#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ZNF438	220929	hgsc.bcm.edu;broad.mit.edu	37	10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A	rs199506130		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	ENST00000361310.3	-	6	1317	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P320S|ZNF438_ENST00000538351.2_Missense_Mutation_p.P281S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	330					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20288	0.0		0.0	False		,,,				2504	0.0															0													98.0	95.0	96.0					10																	31138346		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.988C>T	10.37:g.31138346G>A	ENSP00000354663:p.Pro330Ser		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	1.449	-0.565653	0.03910	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27;3.27;3.27;3.27	5.62	-11.2	0.00127	.	0.803522	0.12069	N	0.502455	T	0.03827	0.0108	N	0.25647	0.755	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.34551	-0.9824	10	0.10902	T	0.67	0.6895	11.386	0.49785	0.1219:0.0868:0.6198:0.1715	.	330;320	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	320;330;330;330;330;320;320;281	ENSP00000333571:P320S;ENSP00000354663:P330S;ENSP00000406934:P330S;ENSP00000412363:P330S;ENSP00000387546:P330S;ENSP00000413060:P320S;ENSP00000410898:P320S;ENSP00000445461:P281S	ENSP00000333571:P320S	P	-	1	0	ZNF438	31178352	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.217000	0.00553	-2.874000	0.00322	-1.087000	0.02190	CCC		0.463	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		24	234	24	234
MS4A7	58475	hgsc.bcm.edu;broad.mit.edu	37	11	60150653	60150653	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	ENST00000300184.3	+	2	235	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000358246.1_Silent_p.S13S|MS4A7_ENST00000534016.1_Silent_p.S13S	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	13						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463																																																0													118.0	105.0	110.0					11																	60150653		2203	4300	6503	SO:0001819	synonymous_variant	58475			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.39C>T	11.37:g.60150653C>T			A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	CCDS7985.1																																																																																				0.463	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			5	87	5	87
CACNA2D4	93589	hgsc.bcm.edu;ucsc.edu	37	12	2017054	2017054	+	Silent	SNP	G	G	A	rs372591570		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:2017054G>A	ENST00000382722.5	-	5	998	c.636C>T	c.(634-636)aaC>aaT	p.N212N	CACNA2D4_ENST00000587995.1_Silent_p.N212N|CACNA2D4_ENST00000585708.1_Silent_p.N148N|CACNA2D4_ENST00000586184.1_Silent_p.N212N|CACNA2D4_ENST00000585732.1_Silent_p.N212N|CACNA2D4_ENST00000588077.1_Silent_p.N148N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	212					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTTGTACACGTTGGTGGGCA	0.627																																					Colon(2;101 179 21030 23310 28141)											0													43.0	45.0	44.0					12																	2017054		2191	4280	6471	SO:0001819	synonymous_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.636C>T	12.37:g.2017054G>A			Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																				0.627	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	90	8	90
RPAP3	79657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	ENST00000005386.3	-	2	208	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31*	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	31										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323																																																0													153.0	142.0	146.0					12																	48096531		2202	4299	6501	SO:0001587	stop_gained	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.93G>A	12.37:g.48096531C>T	ENSP00000005386:p.Trp31*		B4DRW9|Q6PHR5	Nonsense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	37	6.318735	0.97471	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9142	0.88944	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000005386:W31X	W	-	3	0	RPAP3	46382798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.102000	0.77005	2.527000	0.85204	0.650000	0.86243	TGG		0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	41	8	41
MBD6	114785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	ENST00000355673.3	+	6	1207	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_ENST00000431731.2_Missense_Mutation_p.P284L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	284	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672																																																0													31.0	41.0	38.0					12																	57919602		2193	4293	6486	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.851C>T	12.37:g.57919602C>T	ENSP00000347896:p.Pro284Leu		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	0.986	-0.695574	0.03279	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	3.5	0.40072	.	0.989793	0.08167	N	0.987555	T	0.29288	0.0729	N	0.08118	0	0.31258	N	0.693248	B;B	0.24092	0.097;0.001	B;B	0.27262	0.078;0.006	T	0.16719	-1.0393	8	.	.	.	-0.6554	10.9053	0.47076	0.0:1.0:0.0:0.0	.	284;284	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	284	.	.	P	+	2	0	MBD6	56205869	0.716000	0.27956	1.000000	0.80357	0.955000	0.61496	1.395000	0.34520	2.243000	0.73865	0.544000	0.68410	CCT		0.672	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			7	24	7	24
SRGAP1	57522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	ENST00000355086.3	+	6	1239	c.715G>A	c.(715-717)Gca>Aca	p.A239T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	239	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348																																																0													107.0	92.0	97.0					12																	64437269		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.715G>A	12.37:g.64437269G>A	ENSP00000347198:p.Ala239Thr		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594880	0.96602	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.54675	0.56;0.56;2.17	5.56	5.56	0.83823	.	0.000000	0.34750	U	0.003707	T	0.77143	0.4087	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.993	T	0.78231	-0.2284	9	.	.	.	.	19.9239	0.97097	0.0:0.0:1.0:0.0	.	239;199;239	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	T	239;239;199	ENSP00000347198:A239T;ENSP00000350480:A239T;ENSP00000437948:A199T	.	A	+	1	0	SRGAP1	62723536	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.824000	0.86668	2.797000	0.96272	0.563000	0.77884	GCA		0.348	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			42	9	42	9
NAP1L1	4673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	76453623	76453623	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	ENST00000261182.8	-	6	870	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000542344.1_Silent_p.T87T|NAP1L1_ENST00000549596.1_Silent_p.T128T|NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000552342.1_Silent_p.T128T|NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000544816.1_5'UTR	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	128					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308																																																0													86.0	82.0	83.0					12																	76453623		2201	4296	6497	SO:0001819	synonymous_variant	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.384G>A	12.37:g.76453623C>T			B3KNT8	Silent	SNP	ENST00000261182.8	37	CCDS9013.1																																																																																				0.308	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		44	20	44	20
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	76241856	76241856	+	Silent	SNP	A	A	G	rs541700043	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	ENST00000298832.9	+	22	2371	c.2166A>G	c.(2164-2166)gcA>gcG	p.A722A	TTLL5_ENST00000556893.1_Silent_p.A273A|TTLL5_ENST00000554510.1_Silent_p.A231A|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.A736A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	722					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463													A|||	2	0.000399361	0.0	0.0029	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0															0													150.0	152.0	151.0					14																	76241856		2203	4300	6503	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2166A>G	14.37:g.76241856A>G			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1																																																																																				0.463	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		130	175	130	175
ELL3	80237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	ENST00000319359.3	-	3	831	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	64					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632																																																0													85.0	77.0	80.0					15																	44068328		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.190G>A	15.37:g.44068328C>T	ENSP00000320346:p.Gly64Ser		B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361793	0.82353	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.29142	1.58;1.58	5.54	3.64	0.41730	.	0.482751	0.19465	N	0.113609	T	0.29588	0.0738	M	0.65320	2	0.32453	N	0.54521	B;P	0.42203	0.445;0.773	B;B	0.41510	0.298;0.359	T	0.37753	-0.9692	10	0.33141	T	0.24	-16.4817	6.9148	0.24354	0.0:0.7302:0.178:0.0919	.	64;18	Q9HB65;B3KQ66	ELL3_HUMAN;.	S	64;94	ENSP00000320346:G64S;ENSP00000404209:G94S	ENSP00000320346:G64S	G	-	1	0	ELL3	41855620	0.991000	0.36638	0.999000	0.59377	0.979000	0.70002	0.970000	0.29383	1.327000	0.45338	0.563000	0.77884	GGT		0.632	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		31	44	31	44
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	48729544	48729544	+	Silent	SNP	G	G	T	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	ENST00000316623.5	-	52	6809	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2118					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423																																																0			GRCh37	CM074799|CS971734	FBN1	M|S	rs112989722						71.0	72.0	72.0					15																	48729544		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6354C>A	15.37:g.48729544G>T			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			32	9	32	9
PELP1	27043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	4578457	4578457	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	ENST00000574876.1	-	11	1208	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000436683.2_Silent_p.L250L|PELP1_ENST00000301396.4_Silent_p.L541L|PELP1_ENST00000572293.1_Silent_p.L447L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	397					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607																																																0													31.0	34.0	33.0					17																	4578457		1962	4142	6104	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1191G>C	17.37:g.4578457C>G			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																				0.607	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		11	25	11	25
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	GRCh37	CM004907	TP53	M							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	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;	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		86	10	86	10
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	ENST00000268712.3	-	30	4327	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1357	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453																																																0													179.0	171.0	174.0					17																	15974805		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4070A>G	17.37:g.15974805T>C	ENSP00000268712:p.Gln1357Arg		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657488	0.47467	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	T;T	0.53423	0.62;0.62	5.37	5.37	0.77165	.	0.051558	0.85682	D	0.000000	T	0.61949	0.2388	L	0.47716	1.5	0.80722	D	1	D;D;P;P	0.65815	0.994;0.995;0.678;0.784	D;D;B;B	0.75020	0.985;0.978;0.219;0.391	T	0.65113	-0.6247	10	0.87932	D	0	-11.4745	14.5355	0.67958	0.0:0.0:0.0:1.0	.	168;1264;1357;1373	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	R	1357;1373;1264	ENSP00000268712:Q1357R;ENSP00000379192:Q1373R	ENSP00000268712:Q1357R	Q	-	2	0	NCOR1	15915530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.015000	0.59207	0.460000	0.39030	CAA		0.453	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		253	49	253	49
ACLY	47	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	ENST00000352035.2	-	23	2678	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	850					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592																																					Colon(64;807 1396 15971 30971)											0													60.0	56.0	57.0					17																	40030158		2203	4300	6503	SO:0001587	stop_gained	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2548C>T	17.37:g.40030158G>A	ENSP00000253792:p.Gln850*		B4DIM0|B4E3P0|Q13037|Q9BRL0	Nonsense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201899	0.98704	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	850;904;840;579;840	.	ENSP00000253792:Q850X	Q	-	1	0	ACLY	37283684	1.000000	0.71417	0.969000	0.41365	0.639000	0.38242	9.720000	0.98763	2.814000	0.96858	0.655000	0.94253	CAG		0.592	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		22	89	22	89
LPO	4025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	ENST00000262290.4	+	12	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_ENST00000421678.2_Missense_Mutation_p.G516D|LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000582328.1_Missense_Mutation_p.G516D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	599					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572																																																0													87.0	82.0	84.0					17																	56344812		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1796G>A	17.37:g.56344812G>A	ENSP00000262290:p.Gly599Asp		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266209	0.01433	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71934	-0.61;-0.61;-0.61	5.11	-1.98	0.07480	.	0.708178	0.14385	N	0.322899	T	0.19287	0.0463	N	0.00088	-2.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.40117	-0.9580	10	0.07325	T	0.83	0.6057	1.9911	0.03446	0.2855:0.4019:0.1814:0.1312	.	516;599	E7EMJ3;P22079	.;PERL_HUMAN	D	599;516;540;344	ENSP00000262290:G599D;ENSP00000400245:G516D;ENSP00000445344:G540D	ENSP00000262290:G599D	G	+	2	0	LPO	53699811	0.002000	0.14202	0.020000	0.16555	0.468000	0.32798	0.540000	0.23191	-0.708000	0.05015	0.557000	0.71058	GGT		0.572	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			65	65	65	65
ZNF750	79755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	80789719	80789719	+	Silent	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	ENST00000269394.3	-	2	1445	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	204					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577																																																0													60.0	62.0	61.0					17																	80789719		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.612C>G	17.37:g.80789719G>C			Q9H899	Silent	SNP	ENST00000269394.3	37	CCDS11819.1																																																																																				0.577	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		12	99	12	99
MATK	4145	hgsc.bcm.edu;broad.mit.edu	37	19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A	rs373715019		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	ENST00000310132.6	-	5	709	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682																																																0									VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	42.0	47.0	45.0		314,188,311	3.2	0.0	19		45	0,8600		0,0,4300	no	missense,missense,missense	MATK	NM_002378.3,NM_139354.2,NM_139355.2	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	105/509,63/467,104/508	3784173	1,13005	2203	4300	6503	SO:0001583	missense	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.311C>T	19.37:g.3784173G>A	ENSP00000308734:p.Ala104Val		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	14.60	2.582527	0.46006	2.27E-4	0.0	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.16457	2.34;2.34;2.34	4.25	3.16	0.36331	Src homology-3 domain (3);	0.534815	0.19061	N	0.123770	T	0.16342	0.0393	L	0.40543	1.245	0.09310	N	1	D;D;D	0.60160	0.987;0.987;0.987	B;B;B	0.43194	0.411;0.411;0.411	T	0.06607	-1.0817	10	0.87932	D	0	-21.872	12.3729	0.55263	0.0:0.0:0.8299:0.17	.	104;105;104	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	V	105;104;63	ENSP00000378485:A105V;ENSP00000308734:A104V;ENSP00000378481:A63V	ENSP00000308734:A104V	A	-	2	0	MATK	3735173	0.399000	0.25287	0.026000	0.17262	0.752000	0.42762	3.599000	0.54045	0.839000	0.34971	0.306000	0.20318	GCG		0.682	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		22	27	22	27
SBSN	374897	hgsc.bcm.edu;broad.mit.edu	37	19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	ENST00000452271.2	-	2	1682	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_ENST00000518157.1_Missense_Mutation_p.G209R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	552						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612																																																0													109.0	100.0	103.0					19																	36015811		2203	4300	6503	SO:0001583	missense	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1654G>A	19.37:g.36015811C>T	ENSP00000430242:p.Gly552Arg		A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622927	0.14193	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.51574	0.7;0.8	3.32	1.08	0.20341	.	0.267018	0.19708	U	0.107867	T	0.24699	0.0599	L	0.32530	0.975	0.09310	N	1	B;P	0.36412	0.015;0.552	B;B	0.26693	0.008;0.072	T	0.15407	-1.0438	10	0.13470	T	0.59	.	5.8674	0.18783	0.0:0.742:0.0:0.258	.	209;552	Q6UWP8;E9PBV3	SBSN_HUMAN;.	R	552;209	ENSP00000430242:G552R;ENSP00000428771:G209R	ENSP00000430242:G552R	G	-	1	0	SBSN	40707651	0.774000	0.28592	0.088000	0.20740	0.238000	0.25445	1.227000	0.32576	0.228000	0.21019	0.478000	0.44815	GGA		0.612	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	26	8	26
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	ENST00000374695.3	-	72	9683	c.9604G>A	c.(9604-9606)Gtg>Atg	p.V3202M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3202	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587																																																0													163.0	155.0	158.0					1																	22166420		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9604G>A	1.37:g.22166420C>T	ENSP00000363827:p.Val3202Met		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181562	0.57800	.	.	ENSG00000142798	ENST00000374695	T	0.70869	-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.36066	N	0.002812	D	0.87881	0.6289	M	0.93283	3.4	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.90425	0.4420	10	0.87932	D	0	.	14.8651	0.70409	0.0:0.8557:0.1443:0.0	.	1142;3202	Q59EG0;P98160	.;PGBM_HUMAN	M	3202	ENSP00000363827:V3202M	ENSP00000363827:V3202M	V	-	1	0	HSPG2	22039007	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.922000	0.56462	2.688000	0.91661	0.563000	0.77884	GTG		0.587	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		112	181	112	181
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	247582222	247582222	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	ENST00000336119.3	+	1	872	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000366497.2_Silent_p.P42P|NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562																																																0													53.0	47.0	49.0					1																	247582222		2203	4300	6503	SO:0001819	synonymous_variant	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.126G>A	1.37:g.247582222G>A			B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																				0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		34	52	34	52
ZNF343	79175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	ENST00000278772.4	-	6	1457	c.970C>G	c.(970-972)Cct>Gct	p.P324A	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493																																																0													94.0	73.0	80.0					20																	2464637		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.970C>G	20.37:g.2464637G>C	ENSP00000278772:p.Pro324Ala		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222784	0.39300	.	.	ENSG00000088876	ENST00000278772	T	0.28255	1.62	3.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.84511	2.7	0.80722	D	1	P	0.51449	0.945	P	0.50708	0.648	T	0.47573	-0.9107	9	0.87932	D	0	.	6.8024	0.23758	0.2569:0.0:0.7431:0.0	.	324	Q6P1L6	ZN343_HUMAN	A	324	ENSP00000278772:P324A	ENSP00000278772:P324A	P	-	1	0	ZNF343	2412637	0.995000	0.38212	0.013000	0.15412	0.234000	0.25298	3.664000	0.54525	0.694000	0.31654	0.591000	0.81541	CCT		0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		16	51	16	51
SNRPB2	6629	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	16712312	16712312	+	Splice_Site	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	ENST00000246071.6	+	2	181		c.e2-1		SNRPB2_ENST00000478522.1_Splice_Site|RP4-705D16.3_ENST00000425939.1_RNA|SNRPB2_ENST00000377943.5_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303																																																0													42.0	45.0	44.0					20																	16712312		2198	4275	6473	SO:0001630	splice_region_variant	6629				CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.-35-1G>C	20.37:g.16712312G>C			B2R7J3|D3DW21|Q9UJD4	Splice_Site	SNP	ENST00000246071.6	37	CCDS13123.1																																																																																				0.303	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	Intron	19	104	19	104
LIPI	149998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	ENST00000536861.1	-	2	355	c.356C>G	c.(355-357)aCt>aGt	p.T119S	LIPI_ENST00000344577.2_Missense_Mutation_p.T140S			Q6XZB0	LIPI_HUMAN	lipase, member I	119					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363																																																0													42.0	45.0	44.0					21																	15561431		2203	4300	6503	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.356C>G	21.37:g.15561431G>C	ENSP00000440381:p.Thr119Ser		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	G	17.04	3.286434	0.59867	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981	D;D	0.88431	-2.38;-2.38	5.29	5.29	0.74685	.	0.148899	0.64402	D	0.000015	D	0.91222	0.7234	L	0.39467	1.215	0.27841	N	0.94112	D;D	0.69078	0.997;0.979	D;P	0.70935	0.971;0.835	D	0.83695	0.0179	10	0.15952	T	0.53	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	119;140	G1JSG6;Q6XZB0-2	.;.	S	140;119;14	ENSP00000343331:T140S;ENSP00000440381:T119S	ENSP00000343331:T140S	T	-	2	0	LIPI	14483302	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	4.386000	0.59620	2.644000	0.89710	0.650000	0.86243	ACT		0.363	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		52	66	52	66
DIP2A	23181	hgsc.bcm.edu;broad.mit.edu	37	21	47978201	47978201	+	Silent	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	ENST00000417564.2	+	32	3885	c.3864T>C	c.(3862-3864)atT>atC	p.I1288I	DIP2A_ENST00000318711.7_Silent_p.I1289I|DIP2A_ENST00000400274.1_Silent_p.I1284I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1288					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667																																																0													25.0	29.0	28.0					21																	47978201		2112	4212	6324	SO:0001819	synonymous_variant	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3864T>C	21.37:g.47978201T>C			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																				0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		6	25	6	25
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	ENST00000281513.5	-	25	2891	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368																																																0													68.0	73.0	72.0					2																	15555741		2202	4300	6502	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2866G>C	2.37:g.15555741C>G	ENSP00000281513:p.Glu956Gln		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543259|4.543259	0.86022|0.86022	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	T|.	0.17854|.	2.25|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Secretory pathway Sec39 (1);|.	0.043599|.	0.85682|.	D|.	0.000000|.	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71184|.	0.972|.	T|T	0.65207|0.65207	-0.6224|-0.6224	10|5	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	956|.	A2RRP1|.	NBAS_HUMAN|.	Q|T	956|53	ENSP00000281513:E956Q|.	ENSP00000281513:E956Q|.	E|R	-|-	1|2	0|0	NBAS|NBAS	15473192|15473192	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.905000|0.905000	0.53344|0.53344	5.653000|5.653000	0.67967|0.67967	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		87	108	87	108
VIT	5212	hgsc.bcm.edu;broad.mit.edu	37	2	37035632	37035632	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	ENST00000389975.3	+	14	1664	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	VIT_ENST00000404084.1_Silent_p.N406N|VIT_ENST00000497382.1_Silent_p.N123N|VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000401530.1_Silent_p.N433N|VIT_ENST00000379242.3_Silent_p.N469N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	454	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622																																																0													33.0	29.0	30.0					2																	37035632		2203	4300	6503	SO:0001819	synonymous_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1362C>T	2.37:g.37035632C>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	CCDS54347.1																																																																																				0.622	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				28	58	28	58
KIAA1841	84542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	61315601	61315601	+	Silent	SNP	A	A	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	ENST00000402291.1	+	10	1327	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I|KIAA1841_ENST00000356719.2_Silent_p.I362I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328																																																0													55.0	52.0	53.0					2																	61315601		2203	4299	6502	SO:0001819	synonymous_variant	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1086A>C	2.37:g.61315601A>C			Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	CCDS46296.1																																																																																				0.328	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		35	26	35	26
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	60	21	60
SP100	6672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	ENST00000264052.5	+	8	1100	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K|SP100_ENST00000409341.1_Missense_Mutation_p.E249K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	249					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473																																																0													186.0	170.0	175.0					2																	231314895		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.745G>A	2.37:g.231314895G>A	ENSP00000264052:p.Glu249Lys		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715583	0.48622	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;D;T;T;T	0.87256	1.39;1.29;1.27;1.26;-2.23;-0.68;1.24;1.26	3.99	0.105	0.14535	.	0.480548	0.15561	N	0.255901	D	0.83321	0.5229	L	0.27053	0.805	0.09310	N	1	D;P;D;P;D;P;P;D	0.76494	0.999;0.89;0.996;0.704;0.998;0.89;0.89;0.999	P;B;P;B;P;B;B;P	0.61275	0.886;0.168;0.646;0.199;0.771;0.168;0.168;0.886	T	0.72178	-0.4369	10	0.25751	T	0.34	.	4.6347	0.12518	0.2113:0.3889:0.3998:0.0	.	224;249;214;249;249;249;224;249	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	K	249;224;224;249;249;249;249;214	ENSP00000264052:E249K;ENSP00000399389:E224K;ENSP00000387311:E224K;ENSP00000386404:E249K;ENSP00000386427:E249K;ENSP00000343023:E249K;ENSP00000342729:E249K;ENSP00000386998:E214K	ENSP00000264052:E249K	E	+	1	0	SP100	231023139	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.203000	0.17315	0.002000	0.14630	0.650000	0.86243	GAA		0.473	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		75	61	75	61
SPEF2	79925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	ENST00000356031.3	+	19	2940	c.2786A>G	c.(2785-2787)cAt>cGt	p.H929R	SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.H924R	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	929					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAAATTCATCAAAGCCAT	0.418																																																0													89.0	88.0	89.0					5																	35709170		1864	4099	5963	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2786A>G	5.37:g.35709170A>G	ENSP00000348314:p.His929Arg		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	1.872	-0.459957	0.04508	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.06608	3.42;3.28;3.57	5.23	1.63	0.23807	.	1.138970	0.06591	N	0.751967	T	0.08447	0.0210	L	0.57536	1.79	0.09310	N	1	B;B;B	0.26400	0.148;0.004;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.44236	-0.9341	10	0.21014	T	0.42	.	10.9742	0.47456	0.5115:0.4885:0.0:0.0	.	924;924;929	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	R	929;924;924	ENSP00000348314:H929R;ENSP00000421593:H924R;ENSP00000412125:H924R	ENSP00000348314:H929R	H	+	2	0	SPEF2	35744927	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	0.077000	0.14738	0.308000	0.22923	0.528000	0.53228	CAT		0.418	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		21	147	21	147
MROH2B	133558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	41045922	41045922	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:41045922C>T	ENST00000399564.4	-	18	2212	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	MROH2B_ENST00000506092.2_Missense_Mutation_p.V143M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	588																	GTCCAGGCCACATCACTGATC	0.433																																																0													210.0	203.0	205.0					5																	41045922		1999	4167	6166	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1762G>A	5.37:g.41045922C>T	ENSP00000382476:p.Val588Met		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190617	0.09547	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69806	3.15;-0.43	5.51	-7.03	0.01584	Armadillo-type fold (1);	2.335540	0.01686	N	0.026408	T	0.57080	0.2029	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.49818	-0.8899	10	0.48119	T	0.1	.	13.7173	0.62705	0.0:0.6453:0.0:0.3547	.	588	Q7Z745	HTRB2_HUMAN	M	143;293;588	ENSP00000441504:V143M;ENSP00000382476:V588M	ENSP00000296803:V293M	V	-	1	0	HEATR7B2	41081679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.518000	0.02246	-1.450000	0.01936	-0.982000	0.02568	GTG		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		35	254	35	254
ANKHD1	54882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	ENST00000360839.2	+	31	7277	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2375						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552																																																0													98.0	92.0	94.0					5																	139917069		2203	4300	6503	SO:0001587	stop_gained	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7123C>T	5.37:g.139917069C>T	ENSP00000354085:p.Arg2375*		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.365931|7.365931	0.98238|0.98238	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|.	.|.	.|.	6.08|6.08	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.36991|.	0.0987|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35748|.	-0.9776|.	3|.	.|0.02654	.|T	.|1	.|.	14.9548|14.9548	0.71104|0.71104	0.2808:0.7192:0.0:0.0|0.2808:0.7192:0.0:0.0	.|.	.|.	.|.	.|.	L|X	865;766|2375;2375;2392;1048;914;699;2375;403	.|.	.|ENSP00000396882:R403X	P|R	+|+	2|1	0|2	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897253|139897253	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	3.195000|3.195000	0.51013|0.51013	1.523000|1.523000	0.49018|0.49018	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.552	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		54	8	54	8
CAPN11	11131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	ENST00000398776.1	+	8	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	299	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542																																																0													76.0	77.0	77.0					6																	44143869		2146	4256	6402	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.896C>G	6.37:g.44143869C>G	ENSP00000381758:p.Ser299Cys		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896776	0.72639	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.91945	-2.94;-2.94	3.56	3.56	0.40772	Peptidase C2, calpain, catalytic domain (3);	0.592600	0.14115	N	0.340418	D	0.97266	0.9106	H	0.97365	3.99	0.40149	D	0.976929	D	0.89917	1.0	D	0.68943	0.961	D	0.98510	1.0618	10	0.87932	D	0	.	15.3933	0.74767	0.0:1.0:0.0:0.0	.	299	Q9UMQ6	CAN11_HUMAN	C	299	ENSP00000381758:S299C;ENSP00000441078:S299C	ENSP00000381758:S299C	S	+	2	0	CAPN11	44251847	1.000000	0.71417	0.890000	0.34922	0.232000	0.25224	7.574000	0.82434	2.317000	0.78254	0.462000	0.41574	TCT		0.542	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			22	31	22	31
HTR1B	3351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	ENST00000369947.2	-	1	1334	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	322					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507																																																0													161.0	155.0	157.0					6																	78172156		2203	4300	6503	SO:0001583	missense	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.965C>A	6.37:g.78172156G>T	ENSP00000358963:p.Ala322Asp		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833313	0.50951	.	.	ENSG00000135312	ENST00000369947	T	0.73897	-0.79	5.31	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.96748	3.875	0.80722	D	1	P	0.47350	0.894	D	0.65874	0.939	D	0.90698	0.4618	9	.	.	.	.	11.7629	0.51914	0.0894:0.0:0.9106:0.0	.	322	P28222	5HT1B_HUMAN	D	322	ENSP00000358963:A322D	.	A	-	2	0	HTR1B	78228875	1.000000	0.71417	0.931000	0.37212	0.439000	0.31926	6.377000	0.73145	1.394000	0.46624	0.561000	0.74099	GCC		0.507	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		103	119	103	119
TPBG	7162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	83075656	83075656	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	ENST00000369750.3	+	2	1595	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_ENST00000543496.1_Silent_p.P326P|TPBG_ENST00000535040.1_Silent_p.P326P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	326	LRRCT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542																																																0													117.0	107.0	110.0					6																	83075656		2203	4300	6503	SO:0001819	synonymous_variant	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.978G>A	6.37:g.83075656G>A			A8K555	Silent	SNP	ENST00000369750.3	37	CCDS4995.1																																																																																				0.542	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			47	105	47	105
TRPV5	56302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	ENST00000265310.1	-	5	928	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	194					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612																																																0													81.0	69.0	73.0					7																	142626123		2203	4300	6503	SO:0001583	missense	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.580T>C	7.37:g.142626123A>G	ENSP00000265310:p.Ser194Pro		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250687	0.80135	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.65178	-0.14;-0.14;-0.14	4.0	2.81	0.32909	Ankyrin repeat-containing domain (4);	0.317821	0.35378	N	0.003247	T	0.68220	0.2977	L	0.45698	1.435	0.53005	D	0.999963	D;D	0.54397	0.966;0.965	D;P	0.63381	0.914;0.716	T	0.68405	-0.5417	10	0.72032	D	0.01	-23.1481	9.9777	0.41795	0.8291:0.1709:0.0:0.0	.	194;194	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	P	194;188;194	ENSP00000265310:S194P;ENSP00000406361:S188P;ENSP00000406572:S194P	ENSP00000265310:S194P	S	-	1	0	TRPV5	142336245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.265000	0.43311	0.684000	0.31448	0.379000	0.24179	TCC		0.612	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		9	42	9	42
STARD8	9754	hgsc.bcm.edu;ucsc.edu	37	X	67937299	67937299	+	Silent	SNP	G	G	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:67937299G>T	ENST00000252336.6	+	5	675	c.303G>T	c.(301-303)tcG>tcT	p.S101S	STARD8_ENST00000374597.3_Silent_p.S101S|STARD8_ENST00000374599.3_Silent_p.S181S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	101					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCCCAGCTCGAGTGACCGGC	0.642																																																0													48.0	42.0	44.0					X																	67937299		2203	4300	6503	SO:0001819	synonymous_variant	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.303G>T	X.37:g.67937299G>T			A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	CCDS14390.1																																																																																				0.642	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		4	26	4	26
GPR149	344758	broad.mit.edu;ucsc.edu	37	3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	ENST00000389740.2	-	2	1256	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	386					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488																																																0													68.0	70.0	69.0					3																	154145322		1998	4178	6176	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1157C>T	3.37:g.154145322G>A	ENSP00000374390:p.Ala386Val			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260903	0.59431	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.91	5.91	0.95273	.	0.641076	0.17169	N	0.184345	T	0.38026	0.1025	L	0.50333	1.59	0.09310	N	0.999993	P	0.42161	0.772	B	0.27262	0.078	T	0.47548	-0.9109	9	0.72032	D	0.01	-2.6203	20.2985	0.98592	0.0:0.0:1.0:0.0	.	386	Q86SP6	GP149_HUMAN	V	386	.	ENSP00000374390:A386V	A	-	2	0	GPR149	155628016	0.852000	0.29690	0.010000	0.14722	0.040000	0.13550	4.991000	0.63883	2.793000	0.96121	0.655000	0.94253	GCG		0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		35	5	35	5
CDH17	1015	broad.mit.edu;ucsc.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	rs199497492		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000450165.2_Missense_Mutation_p.R774W|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448																																																1	Substitution - Missense(1)	large_intestine(1)											78.0	73.0	75.0					8																	95142932		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2320C>T	8.37:g.95142932G>A	ENSP00000027335:p.Arg774Trp		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417426	0.25552	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58358	0.34;0.34	5.84	2.83	0.33086	Cadherin (1);	0.561125	0.16175	N	0.226091	T	0.46014	0.1371	L	0.56769	1.78	0.27273	N	0.95831	D	0.63046	0.992	B	0.40534	0.332	T	0.37549	-0.9701	10	0.37606	T	0.19	-0.1227	11.2752	0.49163	0.0:0.0:0.5163:0.4836	.	774	Q12864	CAD17_HUMAN	W	774	ENSP00000027335:R774W;ENSP00000401468:R774W	ENSP00000027335:R774W	R	-	1	2	CDH17	95212108	0.965000	0.33210	0.969000	0.41365	0.045000	0.14185	1.376000	0.34306	0.760000	0.33108	-0.282000	0.10007	CGG		0.448	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		27	116	27	116
ADAM23	8745	broad.mit.edu;ucsc.edu	37	2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	ENST00000264377.3	+	2	742	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	138					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398																																					Melanoma(194;1127 2130 19620 24042 27855)											0													101.0	101.0	101.0					2																	207310230		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.414C>G	2.37:g.207310230C>G	ENSP00000264377:p.His138Gln		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	5.725	0.318257	0.10845	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.05717	3.4;3.4;3.4	5.95	5.07	0.68467	Peptidase M12B, propeptide (1);	0.000000	0.49305	D	0.000141	T	0.03871	0.0109	N	0.14661	0.345	0.38509	D	0.948413	B	0.15473	0.013	B	0.17098	0.017	T	0.45220	-0.9276	10	0.11182	T	0.66	.	10.7437	0.46168	0.0:0.8595:0.0:0.1405	.	138	O75077	ADA23_HUMAN	Q	138;138;32;138	ENSP00000264377:H138Q;ENSP00000363537:H138Q;ENSP00000363536:H138Q	ENSP00000264377:H138Q	H	+	3	2	ADAM23	207018475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.111000	0.50360	2.824000	0.97209	0.655000	0.94253	CAC		0.398	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		40	95	40	95
TRIM68	55128	broad.mit.edu;ucsc.edu	37	11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	ENST00000300747.5	-	2	408	c.119T>C	c.(118-120)cTc>cCc	p.L40P		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	40					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572																																																0													74.0	72.0	73.0					11																	4626616		2201	4298	6499	SO:0001583	missense	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.119T>C	11.37:g.4626616A>G	ENSP00000300747:p.Leu40Pro		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023984	0.54683	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.10288	2.89;2.89	4.7	4.7	0.59300	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.181657	0.26967	N	0.021593	T	0.36853	0.0982	M	0.86420	2.815	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.986	T	0.35500	-0.9786	10	0.87932	D	0	.	12.7371	0.57232	1.0:0.0:0.0:0.0	.	40;40	E9PR29;Q6AZZ1	.;TRI68_HUMAN	P	40	ENSP00000300747:L40P;ENSP00000436112:L40P	ENSP00000300747:L40P	L	-	2	0	TRIM68	4583192	1.000000	0.71417	0.781000	0.31783	0.357000	0.29423	7.962000	0.87912	2.052000	0.61016	0.448000	0.29417	CTC		0.572	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		42	23	42	23
NUMA1	4926	broad.mit.edu;ucsc.edu	37	11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	ENST00000393695.3	-	19	5301	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R|NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													53.0	50.0	51.0					11																	71720101		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4970A>G	11.37:g.71720101T>C	ENSP00000377298:p.His1657Arg			Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.664|7.664	0.685458|0.685458	0.14973|0.14973	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.40476|.	2.38;1.03;2.93|.	5.56|5.56	2.55|2.55	0.30701|0.30701	.|.	0.466534|.	0.18547|.	N|.	0.138013|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B;B|.	0.11235|.	0.0;0.0;0.0;0.0;0.004|.	B;B;B;B;B|.	0.08055|.	0.0;0.0;0.0;0.0;0.003|.	T|T	0.26121|0.26121	-1.0112|-1.0112	10|5	0.14252|.	T|.	0.57|.	.|.	6.301|6.301	0.21113|0.21113	0.0:0.4573:0.0:0.5427|0.0:0.4573:0.0:0.5427	.|.	1663;1127;1643;1657;521|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	R|V	521;1643;1657;1206;612|488	ENSP00000260051:H521R;ENSP00000351851:H1643R;ENSP00000377298:H1657R|.	ENSP00000260051:H521R|.	H|M	-|-	2|1	0|0	NUMA1|NUMA1	71397749|71397749	0.019000|0.019000	0.18553|0.18553	0.853000|0.853000	0.33588|0.33588	0.951000|0.951000	0.60555|0.60555	0.140000|0.140000	0.16056|0.16056	0.623000|0.623000	0.30267|0.30267	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			27	45	27	45
CHD5	26038	broad.mit.edu;hgsc.bcm.edu	37	1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	ENST00000262450.3	-	15	2511_2512	c.2412_2413insT	c.(2410-2415)agtgggfs	p.G805fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599																																																0																																										SO:0001589	frameshift_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2413dupT	1.37:g.6202212_6202212dupA	ENSP00000262450:p.Gly805fs		A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	ENST00000262450.3	37	CCDS57.1																																																																																				0.599	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		115	202	115	202
