#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TBC1D15	64786	broad.mit.edu	37	12	72315226	72315226	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:72315226A>T	ENST00000550746.1	+	17	1910	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	616					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGATGGTAAAATGCAAGGT	0.313																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1846-1848)Aaa>Taa		TBC1 domain family, member 15							108.0	114.0	112.0					12																	72315226		2203	4300	6503	SO:0001587	stop_gained	64786						protein binding|Rab GTPase activator activity	g.chr12:72315226A>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1846A>T	12.37:g.72315226A>T	ENSP00000448182:p.Lys616*					TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607*	p.K616*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			17	1910	+			616					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Nonsense_Mutation	SNP	ENST00000550746.1	37	c.1846A>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	37	6.584555	0.97684	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.29	2.84	0.33178	.	0.309960	0.39407	N	0.001367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.064	8.4784	0.33027	0.7321:0.141:0.0:0.1269	.	.	.	.	X	616;607;599;370	.	ENSP00000318262:K607X	K	+	1	0	TBC1D15	70601493	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.705000	0.61838	0.374000	0.24650	0.482000	0.46254	AAA		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		25	124	0	0	0	0.717897	0	25	124				
GRHL3	57822	broad.mit.edu	37	1	24663012	24663012	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:24663012C>A	ENST00000350501.5	+	4	434	c.307C>A	c.(307-309)Ctt>Att	p.L103I	GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000361548.4_Missense_Mutation_p.L103I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	103					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCACTCCCCTTGAAAGCCC	0.507																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(307-309)Ctt>Att		grainyhead-like 3 (Drosophila)							84.0	94.0	90.0					1																	24663012		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663012C>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.307C>A	1.37:g.24663012C>A	ENSP00000288955:p.Leu103Ile					GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000350501.5_Missense_Mutation_p.L103I|GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000530984.1_3'UTR	p.L103I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	537	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	103					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.307C>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819381	0.32145	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000524724;ENST00000236255	T;T;T;T;T;T	0.46063	2.89;2.55;2.87;2.92;0.88;2.89	5.59	4.67	0.58626	.	0.487974	0.20654	N	0.088147	T	0.32164	0.0820	L	0.48642	1.525	0.27504	N	0.951891	B;B;B	0.31548	0.1;0.328;0.328	B;B;B	0.30495	0.054;0.116;0.116	T	0.12426	-1.0548	10	0.22706	T	0.39	-2.5444	8.1884	0.31352	0.0:0.7754:0.0:0.2246	.	57;108;103	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	103;10;103;57;57;108	ENSP00000354943:L103I;ENSP00000340543:L10I;ENSP00000288955:L103I;ENSP00000348333:L57I;ENSP00000431290:L57I;ENSP00000236255:L108I	ENSP00000236255:L108I	L	+	1	0	GRHL3	24535599	0.913000	0.31002	1.000000	0.80357	0.304000	0.27724	1.655000	0.37345	2.627000	0.88993	0.655000	0.94253	CTT		0.507	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		8	130	1	0	0.00307968	0.278610	0.00349964	8	130				
HKR1	284459	broad.mit.edu	37	19	37854228	37854228	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:37854228A>T	ENST00000324411.4	+	6	1800	c.1531A>T	c.(1531-1533)Acc>Tcc	p.T511S	HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000591471.1_Missense_Mutation_p.T238S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	511					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGAAATCAACCCTGAGCAC	0.507																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(712-714)Acc>Tcc		HKR1, GLI-Kruppel zinc finger family member							80.0	76.0	77.0					19																	37854228		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854228A>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1531A>T	19.37:g.37854228A>T	ENSP00000315505:p.Thr511Ser					HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S|HKR1_ENST00000324411.4_Missense_Mutation_p.T511S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S	p.T238S			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2353	+			511					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.712A>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421258	0.25639	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.13901	3.96;2.55;2.55;2.55	2.58	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.02751	-0.505	0.09310	N	0.999999	B;B;B;B	0.29805	0.024;0.257;0.063;0.009	B;B;B;B	0.28385	0.089;0.032;0.089;0.008	T	0.39563	-0.9608	9	0.02654	T	1	.	7.2023	0.25887	0.7999:0.0:0.0:0.2001	.	450;492;511;493	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	S	238;290;492;547;511;450	ENSP00000437774:T238S;ENSP00000375994:T492S;ENSP00000315505:T511S;ENSP00000438261:T450S	ENSP00000315505:T511S	T	+	1	0	HKR1	42546068	0.000000	0.05858	0.939000	0.37840	0.808000	0.45660	-1.864000	0.01650	0.365000	0.24400	0.529000	0.55759	ACC		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		5	67	0	0	0	0.248553	0	5	67				
NOTCH4	4855	broad.mit.edu	37	6	32178697	32178697	+	Silent	SNP	G	G	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:32178697G>T	ENST00000375023.3	-	18	2835	c.2697C>A	c.(2695-2697)tcC>tcA	p.S899S	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	899	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGGCAAAGGGAAGAGACGT	0.582																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2695-2697)tcC>tcA		notch 4							40.0	42.0	42.0					6																	32178697		1509	2707	4216	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32178697G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2697C>A	6.37:g.32178697G>T							p.S899S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			18	2835	-			899			EGF-like 23.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.2697C>A	CCDS34420.1																																																																																				0.582	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	41	1	0	0.115264	0.115264	0.128071	3	41				
RTN4R	65078	broad.mit.edu	37	22	20229582	20229582	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:20229582C>T	ENST00000043402.7	-	2	1512	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	358					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCTTCAGCGCATTGCCTG	0.662																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(1072-1074)gcG>gcA		reticulon 4 receptor							30.0	31.0	31.0					22																	20229582		2200	4291	6491	SO:0001819	synonymous_variant	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229582C>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1074G>A	22.37:g.20229582C>T							p.A358A	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	1512	-	Colorectal(54;0.0993)		358					D3DX28	Silent	SNP	ENST00000043402.7	37	c.1074G>A	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	C	1.500	-0.552378	0.03996	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	3.72	-7.45	0.01374	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	.	2.1953	0.03909	0.1272:0.4101:0.2801:0.1826	.	.	.	.	H	378;444	.	.	R	-	2	0	RTN4R	18609582	0.000000	0.05858	0.206000	0.23566	0.219000	0.24729	-3.344000	0.00504	-1.744000	0.01338	0.313000	0.20887	CGC		0.662	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			12	50	0	0	0	0.520397	0	12	50				
LEF1	51176	broad.mit.edu	37	4	109000758	109000758	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:109000758A>G	ENST00000265165.1	-	7	1389	c.735T>C	c.(733-735)caT>caC	p.H245H	LEF1_ENST00000379951.2_Silent_p.H217H|LEF1_ENST00000503879.1_5'Flank|LEF1_ENST00000510624.1_Silent_p.H149H|LEF1_ENST00000438313.2_Silent_p.H217H	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	245	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGGGAATCATATGATGGGAAA	0.468																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(649-651)caT>caC		lymphoid enhancer-binding factor 1							188.0	165.0	173.0					4																	109000758		2203	4300	6503	SO:0001819	synonymous_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109000758A>G		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.735T>C	4.37:g.109000758A>G						LEF1_ENST00000438313.2_Silent_p.H217H|LEF1_ENST00000510624.1_Silent_p.H149H|LEF1_ENST00000265165.1_Silent_p.H245H	p.H217H	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	6	1839	-			245			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	c.651T>C	CCDS3679.1																																																																																				0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			28	67	0	0	0	0.769981	0	28	67				
EIF4G3	8672	broad.mit.edu	37	1	21155713	21155713	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:21155713T>C	ENST00000264211.8	-	25	4140	c.3946A>G	c.(3946-3948)Att>Gtt	p.I1316V	EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.I1322V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1316	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAACCAAATATGGGGAATA	0.378																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3964-3966)Att>Gtt		eukaryotic translation initiation factor 4 gamma, 3							89.0	92.0	91.0					1																	21155713		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21155713T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3946A>G	1.37:g.21155713T>C	ENSP00000264211:p.Ile1316Val					EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1316V	p.I1322V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	29	4547	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1316			MI.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3964A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010588	0.54361	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.78	5.78	0.91487	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.33485	1.01	0.80722	D	1	D;P;B;D;P	0.71674	0.998;0.565;0.389;0.993;0.56	D;P;B;D;P	0.80764	0.994;0.456;0.421;0.987;0.462	T	0.39440	-0.9614	10	0.13108	T	0.6	-13.8129	16.1095	0.81250	0.0:0.0:0.0:1.0	.	1511;1036;920;1322;1316	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	1316;1512;1316;1036;806;1322;920;82	ENSP00000264211:I1316V;ENSP00000383274:I1316V;ENSP00000364071:I1036V;ENSP00000442010:I806V;ENSP00000364073:I1322V;ENSP00000444693:I920V	ENSP00000264211:I1316V	I	-	1	0	EIF4G3	21028300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.635000	0.83286	2.210000	0.71456	0.482000	0.46254	ATT		0.378	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		38	101	0	0	0	0.812448	0	38	101				
CAPRIN2	65981	broad.mit.edu	37	12	30863150	30863150	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:30863150T>G	ENST00000298892.5	-	17	3670	c.2920A>C	c.(2920-2922)Aac>Cac	p.N974H	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N1024H|CAPRIN2_ENST00000395805.2_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTAAGTTGTTCAGAAGAAGA	0.443																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(3070-3072)Aac>Cac		caprin family member 2							99.0	100.0	100.0					12																	30863150		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30863150T>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2920A>C	12.37:g.30863150T>G	ENSP00000298892:p.Asn974His					CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N974H|CAPRIN2_ENST00000395805.2_3'UTR	p.N1024H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			18	3820	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		1024			C1q.			Missense_Mutation	SNP	ENST00000298892.5	37	c.3070A>C	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330601	0.81690	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.74737	-0.87;-0.87;-0.87	5.7	5.7	0.88788	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.128601	0.64402	D	0.000001	T	0.70587	0.3241	N	0.02539	-0.55	0.48830	D	0.999711	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.989	T	0.81230	-0.1027	10	0.87932	D	0	-13.3929	15.9561	0.79889	0.0:0.0:0.0:1.0	.	1024;974	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	H	974;1024;690	ENSP00000298892:N974H;ENSP00000251071:N1024H;ENSP00000309785:N690H	ENSP00000251071:N1024H	N	-	1	0	CAPRIN2	30754417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.835000	0.86780	2.166000	0.68216	0.533000	0.62120	AAC		0.443	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		36	108	0	0	0	0.788014	0	36	108				
TFR2	7036	broad.mit.edu	37	7	100229562	100229562	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:100229562G>A	ENST00000462107.1	-	9	1260	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000223051.3_Silent_p.L325L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	325					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCAGTTCCCAGGTGCACCTGC	0.577																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(973-975)Ctg>Ttg		transferrin receptor 2							106.0	95.0	99.0					7																	100229562		2203	4300	6503	SO:0001819	synonymous_variant	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100229562G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.973C>T	7.37:g.100229562G>A						TFR2_ENST00000223051.3_Silent_p.L325L|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000544242.1_5'UTR	p.L325L			Q9UP52	TFR2_HUMAN			9	1260	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		325					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	c.973C>T	CCDS34707.1																																																																																				0.577	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		3	104	0	0	0	0.115264	0	3	104				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	101	0	0	0	0.307466	0	7	101				
ACVR1B	91	broad.mit.edu	37	12	52370109	52370109	+	Splice_Site	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:52370109A>T	ENST00000257963.4	+	3	408		c.e3-1		ACVR1B_ENST00000415850.2_Splice_Site|ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CACTTGACTCAGGTCACCTCA	0.532																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.e3-1		activin A receptor, type IB	Adenosine triphosphate(DB00171)						67.0	71.0	70.0					12																	52370109		2203	4300	6503	SO:0001630	splice_region_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52370109A>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.332-1A>T	12.37:g.52370109A>T						ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site		NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	3	408	+								B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Splice_Site	SNP	ENST00000257963.4	37		CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559975	0.65538	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7696	0.78157	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACVR1B	50656376	0.367000	0.25023	0.998000	0.56505	0.753000	0.42808	0.922000	0.28734	2.198000	0.70561	0.379000	0.24179	.		0.532	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	Intron	4	92	0	0	0	0.150653	0	4	92				
NEO1	4756	broad.mit.edu	37	15	73581488	73581488	+	Splice_Site	SNP	G	G	A	rs150727403		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:73581488G>A	ENST00000339362.5	+	26	4098	c.3651G>A	c.(3649-3651)ggG>ggA	p.G1217G	NEO1_ENST00000560262.1_Splice_Site_p.G1217G|NEO1_ENST00000558964.1_Splice_Site_p.G1206G|NEO1_ENST00000261908.6_Splice_Site_p.G1217G			Q92859	NEO1_HUMAN	neogenin 1	1217					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACATCTAGGGCATGAGTCAG	0.488																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.e26-1		neogenin 1		G	,,	5,4391	9.9+/-24.2	0,5,2193	135.0	97.0	110.0		3651,3618,3651	-3.4	1.0	15	dbSNP_134	110	0,8594		0,0,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NEO1	NM_001172623.1,NM_001172624.1,NM_002499.3	,,	0,5,6490	AA,AG,GG		0.0,0.1137,0.0385	,,	1217/1409,1206/1451,1217/1462	73581488	5,12985	2198	4297	6495	SO:0001630	splice_region_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73581488G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3650-1G>A	15.37:g.73581488G>A						NEO1_ENST00000261908.6_Splice_Site_p.G1217_splice|NEO1_ENST00000558964.1_Splice_Site_p.G1206_splice|NEO1_ENST00000560262.1_Splice_Site_p.G1217_splice	p.G1217_splice			Q92859	NEO1_HUMAN			26	4098	+			1217					B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37	c.3649_splice	CCDS10247.1																																																																																				0.488	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Silent	10	29	0	0	0	0.411799	0	10	29				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	66	0	0	0	0.184627	0	3	66				
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C	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	234	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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(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	GRCh37	CM035576	TP53	M		c.(700-702)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	833	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	55	0	0	0	0.435327	0	13	55				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	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			30	67	0	0	0	0.740014	0	30	67				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	48	0	0	0	0.150653	0	4	48				
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(112-114)cTg>cCg		aquaporin 7							127.0	86.0	100.0					9																	33395107		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395107A>G	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.113T>C	9.37:g.33395107A>G	ENSP00000439534:p.Leu38Pro					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR	p.L38P			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	351	-			38		L -> V (in dbSNP:rs2381003).			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.113T>C		.	.	.	.	.	.	.	.	.	.	A	14.54	2.567065	0.45694	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.27	4.27	0.50696	Aquaporin-like (2);	0.000000	0.64402	D	0.000002	D	0.94499	0.8229	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.94950	0.8099	10	0.87932	D	0	-15.8903	9.9674	0.41732	1.0:0.0:0.0:0.0	.	37;38;38	Q5T5M0;B7Z4U2;O14520	.;.;AQP7_HUMAN	P	37;38;37;38	ENSP00000368821:L37P;ENSP00000297988:L38P;ENSP00000368820:L37P;ENSP00000439534:L38P	ENSP00000297988:L38P	L	-	2	0	AQP7	33385107	1.000000	0.71417	0.980000	0.43619	0.162000	0.22319	5.149000	0.64863	1.945000	0.56424	0.445000	0.29226	CTG		0.587	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		10	62	0	0	0	0.335167	0	10	62				
PIK3C2G	5288	broad.mit.edu	37	12	18573895	18573895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:18573895G>A	ENST00000266497.5	+	15	2251	c.2213G>A	c.(2212-2214)cGt>cAt	p.R738H	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R738H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGAAATTCGTAAAGTGGCA	0.363																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2212-2214)cGt>cAt		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							121.0	115.0	117.0					12																	18573895		1834	4086	5920	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18573895G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2213G>A	12.37:g.18573895G>A	ENSP00000266497:p.Arg738His					PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738H	p.R738H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			16	2329	+		Hepatocellular(102;0.194)	738					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2213G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862299	0.71949	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.71461	-0.57;-0.57;-0.57	4.11	4.11	0.48088	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.86548	0.5959	M	0.90977	3.165	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89426	0.3713	10	0.87932	D	0	-15.6901	14.6772	0.68989	0.0:0.0:1.0:0.0	.	778;779;738	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	738;738;779	ENSP00000404845:R738H;ENSP00000266497:R738H;ENSP00000445381:R779H	ENSP00000266497:R738H	R	+	2	0	PIK3C2G	18465162	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.860000	0.62961	2.570000	0.86706	0.557000	0.71058	CGT		0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	105	0	0	0	0.217242	0	5	105				
MMP12	4321	broad.mit.edu	37	11	102743820	102743820	+	RNA	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:102743820C>T	ENST00000532855.1	-	0	221							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TATCTCAAGGCCATAAAATTT	0.333																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						30.0	30.0	30.0					11																	102743820		1805	4068	5873			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743820C>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743820C>T										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	221	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.333	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		8	28	0	0	0	0.335167	0	8	28				
ZBTB12	221527	broad.mit.edu	37	6	31868387	31868387	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:31868387A>G	ENST00000375527.2	-	2	871	c.696T>C	c.(694-696)ggT>ggC	p.G232G	EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	232	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAATGCCCAGACCCCCTCCCA	0.662																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(694-696)ggT>ggC		zinc finger and BTB domain containing 12							45.0	46.0	46.0					6																	31868387		1915	3876	5791	SO:0001819	synonymous_variant	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868387A>G	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.696T>C	6.37:g.31868387A>G						C2_ENST00000469372.1_Intron	p.G232G	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	871	-			232			Gly-rich.		B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	c.696T>C	CCDS4727.1																																																																																				0.662	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		3	89	0	0	0	0.115264	0	3	89				
PCSK2	5126	broad.mit.edu	37	20	17462658	17462658	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:17462658G>A	ENST00000262545.2	+	12	2175	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	620					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGAGCTGGAGGAAGAGCTGG	0.587																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1858-1860)gaG>gaA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						31.0	26.0	28.0					20																	17462658		2199	4292	6491	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462658G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1860G>A	20.37:g.17462658G>A						PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E	p.E620E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	2175	+			620					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1860G>A	CCDS13125.1																																																																																				0.587	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		7	21	0	0	0	0.307466	0	7	21				
TRPM6	140803	broad.mit.edu	37	9	77457155	77457155	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:77457155T>C	ENST00000360774.1	-	4	494	c.257A>G	c.(256-258)cAc>cGc	p.H86R	TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R|TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000451710.3_Missense_Mutation_p.H86R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	86					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCGTTGTGTGCTTTTCAAC	0.443																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(256-258)cAc>cGc		transient receptor potential cation channel, subfamily M, member 6							217.0	202.0	207.0					9																	77457155		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77457155T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.257A>G	9.37:g.77457155T>C	ENSP00000354006:p.His86Arg					TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R|TRPM6_ENST00000360774.1_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R	p.H86R			Q9BX84	TRPM6_HUMAN			4	494	-			86					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.257A>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654085	0.67472	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.86805	2.84	0.58432	D	0.999996	D;D;D;D;D;P	0.67145	0.989;0.989;0.989;0.985;0.996;0.942	P;P;P;D;D;P	0.66497	0.836;0.836;0.836;0.94;0.944;0.9	T	0.82843	-0.0257	10	0.87932	D	0	.	16.1331	0.81458	0.0:0.0:0.0:1.0	.	86;86;86;86;86;81	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	R	86;86;86;86;81;81;85;86;86	ENSP00000354006:H86R;ENSP00000407341:H86R;ENSP00000366068:H86R;ENSP00000366067:H86R;ENSP00000396672:H81R;ENSP00000354962:H81R;ENSP00000366060:H86R;ENSP00000351942:H86R	ENSP00000351942:H86R	H	-	2	0	TRPM6	76646975	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	7.690000	0.84178	2.202000	0.70862	0.523000	0.50628	CAC		0.443	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	158	0	0	0	0.248553	0	6	158				
SLC24A3	57419	broad.mit.edu	37	20	19664885	19664885	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:19664885C>G	ENST00000328041.6	+	11	1164	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	323					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCACACCAGCTTTCCTTCTC	0.498																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(967-969)Ctt>Gtt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							116.0	104.0	108.0					20																	19664885		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19664885C>G	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.967C>G	20.37:g.19664885C>G	ENSP00000333519:p.Leu323Val						p.L323V	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			11	1164	+			323					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.967C>G	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718345	0.48622	.	.	ENSG00000185052	ENST00000328041	T	0.64438	-0.1	5.55	4.61	0.57282	.	0.057854	0.64402	D	0.000001	T	0.61337	0.2339	M	0.72894	2.215	0.58432	D	0.99999	P	0.37824	0.609	B	0.36885	0.235	T	0.62388	-0.6865	9	.	.	.	.	14.3004	0.66346	0.0:0.9276:0.0:0.0724	.	323	Q9HC58	NCKX3_HUMAN	V	323	ENSP00000333519:L323V	.	L	+	1	0	SLC24A3	19612885	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.359000	0.52292	1.353000	0.45828	-0.355000	0.07637	CTT		0.498	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		20	39	0	0	0	0.592651	0	20	39				
RASA1	5921	broad.mit.edu	37	5	86659176	86659176	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr5:86659176C>T	ENST00000274376.6	+	11	2029	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	RASA1_ENST00000506290.1_Missense_Mutation_p.R323C|RASA1_ENST00000456692.2_Missense_Mutation_p.R312C|RASA1_ENST00000512763.1_Missense_Mutation_p.R322C	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAGGAAAACGTTGGAAAAA	0.274																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(934-936)Cgt>Tgt		RAS p21 protein activator (GTPase activating protein) 1							47.0	51.0	50.0					5																	86659176		2202	4297	6499	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86659176C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1465C>T	5.37:g.86659176C>T	ENSP00000274376:p.Arg489Cys					RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000274376.6_Missense_Mutation_p.R489C|RASA1_ENST00000506290.1_Missense_Mutation_p.R323C	p.R312C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	11	1049	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	489			SH3.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.934C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342629	0.61073	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.58	3.67	0.42095	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.987;0.991;0.987;0.978;0.987	D	0.88321	0.2962	10	0.87932	D	0	.	13.7102	0.62663	0.4641:0.5359:0.0:0.0	.	323;322;323;312;489	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	C	489;522;312;322;323	ENSP00000274376:R489C;ENSP00000411221:R312C;ENSP00000422008:R322C;ENSP00000420905:R323C	ENSP00000274376:R489C	R	+	1	0	RASA1	86694932	0.997000	0.39634	1.000000	0.80357	0.857000	0.48899	0.688000	0.25422	1.321000	0.45227	0.467000	0.42956	CGT		0.274	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		16	75	0	0	0	0.520397	0	16	75				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>A	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	61	0	0	0	0.557998	0	19	61				
MUC16	94025	broad.mit.edu	37	19	9046721	9046721	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:9046721C>A	ENST00000397910.4	-	5	35113	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11639	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGCAGAACTAGTGACCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34909-34911)aGt>aTt		mucin 16, cell surface associated							155.0	153.0	153.0					19																	9046721		2074	4206	6280	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046721C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34910G>T	19.37:g.9046721C>A	ENSP00000381008:p.Ser11637Ile						p.S11637I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35113	-			11639			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34910G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.868	0.344266	0.11126	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.77	-1.14	0.09741	.	.	.	.	.	T	0.05547	0.0146	L	0.39020	1.185	.	.	.	D	0.62365	0.991	P	0.62184	0.899	T	0.36016	-0.9765	8	0.87932	D	0	.	3.7667	0.08626	0.0:0.3013:0.3987:0.3	.	11637	B5ME49	.	I	11637	ENSP00000381008:S11637I	ENSP00000381008:S11637I	S	-	2	0	MUC16	8907721	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.882000	0.04174	-0.122000	0.11766	0.394000	0.25966	AGT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	111	1	0	2.24893e-16	0.847076	2.61504e-16	45	111				
FOXA3	3171	broad.mit.edu	37	19	46376150	46376150	+	Missense_Mutation	SNP	C	C	T	rs200491833		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:46376150C>T	ENST00000302177.2	+	2	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	296					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		13497	0.001		0.0	False		,,,				2504	0.0					ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(886-888)gCg>gTg		forkhead box A3							60.0	55.0	57.0					19																	46376150		2203	4300	6503	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46376150C>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.887C>T	19.37:g.46376150C>T	ENSP00000304004:p.Ala296Val						p.A296V	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	1084	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	296					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.887C>T	CCDS12677.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.325	0.617793	0.14129	.	.	ENSG00000170608	ENST00000302177	D	0.91124	-2.79	4.38	2.26	0.28386	.	0.441952	0.22199	N	0.063276	T	0.78767	0.4335	N	0.12182	0.205	0.25101	N	0.990785	B	0.06786	0.001	B	0.04013	0.001	T	0.65697	-0.6105	10	0.27785	T	0.31	.	8.4863	0.33074	0.0:0.8005:0.0:0.1995	.	296	P55318	FOXA3_HUMAN	V	296	ENSP00000304004:A296V	ENSP00000304004:A296V	A	+	2	0	FOXA3	51067990	0.041000	0.20044	0.132000	0.22025	0.520000	0.34377	1.105000	0.31086	1.188000	0.43014	0.579000	0.79373	GCG		0.602	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			6	32	0	0	0	0.248553	0	6	32				
HPS1	3257	broad.mit.edu	37	10	100195403	100195403	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr10:100195403C>T	ENST00000325103.6	-	4	477	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.V82I	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	82					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTGAAGGACATACAGGAAG	0.537									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(244-246)Gtc>Atc		Hermansky-Pudlak syndrome 1							113.0	112.0	112.0					10																	100195403		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100195403C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.244G>A	10.37:g.100195403C>T	ENSP00000326649:p.Val82Ile					HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000338546.5_Missense_Mutation_p.V82I	p.V82I	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	4	477	-		Colorectal(252;0.234)	82					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.244G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033878	0.75504	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	T;T;T	0.30714	1.52;1.52;1.52	4.96	4.96	0.65561	.	0.117930	0.56097	D	0.000026	T	0.59115	0.2170	M	0.80183	2.485	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.991;0.999;1.0;0.991;1.0	D;D;D;D;D	0.87578	0.965;0.995;0.998;0.965;0.998	T	0.61362	-0.7078	10	0.41790	T	0.15	.	18.216	0.89886	0.0:1.0:0.0:0.0	.	82;82;82;82;82	Q92902;Q92902-3;Q92902-2;Q8WXE5;D3DR62	HPS1_HUMAN;.;.;.;.	I	82	ENSP00000326649:V82I;ENSP00000355310:V82I;ENSP00000343638:V82I	ENSP00000326649:V82I	V	-	1	0	HPS1	100185393	1.000000	0.71417	0.996000	0.52242	0.577000	0.36160	3.466000	0.53071	2.305000	0.77605	0.555000	0.69702	GTC		0.537	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		6	182	0	0	0	0.217242	0	6	182				
SBF2	81846	broad.mit.edu	37	11	9875143	9875143	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:9875143C>A	ENST00000256190.8	-	20	2617	c.2480G>T	c.(2479-2481)tGt>tTt	p.C827F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	827					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTCTCTGTACAAACTTTGTC	0.398																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2479-2481)tGt>tTt		SET binding factor 2							182.0	165.0	171.0					11																	9875143		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9875143C>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2480G>T	11.37:g.9875143C>A	ENSP00000256190:p.Cys827Phe					RP11-1H15.2_ENST00000533659.1_RNA	p.C827F	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	20	2617	-			827					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2480G>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787197	0.90367	.	.	ENSG00000133812	ENST00000256190	D	0.88201	-2.35	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94578	0.7777	10	0.87932	D	0	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	827	Q86WG5	MTMRD_HUMAN	F	827	ENSP00000256190:C827F	ENSP00000256190:C827F	C	-	2	0	SBF2	9831719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.758000	0.94735	0.591000	0.81541	TGT		0.398	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		4	190	1	0	0.150653	0.150653	0.163754	4	190				
HYDIN	54768	broad.mit.edu	37	16	71098695	71098695	+	Silent	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:71098695C>G	ENST00000393567.2	-	16	2274	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000538248.1_Silent_p.G735G|HYDIN_ENST00000448691.1_Silent_p.G708G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	708					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCAGTGCCCAAAGTCCA	0.502																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(2122-2124)ggG>ggC		HYDIN, axonemal central pair apparatus protein							41.0	37.0	38.0					16																	71098695		2198	4297	6495	SO:0001819	synonymous_variant	54768							g.chr16:71098695C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2124G>C	16.37:g.71098695C>G						HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000448691.1_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000538248.1_Silent_p.G735G	p.G708G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			16	2274	-		Ovarian(137;0.0654)	708					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.2124G>C	CCDS59269.1																																																																																				0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	39	0	0	0	0.500413	0	12	39				
DOCK7	85440	broad.mit.edu	37	1	63090967	63090967	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:63090967C>T	ENST00000340370.5	-	12	1405	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.R463Q|DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	463					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTAGCTGGTCGAAAGCTCGT	0.388																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1387-1389)cGa>cAa		dedicator of cytokinesis 7							161.0	161.0	161.0					1																	63090967		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63090967C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1388G>A	1.37:g.63090967C>T	ENSP00000340742:p.Arg463Gln					DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q|DOCK7_ENST00000340370.5_Missense_Mutation_p.R463Q	p.R463Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			12	1421	-			463					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1388G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873756	0.91664	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.37915	1.17;1.17;1.17	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.62088	1.915	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994	D;D;D;D;P	0.97110	0.945;1.0;0.999;0.998;0.864	T	0.55464	-0.8137	10	0.66056	D	0.02	.	17.6705	0.88216	0.0:1.0:0.0:0.0	.	463;463;463;463;463	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	Q	463	ENSP00000251157:R463Q;ENSP00000340742:R463Q;ENSP00000384446:R463Q	ENSP00000251157:R463Q	R	-	2	0	DOCK7	62863555	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.184000	0.77705	2.386000	0.81285	0.467000	0.42956	CGA		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		5	218	0	0	0	0.184627	0	5	218				
DEPDC5	9681	broad.mit.edu	37	22	32293560	32293560	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:32293560C>T	ENST00000382112.3	+	39	4339	c.4269C>T	c.(4267-4269)ggC>ggT	p.G1423G	DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000539165.1_Silent_p.G249G|DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000382111.2_Silent_p.G1432G|DEPDC5_ENST00000400246.1_Silent_p.G1432G|DEPDC5_ENST00000400248.2_Silent_p.G1401G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1432					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTGTATGGCGACCCCCTTC	0.547																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4294-4296)ggC>ggT		DEP domain containing 5							117.0	117.0	117.0					22																	32293560		1951	4136	6087	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32293560C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4269C>T	22.37:g.32293560C>T						DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000382111.2_Silent_p.G1432G|DEPDC5_ENST00000400248.1_Silent_p.G1401G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1423G|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000539165.1_Silent_p.G249G	p.G1432G			O75140	DEPD5_HUMAN			40	4438	+			1401					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.4296C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	c	7.310	0.614732	0.14129	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0104	0.03486	0.2016:0.3145:0.1086:0.3752	.	.	.	.	X	808	.	.	R	+	1	2	DEPDC5	30623560	0.010000	0.17322	0.194000	0.23346	0.899000	0.52679	-0.932000	0.03963	-2.013000	0.00949	-2.542000	0.00179	CGA		0.547	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		38	132	0	0	0	0.819951	0	38	132				
OR5J2	282775	broad.mit.edu	37	11	55944144	55944144	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:55944144G>C	ENST00000312298.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTTGGGATTGACAGATCATG	0.358																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(49-51)ttG>ttC		olfactory receptor, family 5, subfamily J, member 2							138.0	137.0	138.0					11																	55944144		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944144G>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.51G>C	11.37:g.55944144G>C	ENSP00000310788:p.Leu17Phe						p.L17F	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	51	+	Esophageal squamous(21;0.00693)		17					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.51G>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	4.690	0.128285	0.08981	.	.	ENSG00000174957	ENST00000312298	T	0.00551	6.65	4.32	2.16	0.27623	.	0.000000	0.42821	D	0.000654	T	0.00784	0.0026	N	0.20304	0.555	0.28092	N	0.931743	D	0.89917	1.0	D	0.91635	0.999	T	0.58918	-0.7551	10	0.33141	T	0.24	.	8.0595	0.30625	0.1052:0.2367:0.6581:0.0	.	17	Q8NH18	OR5J2_HUMAN	F	17	ENSP00000310788:L17F	ENSP00000310788:L17F	L	+	3	2	OR5J2	55700720	0.000000	0.05858	0.842000	0.33263	0.206000	0.24218	-1.625000	0.02036	0.982000	0.38575	-0.246000	0.11932	TTG		0.358	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		39	148	0	0	0	0.840704	0	39	148				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	108	0	0	0	0.150653	0	3	108				
LETMD1	25875	broad.mit.edu	37	12	51449667	51449667	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:51449667C>G	ENST00000262055.4	+	5	562	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	LETMD1_ENST00000418425.2_Missense_Mutation_p.Q188E|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E|LETMD1_ENST00000547008.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	175	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GACCCCAAAACAACAAACTGA	0.413																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(562-564)Caa>Gaa		LETM1 domain containing 1							99.0	97.0	98.0					12																	51449667		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51449667C>G	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.523C>G	12.37:g.51449667C>G	ENSP00000262055:p.Gln175Glu					LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q175E|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E	p.Q188E	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			5	581	+			175			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.562C>G	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294185	0.81025	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.08	5.08	0.68730	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.992;0.999	D;D;P;D	0.83275	0.987;0.996;0.592;0.996	T	0.58521	-0.7622	10	0.35671	T	0.21	-9.8142	17.7887	0.88546	0.0:1.0:0.0:0.0	.	125;188;58;175	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.;.;.;LTMD1_HUMAN	E	142;81;119;175;125;188;125;58	ENSP00000446862:Q142E;ENSP00000450163:Q119E;ENSP00000262055:Q175E;ENSP00000449896:Q125E;ENSP00000389903:Q188E;ENSP00000450333:Q58E	ENSP00000262055:Q175E	Q	+	1	0	LETMD1	49735934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.826000	0.97356	0.655000	0.94253	CAA		0.413	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		3	163	0	0	0	0.115264	0	3	163				
LOC728339	728339	broad.mit.edu	37	4	190757381	190757382	+	lincRNA	INS	-	-	CAC	rs62653408		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:190757381_190757382insCAC	ENST00000511785.1	-	0	425																											cacaccaccatcaccacatcac	0.51																																						ENST00000511785.1																			0																																																			0							g.chr4:190757381_190757382insCAC																													4.37:g.190757385_190757387dupCAC														0	425	-									RNA	INS	ENST00000511785.1	37																																																																																						0.510	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			4	3						4	3	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4800775	4800776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:4800775_4800776insC	ENST00000328914.4	+	8	1777_1778	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.A430fs	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCCAGATGGCCCCCGGGGTC	0.673																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1777-1779)cccfs		forkhead box K1																																				SO:0001589	frameshift_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4800775_4800776insC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1782dupC	7.37:g.4800780_4800780dupC	ENSP00000328720:p.Ala593fs					FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.P430fs	p.P593fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	8	1777_1778	+		Ovarian(82;0.0175)	593						Frame_Shift_Ins	INS	ENST00000328914.4	37	c.1777_1778insC	CCDS34591.1																																																																																				0.673	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			8	150						8	150	---	---	---	---
RP11-89K10.1	0	broad.mit.edu	37	8	127580025	127580026	+	RNA	INS	-	-	CTTT	rs149531186		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr8:127580025_127580026insCTTT	ENST00000519880.1	+	0	57				RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA																							tttcttgttccctttctttctt	0.455																																						ENST00000519880.1																			0																																																			0							g.chr8:127580025_127580026insCTTT																													8.37:g.127580030_127580033dupCTTT						RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA								0	57	+									RNA	INS	ENST00000519880.1	37																																																																																						0.455	RP11-89K10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000381545.1			3	4						3	4	---	---	---	---
IGHV3-33	28434	broad.mit.edu	37	14	106816104	106816107	+	RNA	DEL	TCTC	TCTC	-	rs546004611	byFrequency	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr14:106816104_106816107delTCTC	ENST00000390615.2	-	0	126									immunoglobulin heavy variable 3-33																		TCACACTCAGTCTCTCTATTTCTC	0.471														5	0.000998403	0.0	0.0	5008	,	,		21019	0.0		0.0	False		,,,				2504	0.0051					ENST00000390615.2																			0																																																			0							g.chr14:106816104_106816107delTCTC	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106816104_106816107delTCTC														0	126	-									RNA	DEL	ENST00000390615.2	37																																																																																						0.471	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		7	6						7	6	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57524958	57524962	+	Frame_Shift_Del	DEL	CCACC	CCACC	-			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:57524958_57524962delCCACC	ENST00000267811.5	+	11	1178_1182	c.874_878delCCACC	c.(874-879)ccaccafs	p.PP292fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	292					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACGAGTCTTCCACCAATGTCCAGC	0.424			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(874-879)afs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57524958_57524962delCCACC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.874_878delCCACC	15.37:g.57524958_57524962delCCACC	ENSP00000267811:p.Pro292fs					TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs	p.PP292fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	11	1178_1182	+		Colorectal(260;0.0907)	292					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.874_878delCCACC	CCDS10159.1																																																																																				0.424	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		14	91						14	91	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939371	76939372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chrX:76939371_76939372insT	ENST00000373344.5	-	9	1590_1591	c.1376_1377insA	c.(1375-1377)aagfs	p.K459fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K421fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	459					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.?(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						TAGCTTCTGACTTTGAAATATC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(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						c.(1375-1377)atcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939371_76939372insT	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.1377dupA	X.37:g.76939374_76939374dupT	ENSP00000362441:p.Lys459fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I421fs	p.I459fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1590_1591	-			459					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1376_1377insA	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		80	343						80	343	---	---	---	---
