Lys					MAP1B_uc010iyw.1_Missense_Mutation_p.E1114K|MAP1B_uc010iyx.1_Missense_Mutation_p.E971K|MAP1B_uc010iyy.1_Missense_Mutation_p.E971K	p.E1097K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3530	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1097					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3289G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648232	0.47258	.	.	ENSG00000131711	ENST00000296755	T	0.10763	2.84	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000003	T	0.08313	0.0207	L	0.27053	0.805	0.51482	D	0.999922	P;P	0.40107	0.703;0.703	B;B	0.23150	0.044;0.044	T	0.13737	-1.0498	10	0.72032	D	0.01	-25.8578	19.3805	0.94530	0.0:0.0:1.0:0.0	.	971;1097	A2BDK6;P46821	.;MAP1B_HUMAN	K	1097	ENSP00000296755:E1097K	ENSP00000296755:E1097K	E	+	1	0	MAP1B	71528227	1.000000	0.71417	0.976000	0.42696	0.717000	0.41224	6.050000	0.71063	2.579000	0.87056	0.655000	0.94253	GAG		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		8	14	0	0	0	0.004482	0	8	14		
CAMK4	814	broad.mit.edu	37	5	110784840	110784840	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:110784840C>G	ENST00000282356.4	+	7	962	c.564C>G	c.(562-564)ctC>ctG	p.L188L	CAMK4_ENST00000512453.1_Silent_p.L188L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTTTGGACTCTCTAAAATTG	0.299																																						uc011cvj.1		NaN																	0				ovary(3)|lung(2)	5						c.(562-564)CTC>CTG		calcium/calmodulin-dependent protein kinase IV							59.0	62.0	61.0					5																	110784840		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110784840C>G	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.564C>G	5.37:g.110784840C>G						CAMK4_uc003kpf.2_Silent_p.L188L|CAMK4_uc010jbv.2_5'UTR	p.L188L	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	8	663	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	188			Protein kinase.		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.564C>G	CCDS4103.1																																																																																				0.299	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2		NM_001744		9	29	0	0	0	0.004482	0	9	29		
FAM170A	340069	broad.mit.edu	37	5	118969677	118969677	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:118969677C>A	ENST00000515256.1	+	3	406	c.234C>A	c.(232-234)gaC>gaA	p.D78E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	78					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TACATCGAGACAGCCCCCAGC	0.502																																						uc003ksm.2		NaN																	0				skin(1)	1						c.(232-234)GAC>GAA		family with sequence similarity 170, member A							81.0	86.0	85.0					5																	118969677		1978	4165	6143	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118969677C>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.234C>A	5.37:g.118969677C>A	ENSP00000422684:p.Asp78Glu					FAM170A_uc003ksl.2_Missense_Mutation_p.D78E|FAM170A_uc003ksn.2_Missense_Mutation_p.D78E|FAM170A_uc003kso.2_Missense_Mutation_p.D31E	p.D78E	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	444	+			78					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.234C>A		.	.	.	.	.	.	.	.	.	.	C	9.973	1.226033	0.22542	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.28895	1.59;1.59	4.35	-2.08	0.07254	.	0.192968	0.36338	N	0.002651	T	0.21468	0.0517	M	0.67953	2.075	0.09310	N	1	B;B;B	0.22909	0.077;0.011;0.027	B;B;B	0.20767	0.031;0.018;0.031	T	0.13845	-1.0494	9	.	.	.	-7.1068	1.0475	0.01572	0.1531:0.3175:0.15:0.3794	.	31;78;78	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	E	31;78;78	ENSP00000422684:D78E;ENSP00000423697:D78E	.	D	+	3	2	FAM170A	118997576	0.736000	0.28164	0.000000	0.03702	0.002000	0.02628	0.094000	0.15107	-0.434000	0.07275	-0.136000	0.14681	GAC		0.502	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1		NM_182761		7	35	1	0	0.00198382	0.001984	0.00201582	7	35		
RAPGEF6	51735	broad.mit.edu	37	5	130834176	130834176	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:130834176T>C	ENST00000509018.1	-	12	1584	c.1379A>G	c.(1378-1380)aAa>aGa	p.K460R	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.K460R|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K460R|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.K460R|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.K175R|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K510R|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K460R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K460R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	460	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCCAATAGTTTGATCCCAAC	0.318																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1378-1380)AAA>AGA		PDZ domain-containing guanine nucleotide							80.0	85.0	83.0					5																	130834176		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130834176T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1379A>G	5.37:g.130834176T>C	ENSP00000421684:p.Lys460Arg					RAPGEF6_uc003kvp.1_Missense_Mutation_p.K510R|RAPGEF6_uc003kvo.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdi.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdj.1_Missense_Mutation_p.K460R|RAPGEF6_uc003kvq.2_Missense_Mutation_p.K177R|RAPGEF6_uc003kvr.2_Missense_Mutation_p.K460R|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.K460R	p.K460R	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	12	1585	-			460			N-terminal Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1379A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429627	0.43122	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.46	5.46	0.80206	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	L	0.39397	1.21	0.80722	D	1	B;B;B;B;P;B;B	0.35700	0.222;0.337;0.044;0.055;0.516;0.185;0.12	B;B;B;B;B;B;B	0.42245	0.22;0.381;0.061;0.05;0.313;0.17;0.291	T	0.54009	-0.8357	10	0.51188	T	0.08	.	15.5307	0.75960	0.0:0.0:0.0:1.0	.	460;460;460;175;510;460;460	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	R	460;460;460;460;460;175;460;460;510	ENSP00000421684:K460R;ENSP00000309298:K460R;ENSP00000426081:K460R;ENSP00000296859:K460R;ENSP00000426910:K175R;ENSP00000311419:K460R;ENSP00000425389:K460R;ENSP00000426948:K510R	ENSP00000426948:K510R	K	-	2	0	RAPGEF6;FNIP1	130862075	1.000000	0.71417	0.902000	0.35471	0.402000	0.30811	5.934000	0.70138	2.042000	0.60477	0.533000	0.62120	AAA		0.318	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340		64	23	0	0	0	0.00361	0	64	23		
CSF1R	1436	broad.mit.edu	37	5	149449851	149449851	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:149449851T>G	ENST00000286301.3	-	9	1504	c.1213A>C	c.(1213-1215)Agc>Cgc	p.S405R		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	405	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATATGACGCTTACCTCTGGG	0.597																																						uc003lrl.2		NaN																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1213-1215)AGC>CGC		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						88.0	85.0	86.0					5																	149449851		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149449851T>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1213A>C	5.37:g.149449851T>G	ENSP00000286301:p.Ser405Arg					CSF1R_uc011dcd.1_Missense_Mutation_p.S257R|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.S405R	p.S405R	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	1408	-			405			Ig-like C2-type 5.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1213A>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	9.856	1.194921	0.22037	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.27402	1.67	5.89	0.331	0.15933	Immunoglobulin-like (1);	1.490830	0.03899	N	0.279969	T	0.15305	0.0369	N	0.11201	0.11	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.012;0.004	T	0.20273	-1.0280	10	0.13470	T	0.59	.	4.5903	0.12304	0.0:0.1946:0.3513:0.4541	.	257;405	B4E2Y8;P07333	.;CSF1R_HUMAN	R	405;257	ENSP00000286301:S405R	ENSP00000286301:S405R	S	-	1	0	CSF1R	149430044	0.000000	0.05858	0.001000	0.08648	0.448000	0.32197	0.429000	0.21412	0.395000	0.25257	0.459000	0.35465	AGC		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		32	21	0	0	0	0.007835	0	32	21		
ECI2	10455	broad.mit.edu	37	6	4133898	4133898	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:4133898C>T	ENST00000380118.3	-	2	134	c.98G>A	c.(97-99)aGa>aAa	p.R33K	ECI2_ENST00000361538.2_Missense_Mutation_p.R3K|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000465828.1_Missense_Mutation_p.R3K|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000380125.2_Missense_Mutation_p.R3K|RP3-400B16.1_ENST00000427049.2_lincRNA			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	33					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CATTGCTGTTCTATTCATGTG	0.413																																						uc003mwf.2		NaN																	0					0						c.(97-99)AGA>AAA		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							169.0	155.0	160.0					6																	4133898		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4133898C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.98G>A	6.37:g.4133898C>T	ENSP00000369461:p.Arg33Lys					PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.R3K|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA|uc003mwg.1_5'Flank	p.R33K	NM_206836	NP_996667	O75521	ECI2_HUMAN			2	135	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	33					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.98G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979382	0.34942	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.22336	2.59;2.6;2.6;2.6;1.96	6.17	0.774	0.18521	.	15.162600	0.00424	N	0.000060	T	0.01940	0.0061	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	10	0.02654	T	1	.	2.7702	0.05332	0.1233:0.5235:0.1199:0.2332	.	33	O75521	ECI2_HUMAN	K	33;3;3;3;80	ENSP00000369461:R33K;ENSP00000369468:R3K;ENSP00000354737:R3K;ENSP00000420309:R3K;ENSP00000417459:R80K	ENSP00000354737:R3K	R	-	2	0	ECI2	4078897	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.528000	0.23002	-0.140000	0.11394	-0.169000	0.13324	AGA		0.413	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4		NM_006117		48	32	0	0	0	0.00361	0	48	32		
HIVEP1	3096	broad.mit.edu	37	6	12120592	12120592	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:12120592C>T	ENST00000379388.2	+	4	896	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	188					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACTACGTCCCCCTCCTATA	0.448																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(562-564)TCC>TCT		human immunodeficiency virus type I enhancer							109.0	101.0	104.0					6																	12120592		2038	4206	6244	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120592C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.564C>T	6.37:g.12120592C>T						HIVEP1_uc011diq.1_RNA	p.S188S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	743	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	188					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.564C>T	CCDS43426.1																																																																																				0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		31	45	0	0	0	0.003755	0	31	45		
CLIC5	53405	broad.mit.edu	37	6	45917028	45917028	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:45917028G>T	ENST00000185206.6	-	3	893	c.741C>A	c.(739-741)atC>atA	p.I247I	CLIC5_ENST00000544153.1_Silent_p.I88I|CLIC5_ENST00000339561.6_Silent_p.I88I	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	247					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGAACTCCTCGATCTTATTGA	0.532																																						uc003oxv.3		NaN																	0				ovary(1)|skin(1)	2						c.(739-741)ATC>ATA		chloride intracellular channel 5 isoform a							152.0	146.0	148.0					6																	45917028		2203	4300	6503	SO:0001819	synonymous_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917028G>T	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.741C>A	6.37:g.45917028G>T						CLIC5_uc003oxu.3_Silent_p.I88I|CLIC5_uc003oxx.2_Silent_p.I88I	p.I247I	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			3	847	-			247					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	37	c.741C>A	CCDS47438.1																																																																																				0.532	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1				29	73	1	0	8.4185e-14	0.012213	9.47082e-14	29	73		
NMBR	4829	broad.mit.edu	37	6	142397093	142397093	+	Missense_Mutation	SNP	G	G	A	rs376623534		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:142397093G>A	ENST00000258042.1	-	3	1005	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	289					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGAAAGACCGATACATGTAA	0.428																																						uc003qiu.2		NaN																	0				central_nervous_system(3)|breast(1)	4						c.(865-867)CGG>TGG		neuromedin B receptor		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	78.0	70.0	72.0		865	1.9	0.9	6		72	0,8600		0,0,4300	no	missense	NMBR	NM_002511.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	289/391	142397093	2,13004	2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397093G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.865C>T	6.37:g.142397093G>A	ENSP00000258042:p.Arg289Trp						p.R289W	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1006	-	Breast(32;0.155)		289			Extracellular (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.865C>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689902	0.68271	4.54E-4	0.0	ENSG00000135577	ENST00000258042	T	0.72942	-0.7	5.11	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79713	-0.1688	10	0.72032	D	0.01	-20.5329	14.6046	0.68469	0.0:0.0:0.3644:0.6356	.	289	P28336	NMBR_HUMAN	W	289	ENSP00000258042:R289W	ENSP00000258042:R289W	R	-	1	2	NMBR	142438786	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	3.466000	0.53071	0.115000	0.18071	0.655000	0.94253	CGG		0.428	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1				23	27	0	0	0	0.002299	0	23	27		
STXBP5	134957	broad.mit.edu	37	6	147648378	147648378	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:147648378C>T	ENST00000321680.6	+	18	2046	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	STXBP5_ENST00000367481.3_Silent_p.P682P|STXBP5_ENST00000179882.6_Silent_p.P353P|STXBP5_ENST00000367480.3_Silent_p.P682P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	682					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAGAGAACCCCGATCTCCTC	0.418																																						uc003qlz.2		NaN																	0					0						c.(2044-2046)CCC>CCT		syntaxin binding protein 5 (tomosyn) isoform b							104.0	99.0	101.0					6																	147648378		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648378C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2046C>T	6.37:g.147648378C>T						STXBP5_uc010khz.1_Silent_p.P682P|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.P353P|STXBP5_uc003qma.2_Silent_p.P29P	p.P682P	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2207	+		Ovarian(120;0.0164)	682			WD 10.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2046C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389409	0.25118	.	.	ENSG00000164506	ENST00000367475	T	0.27256	1.68	6.07	-0.87	0.10646	.	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16100	-1.0414	7	0.42905	T	0.14	.	1.4337	0.02339	0.2027:0.354:0.093:0.3502	.	.	.	.	S	24	ENSP00000356445:P24S	ENSP00000356445:P24S	P	+	1	0	STXBP5	147690071	0.009000	0.17119	0.954000	0.39281	0.983000	0.72400	-1.384000	0.02542	-0.165000	0.10908	0.585000	0.79938	CCG		0.418	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1				27	23	0	0	0	0.003271	0	27	23		
GLCCI1	113263	broad.mit.edu	37	7	8110599	8110599	+	Silent	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:8110599C>A	ENST00000223145.5	+	6	1572	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	339						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCTCATTACCGGAGCAGTAG	0.493																																						uc003srk.2		NaN																	0					0						c.(1015-1017)CGG>AGG		glucocorticoid induced transcript 1							123.0	109.0	113.0					7																	8110599		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8110599C>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1015C>A	7.37:g.8110599C>A							p.R339R	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	6	1574	+		Ovarian(82;0.0608)	339					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.1015C>A	CCDS34601.1																																																																																				0.493	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1		NM_138426		21	60	1	0	2.70639e-06	0.002299	2.81823e-06	21	60		
UPK3B	80761	broad.mit.edu	37	7	76140331	76140331	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:76140331C>T	ENST00000257632.5	+	1	490	c.362C>T	c.(361-363)gCc>gTc	p.A121V	UPK3B_ENST00000394849.1_Missense_Mutation_p.A66V|UPK3B_ENST00000419923.2_Missense_Mutation_p.A121V|UPK3B_ENST00000334348.3_Missense_Mutation_p.A66V|UPK3B_ENST00000443097.2_Missense_Mutation_p.A66V|UPK3B_ENST00000448265.3_Missense_Mutation_p.A121V			Q9BT76	UPK3B_HUMAN	uroplakin 3B	121					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CTTGCCAGCGCCAGCGATACC	0.632																																						uc003ufq.2		NaN																	0				central_nervous_system(1)	1						c.(361-363)GCC>GTC		uroplakin 3B isoform a							12.0	11.0	11.0					7																	76140331		2186	4270	6456	SO:0001583	missense	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76140331C>T	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.362C>T	7.37:g.76140331C>T	ENSP00000257632:p.Ala121Val					UPK3B_uc003ufo.2_Missense_Mutation_p.A66V|UPK3B_uc010ldk.1_Missense_Mutation_p.A66V	p.A121V	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN			1	587	+		Myeloproliferative disorder(862;0.204)	121			Lumenal (Potential).		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	c.362C>T	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	8.014	0.758174	0.15846	.	.	ENSG00000243566	ENST00000334348;ENST00000419923;ENST00000448265;ENST00000443097;ENST00000257632;ENST00000394849	T;T;T;T;T;T	0.55760	0.5;1.29;1.29;0.5;1.29;1.3	4.94	0.77	0.18497	.	1.083580	0.07131	N	0.845585	T	0.31765	0.0807	N	0.12182	0.205	0.09310	N	1	B;B;B	0.18610	0.029;0.017;0.003	B;B;B	0.16289	0.013;0.015;0.007	T	0.19745	-1.0296	10	0.30854	T	0.27	0.0113	5.8844	0.18874	0.0:0.5324:0.29:0.1775	.	66;121;66	Q9BT76-2;Q9BT76;A6NHH5	.;UPK3B_HUMAN;.	V	66;121;121;66;121;66	ENSP00000334938:A66V;ENSP00000441602:A121V;ENSP00000441284:A121V;ENSP00000444585:A66V;ENSP00000257632:A121V;ENSP00000378319:A66V	ENSP00000257632:A121V	A	+	2	0	UPK3B	75978267	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.648000	0.24828	-0.162000	0.10964	0.407000	0.27541	GCC		0.632	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2		NM_030570		5	19	0	0	0	0.000602	0	5	19		
SLC25A40	55972	broad.mit.edu	37	7	87476434	87476434	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:87476434C>A	ENST00000341119.5	-	8	807	c.461G>T	c.(460-462)gGt>gTt	p.G154V		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	154					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AGTTACTGCACCAACTAATAC	0.303																																						uc003uje.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(460-462)GGT>GTT		mitochondrial carrier family protein							118.0	123.0	121.0					7																	87476434		2203	4300	6503	SO:0001583	missense	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476434C>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.461G>T	7.37:g.87476434C>A	ENSP00000344831:p.Gly154Val						p.G154V	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			8	812	-	Esophageal squamous(14;0.00202)		154			Helical; Name=3; (Potential).|Solcar 2.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.461G>T	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440427	0.25900	.	.	ENSG00000075303	ENST00000341119	T	0.76578	-1.03	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.104376	0.64402	D	0.000003	T	0.62196	0.2408	N	0.11154	0.105	0.80722	D	1	B	0.20988	0.05	B	0.28011	0.085	T	0.57917	-0.7728	10	0.17369	T	0.5	.	14.9718	0.71241	0.2081:0.7919:0.0:0.0	.	154	Q8TBP6	S2540_HUMAN	V	154	ENSP00000344831:G154V	ENSP00000344831:G154V	G	-	2	0	SLC25A40	87314370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.962000	0.56766	2.616000	0.88540	0.650000	0.86243	GGT		0.303	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5		NM_018843		116	108	1	0	5.1993e-48	0.00361	6.18029e-48	116	108		
TECPR1	25851	broad.mit.edu	37	7	97862830	97862830	+	Silent	SNP	C	C	G	rs371532016		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97862830C>G	ENST00000447648.2	-	11	1874	c.1575G>C	c.(1573-1575)ccG>ccC	p.P525P	TECPR1_ENST00000542604.1_Silent_p.P455P|TECPR1_ENST00000379795.3_Silent_p.P525P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	525					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACCCCATACGGCTCCTCCA	0.667																																						uc003upg.2		NaN																	0				pancreas(1)	1						c.(1573-1575)CCG>CCC		tectonin beta-propeller repeat containing 1							15.0	19.0	18.0					7																	97862830		1959	4140	6099	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97862830C>G		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1575G>C	7.37:g.97862830C>G						TECPR1_uc003uph.1_Silent_p.P455P	p.P525P	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			11	1780	-			525					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.1575G>C	CCDS47648.1																																																																																				0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395		5	12	0	0	0	0.000602	0	5	12		
BAIAP2L1	55971	broad.mit.edu	37	7	97922840	97922840	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97922840A>G	ENST00000005260.8	-	14	1744	c.1529T>C	c.(1528-1530)aTt>aCt	p.I510T		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	510	Binds F-actin.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTCATCGAATGATGGGTGC	0.567																																						uc003upj.2		NaN																	0				ovary(1)	1						c.(1528-1530)ATT>ACT		BAI1-associated protein 2-like 1							126.0	123.0	124.0					7																	97922840		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97922840A>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1529T>C	7.37:g.97922840A>G	ENSP00000005260:p.Ile510Thr						p.I510T	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1792	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		510	Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.		Binds F-actin.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1529T>C	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276706	0.80580	.	.	ENSG00000006453	ENST00000005260	T	0.39997	1.05	6.06	6.06	0.98353	.	0.045192	0.85682	D	0.000000	T	0.65554	0.2702	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69007	-0.5259	10	0.87932	D	0	-10.1143	15.7905	0.78357	1.0:0.0:0.0:0.0	.	510	Q9UHR4	BI2L1_HUMAN	T	510	ENSP00000005260:I510T	ENSP00000005260:I510T	I	-	2	0	AC093799.1	97760776	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	8.312000	0.89976	2.324000	0.78689	0.533000	0.62120	ATT		0.567	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1		NM_018842		153	90	0	0	0	0.00361	0	153	90		
EXOC4	60412	broad.mit.edu	37	7	133314839	133314839	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:133314839T>C	ENST00000253861.4	+	10	1488	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	EXOC4_ENST00000545148.1_Missense_Mutation_p.F97L|EXOC4_ENST00000539845.1_Missense_Mutation_p.F386L|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	487					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGGAACAAAATTTGTCTGCAA	0.343																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1459-1461)TTT>CTT		SEC8 protein isoform a							133.0	127.0	129.0					7																	133314839		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133314839T>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1459T>C	7.37:g.133314839T>C	ENSP00000253861:p.Phe487Leu					EXOC4_uc011kpo.1_Missense_Mutation_p.F386L|EXOC4_uc003vrl.2_Missense_Mutation_p.F97L|EXOC4_uc011kpp.1_Missense_Mutation_p.F19L	p.F487L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			10	1494	+		Esophageal squamous(399;0.129)	487					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1459T>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689273	0.29962	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	N	0.16166	0.38	0.80722	D	1	B;B;B	0.18166	0.026;0.019;0.015	B;B;B	0.13407	0.005;0.002;0.009	T	0.34004	-0.9846	9	0.02654	T	1	.	16.2196	0.82251	0.0:0.0:0.0:1.0	.	19;97;487	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	L	487;106;386;97	.	ENSP00000253861:F487L	F	+	1	0	EXOC4	132965379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.323000	0.79105	2.308000	0.77769	0.533000	0.62120	TTT		0.343	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		104	61	0	0	0	0.00361	0	104	61		
CNTNAP2	26047	broad.mit.edu	37	7	147869367	147869367	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:147869367G>A	ENST00000361727.3	+	18	3323	c.2807G>A	c.(2806-2808)tGc>tAc	p.C936Y	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	936	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCTGGGCTGCATCCGCTCC	0.532										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2806-2808)TGC>TAC		cell recognition molecule Caspr2 precursor							64.0	63.0	64.0					7																	147869367		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869367G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2807G>A	7.37:g.147869367G>A	ENSP00000354778:p.Cys936Tyr	HNSCC(39;0.1)					p.C936Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3323	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	936			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2807G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610769	0.87258	.	.	ENSG00000174469	ENST00000361727	D	0.87412	-2.25	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98681	1.0692	10	0.87932	D	0	.	17.7816	0.88526	0.0:0.0:1.0:0.0	.	936	Q9UHC6	CNTP2_HUMAN	Y	936	ENSP00000354778:C936Y	ENSP00000354778:C936Y	C	+	2	0	CNTNAP2	147500300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.694000	0.98686	2.552000	0.86080	0.655000	0.94253	TGC		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				9	65	0	0	0	0.004482	0	9	65		
SORBS3	10174	broad.mit.edu	37	8	22412401	22412401	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:22412401C>T	ENST00000240123.7	+	3	511	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SORBS3_ENST00000523402.1_Missense_Mutation_p.S43F	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	43					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AATGGTGGCTCCAACACCCTT	0.657																																						uc003xbv.2		NaN																	0					0						c.(127-129)TCC>TTC		sorbin and SH3 domain containing 3 isoform 1							68.0	70.0	69.0					8																	22412401		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22412401C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.128C>T	8.37:g.22412401C>T	ENSP00000240123:p.Ser43Phe					SORBS3_uc011kzk.1_RNA	p.S43F	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	3	468	+		Prostate(55;0.0421)|Breast(100;0.102)	43					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.128C>T	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544902	0.86022	.	.	ENSG00000120896	ENST00000240123;ENST00000523402	T	0.14144	2.53	5.5	5.5	0.81552	.	0.000000	0.47093	D	0.000247	T	0.27349	0.0671	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.00896	-1.1523	10	0.87932	D	0	-28.8875	14.9029	0.70692	0.0:1.0:0.0:0.0	.	43	O60504	VINEX_HUMAN	F	43	ENSP00000240123:S43F	ENSP00000240123:S43F	S	+	2	0	SORBS3	22468346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.120000	0.57897	2.574000	0.86865	0.655000	0.94253	TCC		0.657	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3		NM_005775		39	57	0	0	0	0.010771	0	39	57		
ZFHX4	79776	broad.mit.edu	37	8	77766952	77766952	+	Missense_Mutation	SNP	G	G	A	rs373737718		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:77766952G>A	ENST00000521891.2	+	10	8243	c.7795G>A	c.(7795-7797)Ggt>Agt	p.G2599S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2554S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2573S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2554S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGGAATAGCGGTGAAGACCA	0.458										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7660-7662)GGT>AGT		zinc finger homeodomain 4		G	SER/GLY	0,3802		0,0,1901	50.0	49.0	50.0		7795	4.5	0.4	8		50	1,8223		0,1,4111	no	missense	ZFHX4	NM_024721.4	56	0,1,6012	AA,AG,GG		0.0122,0.0,0.0083	benign	2599/3617	77766952	1,12025	1901	4112	6013	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766952G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7795G>A	8.37:g.77766952G>A	ENSP00000430497:p.Gly2599Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G2599S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2554S	p.G2554S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8047	+			2554					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7660G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373949	0.11409	0.0	1.22E-4	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.7;0.67;0.66	5.38	4.5	0.54988	Homeodomain-like (1);	0.000000	0.42821	U	0.000654	T	0.32704	0.0838	N	0.20986	0.625	0.47698	D	0.999499	B;B;B	0.33549	0.165;0.255;0.417	B;B;B	0.27715	0.081;0.082;0.082	T	0.09207	-1.0685	10	0.28530	T	0.3	.	15.7364	0.77846	0.0:0.0:0.8627:0.1373	.	2554;2554;2599	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2599;2583;2554;2554;2573	ENSP00000430497:G2599S;ENSP00000399605:G2554S;ENSP00000050961:G2554S;ENSP00000430848:G2573S	ENSP00000050961:G2554S	G	+	1	0	ZFHX4	77929507	1.000000	0.71417	0.353000	0.25747	0.090000	0.18270	3.477000	0.53151	1.488000	0.48433	0.650000	0.86243	GGT		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		12	29	0	0	0	0.001368	0	12	29		
SLC10A5	347051	broad.mit.edu	37	8	82606405	82606405	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:82606405T>G	ENST00000518568.1	-	1	2004	c.803A>C	c.(802-804)cAt>cCt	p.H268P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	268						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AACAGGAATATGGAATGTACC	0.363																																						uc011lfs.1		NaN																	0					0						c.(802-804)CAT>CCT		solute carrier family 10 (sodium/bile acid							75.0	77.0	76.0					8																	82606405		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606405T>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.803A>C	8.37:g.82606405T>G	ENSP00000428612:p.His268Pro						p.H268P	NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN			1	803	-			268			Extracellular (Potential).		B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.803A>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	6.916	0.538713	0.13250	.	.	ENSG00000253598	ENST00000518568	T	0.11495	2.77	6.01	2.39	0.29439	.	0.391143	0.21847	N	0.068240	T	0.18593	0.0446	L	0.45051	1.395	0.31201	N	0.699733	D	0.65815	0.995	D	0.63283	0.913	T	0.05354	-1.0890	10	0.38643	T	0.18	-3.6282	8.32	0.32124	0.0:0.2296:0.0:0.7704	.	268	Q5PT55	NTCP5_HUMAN	P	268	ENSP00000428612:H268P	ENSP00000428612:H268P	H	-	2	0	SLC10A5	82768960	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	3.604000	0.54081	0.183000	0.20059	-0.334000	0.08254	CAT		0.363	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1		XM_294493		4	123	0	0	0	0.000602	0	4	123		
STK3	6788	broad.mit.edu	37	8	99468111	99468111	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:99468111C>G	ENST00000419617.2	-	11	1575	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H	STK3_ENST00000523601.1_Missense_Mutation_p.D507H	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	479	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCATCGCATCCAGAATGGGC	0.423																																						uc003yip.2		NaN																	0				lung(3)|ovary(1)	4						c.(1435-1437)GAT>CAT		serine/threonine kinase 3							125.0	116.0	119.0					8																	99468111		1886	4112	5998	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99468111C>G	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1435G>C	8.37:g.99468111C>G	ENSP00000390500:p.Asp479His					STK3_uc003yio.2_Missense_Mutation_p.D507H	p.D479H	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	11	1576	-	Breast(36;2.4e-06)	Breast(495;0.106)	479			SARAH.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1435G>C	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642515	0.67244	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.74421	-0.83;-0.84	5.51	5.51	0.81932	SARAH domain (1);SARAH (1);	0.255981	0.36234	N	0.002703	D	0.85128	0.5626	L	0.61036	1.89	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.964;0.972	D	0.85825	0.1388	10	0.87932	D	0	.	19.7945	0.96474	0.0:1.0:0.0:0.0	.	479;507	Q13188;B3KYA7	STK3_HUMAN;.	H	479;507	ENSP00000390500:D479H;ENSP00000429744:D507H	ENSP00000390500:D479H	D	-	1	0	STK3	99537287	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.376000	0.79658	2.746000	0.94184	0.591000	0.81541	GAT		0.423	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1		NM_006281		20	25	0	0	0	0.00278	0	20	25		
RSPO2	340419	broad.mit.edu	37	8	108972969	108972969	+	Silent	SNP	A	A	G	rs113070894		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:108972969A>G	ENST00000276659.5	-	4	980	c.360T>C	c.(358-360)caT>caC	p.H120H	RSPO2_ENST00000378439.2_Silent_p.H57H|RSPO2_ENST00000517939.1_Silent_p.H53H|RSPO2_ENST00000517781.1_Silent_p.H57H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	120					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AACGGCCTCTATGCAAATAAA	0.358																																						uc003yms.2		NaN																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(358-360)CAT>CAC		R-spondin family, member 2 precursor							87.0	81.0	83.0					8																	108972969		2203	4300	6503	SO:0001819	synonymous_variant	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972969A>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.360T>C	8.37:g.108972969A>G						RSPO2_uc003ymq.2_Silent_p.H53H|RSPO2_uc003ymr.2_Silent_p.H57H	p.H120H	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1018	-			120			FU.		B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	ENST00000276659.5	37	c.360T>C	CCDS6307.1																																																																																				0.358	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1		NM_178565		30	46	0	0	0	0.004289	0	30	46		
SLC30A8	169026	broad.mit.edu	37	8	118159254	118159254	+	Missense_Mutation	SNP	C	C	A	rs148043363		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:118159254C>A	ENST00000456015.2	+	2	133	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	45					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACCAGAGGAGCTGGAGTCAGG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17919	0.0		0.001	False		,,,				2504	0.0				Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NaN																	0				ovary(2)|skin(2)	4						c.(133-135)CTG>ATG		solute carrier family 30 member 8		C	,,,,MET/LEU	0,4406		0,0,2203	123.0	112.0	116.0		,,,,133	3.1	0.0	8	dbSNP_134	116	7,8593	5.7+/-21.5	0,7,4293	yes	utr-5,utr-5,utr-5,utr-5,missense	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	,,,,15	0,7,6496	AA,AC,CC		0.0814,0.0,0.0538	,,,,possibly-damaging	,,,,45/370	118159254	7,12999	2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118159254C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.133C>A	8.37:g.118159254C>A	ENSP00000415011:p.Leu45Met					SLC30A8_uc010mcz.2_Translation_Start_Site|SLC30A8_uc011lia.1_Translation_Start_Site|SLC30A8_uc003yog.2_Translation_Start_Site	p.L45M	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		2	363	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		45			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.133C>A	CCDS6322.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.303	1.053539	0.19907	0.0	8.14E-4	ENSG00000164756	ENST00000456015	T	0.65732	-0.17	4.9	3.09	0.35607	.	1.628700	0.03071	N	0.157146	T	0.56891	0.2016	N	0.14661	0.345	0.35148	D	0.769511	P	0.41159	0.74	P	0.45099	0.469	T	0.44636	-0.9315	10	0.48119	T	0.1	0.4696	12.414	0.55483	0.0:0.8428:0.0:0.1572	.	45	Q8IWU4	ZNT8_HUMAN	M	45	ENSP00000415011:L45M	ENSP00000415011:L45M	L	+	1	2	SLC30A8	118228435	0.162000	0.22906	0.045000	0.18777	0.146000	0.21551	0.681000	0.25320	0.376000	0.24707	-0.797000	0.03246	CTG		0.502	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1		NM_173851		43	95	1	0	4.16155e-14	0.00874	4.72392e-14	43	95		
PARP10	84875	broad.mit.edu	37	8	145057980	145057980	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:145057980C>T	ENST00000313028.7	-	8	1872		c.e8-1		PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Splice_Site|PARP10_ENST00000524918.1_Splice_Site	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10						negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGACCTCCTCTGGGGGCAGG	0.632																																						uc003zal.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.e8-1		poly (ADP-ribose) polymerase family, member 10							15.0	16.0	16.0					8																	145057980		2166	4215	6381	SO:0001630	splice_region_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057980C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1778-1G>A	8.37:g.145057980C>T						PARP10_uc003zak.3_Splice_Site_p.E290_splice|PARP10_uc011lku.1_Splice_Site_p.E605_splice|PARP10_uc011lkv.1_Splice_Site|PARP10_uc003zam.2_Splice_Site_p.E584_splice	p.E593_splice	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1886	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							Q8N2I0|Q8WV05|Q96CH7|Q96K72	Splice_Site	SNP	ENST00000313028.7	37	c.1778_splice	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527931	0.27299	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7292	0.57189	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP10	145129968	1.000000	0.71417	0.989000	0.46669	0.153000	0.21895	4.551000	0.60740	2.067000	0.61834	0.479000	0.44913	.		0.632	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789	Intron	9	35	0	0	0	0.008291	0	9	35		
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		10	2	0	0	0	0.00245	0	10	2		
ZCCHC6	79670	broad.mit.edu	37	9	88937354	88937354	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:88937354C>A	ENST00000375963.3	-	14	3086	c.2914G>T	c.(2914-2916)Ggt>Tgt	p.G972C	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.G261C|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G972C|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375957.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	972					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTAGATGACCCTCTCGTTTG	0.408																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(2914-2916)GGT>TGT		zinc finger, CCHC domain containing 6							113.0	112.0	113.0					9																	88937354		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88937354C>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2914G>T	9.37:g.88937354C>A	ENSP00000365130:p.Gly972Cys					ZCCHC6_uc010mqe.2_5'Flank|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.G972C	p.G972C	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			14	3129	-			972			CCHC-type 1.		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.2914G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865261	0.91511	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	D;D;D	0.96522	-4.04;-4.04;-4.04	5.48	5.48	0.80851	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.103030	0.64402	D	0.000003	D	0.97860	0.9297	M	0.68593	2.085	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.98302	1.0519	10	0.87932	D	0	-38.2074	19.5559	0.95347	0.0:1.0:0.0:0.0	.	972	Q5VYS8	TUT7_HUMAN	C	261;972;972	ENSP00000277141:G261C;ENSP00000365128:G972C;ENSP00000365130:G972C	ENSP00000277141:G261C	G	-	1	0	ZCCHC6	88127174	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.320000	0.79064	2.861000	0.98227	0.650000	0.86243	GGT		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		15	36	1	0	3.41278e-10	0.00499	3.77202e-10	15	36		
DAPK1	1612	broad.mit.edu	37	9	90262309	90262309	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:90262309G>T	ENST00000408954.3	+	14	1655	c.1320G>T	c.(1318-1320)gtG>gtT	p.V440V	DAPK1_ENST00000358077.5_Silent_p.V440V|DAPK1_ENST00000491893.1_Silent_p.V440V|DAPK1_ENST00000469640.2_Silent_p.V440V|DAPK1_ENST00000472284.1_Silent_p.V440V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	440					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTTTGGATGTGAAAGACAAGG	0.522									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1318-1320)GTG>GTT		death-associated protein kinase 1							84.0	89.0	87.0					9																	90262309		2071	4199	6270	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90262309G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1320G>T	9.37:g.90262309G>T						DAPK1_uc004ape.2_Silent_p.V440V|DAPK1_uc004apd.2_Silent_p.V440V|DAPK1_uc011ltg.1_Silent_p.V440V|DAPK1_uc011lth.1_Silent_p.V177V|DAPK1_uc004apf.1_5'UTR	p.V440V	NM_004938	NP_004929	P53355	DAPK1_HUMAN			14	1458	+			440			ANK 2.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.1320G>T	CCDS43842.1																																																																																				0.522	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		15	47	1	0	6.94344e-10	0.006122	7.54202e-10	15	47		
CKS2	1164	broad.mit.edu	37	9	91926143	91926143	+	5'UTR	SNP	C	C	T	rs563127195	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:91926143C>T	ENST00000314355.6	+	0	31				MIR3153_ENST00000580744.1_RNA	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2						cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			kidney(1)|large_intestine(1)	2						CTGGGCTGGACGTGGTTTTGT	0.607																																						uc004aqh.2		NaN																	0					0						c.(-66--62)GACGT>GATGT		CDC28 protein kinase 2							32.0	28.0	30.0					9																	91926143		692	1591	2283	SO:0001623	5_prime_UTR_variant	1164				cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity	g.chr9:91926143C>T	X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"""CDC28 protein kinase 2"""			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.-65C>T	9.37:g.91926143C>T						hsa-mir-3153|MI0014180_5'Flank		NM_001827	NP_001818	P33552	CKS2_HUMAN			1	31	+								Q6FGI9|Q6LET5	Translation_Start_Site	SNP	ENST00000314355.6	37	c.-64C>T	CCDS6682.1																																																																																				0.607	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052988.1		NM_001827		7	22	0	0	0	0.001984	0	7	22		
ABL1	25	broad.mit.edu	37	9	133729585	133729585	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:133729585T>G	ENST00000318560.5	+	2	595	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	72	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ACTGTATGATTTTGTGGCCAG	0.488			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NaN		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(214-216)TTT>GTT		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						123.0	122.0	122.0					9																	133729585		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133729585T>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.214T>G	9.37:g.133729585T>G	ENSP00000323315:p.Phe72Val					ABL1_uc004bzv.2_Missense_Mutation_p.F91V	p.F72V	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	2	217	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	72			SH3.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.214T>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.008197	0.93346	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.61274	0.12;0.12	5.61	4.45	0.53987	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	H	0.96748	3.875	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.79108	0.992;0.992	D	0.86181	0.1606	10	0.87932	D	0	.	11.3752	0.49724	0.1357:0.0:0.0:0.8643	.	72;109	P00519;Q59FK4	ABL1_HUMAN;.	V	91;118;72	ENSP00000361423:F91V;ENSP00000323315:F72V	ENSP00000323315:F72V	F	+	1	0	ABL1	132719406	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.993000	0.88291	0.954000	0.37851	0.514000	0.50259	TTT		0.488	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313		4	89	0	0	0	0.009096	0	4	89		
ZCCHC18	644353	broad.mit.edu	37	X	103359015	103359015	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chrX:103359015C>T	ENST00000537356.3	+	2	1627	c.213C>T	c.(211-213)gtC>gtT	p.V71V	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	71							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										TCAATGAGGTCCTGCCAGATT	0.507																																						uc011msh.1		NaN																	0					0						c.(211-213)GTC>GTT		zinc finger, CCHC domain containing 18							71.0	58.0	62.0					X																	103359015		692	1591	2283	SO:0001819	synonymous_variant	644353						nucleic acid binding|zinc ion binding	g.chrX:103359015C>T	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.213C>T	X.37:g.103359015C>T						MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	p.V71V	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN			3	1529	+			71						Silent	SNP	ENST00000537356.3	37	c.213C>T																																																																																					0.507	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1		NM_001143978		24	7	0	0	0	0.003954	0	24	7		
ANGPTL5	253935	broad.mit.edu	37	11	101762080	101762080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:101762080delT	ENST00000334289.3	-	9	1692	c.1097delA	c.(1096-1098)aacfs	p.N367fs		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	367	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AGGTGAGTTGTTTTTGGTCCA	0.348																																						uc001pgl.2		NaN																	0				ovary(1)	1						c.(1096-1098)AACfs		angiopoietin-like 5 precursor							107.0	111.0	110.0					11																	101762080		2203	4299	6502	SO:0001589	frameshift_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762080delT	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1097delA	11.37:g.101762080delT	ENSP00000335255:p.Asn367fs						p.N366fs	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1693	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	366			Fibrinogen C-terminal.		A8K658|Q86VR9	Frame_Shift_Del	DEL	ENST00000334289.3	37	c.1097delA	CCDS8312.1																																																																																				0.348	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1		NM_178127		7	1294	NaN	NaN	NaN	NaN	NaN	7	1294	---	---
MMP20	9313	broad.mit.edu	37	11	102487558	102487558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102487558delT	ENST00000260228.2	-	2	371	c.359delA	c.(358-360)aatfs	p.N120fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	118					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TGTCAAAGTATTTTTTTTCCA	0.398																																						uc001phc.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(358-360)AATfs		matrix metalloproteinase 20 preproprotein							76.0	70.0	72.0					11																	102487558		2203	4299	6502	SO:0001589	frameshift_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487558delT	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.359delA	11.37:g.102487558delT	ENSP00000260228:p.Asn120fs						p.N120fs	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	372	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	120					D3DUA8|Q9H3Q0	Frame_Shift_Del	DEL	ENST00000260228.2	37	c.359delA	CCDS8318.1																																																																																				0.398	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1				8	296	NaN	NaN	NaN	NaN	NaN	8	296	---	---
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102668791_102668793delCAG	ENST00000315274.6	-	1	98_100	c.31_33delCTG	c.(31-33)ctgdel	p.L11del	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	11					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CACCCCAGAACAGCAGCAGCAGC	0.498																																						uc001phi.2		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(31-33)CTGdel		matrix metalloproteinase 1 isoform 1																																				SO:0001651	inframe_deletion	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102668791_102668793delCAG	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.31_33delCTG	11.37:g.102668800_102668802delCAG	ENSP00000322788:p.Leu11del					uc001phh.1_RNA|MMP1_uc010ruv.1_Intron	p.L11del	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	1	174_176	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	11					P08156	In_Frame_Del	DEL	ENST00000315274.6	37	c.31_33delCTG	CCDS8322.1																																																																																				0.498	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1		NM_002421		8	339	NaN	NaN	NaN	NaN	NaN	8	339	---	---
SSH1	54434	broad.mit.edu	37	12	109194663	109194664	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:109194663_109194664delAT	ENST00000326495.5	-	12	1133_1134	c.1040_1041delAT	c.(1039-1041)aatfs	p.N347fs	SSH1_ENST00000360239.3_Frame_Shift_Del_p.N35fs|SSH1_ENST00000551165.1_Frame_Shift_Del_p.N347fs|SSH1_ENST00000326470.5_Frame_Shift_Del_p.N358fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	347	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGAAAAAAATTATCGATTTC	0.351																																						uc001tnm.2		NaN																	0				ovary(4)	4						c.(1039-1041)AATfs		slingshot 1 isoform 1																																				SO:0001589	frameshift_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109194663_109194664delAT	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1040_1041delAT	12.37:g.109194663_109194664delAT	ENSP00000315713:p.Asn347fs					SSH1_uc001tnl.2_Frame_Shift_Del_p.N35fs|SSH1_uc010sxg.1_Frame_Shift_Del_p.N358fs|SSH1_uc001tnn.3_Frame_Shift_Del_p.N347fs	p.N347fs	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			12	1127_1128	-			347			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Frame_Shift_Del	DEL	ENST00000326495.5	37	c.1040_1041delAT	CCDS9121.1																																																																																				0.351	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		NM_018984		36	98	NaN	NaN	NaN	NaN	NaN	36	98	---	---
LRRC16A	55604	broad.mit.edu	37	6	25551263	25551264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:25551263_25551264insA	ENST00000329474.6	+	27	2822_2823	c.2454_2455insA	c.(2455-2457)aaafs	p.K819fs		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	819					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTTTGTTAAAAATGTCCT	0.381																																						uc011djw.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2452-2457)GTTAAAfs		leucine rich repeat containing 16A																																				SO:0001589	frameshift_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551263_25551264insA	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2459dupA	6.37:g.25551268_25551268dupA	ENSP00000331983:p.Lys819fs					LRRC16A_uc010jpx.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc010jpy.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc003nfa.1_Frame_Shift_Ins_p.V172fs	p.V818fs	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			27	2830_2831	+			818_819					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Frame_Shift_Ins	INS	ENST00000329474.6	37	c.2454_2455insA	CCDS54973.1																																																																																				0.381	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640		40	99	NaN	NaN	NaN	NaN	NaN	40	99	---	---
BCLAF1	9774	broad.mit.edu	37	6	136582545	136582545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:136582545delC	ENST00000531224.1	-	12	2867	c.2615delG	c.(2614-2616)ggcfs	p.G872fs	BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.G90fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.G870fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.G821fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.G821fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.G699fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.G823fs|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	872					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCGCCCTCTGCCACGTTGAAA	0.428																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	0				ovary(1)	1						c.(2614-2616)GGCfs		BCL2-associated transcription factor 1 isoform							222.0	222.0	222.0					6																	136582545		2203	4300	6503	SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582545delC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2615delG	6.37:g.136582545delC	ENSP00000435210:p.Gly872fs					BCLAF1_uc011edb.1_Frame_Shift_Del_p.G151fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.G699fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.G821fs|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Frame_Shift_Del_p.G870fs	p.G872fs	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2868	-	Colorectal(23;0.24)		872					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.2615delG	CCDS5177.1																																																																																				0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		81	282	NaN	NaN	NaN	NaN	NaN	81	282	---	---
