#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
R3HDM1	23518	broad.mit.edu	37	2	136467088	136467088	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:136467088C>A	ENST00000264160.4	+	21	2810	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	814							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGCTTCAAGGCCACCA	0.383																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2440-2442)Caa>Aaa		R3H domain containing 1							121.0	105.0	110.0					2																	136467088		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467088C>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2440C>A	2.37:g.136467088C>A	ENSP00000264160:p.Gln814Lys					R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K	p.Q814K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	21	2810	+			814					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2440C>A	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.93|16.93|16.93	3.259143|3.259143|3.259143	0.59321|0.59321|0.59321	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000445855|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	.|T;T;T;T;T|.	.|0.32753|.	.|1.47;1.44;1.46;1.44;1.44|.	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	.|0.287902|.	.|0.34484|.	.|N|.	.|0.003934|.	T|T|.	0.57213|0.57213|.	0.2038|0.2038|.	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.29526|0.29526|0.29526	N|N|N	0.853154|0.853154|0.853154	.|P;B;B;B|.	.|0.36837|.	.|0.571;0.116;0.156;0.094|.	.|B;B;B;B|.	.|0.39027|.	.|0.288;0.055;0.054;0.054|.	T|T|.	0.53892|0.53892|.	-0.8374|-0.8374|.	5|10|.	.|0.36615|.	.|T|.	.|0.2|.	-2.8567|-2.8567|-2.8567	19.286|19.286|19.286	0.94069|0.94069|0.94069	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|686;815;759;814|.	.|G5E9G8;E9PBB4;E9PG42;Q15032|.	.|.;.;.;R3HD1_HUMAN|.	L|K|X	109|686;814;685;759;815|537	.|ENSP00000386457:Q686K;ENSP00000264160:Q814K;ENSP00000331396:Q685K;ENSP00000386877:Q759K;ENSP00000387010:Q815K|.	.|ENSP00000264160:Q814K|.	F|Q|S	+|+|+	3|1|2	2|0|0	R3HDM1|R3HDM1|R3HDM1	136183558|136183558|136183558	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	4.081000|4.081000|4.081000	0.57627|0.57627|0.57627	2.647000|2.647000|2.647000	0.89833|0.89833|0.89833	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	TTC|CAA|TCA		0.383	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		3	39	1	0	1	1	1	3	39				
C4BPA	722	broad.mit.edu	37	1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(187-189)Gat>Aat		complement component 4 binding protein, alpha							195.0	177.0	183.0					1																	207287489		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207287489G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.187G>A	1.37:g.207287489G>A	ENSP00000356037:p.Asp63Asn						p.D63N	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			3	381	+			63			Sushi 1.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.187G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	1.692	-0.503756	0.04261	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65364	-0.15;-0.15	5.25	6.55E-4	0.14043	Complement control module (2);Sushi/SCR/CCP (3);	1.810110	0.02798	N	0.122842	T	0.25044	0.0608	N	0.00760	-1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	10	0.02654	T	1	.	2.9106	0.05736	0.516:0.0:0.1729:0.3111	.	63	P04003	C4BPA_HUMAN	N	63	ENSP00000356037:D63N;ENSP00000403386:D63N	ENSP00000356037:D63N	D	+	1	0	C4BPA	205354112	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	0.173000	0.19788	-1.004000	0.02495	GAT		0.478	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			43	76	0	0	0	1	0	43	76				
NUPL2	11097	broad.mit.edu	37	7	23236324	23236324	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:23236324A>G	ENST00000258742.5	+	5	807	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	183					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGTTTAATAAATCAATGGAGG	0.323																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)aAt>aGt		nucleoporin like 2							84.0	86.0	86.0					7																	23236324		2203	4298	6501	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23236324A>G	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.548A>G	7.37:g.23236324A>G	ENSP00000258742:p.Asn183Ser						p.N183S	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			5	807	+			183					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.548A>G	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310933	0.23821	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	-1.23	0.09465	.	0.372967	0.34156	N	0.004213	T	0.22704	0.0548	N	0.25380	0.74	0.40251	D	0.978078	B	0.15930	0.015	B	0.17722	0.019	T	0.29852	-0.9998	10	0.06757	T	0.87	-5.4405	10.6885	0.45856	0.567:0.0:0.433:0.0	.	183	O15504	NUPL2_HUMAN	S	183	ENSP00000258742:N183S;ENSP00000401475:N183S	ENSP00000258742:N183S	N	+	2	0	NUPL2	23202849	0.169000	0.23002	0.847000	0.33407	0.965000	0.64279	0.545000	0.23268	-0.452000	0.07087	0.482000	0.46254	AAT		0.323	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		22	31	0	0	0	1	0	22	31				
KDM5A	5927	broad.mit.edu	37	12	442740	442740	+	Silent	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr12:442740G>C	ENST00000399788.2	-	12	1928	c.1566C>G	c.(1564-1566)gcC>gcG	p.A522A	KDM5A_ENST00000382815.4_Silent_p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	522	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATAACTCGGGGGCCAGCTCTC	0.502			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1564-1566)gcC>gcG		lysine (K)-specific demethylase 5A							128.0	133.0	131.0					12																	442740		2015	4188	6203	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442740G>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1566C>G	12.37:g.442740G>C						KDM5A_ENST00000382815.4_Silent_p.A522A	p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			12	1928	-			522			JmjC.		A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.1566C>G	CCDS41736.1																																																																																				0.502	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		7	97	0	0	0	1	0	7	97				
HCFC1	3054	broad.mit.edu	37	X	153222180	153222180	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:153222180G>A	ENST00000310441.7	-	15	3497	c.2531C>T	c.(2530-2532)aCc>aTc	p.T844I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	844	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGAGGATGGTGCCTGGCTG	0.647																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2530-2532)aCc>aTc		host cell factor C1 (VP16-accessory protein)							67.0	75.0	72.0					X																	153222180		2132	4213	6345	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222180G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2531C>T	X.37:g.153222180G>A	ENSP00000309555:p.Thr844Ile					HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I	p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			15	3497	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		844			Interaction with GABP2.|Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2531C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207072	0.79127	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04551	3.96;3.96;3.6	5.5	5.5	0.81552	.	0.097446	0.64402	D	0.000001	T	0.13798	0.0334	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01988	-1.1234	10	0.87932	D	0	.	17.1119	0.86678	0.0:0.0:1.0:0.0	.	844	P51610	HCFC1_HUMAN	I	844;844;775	ENSP00000309555:T844I;ENSP00000359001:T844I;ENSP00000346174:T775I	ENSP00000309555:T844I	T	-	2	0	HCFC1	152875374	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.235000	0.95353	2.305000	0.77605	0.429000	0.28392	ACC		0.647	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		40	13	0	0	0	1	0	40	13				
LRRC14	9684	broad.mit.edu	37	8	145746678	145746678	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:145746678A>G	ENST00000292524.1	+	4	1444	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	433										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCCTGTGGACTGCTATGAG	0.627																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1297-1299)gAc>gGc		leucine rich repeat containing 14							57.0	55.0	56.0					8																	145746678		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145746678A>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1298A>G	8.37:g.145746678A>G	ENSP00000292524:p.Asp433Gly					LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1444	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		433					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1298A>G	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709476	0.48517	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.08807	3.05;3.05	4.96	4.96	0.65561	.	0.053968	0.64402	D	0.000001	T	0.27765	0.0683	M	0.73962	2.25	0.48975	D	0.99973	D	0.89917	1.0	D	0.79784	0.993	T	0.01378	-1.1370	10	0.87932	D	0	.	12.6832	0.56934	1.0:0.0:0.0:0.0	.	433	Q15048	LRC14_HUMAN	G	433	ENSP00000434768:D433G;ENSP00000292524:D433G	ENSP00000292524:D433G	D	+	2	0	LRRC14	145717486	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	5.479000	0.66813	2.097000	0.63578	0.529000	0.55759	GAC		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		26	45	0	0	0	1	0	26	45				
RREB1	6239	broad.mit.edu	37	6	7240815	7240815	+	Intron	SNP	T	T	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:7240815T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.V1318D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGAGTGATGTTGGATCCCAT	0.507																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3952-3954)gTt>gAt		ras responsive element binding protein 1							86.0	71.0	76.0					6																	7240815		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240815T>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5842T>A	6.37:g.7240815T>A						RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000349384.6_Intron	p.V1318D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4490	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3953T>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797689	0.50208	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.10960	3.03;2.82	5.05	-2.22	0.06952	.	.	.	.	.	T	0.01254	0.0041	.	.	.	0.50813	D	0.999895	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.46176	-0.9210	8	0.12766	T	0.61	-1.1933	2.2832	0.04120	0.1066:0.1758:0.3282:0.3894	.	1318;1318	Q92766-3;Q92766-2	.;.	D	1318	ENSP00000369270:V1318D;ENSP00000335574:V1318D	ENSP00000335574:V1318D	V	+	2	0	RREB1	7185814	1.000000	0.71417	0.976000	0.42696	0.999000	0.98932	0.631000	0.24568	-0.518000	0.06452	0.528000	0.53228	GTT		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			25	22	0	0	0	1	0	25	22				
STOX1	219736	broad.mit.edu	37	10	70645061	70645061	+	Silent	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr10:70645061A>G	ENST00000298596.6	+	3	1592	c.1509A>G	c.(1507-1509)cgA>cgG	p.R503R	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.R503R|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	503						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGTCTCACCGAGGAAGCACAA	0.448																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1507-1509)cgA>cgG		storkhead box 1							54.0	51.0	52.0					10																	70645061		1865	4092	5957	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645061A>G	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1509A>G	10.37:g.70645061A>G						STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R	p.R503R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1592	+			503					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.1509A>G	CCDS41535.1																																																																																				0.448	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		33	47	0	0	0	1	0	33	47				
KRT31	3881	broad.mit.edu	37	17	39551856	39551856	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:39551856C>A	ENST00000251645.2	-	4	660	c.608G>T	c.(607-609)tGc>tTc	p.C203F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	203	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAAGCTGGCAGCGCAGGGT	0.517																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(607-609)tGc>tTc		keratin 31							70.0	64.0	66.0					17																	39551856		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551856C>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.608G>T	17.37:g.39551856C>A	ENSP00000251645:p.Cys203Phe						p.C203F	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	660	-		Breast(137;0.000496)	203			Coil 1B.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.608G>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	17.61	3.432979	0.62844	.	.	ENSG00000094796	ENST00000251645	T	0.77098	-1.07	5.1	3.99	0.46301	Filament (1);	0.255716	0.35436	N	0.003205	D	0.82318	0.5011	M	0.86953	2.85	0.36320	D	0.858184	P	0.38788	0.647	P	0.46419	0.516	D	0.85116	0.0966	10	0.66056	D	0.02	.	6.824	0.23872	0.0:0.7183:0.1659:0.1158	.	203	Q15323	K1H1_HUMAN	F	203	ENSP00000251645:C203F	ENSP00000251645:C203F	C	-	2	0	KRT31	36805382	0.003000	0.15002	0.970000	0.41538	0.987000	0.75469	1.154000	0.31688	1.014000	0.39417	0.563000	0.77884	TGC		0.517	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		20	26	1	0	8.34094e-07	1	8.98255e-07	20	26				
ADAMTSL1	92949	broad.mit.edu	37	9	18657637	18657637	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:18657637A>G	ENST00000380548.4	+	8	1174	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279V|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279V|ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	279						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACTCCTGCAGATTCGTAACTC	0.483																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e8-1		ADAMTS-like 1							94.0	78.0	83.0					9																	18657637		2203	4300	6503	SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18657637A>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.835-1A>G	9.37:g.18657637A>G						ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279_splice	p.I279_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	8	1174	+			279					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	SNP	ENST00000380548.4	37	c.834_splice	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	0.222	-1.027583	0.02045	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.60171	0.21;1.01;1.01;1.01	5.71	3.36	0.38483	.	.	.	.	.	T	0.23492	0.0568	N	0.01817	-0.705	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.0;0.005	T	0.20773	-1.0265	9	0.02654	T	1	.	7.5005	0.27516	0.691:0.0:0.309:0.0	.	279;279	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	V	279	ENSP00000369921:I279V;ENSP00000327887:I279V;ENSP00000369940:I279V;ENSP00000276935:I279V	ENSP00000276935:I279V	I	+	1	0	ADAMTSL1	18647637	1.000000	0.71417	0.994000	0.49952	0.385000	0.30292	1.176000	0.31957	0.985000	0.38656	0.533000	0.62120	ATT		0.483	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Missense_Mutation	21	21	0	0	0	1	0	21	21				
ZBTB20	26137	broad.mit.edu	37	3	114058161	114058161	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:114058161G>A	ENST00000474710.1	-	5	2095	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000357258.3_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000462705.1_Silent_p.C566C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	639						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCGCTTGTTGCAGATACTAC	0.512																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1696-1698)tgC>tgT		zinc finger and BTB domain containing 20							203.0	174.0	184.0					3																	114058161		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058161G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1917C>T	3.37:g.114058161G>A						ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000357258.3_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C	p.C566C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2519	-			639					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1698C>T	CCDS54626.1																																																																																				0.512	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		41	54	0	0	0	1	0	41	54				
USP53	54532	broad.mit.edu	37	4	120193028	120193028	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:120193028G>C	ENST00000274030.6	+	16	3192	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	USP53_ENST00000450251.1_Missense_Mutation_p.E671D	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCCTTGTAGAGGGTAAAGTGC	0.393																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2011-2013)gaG>gaC		ubiquitin specific peptidase 53							135.0	124.0	127.0					4																	120193028		1904	4138	6042	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120193028G>C	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2013G>C	4.37:g.120193028G>C	ENSP00000274030:p.Glu671Asp					USP53_ENST00000274030.6_Missense_Mutation_p.E671D	p.E671D			Q70EK8	UBP53_HUMAN			12	2557	+			671						Missense_Mutation	SNP	ENST00000274030.6	37	c.2013G>C	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	8.319	0.823961	0.16678	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.47869	0.83;0.83	5.47	3.7	0.42460	.	0.222652	0.37304	N	0.002144	T	0.38026	0.1025	L	0.55481	1.735	0.09310	N	0.999999	B	0.15930	0.015	B	0.14023	0.01	T	0.21484	-1.0244	10	0.32370	T	0.25	-21.4003	6.1147	0.20120	0.1701:0.1545:0.6754:0.0	.	671	Q70EK8	UBP53_HUMAN	D	671	ENSP00000274030:E671D;ENSP00000409906:E671D	ENSP00000274030:E671D	E	+	3	2	USP53	120412476	0.942000	0.31987	0.368000	0.25939	0.373000	0.29922	0.452000	0.21795	1.264000	0.44198	0.563000	0.77884	GAG		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		4	94	0	0	0	1	0	4	94				
FAM120C	54954	broad.mit.edu	37	X	54209078	54209078	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:54209078C>T	ENST00000375180.2	-	1	610	c.554G>A	c.(553-555)cGt>cAt	p.R185H	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGCACCGACGGCCCCACTC	0.721																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(553-555)cGt>cAt		family with sequence similarity 120C							18.0	14.0	15.0					X																	54209078		2160	4221	6381	SO:0001583	missense	54954							g.chrX:54209078C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.554G>A	X.37:g.54209078C>T	ENSP00000364324:p.Arg185His					FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR	p.R185H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	610	-			185					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.554G>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.946084	0.73672	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.53423	0.62;0.62;0.62	3.38	0.399	0.16325	.	0.377447	0.24552	U	0.037560	T	0.41558	0.1164	L	0.27053	0.805	0.38211	D	0.940466	D;B;D	0.67145	0.996;0.013;0.996	P;B;P	0.57283	0.813;0.009;0.817	T	0.42050	-0.9474	10	0.72032	D	0.01	.	3.7921	0.08724	0.1653:0.5764:0.1579:0.1005	.	185;185;185	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	H	185	ENSP00000364324:R185H;ENSP00000329896:R185H;ENSP00000420718:R185H	ENSP00000329896:R185H	R	-	2	0	FAM120C	54225803	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	1.175000	0.31944	-0.149000	0.11215	0.513000	0.50165	CGT		0.721	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	9	0	0	0	1	0	5	9				
BRSK1	84446	broad.mit.edu	37	19	55800958	55800958	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:55800958C>T	ENST00000309383.1	+	4	705	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ATTGTGTCTGCGCTGGACTTC	0.622																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(427-429)gCg>gTg		BR serine/threonine kinase 1							72.0	53.0	60.0					19																	55800958		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55800958C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.428C>T	19.37:g.55800958C>T	ENSP00000310649:p.Ala143Val					BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	705	+		Renal(1328;0.245)	143			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.428C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.384254	0.82792	.	.	ENSG00000160469	ENST00000309383	T	0.38240	1.15	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068203	0.56097	D	0.000028	T	0.63141	0.2486	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.66791	-0.5834	10	0.87932	D	0	.	18.1963	0.89823	0.0:1.0:0.0:0.0	.	143;159	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	V	143	ENSP00000310649:A143V	ENSP00000310649:A143V	A	+	2	0	BRSK1	60492770	1.000000	0.71417	0.156000	0.22583	0.366000	0.29705	7.349000	0.79376	2.674000	0.91012	0.450000	0.29827	GCG		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		23	32	0	0	0	1	0	23	32				
RABGAP1L	9910	broad.mit.edu	37	1	174926682	174926682	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:174926682A>G	ENST00000251507.4	+	20	2603	c.2429A>G	c.(2428-2430)tAc>tGc	p.Y810C	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000489615.1_Missense_Mutation_p.Y129C|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGGATAGATACAAGGTATGA	0.423																																						ENST00000489615.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(385-387)tAc>tGc		RAB GTPase activating protein 1-like							95.0	95.0	95.0					1																	174926682		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174926682A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2429A>G	1.37:g.174926682A>G	ENSP00000251507:p.Tyr810Cys					RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C	p.Y129C	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN			3	787	+			810			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.386A>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114350	0.77210	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000478442;ENST00000465412;ENST00000486220;ENST00000392064	T;T;T;T	0.14516	3.3;2.5;2.72;2.72	6.17	6.17	0.99709	.	0.058557	0.64402	D	0.000001	T	0.28962	0.0719	L	0.38531	1.155	0.52099	D	0.999946	D;D;B;B;D;D	0.76494	0.998;0.999;0.037;0.14;0.99;0.998	P;D;B;B;P;P	0.69307	0.847;0.963;0.048;0.078;0.882;0.885	T	0.00797	-1.1562	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	67;117;129;136;137;810	F5H8L0;Q9Y3L8;Q5R372-8;Q5R372-6;Q5R372-5;Q5R372	.;.;.;.;.;RBG1L_HUMAN	C	810;822;117;136;137;129;67;67;67;67	ENSP00000251507:Y810C;ENSP00000318603:Y117C;ENSP00000356660:Y136C;ENSP00000281844:Y137C	ENSP00000251507:Y810C	Y	+	2	0	RABGAP1L	173193305	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.977000	0.76141	2.371000	0.80710	0.533000	0.62120	TAC		0.423	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		12	26	0	0	0	1	0	12	26				
MAL2	114569	broad.mit.edu	37	8	120233832	120233832	+	Silent	SNP	C	C	T	rs376851988		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:120233832C>T	ENST00000276681.6	+	3	240	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCAGCTGTTCGGGGGTCTTG	0.428																																						ENST00000276681.6																			0											c.(136-138)ttC>ttT		mal, T-cell differentiation protein 2 (gene/pseudogene)		C		0,3806		0,0,1903	256.0	252.0	253.0		139	-5.8	0.1	8		253	2,8226		0,2,4112	no	coding-synonymous	MAL2	NM_052886.2		0,2,6015	TT,TC,CC		0.0243,0.0,0.0166		46/177	120233832	2,12032	1903	4114	6017	SO:0001819	synonymous_variant	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233832C>T	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.138C>T	8.37:g.120233832C>T						MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.F46F	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	240	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		46			MARVEL.		B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37	c.138C>T																																																																																					0.428	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		48	308	0	0	0	1	0	48	308				
RGS12	6002	broad.mit.edu	37	4	3318022	3318022	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:3318022G>T	ENST00000344733.5	+	2	1029	c.125G>T	c.(124-126)tGt>tTt	p.C42F	RGS12_ENST00000382788.3_Missense_Mutation_p.C42F|RGS12_ENST00000336727.3_Missense_Mutation_p.C42F|RGS12_ENST00000543385.1_Missense_Mutation_p.C42F	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	42	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGCACCCTGTGTGCTCAGC	0.612																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(124-126)tGt>tTt		regulator of G-protein signaling 12							58.0	58.0	58.0					4																	3318022		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318022G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.125G>T	4.37:g.3318022G>T	ENSP00000339381:p.Cys42Phe					RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F	p.C42F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1029	+			42			PDZ.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.125G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195212	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.31420	0.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.63857	-0.6542	10	0.87932	D	0	-16.5834	16.6574	0.85232	0.0:0.0:1.0:0.0	.	42;42;42	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	F	42	ENSP00000440566:C42F;ENSP00000339381:C42F;ENSP00000338509:C42F;ENSP00000372238:C42F	ENSP00000338509:C42F	C	+	2	0	RGS12	3287820	1.000000	0.71417	0.946000	0.38457	0.709000	0.40893	9.466000	0.97665	2.166000	0.68216	0.313000	0.20887	TGT		0.612	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		26	30	1	0	1.64293e-13	1	1.86495e-13	26	30				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	199	0	0	0	1	0	5	199				
CACNA2D1	781	broad.mit.edu	37	7	81591323	81591323	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:81591323A>T	ENST00000356253.5	-	36	3144	c.2889T>A	c.(2887-2889)gaT>gaA	p.D963E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D951E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCGTGAAGTCATCATCCTCCA	0.483																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2851-2853)gaT>gaA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						117.0	110.0	112.0					7																	81591323		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591323A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2889T>A	7.37:g.81591323A>T	ENSP00000348589:p.Asp963Glu					CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E	p.D951E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3191	-			963					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2853T>A		.	.	.	.	.	.	.	.	.	.	A	1.911	-0.450745	0.04572	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.65732	-0.17;-0.17;-0.17	5.19	-10.4	0.00318	.	0.388795	0.30859	N	0.008735	T	0.23054	0.0557	N	0.11364	0.135	0.21020	N	0.999802	B;B	0.12013	0.005;0.002	B;B	0.18263	0.021;0.008	T	0.47861	-0.9084	10	0.02654	T	1	-4.9601	3.2279	0.06739	0.1911:0.3897:0.2651:0.1542	.	163;951	B7Z658;P54289-2	.;.	E	951;970;963;163	ENSP00000349320:D951E;ENSP00000348589:D963E;ENSP00000443124:D163E	ENSP00000284088:D970E	D	-	3	2	CACNA2D1	81429259	0.001000	0.12720	0.031000	0.17742	0.926000	0.56050	-1.877000	0.01631	-3.533000	0.00145	0.529000	0.55759	GAT		0.483	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				22	48	0	0	0	1	0	22	48				
ABCA2	20	broad.mit.edu	37	9	139910252	139910252	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:139910252C>A	ENST00000371605.3	-	22	3533	c.3386G>T	c.(3385-3387)cGc>cTc	p.R1129L	ABCA2_ENST00000265662.5_Missense_Mutation_p.R1130L|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1129	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACAGCTTGCGCTTCATGCC	0.672																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(3388-3390)cGc>cTc		ATP-binding cassette, sub-family A (ABC1), member 2							40.0	46.0	44.0					9																	139910252		2184	4285	6469	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910252C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3386G>T	9.37:g.139910252C>A	ENSP00000360666:p.Arg1129Leu					ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L	p.R1130L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3536	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1129			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3389G>T		.	.	.	.	.	.	.	.	.	.	C	18.55	3.648286	0.67358	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99851	-7.17;-7.17;-7.17	4.2	4.2	0.49525	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.99900	0.9952	H	0.95780	3.72	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95927	0.8935	10	0.87932	D	0	.	16.5127	0.84290	0.0:1.0:0.0:0.0	.	1129;1160	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	1130;1129;1160;1130	ENSP00000265662:R1130L;ENSP00000360666:R1129L;ENSP00000344155:R1130L	ENSP00000265662:R1130L	R	-	2	0	ABCA2	139030073	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	7.632000	0.83247	1.880000	0.54463	0.313000	0.20887	CGC		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		30	24	1	0	1.30897e-18	1	1.52713e-18	30	24				
MED12L	116931	broad.mit.edu	37	3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151085530G>A	ENST00000474524.1	+	22	3357	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	MED12L_ENST00000273432.4_Missense_Mutation_p.A967T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1107						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCATGTCGCACTTCCCTC	0.453																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(3319-3321)Gca>Aca		mediator complex subunit 12-like							211.0	182.0	192.0					3																	151085530		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151085530G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3319G>A	3.37:g.151085530G>A	ENSP00000417235:p.Ala1107Thr					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T	p.A1107T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		22	3357	+			1107					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3319G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	37	6.382075	0.97520	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29397	1.57;1.57	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.982;0.985	T	0.61312	-0.7088	10	0.87932	D	0	-19.0177	17.7743	0.88502	0.0:0.0:1.0:0.0	.	967;1106;1107	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	1107;967	ENSP00000417235:A1107T;ENSP00000273432:A967T	ENSP00000273432:A967T	A	+	1	0	MED12L	152568220	1.000000	0.71417	0.179000	0.23059	0.839000	0.47603	8.769000	0.91742	2.793000	0.96121	0.655000	0.94253	GCA		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		60	92	0	0	0	1	0	60	92				
STAT5B	6777	broad.mit.edu	37	17	40354366	40354366	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:40354366G>A	ENST00000293328.3	-	18	2397	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	743					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTCTGTGGGTACATGTTAT	0.632																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2227-2229)taC>taT		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						47.0	43.0	44.0					17																	40354366		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40354366G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2229C>T	17.37:g.40354366G>A							p.Y743Y	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	18	2397	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	743					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.2229C>T	CCDS11423.1																																																																																				0.632	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		9	24	0	0	0	1	0	9	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	58	0	0	0	1	0	34	58				
RAB19	401409	broad.mit.edu	37	7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:140125837G>A	ENST00000356407.3	+	3	609	c.541G>A	c.(541-543)Gcg>Acg	p.A181T	RAB19_ENST00000537763.1_Missense_Mutation_p.A181T|RAB19_ENST00000275874.5_Missense_Mutation_p.A228T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(682-684)Gcg>Acg		RAB19, member RAS oncogene family							92.0	87.0	89.0					7																	140125837		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125837G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.541G>A	7.37:g.140125837G>A	ENSP00000348778:p.Ala181Thr					RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T	p.A228T			A4D1S5	RAB19_HUMAN			5	880	+	Melanoma(164;0.0142)		181					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.682G>A	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187723	0.78789	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	T;T;T	0.79940	-1.32;-1.32;-1.32	5.69	4.81	0.61882	.	0.146563	0.64402	N	0.000009	T	0.66446	0.2790	N	0.20807	0.61	0.58432	D	0.999995	B	0.31859	0.343	B	0.26517	0.07	T	0.63216	-0.6687	9	.	.	.	.	14.4965	0.67691	0.0701:0.0:0.9299:0.0	.	181	A4D1S5	RAB19_HUMAN	T	228;181;181	ENSP00000275874:A228T;ENSP00000440167:A181T;ENSP00000348778:A181T	.	A	+	1	0	RAB19	139772306	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.213000	0.77950	1.415000	0.47037	0.561000	0.74099	GCG		0.572	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			24	103	0	0	0	1	0	24	103				
SPINK7	84651	broad.mit.edu	37	5	147693711	147693711	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:147693711C>T	ENST00000274565.4	+	3	197	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000514394.1_3'UTR	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	46	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCCTGCCCCATCACATA	0.463																																						ENST00000274565.4																			0				large_intestine(2)|lung(3)	5						c.(136-138)Ccc>Tcc		serine peptidase inhibitor, Kazal type 7 (putative)							239.0	197.0	212.0					5																	147693711		2203	4300	6503	SO:0001583	missense	84651					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147693711C>T		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"""Serine peptidase inhibitors, Kazal type"""	24643	protein-coding gene	gene with protein product	"""esophagus cancer related gene 2"""					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.136C>T	5.37:g.147693711C>T	ENSP00000274565:p.Pro46Ser					SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA	p.P46S	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	197	+			46			Kazal-like.		Q32LY0	Missense_Mutation	SNP	ENST00000274565.4	37	c.136C>T	CCDS4289.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382535	0.82792	.	.	ENSG00000145879	ENST00000274565;ENST00000523535	T;T	0.75821	-0.97;-0.97	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (3);	0.078976	0.50627	D	0.000116	D	0.84651	0.5519	.	.	.	0.41367	D	0.987469	D	0.89917	1.0	D	0.91635	0.999	T	0.82350	-0.0501	9	0.32370	T	0.25	-12.3782	15.7153	0.77663	0.0:1.0:0.0:0.0	.	46	P58062	ISK7_HUMAN	S	46;20	ENSP00000274565:P46S;ENSP00000427887:P20S	ENSP00000274565:P46S	P	+	1	0	SPINK7	147673904	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.463000	0.53050	2.861000	0.98227	0.655000	0.94253	CCC		0.463	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251944.5	NM_032566		54	64	0	0	0	1	0	54	64				
MUC16	94025	broad.mit.edu	37	19	9047644	9047644	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:9047644G>T	ENST00000397910.4	-	5	34190	c.33987C>A	c.(33985-33987)gaC>gaA	p.D11329E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11331	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						TTGCACTGATGTCTCTCCCAG	0.507																																						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.(33985-33987)gaC>gaA		mucin 16, cell surface associated							162.0	152.0	155.0					19																	9047644		2074	4207	6281	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047644G>T	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.33987C>A	19.37:g.9047644G>T	ENSP00000381008:p.Asp11329Glu						p.D11329E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34190	-			11331			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33987C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.862	0.160257	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	2.89	-5.79	0.02354	.	.	.	.	.	T	0.01905	0.0060	L	0.27053	0.805	.	.	.	B	0.24576	0.106	B	0.23574	0.047	T	0.44452	-0.9327	8	0.87932	D	0	.	1.753	0.02976	0.2334:0.1537:0.413:0.1999	.	11329	B5ME49	.	E	11329	ENSP00000381008:D11329E	ENSP00000381008:D11329E	D	-	3	2	MUC16	8908644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-9.273000	0.00012	-2.065000	0.00887	-0.342000	0.07992	GAC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	131	1	0	4.7546e-09	1	5.25509e-09	15	131				
ZBBX	79740	broad.mit.edu	37	3	167039968	167039968	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:167039968T>C	ENST00000392766.2	-	12	1260	c.920A>G	c.(919-921)aAt>aGt	p.N307S	ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	307						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGTTCAATATTAAGTGGTTC	0.279																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(919-921)aAt>aGt		zinc finger, B-box domain containing							70.0	67.0	68.0					3																	167039968		1789	4034	5823	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167039968T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.920A>G	3.37:g.167039968T>C	ENSP00000376519:p.Asn307Ser					ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S	p.N307S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			12	1260	-			307					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.920A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	8.988	0.976977	0.18812	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09723	3.12;3.12;3.11;3.11;2.95	5.76	1.93	0.25924	.	0.764210	0.10564	U	0.659922	T	0.09992	0.0245	L	0.43152	1.355	0.09310	N	1	B;B	0.26318	0.103;0.146	B;B	0.25140	0.058;0.038	T	0.32719	-0.9896	10	0.45353	T	0.12	0.1325	6.8227	0.23866	0.1407:0.0:0.3488:0.5105	.	307;307	A8MT70-2;A8MT70	.;ZBBX_HUMAN	S	307;307;307;307;278	ENSP00000376519:N307S;ENSP00000376520:N307S;ENSP00000390232:N307S;ENSP00000305065:N307S;ENSP00000376517:N278S	ENSP00000305065:N307S	N	-	2	0	ZBBX	168522662	0.003000	0.15002	0.028000	0.17463	0.651000	0.38670	1.020000	0.30027	0.086000	0.17137	-0.446000	0.05623	AAT		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		29	46	0	0	0	1	0	29	46				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	105	0	0	0	1	0	4	105				
MED12L	116931	broad.mit.edu	37	3	151067902	151067902	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151067902G>A	ENST00000474524.1	+	15	2239	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	734						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGGAGTCGGCAAAGAGCGT	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2200-2202)gGc>gAc		mediator complex subunit 12-like							198.0	204.0	202.0					3																	151067902		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067902G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2201G>A	3.37:g.151067902G>A	ENSP00000417235:p.Gly734Asp					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR	p.G734D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2239	+			734					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2201G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211391	0.95069	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64991	0.06;-0.13	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80046	-0.1546	10	0.87932	D	0	-19.7081	19.6841	0.95974	0.0:0.0:1.0:0.0	.	594;734	F8WAE6;Q86YW9	.;MD12L_HUMAN	D	734;594	ENSP00000417235:G734D;ENSP00000273432:G594D	ENSP00000273432:G594D	G	+	2	0	MED12L	152550592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.958000	0.93099	2.752000	0.94435	0.557000	0.71058	GGC		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	211	0	0	0	1	0	4	211				
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	AGAGCCAACCTAGGAGATAAC	0.522		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"""		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(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.e7-2	Other conserved DNA damage response genes	tumor protein p53							88.0	74.0	79.0					17																	7577610		2203	4300	6503	SO:0001630	splice_region_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.chr17:7577610T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	44	10	0	0	0	1	0	44	10				
PRX	57716	broad.mit.edu	37	19	40901999	40901999	+	Missense_Mutation	SNP	G	G	A	rs372473354		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:40901999G>A	ENST00000324001.7	-	7	2530	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	754	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGCAGCCGAATCTCTGAC	0.597																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2260-2262)Cgg>Tgg		periaxin		G	,TRP/ARG	1,4405		0,1,2202	84.0	89.0	87.0		,2260	-0.0	0.2	19		87	2,8598		0,2,4298	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,probably-damaging	,754/1462	40901999	3,13003	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901999G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2260C>T	19.37:g.40901999G>A	ENSP00000326018:p.Arg754Trp					PRX_ENST00000291825.7_3'UTR	p.R754W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2530	-			754			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2260C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340831	0.41498	2.27E-4	2.33E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	3.9	-0.0079	0.14007	.	0.609227	0.13680	N	0.370270	T	0.02688	0.0081	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.46871	-0.9160	10	0.52906	T	0.07	-1.3519	2.6516	0.05001	0.0968:0.1489:0.2975:0.4568	.	754	Q9BXM0	PRAX_HUMAN	W	754	ENSP00000326018:R754W	ENSP00000326018:R754W	R	-	1	2	PRX	45593839	.	.	0.150000	0.22450	0.613000	0.37349	.	.	0.375000	0.24679	0.655000	0.94253	CGG		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		53	96	0	0	0	1	0	53	96				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	105	0	0	0	1	0	4	105				
TSKS	60385	broad.mit.edu	37	19	50243411	50243411	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:50243411G>A	ENST00000246801.3	-	10	1609	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	TSKS_ENST00000358830.3_Silent_p.H309H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	509					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCCTGACGTGTTTGGCTA	0.647																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1525-1527)caC>caT		testis-specific serine kinase substrate							50.0	53.0	52.0					19																	50243411		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50243411G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1527C>T	19.37:g.50243411G>A						TSKS_ENST00000358830.3_Silent_p.H309H	p.H509H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1609	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	509					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1527C>T	CCDS12780.1																																																																																				0.647	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		27	35	0	0	0	1	0	27	35				
ARPC1B	10095	broad.mit.edu	37	7	98984335	98984335	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:98984335A>T	ENST00000451682.1	+	5	401	c.92A>T	c.(91-93)gAg>gTg	p.E31V	ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V|ARPC1A_ENST00000432884.2_Nonstop_Mutation_p.*346C|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	31					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACAACCATGAGGTGCATATC	0.567																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(1036-1038)tgA>tgT		actin related protein 2/3 complex, subunit 1A, 41kDa							194.0	165.0	175.0					7																	98984335		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98984335A>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.92A>T	7.37:g.98984335A>T	ENSP00000389631:p.Glu31Val					ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR	p.*346C			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		13	1499	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		0					Q9BU00	Nonstop_Mutation	SNP	ENST00000451682.1	37	c.1038A>T	CCDS5661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.13|14.13	2.442412|2.442412	0.43326|0.43326	.|.	.|.	ENSG00000130429|ENSG00000241685	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682|ENST00000432884	T;T;T;T;T;T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.	5.17|5.17	4.02|4.02	0.46733|0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.052206|.	0.85682|.	D|.	0.000000|.	T|.	0.64875|.	0.2638|.	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P;P|.	0.49358|.	0.923;0.923|.	P;P|.	0.58077|.	0.832;0.832|.	T|.	0.62882|.	-0.6760|.	10|.	0.38643|.	T|.	0.18|.	-57.5756|-57.5756	11.006|11.006	0.47635|0.47635	0.9262:0.0:0.0738:0.0|0.9262:0.0:0.0738:0.0	.|.	31;31|.	A4D275;O15143|.	.;ARC1B_HUMAN|.	V|C	31|346	ENSP00000413173:E31V;ENSP00000398620:E31V;ENSP00000252725:E31V;ENSP00000410238:E31V;ENSP00000413067:E31V;ENSP00000403324:E31V;ENSP00000398110:E31V;ENSP00000403211:E31V;ENSP00000388802:E31V;ENSP00000389631:E31V|.	ENSP00000252725:E31V|.	E|X	+|+	2|3	0|0	ARPC1B|ARPC1A	98822271|98822271	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.569000|0.569000	0.35902|0.35902	9.339000|9.339000	0.96797|0.96797	0.923000|0.923000	0.37045|0.37045	0.459000|0.459000	0.35465|0.35465	GAG|TGA		0.567	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		36	142	0	0	0	1	0	36	142				
MYH13	8735	broad.mit.edu	37	17	10204939	10204939	+	Missense_Mutation	SNP	C	C	T	rs371179959		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:10204939C>T	ENST00000418404.3	-	39	5912	c.5749G>A	c.(5749-5751)Gct>Act	p.A1917T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1917					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGACTCAGCGATGTCCGCC	0.602																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5749-5751)Gct>Act		myosin, heavy chain 13, skeletal muscle		C	THR/ALA	0,4406		0,0,2203	92.0	98.0	96.0		5749	3.8	0.2	17		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH13	NM_003802.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1917/1939	10204939	1,13005	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10204939C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5749G>A	17.37:g.10204939C>T	ENSP00000404570:p.Ala1917Thr					MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T|MYH13_ENST00000570743.1_Missense_Mutation_p.A1917T	p.A1917T			Q9UKX3	MYH13_HUMAN			39	5912	-			1917					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5749G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583394	0.65992	0.0	1.16E-4	ENSG00000006788	ENST00000252172	D	0.81499	-1.5	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.93344	0.7878	H	0.98027	4.13	0.48236	D	0.999615	D	0.76494	0.999	D	0.75484	0.986	D	0.96037	0.9021	9	0.87932	D	0	.	16.1271	0.81402	0.0:1.0:0.0:0.0	.	1917	Q9UKX3	MYH13_HUMAN	T	1917	ENSP00000252172:A1917T	ENSP00000252172:A1917T	A	-	1	0	MYH13	10145664	1.000000	0.71417	0.167000	0.22817	0.091000	0.18340	7.564000	0.82326	2.097000	0.63578	0.484000	0.47621	GCT		0.602	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		4	108	0	0	0	1	0	4	108				
HR	55806	broad.mit.edu	37	8	21986639	21986639	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:21986639C>A	ENST00000381418.4	-	2	1525	c.45G>T	c.(43-45)gaG>gaT	p.E15D	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	15					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCCGTCTTCTCCCAGGTTG	0.657																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(43-45)gaG>gaT		hair growth associated							90.0	94.0	93.0					8																	21986639		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986639C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.45G>T	8.37:g.21986639C>A	ENSP00000370826:p.Glu15Asp					HR_ENST00000312841.8_Missense_Mutation_p.E15D	p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1525	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	15					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.45G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339019	0.60963	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.75260	-0.91;-0.92	4.8	3.9	0.45041	.	0.150937	0.30742	N	0.008965	T	0.61751	0.2372	L	0.34521	1.04	0.28424	N	0.917588	D;P;P	0.55385	0.971;0.948;0.612	B;B;B	0.42030	0.373;0.373;0.138	T	0.63906	-0.6531	10	0.87932	D	0	-15.4411	9.1864	0.37174	0.0:0.8983:0.0:0.1017	.	15;15;15	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	D	15	ENSP00000370826:E15D;ENSP00000326765:E15D	ENSP00000326765:E15D	E	-	3	2	HR	22042584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.627000	0.37050	2.492000	0.84095	0.561000	0.74099	GAG		0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	78	1	0	0.150653	1	0.154328	4	78				
EPB41L2	2037	broad.mit.edu	37	6	131215489	131215489	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:131215489G>C	ENST00000337057.3	-	10	1663	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	494	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTACCTGTAGAAAGTATGAT	0.493																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1480-1482)ttC>ttG		erythrocyte membrane protein band 4.1-like 2							143.0	141.0	141.0					6																	131215489		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131215489G>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1482C>G	6.37:g.131215489G>C	ENSP00000338481:p.Phe494Leu					EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L	p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	10	1663	-	Breast(56;0.0639)		494			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1482C>G	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599084	0.87055	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	4.5	0.54988	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.997;0.997;0.993	D	0.93055	0.6469	10	0.87932	D	0	.	10.4557	0.44548	0.1615:0.0:0.8385:0.0	.	494;494;494;494;494	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	L	494	ENSP00000434308:F494L;ENSP00000434576:F494L;ENSP00000402041:F494L;ENSP00000338481:F494L;ENSP00000376222:F494L;ENSP00000357110:F494L;ENSP00000436348:F494L;ENSP00000432803:F494L;ENSP00000431988:F494L;ENSP00000431647:F494L;ENSP00000436641:F494L	ENSP00000338481:F494L	F	-	3	2	EPB41L2	131257182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.569000	0.53827	1.205000	0.43262	0.655000	0.94253	TTC		0.493	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			4	160	0	0	0	1	0	4	160				
LARP1	23367	broad.mit.edu	37	5	154190842	154190842	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:154190842A>G	ENST00000336314.4	+	17	2672	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	960					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACTACAGTTATGGCCTGGAA	0.448																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2647-2649)tAt>tGt		La ribonucleoprotein domain family, member 1							124.0	117.0	119.0					5																	154190842		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154190842A>G	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2648A>G	5.37:g.154190842A>G	ENSP00000336721:p.Tyr883Cys						p.Y883C	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2672	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	960					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2648A>G	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857025	0.91433	.	.	ENSG00000155506	ENST00000336314	T	0.35421	1.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76761	-0.2840	10	0.87932	D	0	-9.2141	16.5763	0.84648	1.0:0.0:0.0:0.0	.	960;883	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	C	883	ENSP00000336721:Y883C	ENSP00000336721:Y883C	Y	+	2	0	LARP1	154171035	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	9.262000	0.95591	2.317000	0.78254	0.459000	0.35465	TAT		0.448	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		3	62	0	0	0	1	0	3	62				
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		2	4						2	4	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			3	4						3	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939883	76939883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:76939883delG	ENST00000373344.5	-	9	1079	c.865delC	c.(865-867)cagfs	p.Q289fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	289	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TGCAACAACTGTTCTAAATTC	0.348			"""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.(865-867)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						142.0	133.0	136.0					X																	76939883		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939883delG	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.865delC	X.37:g.76939883delG	ENSP00000362441:p.Gln289fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	p.Q289fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1079	-			289			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.865delC	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		118	193						118	193	---	---	---	---
