#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
BTAF1	9044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	ENST00000265990.6	+	20	3011	c.2703A>G	c.(2701-2703)atA>atG	p.I901M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	901					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388																																																0													77.0	81.0	80.0					10																	93749186		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2703A>G	10.37:g.93749186A>G	ENSP00000265990:p.Ile901Met		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442031	0.63067	.	.	ENSG00000095564	ENST00000265990	T	0.69175	-0.38	5.25	2.85	0.33270	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.193081	0.52532	N	0.000077	T	0.68174	0.2972	L	0.53249	1.67	0.80722	D	1	P;P	0.44776	0.843;0.843	P;P	0.52386	0.697;0.697	T	0.65961	-0.6041	10	0.72032	D	0.01	-15.3982	7.0355	0.24991	0.7954:0.0:0.0725:0.1321	.	901;901	Q2M1V9;O14981	.;BTAF1_HUMAN	M	901	ENSP00000265990:I901M	ENSP00000265990:I901M	I	+	3	3	BTAF1	93739166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.929000	0.28844	0.297000	0.22615	0.482000	0.46254	ATA		0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		30	47	30	47
DCHS1	8642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	ENST00000299441.3	-	6	3046	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	879	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACGCACCCGAGCTACAGCG	0.597																																																0								G	TRP/ARG	0,4402		0,0,2201	127.0	110.0	116.0		2635	4.7	1.0	11	dbSNP_134	116	1,8591	1.2+/-3.3	0,1,4295	no	missense	DCHS1	NM_003737.2	101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	879/3299	6654108	1,12993	2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2635C>T	11.37:g.6654108G>A	ENSP00000299441:p.Arg879Trp		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330573	0.60743	0.0	1.16E-4	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000494	T	0.61160	0.2325	L	0.41079	1.255	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.62964	-0.6742	10	0.59425	D	0.04	.	17.1878	0.86871	0.0:0.0:1.0:0.0	.	879	Q96JQ0	PCD16_HUMAN	W	879	ENSP00000299441:R879W	ENSP00000299441:R879W	R	-	1	2	DCHS1	6610684	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	5.483000	0.66838	2.607000	0.88179	0.462000	0.41574	CGG		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	41	7	41
IGSF22	283284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	18739488	18739488	+	Silent	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	ENST00000513874.1	-	9	1102	c.963C>T	c.(961-963)ctC>ctT	p.L321L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	321	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGCACTGTGAGCTCTGCAC	0.542																																																0													130.0	132.0	131.0					11																	18739488		2119	4233	6352	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.963C>T	11.37:g.18739488G>A			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		16	84	16	84
STRAP	11171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	16050900	16050900	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	ENST00000419869.2	+	7	1036	c.723C>T	c.(721-723)ggC>ggT	p.G241G	STRAP_ENST00000538352.1_Silent_p.G147G|STRAP_ENST00000025399.6_Silent_p.G254G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	241					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343																																																0													58.0	67.0	64.0					12																	16050900		2203	4298	6501	SO:0001819	synonymous_variant	11171			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.723C>T	12.37:g.16050900C>T			B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	ENST00000419869.2	37	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	T	9.219	1.032865	0.19590	.	.	ENSG00000023734	ENST00000538718	.	.	.	4.64	3.48	0.39840	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46442	-0.9191	4	.	.	.	-24.543	6.734	0.23399	0.0:0.0785:0.1521:0.7694	.	.	.	.	W	8	.	.	R	+	1	2	STRAP	15942167	0.979000	0.34478	1.000000	0.80357	0.986000	0.74619	0.038000	0.13862	0.372000	0.24591	-0.269000	0.10298	CGG		0.343	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		19	42	19	42
CTCF	10664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	ENST00000264010.4	+	10	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_ENST00000401394.1_Missense_Mutation_p.S276C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	604					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGATGCGCTCTAAGAAAGAA	0.448																																					Colon(175;1200 1966 6945 23069 27405)											0													175.0	160.0	165.0					16																	67663410		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1811C>G	16.37:g.67663410C>G	ENSP00000264010:p.Ser604Cys		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325131	0.60634	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09630	2.96;3.02	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	T	0.19846	0.0477	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.62365	0.991;0.983	P;P	0.58454	0.839;0.615	T	0.00688	-1.1609	10	0.56958	D	0.05	-3.0856	19.0839	0.93194	0.0:1.0:0.0:0.0	.	276;604	B5MC38;P49711	.;CTCF_HUMAN	C	604;276	ENSP00000264010:S604C;ENSP00000384707:S276C	ENSP00000264010:S604C	S	+	2	0	CTCF	66220911	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	2.844000	0.48246	2.625000	0.88918	0.313000	0.20887	TCT		0.448	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		8	59	8	59
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	7	24	7
KRI1	65095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	ENST00000312962.6	-	11	996	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.S322F	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	320	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGGCGCACGGAGGACGCGAT	0.622																																																0													87.0	85.0	86.0					19																	10670353		2203	4300	6503	SO:0001583	missense	65095				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.977C>T	19.37:g.10670353G>A	ENSP00000320917:p.Ser326Phe		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679151	0.68042	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.14022	2.72;2.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	M	0.90595	3.13	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56757	-0.7926	10	0.66056	D	0.02	-29.3114	17.6015	0.88026	0.0:0.0:1.0:0.0	.	326;322	Q8N9T8;D3YTE0	KRI1_HUMAN;.	F	326;322;326	ENSP00000320917:S326F;ENSP00000355366:S322F	ENSP00000320917:S326F	S	-	2	0	KRI1	10531353	1.000000	0.71417	0.986000	0.45419	0.153000	0.21895	8.523000	0.90576	2.458000	0.83093	0.591000	0.81541	TCC		0.622	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		14	52	14	52
NLRP8	126205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512																																																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	107.0	111.0		272	-1.3	0.0	19	dbSNP_134	111	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1049	56459540	1,13005	2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.272G>A	19.37:g.56459540G>A	ENSP00000291971:p.Arg91His		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781099	0.16120	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.44083	0.93	2.23	-1.29	0.09288	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.11879	0.0289	N	0.03209	-0.39	0.09310	N	1	P;B	0.45634	0.863;0.064	B;B	0.36922	0.236;0.0	T	0.12372	-1.0550	9	0.06365	T	0.9	.	2.9194	0.05764	0.4182:0.2521:0.3298:0.0	.	91;91	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	91	ENSP00000291971:R91H	ENSP00000291971:R91H	R	+	2	0	NLRP8	61151352	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.790000	0.01759	-0.408000	0.07565	-0.492000	0.04666	CGT		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		14	29	14	29
PLEKHO1	51177	hgsc.bcm.edu;broad.mit.edu	37	1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	ENST00000369124.4	+	6	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617																																																0													78.0	78.0	78.0					1																	150131105		2203	4300	6503	SO:0001583	missense	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.617G>A	1.37:g.150131105G>A	ENSP00000358120:p.Ser206Asn		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586027	0.28268	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T;T	0.53206	0.63;2.19;2.19	4.97	4.06	0.47325	.	0.339398	0.38778	N	0.001576	T	0.27027	0.0662	L	0.57536	1.79	0.41784	D	0.989831	B	0.10296	0.003	B	0.09377	0.004	T	0.12116	-1.0560	10	0.30854	T	0.27	-14.0785	12.4557	0.55702	0.0806:0.0:0.9194:0.0	.	206	Q53GL0	PKHO1_HUMAN	N	23;172;206;86	ENSP00000025469:S172N;ENSP00000358120:S206N;ENSP00000409060:S86N	ENSP00000025469:S172N	S	+	2	0	PLEKHO1	148397729	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.355000	0.44107	1.310000	0.45006	0.655000	0.94253	AGC		0.617	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		7	95	7	95
SCTR	6344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	ENST00000019103.5	-	13	1516	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	417					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGAAGGAGGCCACGGGGTGC	0.637																																																0													76.0	63.0	67.0					2																	120197767		2203	4300	6503	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1249G>A	2.37:g.120197767C>T	ENSP00000019103:p.Ala417Thr		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.954276	0.00470	.	.	ENSG00000080293	ENST00000019103	T	0.35605	1.3	4.98	0.895	0.19247	.	0.814128	0.10587	N	0.657236	T	0.21145	0.0509	N	0.16743	0.435	0.09310	N	1	B	0.25563	0.129	B	0.26614	0.071	T	0.24190	-1.0167	10	0.39692	T	0.17	.	6.5904	0.22644	0.0:0.5643:0.2747:0.161	.	417	P47872	SCTR_HUMAN	T	417	ENSP00000019103:A417T	ENSP00000019103:A417T	A	-	1	0	SCTR	119914237	0.001000	0.12720	0.416000	0.26546	0.001000	0.01503	0.150000	0.16263	0.285000	0.22329	-0.781000	0.03364	GCC		0.637	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			12	29	12	29
PLEKHM3	389072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	ENST00000427836.2	-	2	829	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	114					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453																																																0													111.0	111.0	111.0					2																	208866024		2003	4174	6177	SO:0001583	missense	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.340G>A	2.37:g.208866024C>T	ENSP00000417003:p.Ala114Thr		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.894980	0.17613	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.84516	-1.81;-1.83;-1.86	5.56	2.5	0.30297	.	0.216731	0.37483	N	0.002066	T	0.66509	0.2796	N	0.11560	0.145	0.25824	N	0.984251	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.50110	-0.8866	10	0.13108	T	0.6	.	8.309	0.32060	0.0:0.5948:0.0:0.4052	.	114;114	C9J119;Q6ZWE6	.;PKHM3_HUMAN	T	114	ENSP00000417003:A114T;ENSP00000373899:A114T;ENSP00000400150:A114T	ENSP00000373899:A114T	A	-	1	0	PLEKHM3	208574269	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	0.939000	0.28978	0.708000	0.31955	0.644000	0.83932	GCA		0.453	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		18	94	18	94
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			14	35	14	35
LHFPL4	375323	hgsc.bcm.edu;broad.mit.edu	37	3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	ENST00000287585.6	-	2	388	c.103A>G	c.(103-105)Atc>Gtc	p.I35V	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	49						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632																																																0													69.0	77.0	74.0					3																	9594261		2203	4300	6503	SO:0001583	missense	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.103A>G	3.37:g.9594261T>C	ENSP00000287585:p.Ile35Val		A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520754	0.64747	.	.	ENSG00000156959	ENST00000287585	T	0.71579	-0.58	3.78	2.54	0.30619	.	0.000000	0.64402	D	0.000001	T	0.59059	0.2166	L	0.41824	1.3	0.44366	D	0.997269	B	0.29531	0.247	B	0.33960	0.173	T	0.47182	-0.9137	10	0.18276	T	0.48	-20.8358	10.0937	0.42462	0.0:0.0:0.1693:0.8307	.	35	Q7Z7J7	LHPL4_HUMAN	V	35	ENSP00000287585:I35V	ENSP00000287585:I35V	I	-	1	0	LHFPL4	9569261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	0.562000	0.29204	0.254000	0.18369	ATC		0.632	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		5	74	5	74
ADPRH	141	hgsc.bcm.edu;broad.mit.edu	37	3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	ENST00000478399.1	+	3	1794	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E|ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	130					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612																																					GBM(133;579 1804 5989 9967 40052)											0													91.0	92.0	92.0					3																	119305222		2203	4300	6503	SO:0001583	missense	141			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.389G>A	3.37:g.119305222G>A	ENSP00000420200:p.Gly130Glu		B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863246	0.91511	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87017	0.2126	10	0.87932	D	0	-18.5769	16.8112	0.85720	0.0:0.0:1.0:0.0	.	130	P54922	ADPRH_HUMAN	E	130	ENSP00000420200:G130E;ENSP00000417528:G130E;ENSP00000349496:G130E;ENSP00000417430:G130E	ENSP00000349496:G130E	G	+	2	0	ADPRH	120787912	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	8.794000	0.91867	2.837000	0.97791	0.655000	0.94253	GGG		0.612	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		9	159	9	159
TFRC	7037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	ENST00000360110.4	-	2	196	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_ENST00000420415.1_5'UTR|TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAAGTTAGAGAATGCTGATC	0.343			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0													110.0	108.0	109.0					3																	195803944		2203	4299	6502	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.27C>G	3.37:g.195803944G>C	ENSP00000353224:p.Phe9Leu		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531251	0.27387	.	.	ENSG00000072274	ENST00000360110;ENST00000540528;ENST00000392396	T;T	0.32753	1.44;1.44	5.82	0.685	0.18009	.	0.325142	0.30695	N	0.009071	T	0.14700	0.0355	N	0.21448	0.665	0.21984	N	0.999438	B	0.09022	0.002	B	0.08055	0.003	T	0.15983	-1.0418	10	0.24483	T	0.36	-1.6623	3.1419	0.06458	0.157:0.3837:0.328:0.1312	.	9	P02786	TFR1_HUMAN	L	9;8;9	ENSP00000353224:F9L;ENSP00000376197:F9L	ENSP00000353224:F9L	F	-	3	2	TFRC	197288341	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	0.881000	0.28173	-0.152000	0.11156	-0.951000	0.02657	TTC		0.343	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			16	44	16	44
HARS	3035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	ENST00000504156.1	-	1	751	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_ENST00000307633.3_Missense_Mutation_p.V11E|HARS_ENST00000457527.2_Missense_Mutation_p.V11E|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS2_ENST00000508522.1_5'Flank|HARS2_ENST00000448069.2_5'Flank|HARS2_ENST00000432671.2_5'Flank|HARS_ENST00000415192.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS2_ENST00000230771.3_5'Flank|HARS2_ENST00000437649.2_5'Flank|HARS2_ENST00000435019.2_5'Flank	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	11	WHEP-TRS.				gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652																																																0													37.0	32.0	33.0					5																	140070858		2203	4300	6503	SO:0001583	missense	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.32T>A	5.37:g.140070858A>T	ENSP00000425634:p.Val11Glu		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.629221	0.87560	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.65	5.65	0.86999	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.267324	0.37348	N	0.002131	T	0.55862	0.1947	L	0.41492	1.28	0.80722	D	1	D;D;D;D;P;B;P;D	0.76494	0.999;0.986;0.986;0.989;0.918;0.005;0.918;0.986	D;P;P;P;P;B;P;P	0.75020	0.985;0.796;0.796;0.773;0.609;0.005;0.609;0.796	T	0.47661	-0.9100	10	0.12430	T	0.62	-4.0285	13.8738	0.63638	1.0:0.0:0.0:0.0	.	11;11;11;11;11;11;11;11	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	E	11	ENSP00000425634:V11E;ENSP00000387893:V11E;ENSP00000393244:V11E;ENSP00000304668:V11E;ENSP00000411511:V11E;ENSP00000411085:V11E;ENSP00000425889:V11E	ENSP00000304668:V11E	V	-	2	0	HARS	140051042	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	3.984000	0.56923	2.371000	0.80710	0.533000	0.62120	GTG		0.652	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		12	35	12	35
PRSS35	167681	hgsc.bcm.edu;broad.mit.edu	37	6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	ENST00000369700.3	+	2	271	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R32*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	32						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTGGCACTTGAGAAAGGTACC	0.448																																																0													132.0	131.0	131.0					6																	84233254		2203	4300	6503	SO:0001587	stop_gained	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.94A>T	6.37:g.84233254A>T	ENSP00000358714:p.Arg32*		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857223	0.51376	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.33	1.23	0.21249	.	0.409703	0.27720	N	0.018129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-13.169	7.9903	0.30237	0.701:0.2292:0.0698:0.0	.	.	.	.	X	32	.	ENSP00000358714:R32X	R	+	1	2	PRSS35	84289973	1.000000	0.71417	0.206000	0.23566	0.163000	0.22366	2.917000	0.48821	0.867000	0.35654	0.459000	0.35465	AGA		0.448	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		10	113	10	113
FBXO30	84085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	146126348	146126348	+	Silent	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	ENST00000237281.4	-	2	1360	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	398	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388																																																0													164.0	168.0	167.0					6																	146126348		2203	4300	6503	SO:0001819	synonymous_variant	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1194T>C	6.37:g.146126348A>G			Q9BXZ7	Silent	SNP	ENST00000237281.4	37	CCDS5208.1																																																																																				0.388	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			51	91	51	91
TRHR	7201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	110100140	110100140	+	Silent	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	ENST00000518632.1	+	2	750	c.399C>G	c.(397-399)gcC>gcG	p.A133A	TRHR_ENST00000311762.2_Silent_p.A133A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413																																																0													132.0	111.0	118.0					8																	110100140		2203	4300	6503	SO:0001819	synonymous_variant	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.399C>G	8.37:g.110100140C>G			Q2M339	Silent	SNP	ENST00000518632.1	37	CCDS6311.1																																																																																				0.413	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			22	34	22	34
RORB	6096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	77277523	77277523	+	Splice_Site	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	ENST00000396204.2	+	6	925		c.e6+1		RORB_ENST00000376896.3_Splice_Site			Q92753	RORB_HUMAN	RAR-related orphan receptor B						amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CTGAAGTCAGGTAAGCAAGAA	0.458																																																0													139.0	133.0	135.0					9																	77277523		2203	4300	6503	SO:0001630	splice_region_variant	6096			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.925+1G>T	9.37:g.77277523G>T			Q8WX73	Splice_Site	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.358783	0.82243	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3573	0.94420	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RORB	76467343	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.571000	0.86741	0.563000	0.77884	.		0.458	RORB-201	KNOWN	basic	protein_coding	protein_coding			Intron	15	80	15	80
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	31747794	31747794	+	Silent	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	ENST00000357033.4	-	52	7820	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000343523.2_Silent_p.K78K|DMD_ENST00000378707.3_Silent_p.K78K|DMD_ENST00000541735.1_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000474231.1_Silent_p.K78K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2538					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCTTGTTTTTCAAATTTT	0.413																																																0													251.0	211.0	225.0					X																	31747794		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7614A>G	X.37:g.31747794T>C			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324328	0.24080	.	.	ENSG00000198947	ENST00000465285	T	0.34859	1.34	5.23	4.03	0.46877	.	0.000000	0.37136	U	0.002225	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09684	-1.0663	6	.	.	.	.	8.0752	0.30712	0.0:0.1622:0.0:0.8378	.	.	.	.	E	267	ENSP00000420046:K267E	.	K	-	1	0	DMD	31657715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.620000	0.36976	0.695000	0.31675	0.412000	0.27726	AAA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		48	91	48	91
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	ENST00000373344.5	-	9	3881	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E1223Q(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTTTCTGTTCATCGCTGCTT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	lung(2)|bone(1)											135.0	118.0	124.0					X																	76937081		2203	4296	6499	SO:0001587	stop_gained	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3667G>T	X.37:g.76937081C>A	ENSP00000362441:p.Glu1223*		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	46	12.217587	0.99647	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.357193	0.27064	N	0.021115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-17.2197	11.3762	0.49730	0.0:0.9153:0.0:0.0847	.	.	.	.	X	1223;1185;1150	.	ENSP00000362441:E1223X	E	-	1	0	ATRX	76823737	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.599000	0.61076	2.397000	0.81536	0.513000	0.50165	GAA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	60	18	60
NUCB1	4924	broad.mit.edu;ucsc.edu	37	19	49422370	49422370	+	Silent	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	ENST00000405315.4	+	9	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_ENST00000407032.1_Silent_p.V300V|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.V300V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	300	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.			HV -> QL (in Ref. 1; AAA36383). {ECO:0000305}.		endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622																																																0													44.0	48.0	46.0					19																	49422370		2203	4300	6503	SO:0001819	synonymous_variant	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.900G>T	19.37:g.49422370G>T			B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560249	0.27827	.	.	ENSG00000104805	ENST00000424608	.	.	.	5.01	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.989	0.36012	0.0:0.2936:0.5561:0.1503	.	.	.	.	L	270	.	.	X	+	2	2	NUCB1	54114182	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.401000	0.20948	1.228000	0.43614	0.591000	0.81541	TGA		0.622	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		4	42	4	42
PRSS3P2	154754	broad.mit.edu;ucsc.edu	37	7	142480060	142480060	+	RNA	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:142480060C>T	ENST00000603901.1	+	0	192					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAGGTCACTGCTACAAGCCGT	0.567																																																0													33.0	28.0	30.0					7																	142480060		692	1591	2283			154754					7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480060C>T				RNA	SNP	ENST00000603901.1	37																																																																																					0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		23	104	23	104
TERT	7015	broad.mit.edu;ucsc.edu	37	5	1264587	1264587	+	Silent	SNP	G	G	A	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	ENST00000310581.5	-	11	2832	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	925	Required for oligomerization.|Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGAATAGGCCGTGGGCCGGCA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.0															0								G	,	1,4099		0,1,2049	42.0	51.0	48.0		,2775	1.7	0.9	5	dbSNP_126	48	10,8376		0,10,4183	yes	intron,coding-synonymous	TERT	NM_001193376.1,NM_198253.2	,	0,11,6232	AA,AG,GG		0.1192,0.0244,0.0881	,	,925/1133	1264587	11,12475	2050	4193	6243	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2775C>T	5.37:g.1264587G>A			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	CCDS3861.2																																																																																				0.627	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			20	44	20	44
SKIV2L2	23517	broad.mit.edu;ucsc.edu	37	5	54720585	54720585	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	ENST00000230640.5	+	27	3368	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_ENST00000545714.1_Silent_p.A937A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1038					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTTTGCTGCCAGCCTCTACT	0.378																																					Melanoma(2;92 134 23744 29976 33782)											0													105.0	103.0	103.0					5																	54720585		2203	4300	6503	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.3114C>T	5.37:g.54720585C>T			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.378	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			4	41	4	41
