#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
KCTD21	283219	broad.mit.edu	37	11	77885166	77885166	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(433-435)aaC>aaT		potassium channel tetramerization domain containing 21							143.0	123.0	130.0					11																	77885166		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885166G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.435C>T	11.37:g.77885166G>A						KCTD21-AS1_ENST00000600795.1_RNA	p.N145N	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	713	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		145					B4DTR0	Silent	SNP	ENST00000340067.3	37	c.435C>T	CCDS31645.1																																																																																				0.552	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		9	124	0	0	0	1	0	9	124				
APEX2	27301	broad.mit.edu	37	X	55033216	55033216	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:55033216C>G	ENST00000374987.3	+	6	971	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	302					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GTGATGGGCTCTGACCACTGC	0.587								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(904-906)tCt>tGt	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							53.0	48.0	50.0					X																	55033216		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033216C>G	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.905C>G	X.37:g.55033216C>G	ENSP00000364126:p.Ser302Cys						p.S302C	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	971	+			302					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.905C>G	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766785	0.69878	.	.	ENSG00000169188	ENST00000374987	D	0.96885	-4.16	4.36	4.36	0.52297	Endonuclease/exonuclease/phosphatase (2);	0.060161	0.64402	D	0.000001	D	0.98839	0.9608	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99470	1.0945	10	0.87932	D	0	-15.7705	15.592	0.76537	0.0:1.0:0.0:0.0	.	302	Q9UBZ4	APEX2_HUMAN	C	302	ENSP00000364126:S302C	ENSP00000364126:S302C	S	+	2	0	APEX2	55049941	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.491000	0.73649	2.125000	0.65367	0.600000	0.82982	TCT		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			3	79	0	0	0	1	0	3	79				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(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	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	p.R306*	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)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	103	0	0	0	1	0	58	103				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	136	0	0	0	1	0	4	136				
DUOX1	53905	broad.mit.edu	37	15	45445612	45445612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:45445612C>A	ENST00000321429.4	+	27	3866	c.3459C>A	c.(3457-3459)taC>taA	p.Y1153*	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|DUOX1_ENST00000559221.1_3'UTR	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1153	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAATGTGTACCTGTTCTCCA	0.552																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3457-3459)taC>taA		dual oxidase 1							322.0	244.0	270.0					15																	45445612		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45445612C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3459C>A	15.37:g.45445612C>A	ENSP00000317997:p.Tyr1153*					DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*	p.Y1153*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	27	3866	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1153			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.3459C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	43	10.120616	0.99340	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.88	4.88	0.63580	.	0.238609	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0784	15.9021	0.79387	0.0:1.0:0.0:0.0	.	.	.	.	X	1153	.	ENSP00000317997:Y1153X	Y	+	3	2	DUOX1	43232904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.748000	0.55142	2.705000	0.92388	0.650000	0.86243	TAC		0.552	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	291	1	0	1.024e-07	1	1.07733e-07	5	291				
DGKK	139189	broad.mit.edu	37	X	50136278	50136278	+	RNA	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:50136278T>C	ENST00000376025.2	-	0	1526							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAAGGGACATGAACAGGCTG	0.428																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							85.0	80.0	82.0					X																	50136278		2035	4175	6210			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136278T>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136278T>C										Q5KSL6	DGKK_HUMAN			0	1526	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.428	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		27	27	0	0	0	1	0	27	27				
MUC16	94025	broad.mit.edu	37	19	9075042	9075042	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:9075042G>A	ENST00000397910.4	-	3	12607	c.12404C>T	c.(12403-12405)aCc>aTc	p.T4135I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4137	Ser-rich.|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						AAAGAGAGTGGTCTTCTCTGA	0.502																																						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.(12403-12405)aCc>aTc		mucin 16, cell surface associated							142.0	133.0	136.0					19																	9075042		2062	4189	6251	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075042G>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.12404C>T	19.37:g.9075042G>A	ENSP00000381008:p.Thr4135Ile						p.T4135I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12607	-			4137			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12404C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.573	0.880520	0.17467	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	1.93	-1.97	0.07503	.	.	.	.	.	T	0.21718	0.0523	L	0.27053	0.805	.	.	.	B	0.31383	0.321	B	0.35655	0.207	T	0.32719	-0.9896	8	0.87932	D	0	.	0.7984	0.01070	0.1625:0.235:0.3636:0.2388	.	4135	B5ME49	.	I	4135	ENSP00000381008:T4135I	ENSP00000381008:T4135I	T	-	2	0	MUC16	8936042	0.000000	0.05858	0.002000	0.10522	0.653000	0.38743	-0.281000	0.08456	-0.390000	0.07774	0.313000	0.20887	ACC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	100	0	0	0	1	0	54	100				
MUC17	140453	broad.mit.edu	37	7	100683618	100683618	+	Missense_Mutation	SNP	G	G	T	rs535974335		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:100683618G>T	ENST00000306151.4	+	3	8985	c.8921G>T	c.(8920-8922)gGt>gTt	p.G2974V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2974	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTACCAGCATG	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8920-8922)gGt>gTt		mucin 17, cell surface associated							215.0	225.0	222.0					7																	100683618		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683618G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8921G>T	7.37:g.100683618G>T	ENSP00000302716:p.Gly2974Val						p.G2974V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8985	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2974			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8921G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	3.548	-0.092355	0.07053	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.753	-1.51	0.08664	.	.	.	.	.	T	0.03520	0.0101	N	0.20986	0.625	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.40175	-0.9577	9	0.13108	T	0.6	.	5.7794	0.18297	0.2956:0.0:0.7044:0.0	.	2974	Q685J3	MUC17_HUMAN	V	2974	ENSP00000302716:G2974V	ENSP00000302716:G2974V	G	+	2	0	MUC17	100470338	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.898000	0.04105	-0.543000	0.06240	0.121000	0.15741	GGT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	810	1	0	8.12818e-05	1	8.46337e-05	7	810				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>C		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.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	118	0	0	0	1	0	71	118				
SLIT1	6585	broad.mit.edu	37	10	98766462	98766462	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:98766462C>G	ENST00000266058.4	-	32	3602	c.3357G>C	c.(3355-3357)gaG>gaC	p.E1119D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1119	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGGAGGGATCTCACAGAGCT	0.577																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3355-3357)gaG>gaC		slit homolog 1 (Drosophila)							20.0	21.0	21.0					10																	98766462		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98766462C>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3357G>C	10.37:g.98766462C>G	ENSP00000266058:p.Glu1119Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	32	3602	-		Colorectal(252;0.162)	1119			EGF-like 5.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3357G>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080605	0.76528	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94316	0.7549	10	0.62326	D	0.03	.	12.2626	0.54660	0.0:0.923:0.0:0.077	.	1119	O75093	SLIT1_HUMAN	D	1119	ENSP00000266058:E1119D;ENSP00000360109:E1119D	ENSP00000266058:E1119D	E	-	3	2	SLIT1	98756452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.946000	0.40283	2.698000	0.92095	0.655000	0.94253	GAG		0.577	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	41	0	0	0	1	0	14	41				
AHNAK	79026	broad.mit.edu	37	11	62292927	62292927	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:62292927C>T	ENST00000378024.4	-	5	9236	c.8962G>A	c.(8962-8964)Gtg>Atg	p.V2988M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2988					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTTCCACTTTGGGCAGA	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8962-8964)Gtg>Atg		AHNAK nucleoprotein							140.0	149.0	146.0					11																	62292927		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292927C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8962G>A	11.37:g.62292927C>T	ENSP00000367263:p.Val2988Met					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V2988M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9236	-		Melanoma(852;0.155)	2988					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8962G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	9.871	1.198888	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.01240	5.12	4.14	-0.293	0.12835	.	.	.	.	.	T	0.01627	0.0052	L	0.60845	1.875	0.22412	N	0.999123	P	0.49559	0.925	B	0.42422	0.387	T	0.43212	-0.9405	9	0.30078	T	0.28	-1.0651	0.8921	0.01256	0.1561:0.2687:0.3064:0.2688	.	2988	Q09666	AHNK_HUMAN	M	2988	ENSP00000367263:V2988M	ENSP00000367263:V2988M	V	-	1	0	AHNAK	62049503	0.000000	0.05858	0.095000	0.20976	0.086000	0.17979	-1.670000	0.01956	-0.016000	0.14127	0.450000	0.29827	GTG		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	570	0	0	0	1	0	7	570				
NLGN3	54413	broad.mit.edu	37	X	70367807	70367807	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:70367807C>A	ENST00000358741.3	+	2	511	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000374051.3_Missense_Mutation_p.L70M	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	70					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGACCAATACCTGGGGGTGCC	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(208-210)Ctg>Atg		neuroligin 3							49.0	43.0	45.0					X																	70367807		2203	4299	6502	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367807C>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.208C>A	X.37:g.70367807C>A	ENSP00000351591:p.Leu70Met					NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L70M	p.L70M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	530	+	Renal(35;0.156)		70					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.208C>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787895	0.49997	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.78	2.07	0.26955	.	0.079753	0.52532	D	0.000068	T	0.78489	0.4291	M	0.87097	2.86	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.77368	-0.2614	10	0.72032	D	0.01	.	9.2703	0.37668	0.0:0.7581:0.0:0.2419	.	70;70;70	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	M	70	ENSP00000445298:L70M;ENSP00000363163:L70M;ENSP00000379196:L70M;ENSP00000351591:L70M	ENSP00000351591:L70M	L	+	1	2	NLGN3	70284532	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.638000	0.54332	0.123000	0.18342	0.529000	0.55759	CTG		0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		4	63	1	0	0.00024832	1	0.000255922	4	63				
DCAF12L2	340578	broad.mit.edu	37	X	125299762	125299762	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:125299762C>T	ENST00000360028.2	-	1	172	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R49H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACCAGCCTGCGACGCGTCGC	0.726																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(145-147)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							13.0	16.0	15.0					X																	125299762		1853	3753	5606	SO:0001583	missense	340578							g.chrX:125299762C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.146G>A	X.37:g.125299762C>T	ENSP00000353128:p.Arg49His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R49H	p.R49H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	226	-			49					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.146G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.998681	0.93227	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19669	2.13;2.13	3.11	3.11	0.35812	.	.	.	.	.	T	0.29028	0.0721	L	0.52364	1.645	0.21740	N	0.999569	D	0.89917	1.0	P	0.60609	0.877	T	0.11421	-1.0588	9	0.19147	T	0.46	.	5.4755	0.16694	0.0:0.8453:0.0:0.1547	.	49	Q5VW00	DC122_HUMAN	H	49	ENSP00000441489:R49H;ENSP00000353128:R49H	ENSP00000353128:R49H	R	-	2	0	DCAF12L2	125127443	0.020000	0.18652	0.006000	0.13384	0.820000	0.46376	1.406000	0.34646	1.830000	0.53286	0.287000	0.19450	CGC		0.726	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		7	85	0	0	0	1	0	7	85				
OR4P4	81300	broad.mit.edu	37	11	55405846	55405846	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:55405846A>C	ENST00000314612.2	+	1	13	c.13A>C	c.(13-15)Aat>Cat	p.N5H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGAAAAAAGCAATAATAGCAC	0.308																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(13-15)Aat>Cat		olfactory receptor, family 4, subfamily P, member 4							108.0	108.0	108.0					11																	55405846		2183	4020	6203	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405846A>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.13A>C	11.37:g.55405846A>C	ENSP00000324831:p.Asn5His						p.N5H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	13	+			5						Missense_Mutation	SNP	ENST00000314612.2	37	c.13A>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384021	0.42308	.	.	ENSG00000181927	ENST00000314612	T	0.02197	4.4	4.93	3.79	0.43588	.	0.907116	0.09125	N	0.845137	T	0.04770	0.0129	L	0.31578	0.945	0.09310	N	1	P	0.52170	0.951	P	0.54706	0.759	T	0.50541	-0.8816	10	0.44086	T	0.13	-3.2437	9.8641	0.41131	0.9151:0.0:0.0849:0.0	.	5	Q8NGL7	OR4P4_HUMAN	H	5	ENSP00000324831:N5H	ENSP00000324831:N5H	N	+	1	0	OR4P4	55162422	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.270000	0.18607	1.865000	0.54081	0.509000	0.49947	AAT		0.308	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		138	211	0	0	0	1	0	138	211				
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1636-1638)tgC>tgT		agrin		C		1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	48.0		1638	-7.3	0.9	1	dbSNP_134	48	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	AGRN	NM_198576.3		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		546/2046	978952	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:978952C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1638C>T	1.37:g.978952C>T							p.C546C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	9	1688	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	546			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1638C>T	CCDS30551.1																																																																																				0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		50	72	0	0	0	1	0	50	72				
CCDC85A	114800	broad.mit.edu	37	2	56420286	56420286	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:56420286C>T	ENST00000407595.2	+	2	1453	c.951C>T	c.(949-951)ttC>ttT	p.F317F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	317	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGGAACACTTCCAGAAGCACC	0.642																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(949-951)ttC>ttT		coiled-coil domain containing 85A							59.0	69.0	66.0					2																	56420286		2032	4186	6218	SO:0001819	synonymous_variant	114800							g.chr2:56420286C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.951C>T	2.37:g.56420286C>T						RP11-482H16.1_ENST00000607540.1_RNA	p.F317F	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1453	+			317			His-rich.			Silent	SNP	ENST00000407595.2	37	c.951C>T	CCDS46290.1																																																																																				0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	219	0	0	0	1	0	5	219				
ITGA10	8515	broad.mit.edu	37	1	145533526	145533526	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:145533526C>G	ENST00000369304.3	+	12	1584	c.1409C>G	c.(1408-1410)gCt>gGt	p.A470G	ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G|ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1408-1410)gCt>gGt		integrin, alpha 10							41.0	44.0	43.0					1																	145533526		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533526C>G	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1409C>G	1.37:g.145533526C>G	ENSP00000358310:p.Ala470Gly					ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G	p.A470G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		470					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1409C>G	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208680	0.22205	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11604	2.76;2.76;2.76	4.74	3.82	0.43975	.	0.641636	0.15726	N	0.247676	T	0.01421	0.0046	N	0.04090	-0.28	0.25831	N	0.98417	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.0;0.001	T	0.45862	-0.9232	10	0.34782	T	0.22	.	5.9143	0.19045	0.0:0.6985:0.1957:0.1059	.	436;339;327;470	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	G	470;436;327;339	ENSP00000358310:A470G;ENSP00000439894:A327G;ENSP00000440011:A339G	ENSP00000358310:A470G	A	+	2	0	ITGA10	144244883	0.008000	0.16893	1.000000	0.80357	0.998000	0.95712	0.760000	0.26475	1.201000	0.43203	0.655000	0.94253	GCT		0.587	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		5	89	0	0	0	1	0	5	89				
ATRX	546	broad.mit.edu	37	X	76912144	76912144	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76912144C>G	ENST00000373344.5	-	13	4335		c.e13-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TCACTGCTCACTTGaatttta	0.318			"""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.e13-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						41.0	37.0	38.0					X																	76912144		2203	4294	6497	SO:0001630	splice_region_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:76912144C>G	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.4121-1G>C	X.37:g.76912144C>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			13	4335	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045684	0.75846	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7465	0.88422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76798800	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.275000	0.72594	2.221000	0.72209	0.544000	0.68410	.		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	34	87	0	0	0	1	0	34	87				
SLC24A3	57419	broad.mit.edu	37	20	19674050	19674050	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:19674050C>G	ENST00000328041.6	+	13	1669	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	491					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						GCAGCCTTCTCCTACATGATG	0.493																																						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.(1471-1473)tCc>tGc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							100.0	83.0	89.0					20																	19674050		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19674050C>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.1472C>G	20.37:g.19674050C>G	ENSP00000333519:p.Ser491Cys					RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	p.S491C	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			13	1669	+			491					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1472C>G	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722828	0.89298	.	.	ENSG00000185052	ENST00000328041	T	0.67698	-0.28	5.43	5.43	0.79202	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85641	0.1276	9	.	.	.	.	18.8532	0.92241	0.0:1.0:0.0:0.0	.	491	Q9HC58	NCKX3_HUMAN	C	491	ENSP00000333519:S491C	.	S	+	2	0	SLC24A3	19622050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	TCC		0.493	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		6	112	0	0	0	1	0	6	112				
FOXD4L1	200350	broad.mit.edu	37	2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(436-438)cGc>cAc		forkhead box D4-like 1							21.0	29.0	26.0					2																	114257270		1969	3887	5856	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA 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.chr2:114257270G>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.437G>A	2.37:g.114257270G>A	ENSP00000302756:p.Arg146His						p.R146H	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	610	+			146					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.437G>A	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632869	0.67015	.	.	ENSG00000184492	ENST00000306507	D	0.95518	-3.73	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.32161	U	0.006500	D	0.93122	0.7810	N	0.13327	0.33	0.34798	D	0.736421	D	0.89917	1.0	D	0.70716	0.97	D	0.92718	0.6189	10	0.62326	D	0.03	.	5.4261	0.16427	0.1646:0.0:0.8354:0.0	.	146	Q9NU39	FX4L1_HUMAN	H	146	ENSP00000302756:R146H	ENSP00000302756:R146H	R	+	2	0	FOXD4L1	113973740	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.860000	0.55995	1.452000	0.47756	0.184000	0.17185	CGC		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		5	492	0	0	0	1	0	5	492				
PHACTR1	221692	broad.mit.edu	37	6	13273136	13273136	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:13273136A>G	ENST00000379350.1	+	10	1565	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	479					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAACAGAGGAACATTTTGAAA	0.463																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1435-1437)aAc>aGc		phosphatase and actin regulator 1							224.0	230.0	228.0					6																	13273136		1914	4137	6051	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13273136A>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1436A>G	6.37:g.13273136A>G	ENSP00000368655:p.Asn479Ser					PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S	p.N479S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		10	1565	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	479					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1436A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.646672|4.646672	0.87958|0.87958	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329|ENST00000415087	T;T;T|.	0.52983|.	0.67;0.8;0.64|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74183|0.74183	0.3683|0.3683	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.974|.	D;D|.	0.85130|.	0.997;0.953|.	T|T	0.77619|0.77619	-0.2520|-0.2520	10|5	0.72032|.	D|.	0.01|.	-28.3641|-28.3641	15.5298|15.5298	0.75948|0.75948	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	479;479|.	Q9C0D0;Q9C0D0-2|.	PHAR1_HUMAN;.|.	S|A	479;479;334;43;43|314	ENSP00000368655:N479S;ENSP00000329880:N479S;ENSP00000397669:N334S|.	ENSP00000329880:N479S|.	N|T	+|+	2|1	0|0	PHACTR1|PHACTR1	13381115|13381115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.020000|8.020000	0.88740|0.88740	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.463	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		15	380	0	0	0	1	0	15	380				
C22orf23	84645	broad.mit.edu	37	22	38343398	38343398	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr22:38343398G>A	ENST00000249079.2	-	4	495	c.239C>T	c.(238-240)tCg>tTg	p.S80L	C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	80										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GTAGATGGGCGAGGCTATTTG	0.607																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(238-240)tCg>tTg		chromosome 22 open reading frame 23							145.0	125.0	131.0					22																	38343398		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38343398G>A	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.239C>T	22.37:g.38343398G>A	ENSP00000249079:p.Ser80Leu					C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L	p.S80L			Q9BZE7	EVG1_HUMAN			4	495	-	Melanoma(58;0.045)		80					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.239C>T	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971817	0.18736	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T	0.46819	0.87;0.87;0.87;0.86	5.08	5.08	0.68730	.	1.370530	0.05121	N	0.490820	T	0.48537	0.1505	L	0.54323	1.7	0.09310	N	0.999999	P	0.45474	0.859	B	0.35655	0.207	T	0.55786	-0.8086	10	0.49607	T	0.09	3.7926	17.0109	0.86406	0.0:0.0:1.0:0.0	.	80	Q9BZE7	EVG1_HUMAN	L	80	ENSP00000384667:S80L;ENSP00000249079:S80L;ENSP00000384618:S80L;ENSP00000395077:S80L	ENSP00000249079:S80L	S	-	2	0	C22orf23	36673344	0.512000	0.26186	0.005000	0.12908	0.117000	0.20001	2.747000	0.47475	2.504000	0.84457	0.555000	0.69702	TCG		0.607	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		4	148	0	0	0	1	0	4	148				
ZMYM2	7750	broad.mit.edu	37	13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A	rs542204363		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:20641084G>A	ENST00000382874.2	+	21	3416	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1076I|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16516	0.0		0.0	False		,,,				2504	0.0					ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3226-3228)Gta>Ata		zinc finger, MYM-type 2							128.0	119.0	122.0					13																	20641084		1863	4096	5959	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641084G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3226G>A	13.37:g.20641084G>A	ENSP00000372327:p.Val1076Ile					ZMYM2_ENST00000382870.2_Missense_Mutation_p.V456I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.V1076I	p.V1076I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	20	3477	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1076					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.3226G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027658	0.35797	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25579	1.79	5.06	5.06	0.68205	.	0.270733	0.36200	N	0.002736	T	0.17195	0.0413	N	0.10809	0.05	0.80722	D	1	B	0.21905	0.062	B	0.10450	0.005	T	0.04915	-1.0918	10	0.48119	T	0.1	-11.2344	18.4254	0.90607	0.0:0.0:1.0:0.0	.	1076	Q9UBW7	ZMYM2_HUMAN	I	1076;1076;1074;1074;454	ENSP00000372322:V1076I	ENSP00000372322:V1076I	V	+	1	0	ZMYM2	19539084	0.994000	0.37717	0.833000	0.33012	0.632000	0.37999	2.176000	0.42500	2.354000	0.79902	0.455000	0.32223	GTA		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		21	38	0	0	0	1	0	21	38				
PCDH18	54510	broad.mit.edu	37	4	138449670	138449670	+	Missense_Mutation	SNP	A	A	C	rs375187095		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:138449670A>C	ENST00000344876.4	-	3	3088	c.2702T>G	c.(2701-2703)tTc>tGc	p.F901C	PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	901	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGTCGCTGAATCCTTCACC	0.443																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2701-2703)tTc>tGc		protocadherin 18		A	CYS/PHE	0,4406		0,0,2203	176.0	192.0	187.0		2702	5.6	1.0	4		187	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH18	NM_019035.3	205	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	probably-damaging	901/1136	138449670	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449670A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2702T>G	4.37:g.138449670A>C	ENSP00000355082:p.Phe901Cys					PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C	p.F901C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			3	3088	-	all_hematologic(180;0.24)		901			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2702T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.832510	0.91036	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55052	0.64;0.64;0.54;1.42;1.41	5.56	5.56	0.83823	.	0.000000	0.45606	D	0.000342	T	0.70701	0.3254	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;D	0.74674	0.984;0.888;0.871;0.921	T	0.74278	-0.3717	10	0.87932	D	0	.	15.7229	0.77728	1.0:0.0:0.0:0.0	.	81;680;900;901	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	C	901;900;680;112;81	ENSP00000355082:F901C;ENSP00000390688:F900C;ENSP00000425903:F680C;ENSP00000424269:F112C;ENSP00000425647:F81C	ENSP00000355082:F901C	F	-	2	0	PCDH18	138669120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.904000	0.92590	2.108000	0.64289	0.533000	0.62120	TTC		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	391	0	0	0	1	0	16	391				
PPP1R3A	5506	broad.mit.edu	37	7	113518831	113518831	+	Silent	SNP	C	C	T	rs34610491	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:113518831C>T	ENST00000284601.3	-	4	2384	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGATCAAACGCTGTTTCCT	0.408													C|||	5	0.000998403	0.0038	0.0	5008	,	,		23127	0.0		0.0	False		,,,				2504	0.0					ENST00000284601.3																			1	Substitution - coding silent(1)	p.A772A(1)	lung(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2314-2316)gcG>gcA		protein phosphatase 1, regulatory subunit 3A		C		2,4404	4.2+/-10.8	0,2,2201	125.0	108.0	114.0		2316	0.9	1.0	7	dbSNP_126	114	0,8598		0,0,4299	no	coding-synonymous	PPP1R3A	NM_002711.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		772/1123	113518831	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518831C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2316G>A	7.37:g.113518831C>T							p.A772A	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2384	-			772					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2316G>A	CCDS5759.1																																																																																				0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		14	301	0	0	0	1	0	14	301				
BAHCC1	57597	broad.mit.edu	37	17	79410429	79410429	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:79410429G>A	ENST00000307745.7	+	9	2054	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H																								GACTGTGCCCGCAGCAGGGAG	0.682																																						ENST00000307745.7																			0											c.(2053-2055)cGc>cAc									10.0	12.0	11.0					17																	79410429		2047	4160	6207	SO:0001583	missense	0							g.chr17:79410429G>A																												ENST00000307745.7:c.2054G>A	17.37:g.79410429G>A	ENSP00000303486:p.Arg685His						p.R685H							9	2054	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2054G>A		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874164	0.72180	.	.	ENSG00000171282	ENST00000307745	T	0.18657	2.2	4.24	4.24	0.50183	.	.	.	.	.	T	0.43567	0.1253	M	0.67953	2.075	0.34294	D	0.683605	D	0.89917	1.0	D	0.65874	0.939	T	0.60286	-0.7293	9	0.87932	D	0	.	15.5644	0.76277	0.0:0.0:1.0:0.0	.	685	Q9P281	BAHC1_HUMAN	H	685	ENSP00000303486:R685H	ENSP00000303486:R685H	R	+	2	0	AC110285.1	77025024	0.004000	0.15560	0.997000	0.53966	0.710000	0.40934	1.438000	0.35002	2.190000	0.69967	0.563000	0.77884	CGC		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	26	0	0	0	1	0	3	26				
ERO1L	30001	broad.mit.edu	37	14	53113132	53113132	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:53113132A>G	ENST00000395686.3	-	14	1396	c.1173T>C	c.(1171-1173)tgT>tgC	p.C391C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	391					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AACAACCAACACAATCCATAA	0.294																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1171-1173)tgT>tgC		ERO1-like (S. cerevisiae)							99.0	107.0	104.0					14																	53113132		2203	4299	6502	SO:0001819	synonymous_variant	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53113132A>G	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1173T>C	14.37:g.53113132A>G							p.C391C	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			14	1396	-	Breast(41;0.226)		391					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	ENST00000395686.3	37	c.1173T>C	CCDS9709.1																																																																																				0.294	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		17	166	0	0	0	1	0	17	166				
FMN1	342184	broad.mit.edu	37	15	33149252	33149252	+	Missense_Mutation	SNP	G	G	C	rs575817325		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:33149252G>C	ENST00000559047.1	-	14	3891	c.3892C>G	c.(3892-3894)Cct>Gct	p.P1298A	FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000334528.9_Missense_Mutation_p.P1075A			Q68DA7	FMN1_HUMAN	formin 1	1298	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTGAAAGGCTGGAGATAC	0.443																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3223-3225)Cct>Gct		formin 1							126.0	127.0	127.0					15																	33149252		1945	4131	6076	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33149252G>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3892C>G	15.37:g.33149252G>C	ENSP00000454047:p.Pro1298Ala					FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000559047.1_Missense_Mutation_p.P1298A	p.P1075A	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	13	3222	-		all_lung(180;1.14e-07)	1298			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3223C>G		.	.	.	.	.	.	.	.	.	.	G	17.98	3.520055	0.64747	.	.	ENSG00000248905	ENST00000334528	T	0.16743	2.32	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.81497	2.545	0.18873	N	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.53136	-0.8481	9	0.59425	D	0.04	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1075	Q68DA7-5	.	A	1075	ENSP00000333950:P1075A	ENSP00000333950:P1075A	P	-	1	0	FMN1	30936544	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	CCT		0.443	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		61	97	0	0	0	1	0	61	97				
MAGEC1	9947	broad.mit.edu	37	X	140995747	140995747	+	Missense_Mutation	SNP	A	A	G	rs139093022	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:140995747A>G	ENST00000285879.4	+	4	2843	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	853										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTCCAGAGTCCTGTGAT	0.512										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2557-2559)Agt>Ggt		melanoma antigen family C, 1							120.0	127.0	125.0					X																	140995747		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995747A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2557A>G	X.37:g.140995747A>G	ENSP00000285879:p.Ser853Gly	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S853G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2843	+	Acute lymphoblastic leukemia(192;6.56e-05)		853					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2557A>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	5.011	0.187658	0.09547	.	.	ENSG00000155495	ENST00000285879	T	0.02216	4.39	1.27	-0.759	0.11045	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.34692	D	0.725818	B	0.06786	0.001	B	0.04013	0.001	T	0.48747	-0.9008	9	0.25106	T	0.35	.	2.0017	0.03468	0.5286:0.0:0.2121:0.2592	.	853	O60732	MAGC1_HUMAN	G	853	ENSP00000285879:S853G	ENSP00000285879:S853G	S	+	1	0	MAGEC1	140823413	0.148000	0.22702	0.006000	0.13384	0.016000	0.09150	0.664000	0.25068	-0.593000	0.05844	-0.836000	0.03065	AGT		0.512	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	434	0	0	0	1	0	6	434				
RASGRP4	115727	broad.mit.edu	37	19	38912756	38912756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:38912756G>A	ENST00000587738.1	-	2	131	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000454404.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGCCTCGCCCTCCTATT	0.612																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(61-63)Cga>Tga		RAS guanyl releasing protein 4							34.0	41.0	39.0					19																	38912756		1934	4132	6066	SO:0001587	stop_gained	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912756G>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.61C>T	19.37:g.38912756G>A	ENSP00000465772:p.Arg21*					RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R21*	p.R21*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	274	-	all_cancers(60;4.21e-06)		21					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Nonsense_Mutation	SNP	ENST00000587738.1	37	c.61C>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414375	0.62511	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	.	.	.	4.07	2.99	0.34606	.	0.770535	0.11194	N	0.589583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0923	4.9522	0.14021	0.1088:0.0:0.6794:0.2118	.	.	.	.	X	21	.	ENSP00000293062:R21X	R	-	1	2	RASGRP4	43604596	0.038000	0.19896	0.598000	0.28837	0.101000	0.19017	1.700000	0.37815	1.021000	0.39600	0.462000	0.41574	CGA		0.612	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		26	53	0	0	0	1	0	26	53				
LRRC16A	55604	broad.mit.edu	37	6	25610405	25610405	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:25610405G>A	ENST00000329474.6	+	36	4343	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1325					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATTTTCACAGGAAGGTAAGG	0.458																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3973-3975)caG>caA		leucine rich repeat containing 16A							49.0	51.0	50.0					6																	25610405		1826	4086	5912	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25610405G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3975G>A	6.37:g.25610405G>A						LRRC16A_ENST00000476458.1_3'UTR	p.Q1325Q	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			36	4343	+			1325					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.3975G>A	CCDS54973.1																																																																																				0.458	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		4	113	0	0	0	1	0	4	113				
PTPRM	5797	broad.mit.edu	37	18	8370965	8370965	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:8370965A>G	ENST00000332175.8	+	22	4130	c.3093A>G	c.(3091-3093)ctA>ctG	p.L1031L	PTPRM_ENST00000400053.4_Silent_p.L969L|PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000580170.1_Silent_p.L1044L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1031	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACAGAACTACTGGCAGAAT	0.343																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3091-3093)ctA>ctG		protein tyrosine phosphatase, receptor type, M							100.0	100.0	100.0					18																	8370965		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8370965A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3093A>G	18.37:g.8370965A>G						PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000580170.1_Silent_p.L1044L|PTPRM_ENST00000400053.4_Silent_p.L969L	p.L1031L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			22	4130	+		Colorectal(10;0.234)	1031			Tyrosine-protein phosphatase 1.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.3093A>G	CCDS11840.1																																																																																				0.343	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			7	141	0	0	0	1	0	7	141				
CDH26	60437	broad.mit.edu	37	20	58564210	58564210	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:58564210C>T	ENST00000244047.5	+	9	1586	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	CDH26_ENST00000348616.4_Silent_p.S425S			Q8IXH8	CAD26_HUMAN	cadherin 26	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCAGACAGCCAGATAAGGT	0.542																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1273-1275)agC>agT		cadherin 26							124.0	148.0	140.0					20																	58564210		2202	4299	6501	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564210C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1275C>T	20.37:g.58564210C>T						CDH26_ENST00000244047.5_Silent_p.S425S	p.S425S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1575	+	all_lung(29;0.00963)		425			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1275C>T		.	.	.	.	.	.	.	.	.	.	C	4.708	0.131694	0.08981	.	.	ENSG00000124215	ENST00000370991	.	.	.	5.02	0.305	0.15801	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	.	4.0538	0.09808	0.0:0.4576:0.23:0.3123	.	.	.	.	V	17	.	.	A	+	2	0	CDH26	57997605	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	-0.004000	0.12878	0.259000	0.21709	0.655000	0.94253	GCC		0.542	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	510	0	0	0	1	0	5	510				
KCNMA1	3778	broad.mit.edu	37	10	78651416	78651416	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:78651416G>A	ENST00000286628.8	-	26	3208	c.3209C>T	c.(3208-3210)cCg>cTg	p.P1070L	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P1012L|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|RP11-443A13.5_ENST00000595702.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1070					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTCCAGCTCCGGCGTGGCTCC	0.577																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3034-3036)cCg>cTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						60.0	61.0	61.0					10																	78651416		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651416G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3209C>T	10.37:g.78651416G>A	ENSP00000286628:p.Pro1070Leu					RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1070L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|RP11-443A13.5_ENST00000458661.2_RNA	p.P1012L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	3987	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1070					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3035C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.545636|4.545636	0.86022|0.86022	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.85258|.	-1.93;-1.93;-1.95;-1.96;-1.95;-1.91;-1.96;-1.94;-1.92|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71837|0.71837	0.3387|0.3387	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.89917|.	1.0;0.979;0.988;1.0;0.988;0.92;0.999;0.979|.	D;P;P;D;P;P;D;P|.	0.76575|.	0.964;0.658;0.815;0.988;0.703;0.508;0.951;0.658|.	T|T	0.68093|0.68093	-0.5500|-0.5500	10|5	0.87932|.	D|.	0|.	-8.2411|-8.2411	19.4341|19.4341	0.94783|0.94783	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1041;1042;1053;1070;1012;823;1073;1039|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|W	1012;949;1005;1044;1007;1039;1012;1044;1074;1073;1053;823|963	ENSP00000361517:P1012L;ENSP00000361485:P949L;ENSP00000361514:P1005L;ENSP00000396608:P1044L;ENSP00000361520:P1039L;ENSP00000286627:P1012L;ENSP00000385552:P1074L;ENSP00000346321:P1073L;ENSP00000385806:P1053L|.	ENSP00000286627:P1012L|.	P|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78321422|78321422	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.646000|0.646000	0.38490|0.38490	9.476000|9.476000	0.97823|0.97823	2.607000|2.607000	0.88179|0.88179	0.585000|0.585000	0.79938|0.79938	CCG|CGG		0.577	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		53	59	0	0	0	1	0	53	59				
POLR2A	5430	broad.mit.edu	37	17	7415831	7415831	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7415831A>T	ENST00000322644.6	+	27	4927	c.4528A>T	c.(4528-4530)Atg>Ttg	p.M1510L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1510					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAGTCCCATGGGTGGAAT	0.557																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4528-4530)Atg>Ttg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							58.0	52.0	54.0					17																	7415831		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415831A>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4528A>T	17.37:g.7415831A>T	ENSP00000314949:p.Met1510Leu						p.M1510L	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4927	+		Prostate(122;0.173)	1510					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4528A>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898511	0.33535	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.69306	-0.39	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42982	-0.9419	10	0.41790	T	0.15	-16.8859	12.9389	0.58331	1.0:0.0:0.0:0.0	.	1510	P24928	RPB1_HUMAN	L	1466;409;1510	ENSP00000314949:M1510L	ENSP00000314949:M1510L	M	+	1	0	SLC35G6	7356555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.443000	0.73447	1.889000	0.54706	0.374000	0.22700	ATG		0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		67	91	0	0	0	1	0	67	91				
GTF2F1	2962	broad.mit.edu	37	19	6391946	6391946	+	Silent	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:6391946T>C	ENST00000394456.5	-	3	563	c.99A>G	c.(97-99)gcA>gcG	p.A33A	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.A5A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	33					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTTGTCGGCTGCATTAAAAG	0.443																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(97-99)gcA>gcG		general transcription factor IIF, polypeptide 1, 74kDa							209.0	190.0	196.0					19																	6391946		2201	4297	6498	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6391946T>C		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.99A>G	19.37:g.6391946T>C						GTF2F1_ENST00000429701.2_Silent_p.A5A	p.A33A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			3	563	-			33					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.99A>G	CCDS12165.1																																																																																				0.443	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		5	15	0	0	0	1	0	5	15				
NWD1	284434	broad.mit.edu	37	19	16902375	16902375	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:16902375T>C	ENST00000552788.1	+	12	3155	c.3155T>C	c.(3154-3156)gTc>gCc	p.V1052A	NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A|NWD1_ENST00000524140.2_Missense_Mutation_p.V1052A|NWD1_ENST00000339803.6_Missense_Mutation_p.V917A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1052							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGTGCCGTCTCAGTCCAG	0.478																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3154-3156)gTc>gCc		NACHT and WD repeat domain containing 1							127.0	102.0	110.0					19																	16902375		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902375T>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3155T>C	19.37:g.16902375T>C	ENSP00000447224:p.Val1052Ala					NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A|NWD1_ENST00000339803.6_Missense_Mutation_p.V917A	p.V1052A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3573	+			1052					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3155T>C		.	.	.	.	.	.	.	.	.	.	T	10.68	1.418409	0.25552	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.65916	1.82;-0.18;1.82;3.82;3.82;3.82	5.34	2.88	0.33553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.340937	0.26532	N	0.023853	T	0.41305	0.1153	N	0.17082	0.46	0.09310	N	1	B;B;B	0.23891	0.0;0.093;0.005	B;B;B	0.21151	0.001;0.033;0.007	T	0.29640	-1.0005	10	0.48119	T	0.1	-27.2766	7.0052	0.24831	0.0:0.2094:0.0:0.7906	.	1052;1052;917	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	A	917;1052;1052;1052;846;1052;917	ENSP00000428579:V1052A;ENSP00000447548:V1052A;ENSP00000369136:V1052A;ENSP00000428955:V846A;ENSP00000447224:V1052A;ENSP00000340159:V917A	ENSP00000340159:V917A	V	+	2	0	NWD1	16763375	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.212000	0.17497	0.868000	0.35678	0.533000	0.62120	GTC		0.478	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	188	0	0	0	1	0	5	188				
XIAP	331	broad.mit.edu	37	X	123019612	123019612	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:123019612G>T	ENST00000371199.3	+	2	399	c.100G>T	c.(100-102)Gct>Tct	p.A34S	XIAP_ENST00000434753.3_Missense_Mutation_p.A34S|XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	34					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAAAACTTTTGCTAATTTTCC	0.378									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(100-102)Gct>Tct		X-linked inhibitor of apoptosis							76.0	78.0	78.0					X																	123019612		2202	4299	6501	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019612G>T	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.100G>T	X.37:g.123019612G>T	ENSP00000360242:p.Ala34Ser					XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000434753.3_Missense_Mutation_p.A34S|XIAP_ENST00000468691.1_Intron	p.A34S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	399	+			34					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.100G>T	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	6.096	0.385944	0.11524	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.81	4.04	0.47022	Baculoviral inhibition of apoptosis protein repeat (5);	0.237430	0.36101	N	0.002796	T	0.54967	0.1891	N	0.04148	-0.265	0.27519	N	0.951453	P	0.49358	0.923	P	0.49799	0.622	T	0.51639	-0.8680	9	.	.	.	-0.3149	11.8175	0.52220	0.1453:0.0:0.8547:0.0	.	34	P98170	XIAP_HUMAN	S	34	ENSP00000395230:A34S;ENSP00000400637:A34S;ENSP00000360242:A34S;ENSP00000347858:A34S	.	A	+	1	0	XIAP	122847293	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.078000	0.30754	0.610000	0.30035	0.508000	0.49915	GCT		0.378	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		49	257	1	0	9.22156e-22	1	9.80397e-22	49	257				
UTRN	7402	broad.mit.edu	37	6	144878380	144878380	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:144878380G>C	ENST00000367545.3	+	49	7222	c.7222G>C	c.(7222-7224)Gat>Cat	p.D2408H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2408					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATATGGGAGTGATGACACAAG	0.438																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7222-7224)Gat>Cat		utrophin							134.0	125.0	128.0					6																	144878380		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144878380G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7222G>C	6.37:g.144878380G>C	ENSP00000356515:p.Asp2408His						p.D2408H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	49	7222	+		Ovarian(120;0.218)	2408					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7222G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591286	0.86851	.	.	ENSG00000152818	ENST00000367545	T	0.35236	1.32	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000083	T	0.54695	0.1874	M	0.65498	2.005	0.80722	D	1	D	0.56746	0.977	D	0.75020	0.985	T	0.50533	-0.8817	10	0.52906	T	0.07	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	2408	P46939	UTRO_HUMAN	H	2408	ENSP00000356515:D2408H	ENSP00000356515:D2408H	D	+	1	0	UTRN	144920073	1.000000	0.71417	0.966000	0.40874	0.791000	0.44710	8.195000	0.89723	2.805000	0.96524	0.655000	0.94253	GAT		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			7	119	0	0	0	1	0	7	119				
HEPHL1	341208	broad.mit.edu	37	11	93754555	93754555	+	Silent	SNP	T	T	A	rs200824399		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:93754555T>A	ENST00000315765.9	+	1	29	c.21T>A	c.(19-21)gcT>gcA	p.A7A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCCAGCTGGCTGCATCT	0.537																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(19-21)gcT>gcA		hephaestin-like 1							106.0	107.0	106.0					11																	93754555		1923	4124	6047	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93754555T>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.21T>A	11.37:g.93754555T>A							p.A7A	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			1	29	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	7					Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.21T>A	CCDS44710.1																																																																																				0.537	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		8	211	0	0	0	1	0	8	211				
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122.0	132.0	129.0					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	474	0	0	0	1	0	5	474				
GMPR	2766	broad.mit.edu	37	6	16290835	16290835	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:16290835A>G	ENST00000259727.4	+	8	954	c.840A>G	c.(838-840)ggA>ggG	p.G280G	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	280					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCACGCAGGAGGAGTTGCTG	0.572																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(838-840)ggA>ggG		guanosine monophosphate reductase							120.0	110.0	113.0					6																	16290835		2203	4300	6503	SO:0001819	synonymous_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16290835A>G		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.840A>G	6.37:g.16290835A>G						GMPR_ENST00000544145.1_3'UTR	p.G280G	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			8	954	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	280					Q96HQ6	Silent	SNP	ENST00000259727.4	37	c.840A>G	CCDS4537.1																																																																																				0.572	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	188	0	0	0	1	0	11	188				
DSC1	1823	broad.mit.edu	37	18	28728468	28728468	+	Silent	SNP	G	G	A	rs138689452		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:28728468G>A	ENST00000257198.5	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	DSC1_ENST00000257197.3_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(763-765)tgC>tgT		desmocollin 1		G	,	2,4404	4.2+/-10.8	0,2,2201	144.0	141.0	142.0		765,765	2.3	0.4	18	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	255/841,255/895	28728468	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28728468G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.765C>T	18.37:g.28728468G>A						DSC1_ENST00000257198.5_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	p.C255C	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		6	1026	-			255			Cadherin 2.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.765C>T	CCDS11894.1																																																																																				0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	237	0	0	0	1	0	4	237				
EMD	2010	broad.mit.edu	37	X	153608070	153608070	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:153608070G>A	ENST00000369842.4	+	2	391	c.103G>A	c.(103-105)Gag>Aag	p.E35K	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	35	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGCTTTACGAGAAGAAGAT	0.697																																						ENST00000369842.4																			0				lung(5)	5						c.(103-105)Gag>Aag		emerin							20.0	24.0	23.0					X																	153608070		2120	4138	6258	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608070G>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.103G>A	X.37:g.153608070G>A	ENSP00000358857:p.Glu35Lys					EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	p.E35K	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			2	391	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		35			LEM.		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.103G>A	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326027	0.60743	.	.	ENSG00000102119	ENST00000369842	T	0.57595	0.39	3.68	3.68	0.42216	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (3);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.73981	-0.3811	10	0.62326	D	0.03	-3.9353	10.6881	0.45854	0.0:0.0:1.0:0.0	.	35	P50402	EMD_HUMAN	K	35	ENSP00000358857:E35K	ENSP00000358857:E35K	E	+	1	0	EMD	153261264	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.508000	0.60441	1.784000	0.52394	0.436000	0.28706	GAG		0.697	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			4	118	0	0	0	1	0	4	118				
SNTB1	6641	broad.mit.edu	37	8	121823847	121823847	+	Silent	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:121823847C>A	ENST00000395601.3	-	2	651	c.237G>T	c.(235-237)gcG>gcT	p.A79A	SNTB1_ENST00000519177.1_5'Flank|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Silent_p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	79	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			gcgcgccgcccgcgcccgggt	0.741																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(235-237)gcG>gcT		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							8.0	9.0	8.0					8																	121823847		2133	4154	6287	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823847C>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.237G>T	8.37:g.121823847C>A						SNTB1_ENST00000517992.1_Silent_p.A79A	p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	651	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		79			PH 1.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.237G>T	CCDS6334.1																																																																																				0.741	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		3	19	1	0	0.115264	1	0.116417	3	19				
PLD5	200150	broad.mit.edu	37	1	242253223	242253223	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:242253223T>A	ENST00000536534.2	-	10	1785	c.1544A>T	c.(1543-1545)aAa>aTa	p.K515I	PLD5_ENST00000442594.2_Missense_Mutation_p.K423I|PLD5_ENST00000427495.1_Missense_Mutation_p.K453I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	515						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGGTTTGAGTTTGAACAGGCT	0.458																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1267-1269)aAa>aTa		phospholipase D family, member 5							236.0	226.0	230.0					1																	242253223		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253223T>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1544A>T	1.37:g.242253223T>A	ENSP00000440896:p.Lys515Ile					PLD5_ENST00000427495.1_Missense_Mutation_p.K453I|PLD5_ENST00000536534.1_Missense_Mutation_p.K515I	p.K423I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1777	-	Melanoma(84;0.242)		515					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1268A>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575058	0.28092	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.47177	0.88;0.87;0.85	4.94	1.28	0.21552	.	1.025900	0.07725	N	0.944384	T	0.37517	0.1006	L	0.34521	1.04	0.27714	N	0.945374	B;B;B	0.22480	0.015;0.07;0.007	B;B;B	0.25759	0.015;0.063;0.004	T	0.37126	-0.9719	10	0.51188	T	0.08	-3.2095	7.6664	0.28434	0.0:0.2578:0.0:0.7422	.	423;515;453	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	I	453;423;515	ENSP00000401285:K453I;ENSP00000414188:K423I;ENSP00000440896:K515I	ENSP00000401285:K453I	K	-	2	0	PLD5	240319846	1.000000	0.71417	0.907000	0.35723	0.713000	0.41058	1.008000	0.29872	0.112000	0.17975	0.533000	0.62120	AAA		0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		18	483	0	0	0	1	0	18	483				
ATRX	546	broad.mit.edu	37	X	76938583	76938583	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76938583G>C	ENST00000373344.5	-	9	2379	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	722					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						CACAGTCTCTGATTGCTTAGA	0.358			"""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.(2164-2166)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						155.0	152.0	153.0					X																	76938583		2203	4296	6499	SO:0001587	stop_gained	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:76938583G>C	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.2165C>G	X.37:g.76938583G>C	ENSP00000362441:p.Ser722*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*	p.S722*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2379	-			722					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2165C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	37	6.386241	0.97524	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.74	4.76	0.60689	.	0.455804	0.20391	N	0.093243	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.0657	12.1756	0.54184	0.1208:0.0:0.8792:0.0	.	.	.	.	X	722;684;649	.	ENSP00000362441:S722X	S	-	2	0	ATRX	76825239	0.971000	0.33674	0.404000	0.26397	0.640000	0.38277	5.297000	0.65704	2.406000	0.81754	0.513000	0.50165	TCA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	788	0	0	0	1	0	31	788				
MSH5	4439	broad.mit.edu	37	6	31726366	31726366	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726366C>T	ENST00000375755.3	+	14	1471	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Silent_p.V412V|MSH5-SAPCD1_ENST00000493662.2_Silent_p.V412V|MSH5_ENST00000375750.3_Silent_p.V395V|MSH5_ENST00000375742.3_Silent_p.V412V|MSH5_ENST00000395853.1_Silent_p.V69V|MSH5_ENST00000375703.3_Silent_p.V395V|MSH5_ENST00000375740.3_Silent_p.V412V|MSH5_ENST00000431848.2_Silent_p.V94V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	395					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GCTTCACAGTCCTCCCCAACA	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1234-1236)gtC>gtT									101.0	83.0	90.0					6																	31726366		1511	2709	4220	SO:0001819	synonymous_variant	0							g.chr6:31726366C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1185C>T	6.37:g.31726366C>T						MSH5_ENST00000395853.1_Silent_p.V69V|MSH5_ENST00000534153.4_Silent_p.V412V|MSH5_ENST00000431848.2_Silent_p.V94V|MSH5_ENST00000375703.3_Silent_p.V395V|MSH5_ENST00000375740.3_Silent_p.V412V|MSH5_ENST00000375742.3_Silent_p.V412V|MSH5_ENST00000375750.3_Silent_p.V395V|MSH5_ENST00000375755.3_Silent_p.V395V	p.V412V							14	1292	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.1236C>T	CCDS4720.1																																																																																				0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			9	116	0	0	0	1	0	9	116				
ELF2	1998	broad.mit.edu	37	4	139980298	139980298	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:139980298C>T	ENST00000394235.2	-	10	2087	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T|ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCTTTTTTGCCACTGCTTCC	0.468																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1585-1587)Gca>Aca		E74-like factor 2 (ets domain transcription factor)							193.0	198.0	196.0					4																	139980298		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139980298C>T	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1585G>A	4.37:g.139980298C>T	ENSP00000377782:p.Ala529Thr					ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T|ELF2_ENST00000515489.1_Intron	p.A529T	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			10	2087	-	all_hematologic(180;0.162)		541						Missense_Mutation	SNP	ENST00000394235.2	37	c.1585G>A	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178243	0.21787	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.12147	2.71;2.91;2.9;2.91;2.9;2.72	5.15	3.29	0.37713	.	0.460618	0.23770	N	0.044724	T	0.09024	0.0223	N	0.19112	0.55	0.27718	N	0.945218	B;P;B;B;B	0.37370	0.009;0.592;0.1;0.001;0.137	B;B;B;B;B	0.37601	0.009;0.254;0.036;0.001;0.109	T	0.18999	-1.0319	9	.	.	.	.	10.4923	0.44758	0.0:0.8307:0.0:0.1693	.	344;529;452;469;481	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	T	481;529;541;529;452;344;469	ENSP00000351458:A481T;ENSP00000377782:A529T;ENSP00000368868:A541T;ENSP00000265495:A529T;ENSP00000368867:A452T;ENSP00000426997:A469T	.	A	-	1	0	ELF2	140199748	0.926000	0.31397	0.993000	0.49108	0.952000	0.60782	2.191000	0.42640	0.478000	0.27488	0.644000	0.83932	GCA		0.468	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		5	533	0	0	0	1	0	5	533				
BIRC3	330	broad.mit.edu	37	11	102206866	102206866	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:102206866G>A	ENST00000263464.3	+	7	4244	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	BIRC3_ENST00000532808.1_Silent_p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	498	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATTGATACGATTTTAGTAA	0.348			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(1492-1494)acG>acA		baculoviral IAP repeat containing 3							107.0	111.0	110.0					11																	102206866		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102206866G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1494G>A	11.37:g.102206866G>A						BIRC3_ENST00000532808.1_Silent_p.T498T	p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	4244	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	498			CARD.		Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.1494G>A	CCDS8315.1																																																																																				0.348	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		18	307	0	0	0	1	0	18	307				
CUL2	8453	broad.mit.edu	37	10	35324207	35324207	+	Missense_Mutation	SNP	C	C	T	rs369928960	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:35324207C>T	ENST00000374748.1	-	11	1208	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	CUL2_ENST00000374749.3_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I|CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I			Q13617	CUL2_HUMAN	cullin 2	299					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CGGAGTAAGACGTACATATTT	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.002					ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(895-897)Gtc>Atc		cullin 2		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	153.0	127.0	136.0		895,952,934,895	3.5	1.0	10		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CUL2	NM_001198777.1,NM_001198778.1,NM_001198779.1,NM_003591.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	299/746,318/765,312/759,299/746	35324207	1,13005	2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35324207C>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.895G>A	10.37:g.35324207C>T	ENSP00000363880:p.Val299Ile					CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I|CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374749.3_Missense_Mutation_p.V299I	p.V299I			Q13617	CUL2_HUMAN			11	1208	-			299					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.895G>A	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530470	0.45073	0.0	1.16E-4	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.73	3.5	0.40072	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.145899	0.64402	N	0.000010	T	0.09335	0.0230	N	0.01352	-0.895	0.32756	N	0.505772	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.04796	-1.0926	10	0.34782	T	0.22	-13.1666	4.7157	0.12894	0.0:0.5924:0.0:0.4076	.	299;318;299	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	I	299;299;299;299;242;299;318	ENSP00000363883:V299I;ENSP00000363880:V299I;ENSP00000363878:V299I;ENSP00000363881:V299I;ENSP00000363874:V299I;ENSP00000444856:V318I	ENSP00000363874:V299I	V	-	1	0	CUL2	35364213	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	5.094000	0.64523	1.547000	0.49401	0.655000	0.94253	GTC		0.428	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		54	104	0	0	0	1	0	54	104				
KLHL34	257240	broad.mit.edu	37	X	21675338	21675338	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:21675338C>T	ENST00000379499.2	-	1	1110	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	190	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTCGGGCACCCGCGCCACGTC	0.697																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(568-570)cGg>cAg		kelch-like family member 34							7.0	7.0	7.0					X																	21675338		2046	4027	6073	SO:0001583	missense	257240							g.chrX:21675338C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.569G>A	X.37:g.21675338C>T	ENSP00000368813:p.Arg190Gln						p.R190Q	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1110	-			190			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.569G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	4.424	0.078443	0.08533	.	.	ENSG00000185915	ENST00000379499	T	0.68479	-0.33	4.49	-0.618	0.11576	BTB/Kelch-associated (2);	0.568928	0.16583	N	0.208135	T	0.49440	0.1557	L	0.50333	1.59	0.09310	N	1	D	0.55800	0.973	B	0.39339	0.297	T	0.45352	-0.9267	10	0.28530	T	0.3	.	4.7806	0.13201	0.218:0.4148:0.0:0.3673	.	190	Q8N239	KLH34_HUMAN	Q	190	ENSP00000368813:R190Q	ENSP00000368813:R190Q	R	-	2	0	KLHL34	21585259	0.017000	0.18338	0.065000	0.19835	0.226000	0.24999	1.390000	0.34464	0.056000	0.16144	-0.444000	0.05651	CGG		0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		11	9	0	0	0	1	0	11	9				
ITGA8	8516	broad.mit.edu	37	10	15573098	15573098	+	Missense_Mutation	SNP	T	T	A	rs539209602		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:15573098T>A	ENST00000378076.3	-	28	3286	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	978					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAAGGCATCTTCTTAACTTC	0.294																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2932-2934)aAg>aTg		integrin, alpha 8							102.0	103.0	103.0					10																	15573098		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573098T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2933A>T	10.37:g.15573098T>A	ENSP00000367316:p.Lys978Met						p.K978M	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			28	3286	-			978					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2933A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817890	0.71028	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	3.27	0.37495	.	0.370723	0.34507	N	0.003904	T	0.57799	0.2078	M	0.66939	2.045	0.36464	D	0.866859	D;D	0.61080	0.989;0.981	P;P	0.59288	0.855;0.72	T	0.62840	-0.6769	10	0.51188	T	0.08	.	8.3963	0.32559	0.0:0.0694:0.1323:0.7983	.	963;978	F5H818;P53708	.;ITA8_HUMAN	M	978;963	ENSP00000367316:K978M	ENSP00000367316:K978M	K	-	2	0	ITGA8	15613104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.635000	0.37134	0.397000	0.25310	0.523000	0.50628	AAG		0.294	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		5	254	0	0	0	1	0	5	254				
TTN	7273	broad.mit.edu	37	2	179484780	179484780	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:179484780T>C	ENST00000591111.1	-	199	41665	c.41441A>G	c.(41440-41442)gAt>gGt	p.D13814G	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15455G|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G			Q8WZ42	TITIN_HUMAN	titin	13814	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTCATCATCCAGCCTGCA	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46363-46365)gAt>gGt		titin							132.0	122.0	125.0					2																	179484780		1856	4122	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484780T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41441A>G	2.37:g.179484780T>C	ENSP00000465570:p.Asp13814Gly					TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13814G|TTN-AS1_ENST00000590807.1_RNA	p.D15455G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	46588	-			13814			Fibronectin type-III 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46364A>G		.	.	.	.	.	.	.	.	.	.	T	14.23	2.474029	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81931	0.4927	M	0.62723	1.935	0.50813	D	0.999896	B;B;P;P	0.38745	0.334;0.334;0.645;0.581	B;B;B;P	0.46825	0.332;0.332;0.332;0.528	D	0.83688	0.0175	9	0.87932	D	0	.	16.3349	0.83056	0.0:0.0:0.0:1.0	.	6390;6515;6582;13814	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12887;6390;6582;6515;6390	ENSP00000343764:D12887G;ENSP00000434586:D6390G;ENSP00000340554:D6582G;ENSP00000352154:D6515G	ENSP00000340554:D6582G	D	-	2	0	TTN	179193025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.937000	0.87672	2.324000	0.78689	0.533000	0.62120	GAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	131	0	0	0	1	0	5	131				
HYI	81888	broad.mit.edu	37	1	43916044	43916044	+	IGR	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:43916044C>G	ENST00000372425.4	-	0	1115				SZT2_ENST00000372442.1_Missense_Mutation_p.Q2499E|SZT2_ENST00000562955.1_Missense_Mutation_p.Q3341E|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTCCCAGTACAGCCCCAGGA	0.622																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(10021-10023)Cag>Gag		seizure threshold 2 homolog (mouse)							177.0	169.0	172.0					1																	43916044		2203	4300	6503	SO:0001628	intergenic_variant	23334					peroxisome		g.chr1:43916044C>G		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43916044C>G						SZT2_ENST00000372442.1_Missense_Mutation_p.Q2499E	p.Q3341E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			71	10021	+			3398					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.10021C>G	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433486	0.62955	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.054865	0.85682	D	0.000000	T	0.62356	0.2421	L	0.40543	1.245	0.31442	N	0.671828	D;D	0.63880	0.984;0.993	P;P	0.57720	0.801;0.826	T	0.62595	-0.6821	9	0.41790	T	0.15	.	20.0309	0.97536	0.0:1.0:0.0:0.0	.	3398;3341	Q5T011;Q5T011-5	SZT2_HUMAN;.	E	2499	.	ENSP00000361519:Q2499E	Q	+	1	0	SZT2	43688631	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	7.350000	0.79385	2.734000	0.93682	0.555000	0.69702	CAG		0.622	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		73	152	0	0	0	1	0	73	152				
BPTF	2186	broad.mit.edu	37	17	65899908	65899908	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:65899908A>G	ENST00000321892.4	+	10	2986	c.2925A>G	c.(2923-2925)ttA>ttG	p.L975L	BPTF_ENST00000424123.3_Silent_p.L836L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000306378.6_Silent_p.L849L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	975					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTTAGGTTACACCGGATGA	0.333																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2923-2925)ttA>ttG		bromodomain PHD finger transcription factor							39.0	42.0	41.0					17																	65899908		2202	4298	6500	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899908A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2925A>G	17.37:g.65899908A>G						BPTF_ENST00000306378.6_Silent_p.L849L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000424123.3_Silent_p.L836L	p.L975L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	2986	+	all_cancers(12;6e-11)		975					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2925A>G																																																																																					0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	108	0	0	0	1	0	7	108				
SCAF11	9169	broad.mit.edu	37	12	46316743	46316743	+	Silent	SNP	G	G	A	rs201238940		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr12:46316743G>A	ENST00000369367.3	-	13	4334	c.4101C>T	c.(4099-4101)agC>agT	p.S1367S	SCAF11_ENST00000465950.1_Silent_p.S1052S|SCAF11_ENST00000419565.2_Silent_p.S1367S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Silent_p.S1175S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1367					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGCTATCTGCGCTGGCTTCCA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18882	0.001		0.0	False		,,,				2504	0.0					ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(3154-3156)agC>agT		SR-related CTD-associated factor 11							196.0	188.0	191.0					12																	46316743		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316743G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4101C>T	12.37:g.46316743G>A						SCAF11_ENST00000419565.2_Silent_p.S1367S|SCAF11_ENST00000549162.1_Silent_p.S1175S|SCAF11_ENST00000369367.3_Silent_p.S1367S|SCAF11_ENST00000550629.1_5'UTR	p.S1052S			Q99590	SCAFB_HUMAN			3	4365	-			1367					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.3156C>T	CCDS8748.2																																																																																				0.398	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	491	0	0	0	1	0	6	491				
NR2E1	7101	broad.mit.edu	37	6	108492765	108492765	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:108492765C>T	ENST00000368986.4	+	2	837	c.129C>T	c.(127-129)agC>agT	p.S43S	NR2E1_ENST00000368983.3_Silent_p.S80S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	43					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCAAACGGAGCATCCGAAGGA	0.557																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(127-129)agC>agT		nuclear receptor subfamily 2, group E, member 1							112.0	124.0	120.0					6																	108492765		2203	4300	6503	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492765C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.129C>T	6.37:g.108492765C>T						NR2E1_ENST00000368983.3_Silent_p.S80S	p.S43S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	837	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	43					Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.129C>T	CCDS5063.1																																																																																				0.557	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			13	335	0	0	0	1	0	13	335				
MS4A6A	64231	broad.mit.edu	37	11	59949056	59949056	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:59949056C>A	ENST00000530839.1	-	3	637	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W|MS4A6A_ENST00000528851.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGATTTACCCCAATAACTTTG	0.478																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(145-147)Ggg>Tgg		membrane-spanning 4-domains, subfamily A, member 6A							155.0	148.0	150.0					11																	59949056		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59949056C>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.145G>T	11.37:g.59949056C>A	ENSP00000436979:p.Gly49Trp					MS4A6A_ENST00000530839.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W	p.G49W			Q9H2W1	M4A6A_HUMAN			2	285	-			49					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.145G>T	CCDS7981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.156783|3.156783	0.57259|0.57259	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531|ENST00000533989	T;T;T;T;T;T;T;T;T;T;T|.	0.52526|.	2.95;2.95;2.95;2.95;2.95;2.88;2.95;1.71;2.95;1.72;0.66|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.403026|.	0.24628|.	N|.	0.036909|.	T|T	0.72495|0.72495	0.3467|0.3467	M|M	0.89658|0.89658	3.05|3.05	0.21897|0.21897	N|N	0.99948|0.99948	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999;0.999|.	T|T	0.67177|0.67177	-0.5736|-0.5736	9|5	.|.	.|.	.|.	.|.	13.0353|13.0353	0.58867|0.58867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	49;77;77;49;49|.	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3|.	.;.;.;M4A6A_HUMAN;.|.	W|F	49;49;49;49;77;49;77;49;49;77;77|28	ENSP00000315878:G49W;ENSP00000431901:G49W;ENSP00000392921:G49W;ENSP00000436979:G49W;ENSP00000435844:G77W;ENSP00000392770:G49W;ENSP00000403212:G77W;ENSP00000436172:G49W;ENSP00000431266:G49W;ENSP00000433436:G77W;ENSP00000433012:G77W|.	.|.	G|L	-|-	1|3	0|2	MS4A6A|MS4A6A	59705632|59705632	0.984000|0.984000	0.35163|0.35163	0.909000|0.909000	0.35828|0.35828	0.479000|0.479000	0.33129|0.33129	3.178000|3.178000	0.50879|0.50879	2.439000|2.439000	0.82584|0.82584	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.478	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			5	233	1	0	0.000602214	1	0.00061438	5	233				
BCLAF1	9774	broad.mit.edu	37	6	136596819	136596819	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:136596819T>C	ENST00000531224.1	-	6	1955	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	568					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D568G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCAGCCTGTCTTTAGTCAA	0.388																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.D568G(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1702-1704)gAc>gGc		BCL2-associated transcription factor 1							137.0	128.0	131.0					6																	136596819		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596819T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1703A>G	6.37:g.136596819T>C	ENSP00000435210:p.Asp568Gly					BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G	p.D568G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	1955	-	Colorectal(23;0.24)		568					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1703A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699553	0.68501	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.24547	0.0595	L	0.40543	1.245	0.80722	D	1	P;D;P;D	0.64830	0.947;0.971;0.947;0.994	P;P;P;D	0.70487	0.908;0.85;0.908;0.969	T	0.01800	-1.1271	10	0.87932	D	0	-9.3608	16.0973	0.81135	0.0:0.0:0.0:1.0	.	566;566;568;395	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	G	568;566;568;395;566;566;568	ENSP00000435210:D568G;ENSP00000229446:D566G;ENSP00000435441:D568G;ENSP00000436501:D395G;ENSP00000434826:D566G;ENSP00000376159:D566G;ENSP00000431734:D568G	ENSP00000229446:D566G	D	-	2	0	BCLAF1	136638512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.826000	0.75298	2.263000	0.75096	0.377000	0.23210	GAC		0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		21	305	0	0	0	1	0	21	305				
TRAV19	28664	broad.mit.edu	37	14	22476212	22476212	+	RNA	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:22476212C>T	ENST00000390447.3	+	0	259									T cell receptor alpha variable 19																		GTATGAAACCCGTGATACTAC	0.418																																						ENST00000390447.3																			0																				71.0	69.0	70.0					14																	22476212		1914	4117	6031			0							g.chr14:22476212C>T	AE000660		14q11.2	2012-02-07			ENSG00000211799	ENSG00000211799		"""T cell receptors / TRA locus"""	12115	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV12S1, TCRAV19S1			OTTHUMG00000170645		14.37:g.22476212C>T														0	259	+									RNA	SNP	ENST00000390447.3	37																																																																																						0.418	TRAV19-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409893.1	NG_001332		3	41	0	0	0	1	0	3	41				
C5AR1	728	broad.mit.edu	37	19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A	rs201394213		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:47823729G>A	ENST00000355085.3	+	2	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	232					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(694-696)cGc>cAc		complement component 5a receptor 1		G	HIS/ARG	0,4406		0,0,2203	91.0	88.0	89.0		695	4.8	1.0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5AR1	NM_001736.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	232/351	47823729	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823729G>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.695G>A	19.37:g.47823729G>A	ENSP00000347197:p.Arg232His						p.R232H	NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	717	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	232						Missense_Mutation	SNP	ENST00000355085.3	37	c.695G>A	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.881187	0.91740	0.0	1.16E-4	ENSG00000197405	ENST00000355085	T	0.38560	1.13	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.459330	0.21120	U	0.079828	T	0.57359	0.2048	M	0.81179	2.53	0.52099	D	0.999945	D	0.61080	0.989	P	0.52066	0.689	T	0.63470	-0.6630	10	0.51188	T	0.08	.	14.8986	0.70661	0.0:0.0:1.0:0.0	.	232	P21730	C5AR_HUMAN	H	232	ENSP00000347197:R232H	ENSP00000347197:R232H	R	+	2	0	C5AR1	52515569	0.000000	0.05858	0.976000	0.42696	0.893000	0.52053	0.899000	0.28417	2.221000	0.72209	0.472000	0.43445	CGC		0.597	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		4	198	0	0	0	1	0	4	198				
PARP2	10038	broad.mit.edu	37	14	20825295	20825295	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:20825295T>C	ENST00000250416.5	+	14	1481	c.1454T>C	c.(1453-1455)cTg>cCg	p.L485P	PARP2_ENST00000429687.3_Missense_Mutation_p.L472P|PARP2_ENST00000527915.1_Missense_Mutation_p.L485P	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	485	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ACAGGACTGCTGCTCTTATCA	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1453-1455)cTg>cCg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							103.0	91.0	95.0					14																	20825295		1900	4128	6028	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825295T>C	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1454T>C	14.37:g.20825295T>C	ENSP00000250416:p.Leu485Pro					PARP2_ENST00000250416.5_Missense_Mutation_p.L485P|PARP2_ENST00000429687.3_Missense_Mutation_p.L472P	p.L485P			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	14	1459	+	all_cancers(95;0.00092)	all_lung(585;0.235)	485			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1454T>C	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762940	0.69763	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.17691	2.26;2.26;2.26	5.5	5.5	0.81552	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000003	T	0.52805	0.1757	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.65627	-0.6122	10	0.87932	D	0	-10.4336	14.7364	0.69419	0.0:0.0:0.0:1.0	.	398;472;485	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	P	472;485;485	ENSP00000392972:L472P;ENSP00000250416:L485P;ENSP00000432283:L485P	ENSP00000250416:L485P	L	+	2	0	PARP2	19895135	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.904000	0.75708	2.302000	0.77476	0.533000	0.62120	CTG		0.403	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			5	120	0	0	0	1	0	5	120				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	142	0	0	0	1	0	4	142				
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(400-402)Gaa>Caa		histone cluster 1, H3b							58.0	61.0	60.0					6																	26031889		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031889C>G	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>C	6.37:g.26031889C>G	ENSP00000244661:p.Glu134Gln						p.E134Q	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	399	-			134					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.400G>C	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646170	0.47258	.	.	ENSG00000124693	ENST00000244661	T	0.48201	0.82	5.17	5.17	0.71159	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.41871	D	0.990276	.	.	.	.	.	.	T	0.65647	-0.6117	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	Q	134	ENSP00000244661:E134Q	ENSP00000244661:E134Q	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		8	142	0	0	0	1	0	8	142				
PAGR1	79447	broad.mit.edu	37	16	29827954	29827954	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr16:29827954C>T	ENST00000320330.6	+	1	670	c.108C>T	c.(106-108)acC>acT	p.T36T	AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Silent_p.T36T			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	36						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											TGGAGGATACCGGAGGCCCCT	0.706											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320330.6																			0											c.(106-108)acC>acT		PAXIP1 associated glutamate-rich protein 1							6.0	8.0	7.0					16																	29827954		2115	4195	6310	SO:0001819	synonymous_variant	79447							g.chr16:29827954C>T	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.108C>T	16.37:g.29827954C>T			OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AC009133.20_ENST00000569039.1_RNA	p.T36T	NM_024516.3	NP_078792.1					1	670	+								A2ICR6	Silent	SNP	ENST00000320330.6	37	c.108C>T	CCDS10655.1																																																																																				0.706	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		17	25	0	0	0	1	0	17	25				
CCDC39	339829	broad.mit.edu	37	3	180372584	180372584	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:180372584T>C	ENST00000442201.2	-	7	1015	c.896A>G	c.(895-897)gAc>gGc	p.D299G	CCDC39_ENST00000273654.4_Missense_Mutation_p.D383G	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	299					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTCATGGTCCTGATATGC	0.348																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1147-1149)gAc>gGc		coiled-coil domain containing 39							137.0	116.0	123.0					3																	180372584		1826	4090	5916	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372584T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.896A>G	3.37:g.180372584T>C	ENSP00000405708:p.Asp299Gly					CCDC39_ENST00000442201.2_Missense_Mutation_p.D299G	p.D383G			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1767	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		299					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1148A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	9.010	0.982238	0.18889	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.78246	-1.16;-1.16	5.5	-1.11	0.09840	.	1.494650	0.03597	N	0.232687	T	0.65626	0.2709	L	0.29908	0.895	0.09310	N	1	B	0.21309	0.054	B	0.23574	0.047	T	0.45101	-0.9284	10	0.26408	T	0.33	4.4298	5.7132	0.17946	0.0:0.3381:0.2537:0.4082	.	299	Q9UFE4	CCD39_HUMAN	G	383;299	ENSP00000273654:D383G;ENSP00000405708:D299G	ENSP00000273654:D383G	D	-	2	0	CCDC39	181855278	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.131000	0.10482	-0.346000	0.08312	0.460000	0.39030	GAC		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		5	69	0	0	0	1	0	5	69				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	13	0	0	0	1	0	4	13				
TRBV6-7	28600	broad.mit.edu	37	7	142144060	142144060	+	RNA	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:142144060C>T	ENST00000390373.2	-	0	24									T cell receptor beta variable 6-7 (non-functional)																		GAAAAGGCCACACAGCACAGG	0.602																																						ENST00000390373.2																			0																																																			0							g.chr7:142144060C>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142144060C>T														0	24	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.602	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		10	315	0	0	0	1	0	10	315				
GPR101	83550	broad.mit.edu	37	X	136113495	136113495	+	Silent	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:136113495C>G	ENST00000298110.1	-	1	338	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGAAGGCGAACAGGTGGGTGA	0.612																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(337-339)ctG>ctC		G protein-coupled receptor 101							77.0	57.0	64.0					X																	136113495		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113495C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.339G>C	X.37:g.136113495C>G							p.L113L	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	338	-	Acute lymphoblastic leukemia(192;0.000127)		113					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.339G>C	CCDS14662.1																																																																																				0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			7	59	0	0	0	1	0	7	59				
NRF1	4899	broad.mit.edu	37	7	129357111	129357111	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:129357111C>T	ENST00000393232.1	+	9	1235	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M|NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	373	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCCAGACGACGCAAGCATCA	0.537																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1117-1119)aCg>aTg		nuclear respiratory factor 1							80.0	76.0	77.0					7																	129357111		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357111C>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1118C>T	7.37:g.129357111C>T	ENSP00000376924:p.Thr373Met					NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M|NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M	p.T373M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			9	1235	+			373			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1118C>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216247	0.79352	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.22421	0.69	0.80722	D	1	P;B	0.36660	0.564;0.173	B;B	0.26517	0.07;0.036	T	0.21449	-1.0245	9	0.31617	T	0.26	-0.3763	18.4942	0.90858	0.0:1.0:0.0:0.0	.	373;373	Q96AN2;Q16656	.;NRF1_HUMAN	M	373;307;212;373;373;373;373	.	ENSP00000223190:T373M	T	+	2	0	NRF1	129144347	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.484000	0.81180	2.617000	0.88574	0.650000	0.86243	ACG		0.537	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		7	117	0	0	0	1	0	7	117				
BAK1	578	broad.mit.edu	37	6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	rs1051911		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000360661.5_Missense_Mutation_p.R42H|BAK1_ENST00000442998.2_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(124-126)cGc>cAc		BCL2-antagonist/killer 1							89.0	80.0	83.0					6																	33543651		2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543651C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.125G>A	6.37:g.33543651C>T	ENSP00000363591:p.Arg42His					BAK1_ENST00000360661.5_Missense_Mutation_p.R42H|BAK1_ENST00000442998.2_Missense_Mutation_p.R42H	p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			3	373	-			42		R -> H (in dbSNP:rs1051911).			C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.125G>A	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747074	0.69418	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.05199	3.48;3.48;3.48	3.83	2.92	0.33932	.	0.614391	0.15450	N	0.261712	T	0.09512	0.0234	L	0.55481	1.735	0.34011	D	0.651427	D;D	0.89917	1.0;1.0	D;D	0.70716	0.938;0.97	T	0.04153	-1.0973	10	0.66056	D	0.02	-10.8213	9.6727	0.40021	0.2178:0.7822:0.0:0.0	rs1051911;rs3173268	42;42	B4E0L2;Q16611	.;BAK_HUMAN	H	42	ENSP00000363591:R42H;ENSP00000391258:R42H;ENSP00000353878:R42H	ENSP00000353878:R42H	R	-	2	0	BAK1	33651629	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	3.384000	0.52478	0.912000	0.36772	0.456000	0.33151	CGC		0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		62	108	0	0	0	1	0	62	108				
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567																																						ENST00000379471.2																			1	Substitution - Missense(1)	p.R955H(1)	lung(1)	endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2863-2865)cGc>cAc		nucleolar protein 6 (RNA-associated)							148.0	131.0	137.0					9																	33464075		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464075C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2864G>A	9.37:g.33464075C>T	ENSP00000368784:p.Arg955His					NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron	p.R955H			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2951	-			955					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2864G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687040	0.29962	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.65	4.76	0.60689	.	0.144743	0.56097	D	0.000022	T	0.35393	0.0930	L	0.58101	1.795	0.39089	D	0.961056	B;B;B;B	0.25486	0.127;0.044;0.104;0.054	B;B;B;B	0.23018	0.028;0.017;0.023;0.043	T	0.24977	-1.0145	10	0.29301	T	0.29	.	7.4292	0.27118	0.0:0.7211:0.0:0.2789	.	903;952;955;955	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	H	9;955;955;511;955;903	ENSP00000368783:R9H;ENSP00000297990:R955H;ENSP00000368784:R955H;ENSP00000395915:R903H	ENSP00000297990:R955H	R	-	2	0	NOL6	33454075	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	3.448000	0.52943	1.534000	0.49203	0.655000	0.94253	CGC		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		6	293	0	0	0	1	0	6	293				
SERPINC1	462	broad.mit.edu	37	1	173883867	173883867	+	Missense_Mutation	SNP	G	G	A	rs199469507|rs374205395		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:173883867G>A	ENST00000367698.3	-	2	350	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	78					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGACACGCCGGTTGGTGGCC	0.527											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CD961789	SERPINC1	D		c.(232-234)Cgg>Tgg		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	G	TRP/ARG	0,4406		0,0,2203	129.0	129.0	129.0		232	5.7	1.0	1		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINC1	NM_000488.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	78/465	173883867	1,13005	2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883867G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.232C>T	1.37:g.173883867G>A	ENSP00000356671:p.Arg78Trp		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911	SERPINC1_ENST00000494024.1_5'UTR	p.R78W	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			2	350	-			78					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.232C>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015378	0.93404	0.0	1.16E-4	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82803	-1.65	5.67	5.67	0.87782	Serpin domain (1);	0.064498	0.64402	D	0.000010	T	0.80363	0.4609	L	0.57536	1.79	0.54753	D	0.999989	D	0.61080	0.989	P	0.45119	0.47	T	0.83109	-0.0124	10	0.66056	D	0.02	.	19.7629	0.96329	0.0:0.0:1.0:0.0	.	78	P01008	ANT3_HUMAN	W	78	ENSP00000356671:R78W	ENSP00000307953:R78W	R	-	1	2	SERPINC1	172150490	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.608000	0.82898	2.666000	0.90696	0.561000	0.74099	CGG		0.527	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		14	316	0	0	0	1	0	14	316				
SIRT3	23410	broad.mit.edu	37	11	236177	236177	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:236177C>G	ENST00000382743.4	-	1	254	c.152G>C	c.(151-153)aGa>aCa	p.R51T	SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|PSMD13_ENST00000532097.1_5'Flank|PSMD13_ENST00000431206.2_5'Flank|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000528702.1_Intron|PSMD13_ENST00000352303.5_5'Flank|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	51					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGGCTGCCTCTCAGCCCCGC	0.726																																						ENST00000382743.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(151-153)aGa>aCa		sirtuin 3							8.0	11.0	10.0					11																	236177		2121	4180	6301	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:236177C>G	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.152G>C	11.37:g.236177C>G	ENSP00000372191:p.Arg51Thr					SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000525319.1_Intron	p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	1	254	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	51					B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.152G>C	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649813	0.29336	.	.	ENSG00000142082	ENST00000382743;ENST00000524564;ENST00000532956	T;T;T	0.23147	2.0;1.94;1.92	2.72	1.72	0.24424	.	9.097740	0.01207	U	0.007730	T	0.15782	0.0380	N	0.08118	0	0.18873	N	0.999987	B;B;B;B	0.17465	0.022;0.006;0.006;0.006	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.20505	-1.0273	10	0.40728	T	0.16	.	7.6929	0.28577	0.0:0.6362:0.3638:0.0	.	51;51;51;51	E9PM75;B7Z7G4;E9PN58;Q9NTG7	.;.;.;SIRT3_HUMAN	T	51	ENSP00000372191:R51T;ENSP00000432937:R51T;ENSP00000433077:R51T	ENSP00000372191:R51T	R	-	2	0	SIRT3	226177	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.243000	0.18106	0.425000	0.26087	0.455000	0.32223	AGA		0.726	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			4	7	0	0	0	1	0	4	7				
FCGBP	8857	broad.mit.edu	37	19	40366460	40366460	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:40366460C>T	ENST00000221347.6	-	30	13781	c.13774G>A	c.(13774-13776)Gat>Aat	p.D4592N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4592	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGTCCCCATCGAAAGCCAGC	0.657																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13774-13776)Gat>Aat		Fc fragment of IgG binding protein							31.0	36.0	34.0					19																	40366460		2200	4296	6496	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366460C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13774G>A	19.37:g.40366460C>T	ENSP00000221347:p.Asp4592Asn						p.D4592N	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13781	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4592			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13774G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761288	0.31137	.	.	ENSG00000090920	ENST00000221347	T	0.60171	0.21	4.12	4.12	0.48240	von Willebrand factor, type D domain (3);	0.000000	0.85682	U	0.000000	T	0.60248	0.2254	L	0.52573	1.65	0.32280	N	0.567724	D	0.57571	0.98	P	0.51415	0.669	T	0.65742	-0.6094	10	0.26408	T	0.33	.	15.6318	0.76917	0.0:1.0:0.0:0.0	.	4592	Q9Y6R7	FCGBP_HUMAN	N	4592	ENSP00000221347:D4592N	ENSP00000221347:D4592N	D	-	1	0	FCGBP	45058300	0.210000	0.23517	0.730000	0.30809	0.092000	0.18411	0.694000	0.25512	2.289000	0.77006	0.305000	0.20034	GAT		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	190	0	0	0	1	0	5	190				
FLI1	2313	broad.mit.edu	37	11	128642720	128642720	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:128642720G>C	ENST00000527786.2	+	4	918	c.429G>C	c.(427-429)gaG>gaC	p.E143D	FLI1_ENST00000281428.8_Missense_Mutation_p.E77D|FLI1_ENST00000534087.2_Missense_Mutation_p.E110D|FLI1_ENST00000344954.6_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	143	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(328-330)gaG>gaC		Fli-1 proto-oncogene, ETS transcription factor							190.0	194.0	193.0					11																	128642720		2113	4241	6354	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642720G>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.429G>C	11.37:g.128642720G>C	ENSP00000433488:p.Glu143Asp					FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.E143D|FLI1_ENST00000534087.1_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D	p.E110D			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	718	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	143					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.330G>C	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608503	0.28623	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.55	2.67	0.31697	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.154798	0.56097	D	0.000024	T	0.14527	0.0351	N	0.10733	0.035	0.41332	D	0.987249	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.07121	-1.0789	10	0.25751	T	0.34	.	10.2399	0.43305	0.227:0.0:0.773:0.0	.	143;77	Q01543;Q01543-2	FLI1_HUMAN;.	D	110;143;110;77	ENSP00000339627:E110D;ENSP00000399985:E143D;ENSP00000432950:E110D;ENSP00000281428:E77D	ENSP00000281428:E77D	E	+	3	2	FLI1	128147930	0.993000	0.37304	1.000000	0.80357	0.974000	0.67602	0.235000	0.17948	0.883000	0.36040	-0.343000	0.07986	GAG		0.512	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		15	350	0	0	0	1	0	15	350				
GOLPH3	64083	broad.mit.edu	37	5	32126618	32126618	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr5:32126618C>G	ENST00000265070.6	-	4	912	c.597G>C	c.(595-597)atG>atC	p.M199I	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	199	Beta-hairpin required for oligomerization. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATGTGTTGTCATGTCAAAAA	0.428																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(595-597)atG>atC		golgi phosphoprotein 3 (coat-protein)							229.0	218.0	222.0					5																	32126618		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126618C>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.597G>C	5.37:g.32126618C>G	ENSP00000265070:p.Met199Ile						p.M199I	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	912	-			199					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.597G>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095970	0.56075	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.108661	0.85682	D	0.000000	T	0.78735	0.4330	M	0.89478	3.035	0.80722	D	1	B	0.17038	0.02	B	0.17433	0.018	T	0.74472	-0.3654	9	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	199	Q9H4A6	GOLP3_HUMAN	I	199;182	.	ENSP00000265070:M199I	M	-	3	0	GOLPH3	32162375	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.440000	0.80464	2.937000	0.99478	0.650000	0.86243	ATG		0.428	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		16	423	0	0	0	1	0	16	423				
TRGV2	6974	broad.mit.edu	37	7	38402925	38402925	+	RNA	SNP	T	T	C	rs566882501	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:38402925T>C	ENST00000426402.2	-	0	194									T cell receptor gamma variable 2																		TAGGGCCCACTGCATGCCTTC	0.507													T|||	3	0.000599042	0.0015	0.0	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000426402.2																			0																				81.0	79.0	79.0					7																	38402925		1899	4114	6013			0							g.chr7:38402925T>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402925T>C														0	194	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.507	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		4	111	0	0	0	1	0	4	111				
TPX2	22974	broad.mit.edu	37	20	30363725	30363725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:30363725C>T	ENST00000300403.6	+	8	1192	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q222*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	222					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TATGAAAATGCAGCAAGAGGT	0.433																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(664-666)Cag>Tag		TPX2, microtubule-associated							119.0	120.0	119.0					20																	30363725		2203	4300	6503	SO:0001587	stop_gained	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363725C>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.664C>T	20.37:g.30363725C>T	ENSP00000300403:p.Gln222*					TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q222*	p.Q222*			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1192	+			222					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	c.664C>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	41	9.036462	0.99044	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-21.3279	18.3306	0.90267	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000300403:Q222X	Q	+	1	0	TPX2	29827386	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.181000	0.71988	2.882000	0.98803	0.655000	0.94253	CAG		0.433	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			5	146	0	0	0	1	0	5	146				
MSH5	4439	broad.mit.edu	37	6	31726367	31726367	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726367C>T	ENST00000375755.3	+	14	1472	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.L413F|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.L413F|MSH5_ENST00000375750.3_Missense_Mutation_p.L396F|MSH5_ENST00000375742.3_Missense_Mutation_p.L413F|MSH5_ENST00000395853.1_Missense_Mutation_p.L70F|MSH5_ENST00000375703.3_Missense_Mutation_p.L396F|MSH5_ENST00000375740.3_Missense_Mutation_p.L413F|MSH5_ENST00000431848.2_Missense_Mutation_p.L95F	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	396					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTCACAGTCCTCCCCAACAT	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1237-1239)Ctc>Ttc									100.0	83.0	89.0					6																	31726367		1511	2709	4220	SO:0001583	missense	0							g.chr6:31726367C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1186C>T	6.37:g.31726367C>T	ENSP00000364908:p.Leu396Phe					MSH5_ENST00000395853.1_Missense_Mutation_p.L70F|MSH5_ENST00000534153.4_Missense_Mutation_p.L413F|MSH5_ENST00000431848.2_Missense_Mutation_p.L95F|MSH5_ENST00000375703.3_Missense_Mutation_p.L396F|MSH5_ENST00000375740.3_Missense_Mutation_p.L413F|MSH5_ENST00000375742.3_Missense_Mutation_p.L413F|MSH5_ENST00000375750.3_Missense_Mutation_p.L396F|MSH5_ENST00000375755.3_Missense_Mutation_p.L396F	p.L413F							14	1293	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1237C>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338044	0.81911	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;T;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;1.5;-2.82;-2.82	5.82	4.9	0.64082	DNA mismatch repair protein MutS, core (3);	0.171825	0.41097	D	0.000952	D	0.82903	0.5138	N	0.19112	0.55	0.30781	N	0.74198	P;P;D;B;D	0.57899	0.94;0.89;0.973;0.117;0.981	P;P;P;B;P	0.50352	0.582;0.505;0.638;0.138;0.627	D	0.85938	0.1456	9	0.66056	D	0.02	-25.7984	11.2462	0.48998	0.2902:0.7098:0.0:0.0	.	81;413;396;396;413	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	F	396;413;396;413;396;413;238;95;70	ENSP00000364908:L396F;ENSP00000364894:L413F;ENSP00000364903:L396F;ENSP00000431693:L413F;ENSP00000364855:L396F;ENSP00000364892:L413F;ENSP00000394971:L238F;ENSP00000416784:L95F;ENSP00000379194:L70F	ENSP00000364855:L396F	L	+	1	0	MSH5	31834346	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.122000	0.57910	2.756000	0.94617	0.561000	0.74099	CTC		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			8	115	0	0	0	1	0	8	115				
NCKAP5	344148	broad.mit.edu	37	2	133541832	133541832	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:133541832T>G	ENST00000409261.1	-	14	2925	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCTGAGCTCTCAGTCTTCAT	0.537																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2551-2553)gAg>gCg		NCK-associated protein 5							94.0	96.0	95.0					2																	133541832		1914	4127	6041	SO:0001583	missense	344148						protein binding	g.chr2:133541832T>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2552A>C	2.37:g.133541832T>G	ENSP00000387128:p.Glu851Ala					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A|NCKAP5_ENST00000409213.1_Intron	p.E851A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2925	-			851					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2552A>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.96	1.499646	0.26861	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11277	2.79;2.79	5.28	5.28	0.74379	.	0.207893	0.23141	U	0.051479	T	0.08935	0.0221	L	0.29908	0.895	0.80722	D	1	P	0.41848	0.763	B	0.36608	0.229	T	0.26710	-1.0095	10	0.34782	T	0.22	.	13.9476	0.64094	0.0:0.0:0.0:1.0	.	851	O14513	NCKP5_HUMAN	A	851	ENSP00000387128:E851A;ENSP00000380603:E851A	ENSP00000380603:E851A	E	-	2	0	NCKAP5	133258302	0.984000	0.35163	0.042000	0.18584	0.200000	0.23975	3.250000	0.51445	2.231000	0.72958	0.529000	0.55759	GAG		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	244	0	0	0	1	0	7	244				
SFMBT2	57713	broad.mit.edu	37	10	7214023	7214023	+	Missense_Mutation	SNP	G	G	A	rs375469710		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:7214023G>A	ENST00000361972.4	-	19	2339	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	750					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCACCTCCGCCGACGAGGT	0.721																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2248-2250)gCg>gTg		Scm-like with four mbt domains 2		G	VAL/ALA,VAL/ALA	0,4402		0,0,2201	19.0	22.0	21.0		2249,2249	2.2	0.0	10		21	1,8597		0,1,4298	no	missense,missense	SFMBT2	NM_001029880.2,NM_001018039.1	64,64	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	750/895,750/895	7214023	1,12999	2201	4299	6500	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214023G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2249C>T	10.37:g.7214023G>A	ENSP00000355109:p.Ala750Val					SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			19	2339	-			750					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2249C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	7.508	0.654044	0.14580	0.0	1.16E-4	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.14022	2.54;2.54	5.25	2.24	0.28232	.	0.285942	0.39210	N	0.001429	T	0.11281	0.0275	L	0.42245	1.32	0.44123	D	0.9969	B	0.10296	0.003	B	0.04013	0.001	T	0.13683	-1.0500	10	0.29301	T	0.29	.	9.6297	0.39772	0.244:0.0:0.756:0.0	.	750	Q5VUG0	SMBT2_HUMAN	V	750	ENSP00000355109:A750V;ENSP00000380353:A750V	ENSP00000355109:A750V	A	-	2	0	SFMBT2	7254029	0.997000	0.39634	0.011000	0.14972	0.169000	0.22640	3.493000	0.53266	0.155000	0.19261	-0.215000	0.12644	GCG		0.721	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		4	32	0	0	0	1	0	4	32				
ZNF280C	55609	broad.mit.edu	37	X	129370527	129370527	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:129370527C>A	ENST00000370978.4	-	7	733	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	194	Ser-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(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAGGAACATCTTCACTGGTC	0.363																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(580-582)Gat>Tat		zinc finger protein 280C							154.0	127.0	136.0					X																	129370527		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370527C>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.580G>T	X.37:g.129370527C>A	ENSP00000360017:p.Asp194Tyr						p.D194Y	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	733	-			194			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.580G>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678287	0.29783	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25414	1.8;1.8	3.92	-1.89	0.07689	.	.	.	.	.	T	0.27205	0.0667	N	0.22421	0.69	0.09310	N	1	P;P	0.52170	0.951;0.951	P;P	0.56163	0.793;0.793	T	0.31052	-0.9957	9	0.59425	D	0.04	.	10.6386	0.45579	0.0:0.3299:0.0:0.6701	.	194;194	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	194	ENSP00000360017:D194Y;ENSP00000408521:D194Y	ENSP00000066465:D194Y	D	-	1	0	ZNF280C	129198208	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.527000	0.06200	-1.296000	0.02353	-1.679000	0.00737	GAT		0.363	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		4	159	1	0	0.150653	1	0.150653	4	159				
DOCK5	80005	broad.mit.edu	37	8	25261108	25261108	+	Missense_Mutation	SNP	C	C	T	rs144175383	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:25261108C>T	ENST00000276440.7	+	48	5005	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1654					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAAGCCGCACGGGGTCTATT	0.532													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20111	0.0		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4960-4962)aCg>aTg		dedicator of cytokinesis 5		C	MET/THR	5,4401	9.9+/-24.2	0,5,2198	266.0	238.0	247.0		4961	4.0	0.8	8	dbSNP_134	247	0,8600		0,0,4300	yes	missense	DOCK5	NM_024940.6	81	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1654/1871	25261108	5,13001	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25261108C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4961C>T	8.37:g.25261108C>T	ENSP00000276440:p.Thr1654Met						p.T1654M	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	48	5005	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1654					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4961C>T	CCDS6047.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.12	1.262096	0.23051	0.001135	0.0	ENSG00000147459	ENST00000276440	T	0.04083	3.71	5.81	4.0	0.46444	.	0.524687	0.22121	N	0.064336	T	0.02807	0.0084	N	0.08118	0	0.26785	N	0.969521	P	0.51057	0.941	B	0.39531	0.302	T	0.44329	-0.9335	10	0.41790	T	0.15	.	11.2256	0.48882	0.0:0.8024:0.129:0.0686	.	1654	Q9H7D0	DOCK5_HUMAN	M	1654	ENSP00000276440:T1654M	ENSP00000276440:T1654M	T	+	2	0	DOCK5	25317025	0.993000	0.37304	0.805000	0.32314	0.015000	0.08874	2.903000	0.48711	1.440000	0.47531	-0.176000	0.13171	ACG		0.532	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		12	462	0	0	0	1	0	12	462				
DNMT3A	1788	broad.mit.edu	37	2	25467117	25467117	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:25467117G>A	ENST00000264709.3	-	15	2095	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	DNMT3A_ENST00000380746.4_Silent_p.C397C|DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	586	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCCGCACATGTAGC	0.612			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1756-1758)tgC>tgT		DNA (cytosine-5-)-methyltransferase 3 alpha							27.0	32.0	30.0					2																	25467117		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467117G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1758C>T	2.37:g.25467117G>A						DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000380746.4_Silent_p.C397C	p.C586C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2095	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1758C>T	CCDS33157.1																																																																																				0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	44	0	0	0	1	0	25	44				
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	rs566255473		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95.0	92.0	93.0					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	p.A563V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	207	0	0	0	1	0	4	207				
CYP4Z2P	163720	broad.mit.edu	37	1	47325654	47325654	+	RNA	DEL	T	T	-	rs552460453		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:47325654delT	ENST00000505841.1	-	0	1070					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AACTGTAAGCTTTTTTTTCGC	0.373																																						ENST00000505841.1																			0																																																			0							g.chr1:47325654delT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325654delT								NR_002788.2						0	1070	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.373	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		2	4						2	4	---	---	---	---
LINC00857	439990	broad.mit.edu	37	10	81975482	81975483	+	lincRNA	INS	-	-	TCTTTCTT	rs61081450|rs201913614		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:81975482_81975483insTCTTTCTT	ENST00000422847.1	+	0	522					NR_038464.1				long intergenic non-protein coding RNA 857																		Ctctttctttctctttctttct	0.401																																						ENST00000422847.1																			0																																																			0							g.chr10:81975482_81975483insTCTTTCTT			10q22.3	2013-02-15			ENSG00000237523	ENSG00000237523		"""Long non-coding RNAs"""	45114	non-coding RNA	RNA, long non-coding							Standard	NR_038464		Approved		uc001kbv.3		OTTHUMG00000018605		10.37:g.81975483_81975490dupTCTTTCTT								NR_038464.1						0	522	+									RNA	INS	ENST00000422847.1	37																																																																																						0.401	LINC00857-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000049054.1	NR_038464		2	4						2	4	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-	rs373265622|rs538773767		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1541_1542delAGAT	c.(1540-1542)aag>a	p.K514fs	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471																																						ENST00000376217.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.e17-1		glycerophosphodiester phosphodiesterase domain containing 4				0,120,4144		0,0,0,54,12,2066						-4.4	0.0			131	2,475,7777		0,0,2,232,11,3882	no	utr-3	GDPD4	NM_182833.1		0,0,2,286,23,5948	A1A1,A1A2,A1R,A2A2,A2R,RR		5.779,2.8143,4.7691				2,595,11921				SO:0001630	splice_region_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76928312_76928315delATCT	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1541-1AGAT>-	11.37:g.76928320_76928323delATCT						GDPD4_ENST00000315938.4_3'UTR	p.514_splice			Q6W3E5	GDPD4_HUMAN			17	1791_1792	-			514					Q7Z5B0	Splice_Site	DEL	ENST00000376217.2	37	c.1540_splice																																																																																					0.471	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	Frame_Shift_Del	7	171						7	171	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579328	7579328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7579328delT	ENST00000269305.4	-	4	548	c.359delA	c.(358-360)aagfs	p.K120fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs	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	120	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	AGTCACAGACTTGGCTGTCCC	0.567		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"""		27	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(7)|Deletion - In frame(2)	p.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(5)|bone(5)|urinary_tract(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|soft_tissue(1)|liver(1)|pancreas(1)|prostate(1)|breast(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						c.(358-360)agfs	Other conserved DNA damage response genes	tumor protein p53							66.0	62.0	63.0					17																	7579328		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579328delT	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.359delA	17.37:g.7579328delT	ENSP00000269305:p.Lys120fs	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_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs	p.K120fs	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)	4	491	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	120		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.359delA	CCDS11118.1																																																																																				0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		79	92						79	92	---	---	---	---
CNTD1	124817	broad.mit.edu	37	17	40957798	40957800	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:40957798_40957800delAAG	ENST00000588408.1	+	4	752_754	c.476_478delAAG	c.(475-480)aaagaa>aaa	p.E161del	CNTD1_ENST00000588527.1_In_Frame_Del_p.E78del|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	161	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTACACACTAAAGAAGAACTGCT	0.419																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(475-480)aaa>a		cyclin N-terminal domain containing 1																																				SO:0001651	inframe_deletion	124817							g.chr17:40957798_40957800delAAG	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.476_478delAAG	17.37:g.40957801_40957803delAAG	ENSP00000465204:p.Glu161del					CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_In_Frame_Del_p.KE76del	p.KE159del	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	752_754	+		Breast(137;0.00104)	159			Cyclin N-terminal.		Q658Q6|Q8NEP1	In_Frame_Del	DEL	ENST00000588408.1	37	c.476_478delAAG	CCDS11440.1																																																																																				0.419	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		9	116						9	116	---	---	---	---
