#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	8	0	0	0	1	0	5	8				
HYDIN	54768	broad.mit.edu	37	16	70908255	70908255	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:70908255T>G	ENST00000393567.2	-	64	11051	c.10901A>C	c.(10900-10902)gAg>gCg	p.E3634A	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3634					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTGTGAACTCAGAGATACT	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10900-10902)gAg>gCg		HYDIN, axonemal central pair apparatus protein							114.0	127.0	123.0					16																	70908255		1967	4161	6128	SO:0001583	missense	54768							g.chr16:70908255T>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10901A>C	16.37:g.70908255T>G	ENSP00000377197:p.Glu3634Ala						p.E3634A	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			64	11051	-		Ovarian(137;0.0654)	3634					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10901A>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177887	0.38413	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00912	5.55	3.95	3.95	0.45737	.	.	.	.	.	T	0.01222	0.0040	L	0.60455	1.87	0.80722	D	1	B	0.33318	0.408	B	0.30782	0.12	T	0.63550	-0.6612	9	0.14656	T	0.56	.	10.4546	0.44542	0.0:0.0:0.0:1.0	.	3633	F8WD23	.	A	3634;3633	ENSP00000377197:E3634A	ENSP00000313052:E3633A	E	-	2	0	HYDIN	69465756	0.577000	0.26708	0.384000	0.26145	0.038000	0.13279	2.225000	0.42954	1.634000	0.50500	0.418000	0.28097	GAG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			22	94	0	0	0	1	0	22	94				
RBM14	10432	broad.mit.edu	37	11	66384329	66384329	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:66384329G>A	ENST00000310137.4	+	1	277	c.138G>A	c.(136-138)gcG>gcA	p.A46A	RBM4_ENST00000503028.2_5'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.A46A|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000393979.3_Silent_p.A46A|RBM14_ENST00000409372.1_Silent_p.A46A|RBM4_ENST00000514361.3_Silent_p.A46A|RBM14_ENST00000409738.4_Silent_p.A46A|RBM14_ENST00000443702.1_Silent_p.A46A|RBM14-RBM4_ENST00000500635.2_Silent_p.A46A	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	46	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGAGAACGCGGGCGCGCTGC	0.677																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(136-138)gcG>gcA		RNA binding motif protein 14							30.0	33.0	32.0					11																	66384329		2199	4292	6491	SO:0001819	synonymous_variant	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66384329G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.138G>A	11.37:g.66384329G>A						RBM14_ENST00000409738.4_Silent_p.A46A|RBM4_ENST00000514361.3_Silent_p.A46A|RBM14_ENST00000393979.3_Silent_p.A46A|RBM14_ENST00000443702.1_Silent_p.A46A|RBM4_ENST00000503028.2_5'UTR|RBM14-RBM4_ENST00000500635.2_Silent_p.A46A|RBM14-RBM4_ENST00000412278.2_Silent_p.A46A|RBM14_ENST00000409372.1_Silent_p.A46A	p.A46A	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			1	277	+			46			RRM 1.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	c.138G>A	CCDS8147.1																																																																																				0.677	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		43	93	0	0	0	1	0	43	93				
KCNH4	23415	broad.mit.edu	37	17	40318406	40318406	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:40318406C>T	ENST00000264661.3	-	10	2081	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	KCNH4_ENST00000607371.1_Silent_p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	583					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACGGCGCAACAGGTACTCGC	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1747-1749)ctG>ctA		potassium voltage-gated channel, subfamily H (eag-related), member 4							62.0	56.0	58.0					17																	40318406		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318406C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1749G>A	17.37:g.40318406C>T						KCNH4_ENST00000607371.1_Silent_p.L583L	p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2081	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	583						Silent	SNP	ENST00000264661.3	37	c.1749G>A	CCDS11420.1																																																																																				0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	27	0	0	0	1	0	9	27				
SSB	6741	broad.mit.edu	37	2	170667453	170667453	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:170667453A>G	ENST00000409333.1	+	10	1143	c.896A>G	c.(895-897)aAa>aGa	p.K299R	METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Missense_Mutation_p.K299R			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	299					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTAAGGAACAAAGAAGTGACT	0.363																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(895-897)aAa>aGa		Sjogren syndrome antigen B (autoantigen La)							77.0	81.0	80.0					2																	170667453		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667453A>G		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.896A>G	2.37:g.170667453A>G	ENSP00000386636:p.Lys299Arg					SSB_ENST00000260956.4_Missense_Mutation_p.K299R|METTL5_ENST00000409837.1_Intron	p.K299R			P05455	LA_HUMAN			10	1143	+			299					Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.896A>G	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932189	0.52866	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	T;T	0.41758	0.99;0.99	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);	0.147698	0.64402	D	0.000013	T	0.48390	0.1497	M	0.66939	2.045	0.80722	D	1	B;B	0.31009	0.162;0.303	B;B	0.39094	0.213;0.29	T	0.47497	-0.9113	10	0.36615	T	0.2	-21.886	14.9256	0.70875	1.0:0.0:0.0:0.0	.	299;299	E9PFH8;P05455	.;LA_HUMAN	R	299	ENSP00000260956:K299R;ENSP00000386636:K299R	ENSP00000260956:K299R	K	+	2	0	SSB	170375699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.983000	0.56916	1.999000	0.58509	0.383000	0.25322	AAA		0.363	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		12	51	0	0	0	1	0	12	51				
ACTN1	87	broad.mit.edu	37	14	69392326	69392326	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69392326C>G	ENST00000193403.6	-	2	552	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000376839.3_5'UTR	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	57	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGAAGTCCTCTTCGATGTTC	0.587																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(169-171)Gag>Cag		actinin, alpha 1							144.0	103.0	117.0					14																	69392326		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69392326C>G	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.169G>C	14.37:g.69392326C>G	ENSP00000193403:p.Glu57Gln					ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000376839.3_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q	p.E57Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	552	-			57			Actin-binding.|CH 1.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.169G>C	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834810	0.71373	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000538545;ENST00000556433;ENST00000556571;ENST00000553659	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.85	4.85	0.62838	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	L	0.33792	1.035	0.80722	D	1	B;B;B;B	0.25955	0.138;0.016;0.138;0.093	B;B;B;B	0.34242	0.08;0.033;0.08;0.178	D	0.90008	0.4119	10	0.48119	T	0.1	.	16.8934	0.86093	0.0:1.0:0.0:0.0	.	57;57;57;57	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	Q	57;57;57;57;36;34;56	ENSP00000193403:E57Q;ENSP00000377941:E57Q;ENSP00000414272:E57Q;ENSP00000439828:E57Q;ENSP00000450764:E36Q;ENSP00000452423:E34Q;ENSP00000451086:E56Q	ENSP00000193403:E57Q	E	-	1	0	ACTN1	68462079	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.343000	0.79319	2.505000	0.84491	0.563000	0.77884	GAG		0.587	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		19	52	0	0	0	1	0	19	52				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	58	0	0	0	1	0	3	58				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	23	0	0	0	1	0	3	23				
HAO2	51179	broad.mit.edu	37	1	119929246	119929246	+	Splice_Site	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:119929246G>A	ENST00000325945.3	+	5	636	c.563G>A	c.(562-564)gGa>gAa	p.G188E	HAO2_ENST00000361035.4_Splice_Site_p.G201E	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	188	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTCCTATAGGGAAATGCAATA	0.418																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.e6-1		hydroxyacid oxidase 2 (long chain)							97.0	96.0	96.0					1																	119929246		2203	4300	6503	SO:0001630	splice_region_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119929246G>A	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.562-1G>A	1.37:g.119929246G>A						HAO2_ENST00000325945.3_Splice_Site_p.G188_splice	p.G201_splice	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	6	885	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	188			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Splice_Site	SNP	ENST00000325945.3	37	c.600_splice	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520228	0.27211	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.30714	1.52;1.61;1.61	5.13	-0.672	0.11377	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.771754	0.12408	N	0.471547	T	0.05044	0.0135	N	0.20881	0.62	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.40739	-0.9547	9	.	.	.	1.4463	3.3492	0.07146	0.2699:0.1145:0.4991:0.1165	.	188	Q9NYQ3	HAOX2_HUMAN	E	163;201;188	ENSP00000393955:G163E;ENSP00000354314:G201E;ENSP00000316339:G188E	.	G	+	2	0	HAO2	119730769	0.819000	0.29175	0.011000	0.14972	0.155000	0.21991	0.858000	0.27845	0.018000	0.15052	0.655000	0.94253	GGA		0.418	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783	Missense_Mutation	9	59	0	0	0	1	0	9	59				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		6	38	0	0	0	1	0	6	38				
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1783-1785)ttA>ttG		progesterone immunomodulatory binding factor 1							50.0	51.0	51.0					13																	73505357		2203	4298	6501	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73505357A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1785A>G	13.37:g.73505357A>G							p.L595L	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2123	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	595					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.1785A>G	CCDS31991.1																																																																																				0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		5	26	0	0	0	1	0	5	26				
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTTGTCACACAAAAGAACTGT	0.328			"""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.(4837-4839)tTg>tAg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						40.0	37.0	38.0					X																	76889172		2202	4295	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889172A>T	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.4838T>A	X.37:g.76889172A>T	ENSP00000362441:p.Leu1613*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	p.L1613*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5052	-			1613			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4838T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	47	13.104150	0.99720	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.806	14.7118	0.69238	1.0:0.0:0.0:0.0	.	.	.	.	X	1613;1575	.	ENSP00000362441:L1613X	L	-	2	0	ATRX	76775828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.880000	0.92407	1.924000	0.55735	0.481000	0.45027	TTG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	32	0	0	0	1	0	14	32				
STAG2	10735	broad.mit.edu	37	X	123200103	123200103	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123200103G>T	ENST00000371160.1	+	22	2465	c.2175G>T	c.(2173-2175)atG>atT	p.M725I	STAG2_ENST00000371144.3_Missense_Mutation_p.M725I|STAG2_ENST00000371145.3_Missense_Mutation_p.M725I|STAG2_ENST00000354548.5_Missense_Mutation_p.M656I|STAG2_ENST00000371157.3_Missense_Mutation_p.M725I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M725I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	725					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGGAGACATGCCTGAGCAGG	0.294																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2173-2175)atG>atT		stromal antigen 2							93.0	98.0	96.0					X																	123200103		2202	4297	6499	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200103G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2175G>T	X.37:g.123200103G>T	ENSP00000360202:p.Met725Ile					STAG2_ENST00000218089.9_Missense_Mutation_p.M725I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.M725I|STAG2_ENST00000371145.3_Missense_Mutation_p.M725I|STAG2_ENST00000354548.5_Missense_Mutation_p.M656I|STAG2_ENST00000371144.3_Missense_Mutation_p.M725I	p.M725I			Q8N3U4	STAG2_HUMAN			22	2465	+			725					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2175G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649857	0.47362	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.28552	0.082;0.215	B;B	0.29353	0.036;0.101	T	0.04454	-1.0950	10	0.34782	T	0.22	-7.4846	18.992	0.92796	0.0:0.0:1.0:0.0	.	725;725	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	725;656;725;725;725;725	ENSP00000218089:M725I;ENSP00000346555:M656I;ENSP00000360202:M725I;ENSP00000360199:M725I;ENSP00000360187:M725I;ENSP00000360186:M725I	ENSP00000218089:M725I	M	+	3	0	STAG2	123027784	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.863000	0.87023	2.433000	0.82419	0.600000	0.82982	ATG		0.294	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		21	103	1	0	2.70639e-06	1	2.84308e-06	21	103				
TMEM109	79073	broad.mit.edu	37	11	60687374	60687374	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60687374G>T	ENST00000227525.3	+	2	612	c.209G>T	c.(208-210)gGg>gTg	p.G70V	TMEM109_ENST00000536171.1_Missense_Mutation_p.G70V|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	70					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCTGGATTGGGCCAGAGACC	0.507																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(208-210)gGg>gTg		transmembrane protein 109							105.0	101.0	103.0					11																	60687374		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687374G>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.209G>T	11.37:g.60687374G>T	ENSP00000227525:p.Gly70Val					TMEM109_ENST00000536171.1_Missense_Mutation_p.G70V|RP11-881M11.4_ENST00000543907.1_RNA	p.G70V	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			2	612	+			70						Missense_Mutation	SNP	ENST00000227525.3	37	c.209G>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847540	0.71603	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.77025	0.4070	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79196	-0.1903	9	0.87932	D	0	-35.8342	15.9703	0.80008	0.0:0.0:1.0:0.0	.	70	Q9BVC6	TM109_HUMAN	V	70	.	ENSP00000227525:G70V	G	+	2	0	TMEM109	60443950	1.000000	0.71417	0.918000	0.36340	0.737000	0.42083	5.434000	0.66526	2.489000	0.83994	0.563000	0.77884	GGG		0.507	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		13	103	1	0	4.36969e-10	1	4.63722e-10	13	103				
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CATTCACCAGAGGGTCCCCTG	0.488																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(640-642)agA>agC		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						126.0	124.0	125.0					8																	19811731		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811731A>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.642A>C	8.37:g.19811731A>C	ENSP00000309757:p.Arg214Ser						p.R214S	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1112	+			214					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.642A>C	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528628	0.64860	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.90324	-2.65	6.17	-1.84	0.07809	Lipase, N-terminal (1);	0.084191	0.85682	N	0.000000	D	0.90546	0.7037	L	0.46567	1.45	0.41022	D	0.985081	D	0.89917	1.0	D	0.97110	1.0	D	0.87592	0.2491	8	.	.	.	-35.532	6.6252	0.22826	0.4349:0.0:0.4364:0.1287	.	214	P06858	LIPL_HUMAN	S	214;138;200	ENSP00000309757:R214S	.	R	+	3	2	LPL	19856011	0.996000	0.38824	0.977000	0.42913	0.411000	0.31082	0.383000	0.20651	-0.536000	0.06298	-0.250000	0.11733	AGA		0.488	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			42	93	0	0	0	1	0	42	93				
NAV3	89795	broad.mit.edu	37	12	78593244	78593244	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:78593244G>C	ENST00000397909.2	+	37	6821	c.6648G>C	c.(6646-6648)tgG>tgC	p.W2216C	NAV3_ENST00000266692.7_Missense_Mutation_p.W2017C|NAV3_ENST00000536525.2_Missense_Mutation_p.W2194C|NAV3_ENST00000541270.1_Missense_Mutation_p.W46C|NAV3_ENST00000228327.6_Missense_Mutation_p.W2194C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2216						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTATAGATTGGATTCCGAAGA	0.358										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6646-6648)tgG>tgC		neuron navigator 3							111.0	110.0	110.0					12																	78593244		1854	4095	5949	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593244G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6648G>C	12.37:g.78593244G>C	ENSP00000381007:p.Trp2216Cys	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.W2194C|NAV3_ENST00000266692.7_Missense_Mutation_p.W2017C|NAV3_ENST00000541270.1_Missense_Mutation_p.W46C|NAV3_ENST00000536525.2_Missense_Mutation_p.W2194C	p.W2216C			Q8IVL0	NAV3_HUMAN			37	6821	+			2216					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6648G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594755|4.594755	0.86953|0.86953	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895;ENST00000551162|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	.|T;T;T;T;T	.|0.61274	.|0.59;0.58;0.57;0.68;0.12	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.38272	.|U	.|0.001742	T|T	0.81479|0.81479	0.4831|0.4831	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.998;0.999	D|D	0.83807|0.83807	0.0239|0.0239	5|10	.|0.87932	.|D	.|0	-8.4203|-8.4203	20.2245|20.2245	0.98337|0.98337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2194;2017;2216;2194	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	H|C	1089;84|2194;2216;2194;2017;46	.|ENSP00000446132:W2194C;ENSP00000381007:W2216C;ENSP00000228327:W2194C;ENSP00000266692:W2017C;ENSP00000444918:W46C	.|ENSP00000228327:W2194C	D|W	+|+	1|3	0|0	NAV3|NAV3	77117375|77117375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.358	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	82	0	0	0	1	0	14	82				
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																						ENST00000557932.1																			3	Substitution - Missense(3)	p.L386V(3)	prostate(2)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515335C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G														0	1181	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		8	46	0	0	0	1	0	8	46				
PCOLCE2	26577	broad.mit.edu	37	3	142542416	142542416	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:142542416G>A	ENST00000295992.3	-	7	1213	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	303	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCCCCGTCCGTCTACACTTT	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(907-909)Cgg>Tgg		procollagen C-endopeptidase enhancer 2							81.0	86.0	84.0					3																	142542416		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142542416G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.907C>T	3.37:g.142542416G>A	ENSP00000295992:p.Arg303Trp					PCOLCE2_ENST00000485766.1_Intron	p.R303W	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			7	1213	-			303			NTR.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.907C>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641206	0.47153	.	.	ENSG00000163710	ENST00000295992	T	0.32272	1.46	5.41	3.5	0.40072	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.81497	2.545	0.80722	D	1	P	0.35684	0.515	B	0.30572	0.117	T	0.23440	-1.0188	10	0.51188	T	0.08	-13.0548	8.661	0.34093	0.0849:0.0:0.7265:0.1886	.	303	Q9UKZ9	PCOC2_HUMAN	W	303	ENSP00000295992:R303W	ENSP00000295992:R303W	R	-	1	2	PCOLCE2	144025106	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	1.824000	0.39072	1.515000	0.48885	0.655000	0.94253	CGG		0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		15	50	0	0	0	1	0	15	50				
AFF2	2334	broad.mit.edu	37	X	148072840	148072840	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:148072840G>A	ENST00000370460.2	+	21	4393	c.3914G>A	c.(3913-3915)cGc>cAc	p.R1305H	AFF2_ENST00000286437.5_Missense_Mutation_p.R946H|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270H|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R1305L(2)|p.R946L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTGGCTGCGCATCGATGCC	0.547																																						ENST00000370460.2																			3	Substitution - Missense(3)	p.R1305L(2)|p.R946L(1)	central_nervous_system(3)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3913-3915)cGc>cAc		AF4/FMR2 family, member 2							244.0	163.0	191.0					X																	148072840		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072840G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3914G>A	X.37:g.148072840G>A	ENSP00000359489:p.Arg1305His					AFF2_ENST00000286437.5_Missense_Mutation_p.R946H|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272H|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270H	p.R1305H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4393	+	Acute lymphoblastic leukemia(192;6.56e-05)		1305					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3914G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363614	0.82353	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	L	0.60957	1.885	0.58432	D	0.999998	P;P;P;P;P;P	0.52577	0.954;0.777;0.777;0.901;0.901;0.919	P;B;B;B;B;B	0.58620	0.842;0.428;0.428;0.232;0.232;0.343	T	0.80901	-0.1175	10	0.87932	D	0	.	13.7207	0.62725	0.0781:0.0:0.9219:0.0	.	946;1270;1270;1266;1295;1305	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	1305;1270;1272;946	ENSP00000359489:R1305H;ENSP00000359486:R1270H;ENSP00000345459:R1272H;ENSP00000286437:R946H	ENSP00000286437:R946H	R	+	2	0	AFF2	147880546	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.849000	0.86908	2.279000	0.76181	0.594000	0.82650	CGC		0.547	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		23	125	0	0	0	1	0	23	125				
OTX2	5015	broad.mit.edu	37	14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	ENST00000555006.1	-	3	643	c.235G>A	c.(235-237)Gag>Aag	p.E79K	OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000339475.5_Missense_Mutation_p.E87K|OTX2_ENST00000408990.3_Missense_Mutation_p.E79K			P32243	OTX2_HUMAN	orthodenticle homeobox 2	79					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(259-261)Gag>Aag		orthodenticle homeobox 2							90.0	74.0	80.0					14																	57270920		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57270920C>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.235G>A	14.37:g.57270920C>T	ENSP00000452336:p.Glu79Lys					OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000555006.1_Missense_Mutation_p.E79K	p.E87K	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			4	535	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		79					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.259G>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715279	0.96830	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.82	5.82	0.92795	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.44688	D	0.000431	D	0.98811	0.9599	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99537	1.0962	10	0.87932	D	0	.	17.603	0.88030	0.0:1.0:0.0:0.0	.	87;79	F1T0D1;P32243	.;OTX2_HUMAN	K	87;79;79;87;79	ENSP00000343819:E87K;ENSP00000386185:E79K;ENSP00000452336:E79K;ENSP00000451357:E87K;ENSP00000451272:E79K	ENSP00000343819:E87K	E	-	1	0	OTX2	56340673	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.805000	0.86005	2.745000	0.94114	0.655000	0.94253	GAG		0.572	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		12	61	0	0	0	1	0	12	61				
TMEM109	79073	broad.mit.edu	37	11	60687373	60687373	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60687373G>T	ENST00000227525.3	+	2	611	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	TMEM109_ENST00000536171.1_Missense_Mutation_p.G70W|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	70					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGCCTGGATTGGGCCAGAGAC	0.502																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(208-210)Ggg>Tgg		transmembrane protein 109							105.0	102.0	103.0					11																	60687373		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687373G>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.208G>T	11.37:g.60687373G>T	ENSP00000227525:p.Gly70Trp					TMEM109_ENST00000536171.1_Missense_Mutation_p.G70W|RP11-881M11.4_ENST00000543907.1_RNA	p.G70W	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			2	611	+			70						Missense_Mutation	SNP	ENST00000227525.3	37	c.208G>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788089	0.70337	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.77025	0.4070	M	0.63843	1.955	0.43622	D	0.996008	D	0.89917	1.0	D	0.97110	1.0	T	0.79196	-0.1903	9	0.87932	D	0	-35.8342	15.9703	0.80008	0.0:0.0:1.0:0.0	.	70	Q9BVC6	TM109_HUMAN	W	70	.	ENSP00000227525:G70W	G	+	1	0	TMEM109	60443949	1.000000	0.71417	0.914000	0.36105	0.744000	0.42396	5.434000	0.66526	2.489000	0.83994	0.563000	0.77884	GGG		0.502	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		13	104	1	0	4.36969e-10	1	4.63722e-10	13	104				
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1339-1341)Act>Gct		egf-like module containing, mucin-like, hormone receptor-like 3							155.0	117.0	130.0					19																	14749062		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14749062T>C	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1339A>G	19.37:g.14749062T>C	ENSP00000253673:p.Thr447Ala					EMR3_ENST00000599900.1_Missense_Mutation_p.T232A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000344373.4_Missense_Mutation_p.T395A	p.T447A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			11	1439	-			447						Missense_Mutation	SNP	ENST00000253673.5	37	c.1339A>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	7.099	0.573713	0.13623	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.24723	1.84;1.84;1.84	4.34	2.25	0.28309	GPCR, family 2-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.31526	0.94	0.24908	N	0.992064	P;P;P	0.45902	0.655;0.828;0.868	P;B;P	0.52758	0.534;0.365;0.708	T	0.10291	-1.0636	9	0.72032	D	0.01	.	7.1925	0.25834	0.0:0.1875:0.0:0.8125	.	321;395;447	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	A	321;447;395	ENSP00000396208:T321A;ENSP00000253673:T447A;ENSP00000340758:T395A	ENSP00000253673:T447A	T	-	1	0	EMR3	14610062	1.000000	0.71417	0.743000	0.31040	0.002000	0.02628	2.421000	0.44688	0.225000	0.20959	-0.924000	0.02725	ACT		0.572	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		22	94	0	0	0	1	0	22	94				
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1873-1875)Gtc>Atc		mediator complex subunit 15							145.0	125.0	132.0					22																	20939211		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939211G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1873G>A	22.37:g.20939211G>A	ENSP00000263205:p.Val625Ile					MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I	p.V625I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	1942	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	625					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1873G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010261	0.75046	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.72	4.72	0.59763	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.45422	1.42	0.80722	D	1	D;P;P;P;P;P	0.56287	0.975;0.883;0.789;0.858;0.939;0.883	P;B;B;B;B;B	0.47251	0.542;0.241;0.2;0.155;0.406;0.241	T	0.63629	-0.6594	9	0.87932	D	0	.	15.183	0.72975	0.0:0.0:1.0:0.0	.	555;604;241;559;585;625	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	I	474;585;625;559;514;559;555	.	ENSP00000263205:V625I	V	+	1	0	MED15	19269211	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	6.273000	0.72581	2.180000	0.69256	0.561000	0.74099	GTC		0.632	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		56	138	0	0	0	1	0	56	138				
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197). {ECO:0000269|PubMed:15489334}.		ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(475-477)ctT>ctG		osteoclast stimulating factor 1							172.0	146.0	155.0					9																	77752522		2203	4300	6503	SO:0001819	synonymous_variant	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77752522T>G	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.477T>G	9.37:g.77752522T>G							p.L159L	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			8	627	+			159		L -> F (in dbSNP:rs17850197).			Q5W126|Q96IJ4	Silent	SNP	ENST00000346234.6	37	c.477T>G	CCDS6651.1																																																																																				0.388	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		11	27	0	0	0	1	0	11	27				
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000479441.1	-	9	860	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000435965.1_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTGGGTGACGAGGCCCCCT	0.567																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(859-861)tcG>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						141.0	121.0	128.0					3																	50417431		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417431C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.861G>A	3.37:g.50417431C>T						CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000266039.3_Silent_p.S287S	p.S287S			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	9	1034	-			287					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.861G>A	CCDS54588.1																																																																																				0.567	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		18	46	0	0	0	1	0	18	46				
DCAF5	8816	broad.mit.edu	37	14	69584991	69584991	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69584991C>T	ENST00000341516.5	-	4	547	c.400G>A	c.(400-402)Gag>Aag	p.E134K	DCAF5_ENST00000389997.6_Missense_Mutation_p.E134K|DCAF5_ENST00000554215.1_Missense_Mutation_p.E52K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E52K|DCAF5_ENST00000557386.1_Splice_Site_p.E133K|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	134					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCCAATGTCTCACTGCTGGGA	0.488																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(400-402)Gag>Aag		DDB1 and CUL4 associated factor 5							115.0	90.0	98.0					14																	69584991		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69584991C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.400G>A	14.37:g.69584991C>T	ENSP00000341351:p.Glu134Lys					DCAF5_ENST00000554215.1_Missense_Mutation_p.E52K|DCAF5_ENST00000389997.6_Missense_Mutation_p.E134K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E52K|DCAF5_ENST00000557386.1_Splice_Site_p.E133_splice	p.E134K	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			4	547	-			134					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.400G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182939	0.78677	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.27890	1.69;1.69;1.69;1.64;1.69;1.64	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.25647	0.755	0.80722	D	1	P;P;B	0.39624	0.457;0.681;0.342	B;B;B	0.38500	0.146;0.275;0.092	T	0.01608	-1.1313	10	0.29301	T	0.29	-14.9282	19.8978	0.96973	0.0:1.0:0.0:0.0	.	134;133;134	Q8TBB7;G3V4J7;Q96JK2	.;.;DCAF5_HUMAN	K	134;52;52;133;134;51	ENSP00000341351:E134K;ENSP00000451551:E52K;ENSP00000452052:E52K;ENSP00000451845:E133K;ENSP00000374647:E134K;ENSP00000451394:E51K	ENSP00000341351:E134K	E	-	1	0	DCAF5	68654744	1.000000	0.71417	0.989000	0.46669	0.962000	0.63368	7.487000	0.81328	2.703000	0.92315	0.557000	0.71058	GAG		0.488	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		14	30	0	0	0	1	0	14	30				
NDFIP2	54602	broad.mit.edu	37	13	80107548	80107548	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:80107548A>T	ENST00000218652.7	+	3	630	c.578A>T	c.(577-579)aAa>aTa	p.K193I		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	193					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GAGAAGGCTAAAGCTGCTGCA	0.388																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(577-579)aAa>aTa		Nedd4 family interacting protein 2							54.0	50.0	51.0					13																	80107548		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80107548A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.578A>T	13.37:g.80107548A>T	ENSP00000218652:p.Lys193Ile						p.K193I	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	3	630	+		Acute lymphoblastic leukemia(28;0.205)	193					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.578A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857965	0.91433	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.54675	0.78;0.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76055	-0.3099	10	0.87932	D	0	-12.9143	14.5939	0.68392	1.0:0.0:0.0:0.0	.	99;193	B4DGY6;Q9NV92	.;NFIP2_HUMAN	I	193;110	ENSP00000218652:K193I;ENSP00000419200:K110I	ENSP00000218652:K193I	K	+	2	0	NDFIP2	79005549	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	AAA		0.388	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			5	43	0	0	0	1	0	5	43				
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(583-585)gGt>gCt		X-linked inhibitor of apoptosis							112.0	99.0	103.0					X																	123020096		2203	4300	6503	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123020096G>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.584G>C	X.37:g.123020096G>C	ENSP00000360242:p.Gly195Ala					XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	883	+			195					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.584G>C	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304603	0.23736	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.73681	-0.77;-0.77;-0.77	5.74	0.0126	0.14092	Baculoviral inhibition of apoptosis protein repeat (5);	0.576393	0.18138	N	0.150511	T	0.62938	0.2469	L	0.53561	1.675	0.09310	N	0.999999	B	0.20052	0.041	B	0.20767	0.031	T	0.49173	-0.8967	9	.	.	.	.	6.1416	0.20263	0.5:0.1319:0.3681:0.0	.	195	P98170	XIAP_HUMAN	A	195	ENSP00000395230:G195A;ENSP00000360242:G195A;ENSP00000347858:G195A	.	G	+	2	0	XIAP	122847777	0.104000	0.21937	0.996000	0.52242	0.984000	0.73092	0.570000	0.23653	0.007000	0.14760	-0.520000	0.04383	GGT		0.458	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		13	61	0	0	0	1	0	13	61				
SCN5A	6331	broad.mit.edu	37	3	38645348	38645348	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:38645348G>A	ENST00000333535.4	-	12	1894	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	SCN5A_ENST00000451551.2_Missense_Mutation_p.A582V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A582V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A582V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A582V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A582V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A582V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A582V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A582V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A582V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	582					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGGCCAGGAGCCGAGGTTCC	0.662																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1744-1746)gCt>gTt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						74.0	80.0	78.0					3																	38645348		2008	4173	6181	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645348G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1745C>T	3.37:g.38645348G>A	ENSP00000328968:p.Ala582Val					SCN5A_ENST00000333535.4_Missense_Mutation_p.A582V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A582V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A582V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A582V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A582V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A582V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A582V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A582V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A582V	p.A582V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1938	-	Medulloblastoma(35;0.163)		582					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1745C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	1.331	-0.596869	0.03771	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	3.46	1.54	0.23209	Domain of unknown function DUF3451 (1);	1.311900	0.04858	N	0.443541	T	0.71693	0.3370	N	0.03050	-0.425	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.002;0.004;0.002;0.002;0.002	T	0.63532	-0.6616	10	0.02654	T	1	.	7.6067	0.28105	0.0977:0.1651:0.7373:0.0	.	582;582;582;582;582;582;582	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	582	ENSP00000398962:A582V;ENSP00000398266:A582V;ENSP00000410257:A582V;ENSP00000388797:A582V;ENSP00000397915:A582V;ENSP00000416634:A582V;ENSP00000328968:A582V;ENSP00000399524:A582V;ENSP00000403355:A582V;ENSP00000413996:A582V	ENSP00000328968:A582V	A	-	2	0	SCN5A	38620352	0.646000	0.27295	0.013000	0.15412	0.361000	0.29550	1.663000	0.37429	0.647000	0.30713	0.561000	0.74099	GCT		0.662	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		28	204	0	0	0	1	0	28	204				
WHSC1L1	54904	broad.mit.edu	37	8	38172973	38172973	+	Silent	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:38172973T>C	ENST00000317025.8	-	11	2593	c.2076A>G	c.(2074-2076)agA>agG	p.R692R	WHSC1L1_ENST00000527502.1_Silent_p.R692R|WHSC1L1_ENST00000433384.2_Silent_p.R692R|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	692					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGTGCCTCTTCTCGACAAAC	0.428			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2074-2076)agA>agG		Wolf-Hirschhorn syndrome candidate 1-like 1							197.0	181.0	186.0					8																	38172973		1942	4151	6093	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38172973T>C	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2076A>G	8.37:g.38172973T>C						WHSC1L1_ENST00000527502.1_Silent_p.R692R|WHSC1L1_ENST00000433384.2_Silent_p.R692R	p.R692R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		11	2593	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	692					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.2076A>G	CCDS43729.1																																																																																				0.428	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		23	148	0	0	0	1	0	23	148				
NABP2	79035	broad.mit.edu	37	12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56622875T>C	ENST00000380198.2	+	6	1012	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P|SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.S172P			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	172	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCATACTCCCTCCCACCCACC	0.597																																						ENST00000380198.2																			0											c.(514-516)Tcc>Ccc		nucleic acid binding protein 2							22.0	25.0	24.0					12																	56622875		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622875T>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.514T>C	12.37:g.56622875T>C	ENSP00000369545:p.Ser172Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P	p.S172P							6	1012	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.514T>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.137846	0.21123	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.30448	1.53;1.53;1.53	5.17	-1.86	0.07760	.	0.651280	0.14048	N	0.344943	T	0.12050	0.0293	N	0.15975	0.35	0.21802	N	0.99954	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	.	.	.	-13.4254	2.1112	0.03703	0.1502:0.3954:0.155:0.2994	.	172	Q9BQ15	SOSB1_HUMAN	P	172	ENSP00000267023:S172P;ENSP00000369545:S172P;ENSP00000368862:S172P	.	S	+	1	0	OBFC2B	54909142	0.001000	0.12720	0.094000	0.20943	0.304000	0.27724	-0.479000	0.06567	-0.156000	0.11079	-0.313000	0.08912	TCC		0.597	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		6	19	0	0	0	1	0	6	19				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			13	56	0	0	0	1	0	13	56				
DENND1B	163486	broad.mit.edu	37	1	197611926	197611926	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:197611926G>A	ENST00000367396.3	-	10	756	c.587C>T	c.(586-588)gCc>gTc	p.A196V	DENND1B_ENST00000400967.2_Missense_Mutation_p.A166V|DENND1B_ENST00000235453.4_Missense_Mutation_p.A166V	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	196	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CACATCCACGGCAACAAAATA	0.378																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(496-498)gCc>gTc		DENN/MADD domain containing 1B							64.0	58.0	60.0					1																	197611926		1966	4218	6184	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197611926G>A	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.587C>T	1.37:g.197611926G>A	ENSP00000356366:p.Ala196Val					DENND1B_ENST00000367396.3_Missense_Mutation_p.A196V|DENND1B_ENST00000400967.2_Missense_Mutation_p.A166V	p.A166V			Q6P3S1	DEN1B_HUMAN			10	774	-			196			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.497C>T	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737387	0.69304	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.46	4.46	0.54185	DENN (3);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.86864	2.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.81914	0.994;0.995;0.873	T	0.47837	-0.9086	10	0.56958	D	0.05	-16.4919	17.4732	0.87652	0.0:0.0:1.0:0.0	.	196;196;166	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	V	196;176;166;196;166;140	ENSP00000235453:A166V;ENSP00000356366:A196V;ENSP00000383751:A166V;ENSP00000410025:A140V	ENSP00000235453:A166V	A	-	2	0	DENND1B	195878549	1.000000	0.71417	0.895000	0.35142	0.202000	0.24057	9.420000	0.97426	2.188000	0.69820	0.650000	0.86243	GCC		0.378	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		6	23	0	0	0	1	0	6	23				
MYH8	4626	broad.mit.edu	37	17	10304718	10304718	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:10304718T>A	ENST00000403437.2	-	24	3076	c.2982A>T	c.(2980-2982)aaA>aaT	p.K994N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	994					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGACAGTTTTGCAATGG	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2980-2982)aaA>aaT		myosin, heavy chain 8, skeletal muscle, perinatal							129.0	131.0	130.0					17																	10304718		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304718T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2982A>T	17.37:g.10304718T>A	ENSP00000384330:p.Lys994Asn					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.K994N	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			24	3076	-			994					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2982A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453574	0.63290	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93811	-3.29	5.65	3.62	0.41486	.	0.000000	0.43579	U	0.000560	D	0.97420	0.9156	H	0.97214	3.96	0.46149	D	0.998892	D	0.89917	1.0	D	0.72982	0.979	D	0.97109	0.9803	10	0.87932	D	0	.	8.7178	0.34423	0.0:0.7099:0.0:0.2901	.	994	P13535	MYH8_HUMAN	N	994	ENSP00000384330:K994N	ENSP00000252173:K994N	K	-	3	2	MYH8	10245443	0.999000	0.42202	1.000000	0.80357	0.922000	0.55478	0.758000	0.26447	1.601000	0.50113	-0.242000	0.12053	AAA		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		54	139	0	0	0	1	0	54	139				
ZAN	7455	broad.mit.edu	37	7	100350474	100350474	+	RNA	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:100350474T>C	ENST00000348028.3	+	0	2911				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S916P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCACGGAAAA	0.502																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.S916P(2)	kidney(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	380.0	365.0					7																	100350474		1868	4101	5969			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350474T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350474T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2894	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	3.601	-0.081651	0.07141	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;-0.03;-0.03	3.77	-0.348	0.12613	.	.	.	.	.	T	0.22282	0.0537	N	0.00368	-1.59	0.09310	N	0.999999	B;B	0.10296	0.003;0.0	B;B	0.14023	0.01;0.0	T	0.23655	-1.0182	9	0.30854	T	0.27	.	4.5056	0.11885	0.0:0.4441:0.1597:0.3962	.	916;916	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	916	ENSP00000445943:S916P;ENSP00000445091:S916P;ENSP00000444427:S916P	ENSP00000423579:S916P	S	+	1	0	ZAN	100188410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.053000	0.00045	-0.221000	0.09973	-0.220000	0.12472	TCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	203	0	0	0	1	0	6	203				
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000327087.8_Missense_Mutation_p.T792N|ANO2_ENST00000546188.1_Missense_Mutation_p.T793N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	797					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552																																						ENST00000356134.5																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2377-2379)aCc>aAc		anoctamin 2							89.0	94.0	92.0					12																	5687543		1979	4164	6143	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687543G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2378C>A	12.37:g.5687543G>T	ENSP00000348453:p.Thr793Asn					ANO2_ENST00000327087.8_Missense_Mutation_p.T792N|ANO2_ENST00000546188.1_Missense_Mutation_p.T793N	p.T793N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN			23	2449	-			797					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2378C>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.489852	0.44249	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.63255	-0.03;-0.03;-0.03	5.3	5.3	0.74995	.	0.060136	0.64402	D	0.000004	T	0.62696	0.2449	L	0.52011	1.625	0.41232	D	0.986584	P	0.39940	0.696	B	0.43838	0.433	T	0.67914	-0.5547	10	0.87932	D	0	.	14.4773	0.67554	0.0:0.0:0.8528:0.1472	.	792	Q9NQ90-3	.	N	792;793;793;797	ENSP00000314048:T792N;ENSP00000348453:T793N;ENSP00000440981:T793N	ENSP00000314048:T792N	T	-	2	0	ANO2	5557804	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.578000	0.67450	2.493000	0.84123	0.655000	0.94253	ACC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		12	74	1	0	0.00010058	1	0.000104603	12	74				
GRIN3A	116443	broad.mit.edu	37	9	104385691	104385691	+	Silent	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:104385691G>T	ENST00000361820.3	-	5	3123	c.2523C>A	c.(2521-2523)gcC>gcA	p.A841A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	841					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATGATGAAGGCGTCTAGTT	0.423																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2521-2523)gcC>gcA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						150.0	134.0	140.0					9																	104385691		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104385691G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2523C>A	9.37:g.104385691G>T							p.A841A	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			5	3123	-		Acute lymphoblastic leukemia(62;0.0568)	841					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.2523C>A	CCDS6758.1																																																																																				0.423	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			7	68	1	0	0.00198382	1	0.00202272	7	68				
THUMPD3	25917	broad.mit.edu	37	3	9413032	9413032	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:9413032T>C	ENST00000345094.3	+	4	953	c.619T>C	c.(619-621)Tct>Cct	p.S207P	THUMPD3_ENST00000515662.2_Missense_Mutation_p.S207P|THUMPD3_ENST00000452837.2_Missense_Mutation_p.S207P|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	207	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGATTTGGCATCTTGCAAAGA	0.383																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(619-621)Tct>Cct		THUMP domain containing 3							77.0	76.0	77.0					3																	9413032		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413032T>C	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.619T>C	3.37:g.9413032T>C	ENSP00000339532:p.Ser207Pro					THUMPD3_ENST00000452837.2_Missense_Mutation_p.S207P|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.S207P	p.S207P	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	953	+	Medulloblastoma(99;0.227)		207			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.619T>C	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.28|16.28	3.078675|3.078675	0.55753|0.55753	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.94|5.94	5.94|5.94	0.96194|0.96194	.|THUMP (3);	.|0.399227	.|0.30193	.|N	.|0.010183	T|T	0.52565|0.52565	0.1742|0.1742	L|L	0.60455|0.60455	1.87|1.87	0.19575|0.19575	N|N	0.999968|0.999968	.|P	.|0.52577	.|0.954	.|P	.|0.52159	.|0.691	T|T	0.55159|0.55159	-0.8184|-0.8184	5|10	.|0.52906	.|T	.|0.07	-16.9157|-16.9157	8.1208|8.1208	0.30969|0.30969	0.1325:0.0:0.138:0.7296|0.1325:0.0:0.138:0.7296	.|.	.|207	.|Q9BV44	.|THUM3_HUMAN	T|P	39|207	.|ENSP00000395893:S207P;ENSP00000339532:S207P;ENSP00000424064:S207P	.|ENSP00000339532:S207P	I|S	+|+	2|1	0|0	THUMPD3|THUMPD3	9388032|9388032	0.183000|0.183000	0.23186|0.23186	0.998000|0.998000	0.56505|0.56505	0.830000|0.830000	0.47004|0.47004	1.266000|1.266000	0.33039|0.33039	2.279000|2.279000	0.76181|0.76181	0.459000|0.459000	0.35465|0.35465	ATC|TCT		0.383	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		6	73	0	0	0	1	0	6	73				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			59	62	0	0	0	1	0	59	62				
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(241-243)tGt>tAt		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						114.0	114.0	114.0					11																	60230557		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230557G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.242G>A	11.37:g.60230557G>A	ENSP00000433277:p.Cys81Tyr					MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y	p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			3	531	+			81					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.242G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245825	0.59103	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000533306;ENST00000389939	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.84	4.92	0.64577	.	0.311720	0.35585	N	0.003118	T	0.06416	0.0165	L	0.52573	1.65	0.41585	D	0.988767	D;D;D	0.61080	0.975;0.989;0.989	P;P;P	0.61070	0.832;0.883;0.883	T	0.53521	-0.8427	10	0.12103	T	0.63	-15.5686	12.9933	0.58632	0.0:0.162:0.838:0.0	.	81;81;81	E9PKH8;A8K803;P11836	.;.;CD20_HUMAN	Y	81;81;81;84;81	ENSP00000314620:C81Y;ENSP00000433519:C81Y;ENSP00000433277:C81Y;ENSP00000437002:C84Y;ENSP00000374589:C81Y	ENSP00000314620:C81Y	C	+	2	0	MS4A1	59987133	0.935000	0.31712	0.997000	0.53966	0.912000	0.54170	0.688000	0.25422	1.477000	0.48234	0.655000	0.94253	TGT		0.502	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			37	98	0	0	0	1	0	37	98				
FEZ1	9638	broad.mit.edu	37	11	125325916	125325916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:125325916G>A	ENST00000278919.3	-	6	988	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	252					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCCAGCTGCTGCACCAGCTCC	0.592																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(754-756)Cag>Tag		fasciculation and elongation protein zeta 1 (zygin I)							62.0	64.0	63.0					11																	125325916		2201	4299	6500	SO:0001587	stop_gained	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125325916G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.754C>T	11.37:g.125325916G>A	ENSP00000278919:p.Gln252*					FEZ1_ENST00000527350.1_5'UTR	p.Q252*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	6	988	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	252					O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	ENST00000278919.3	37	c.754C>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	G	37	6.204419	0.97376	.	.	ENSG00000149557	ENST00000278919	.	.	.	5.65	5.65	0.86999	.	0.509177	0.23863	N	0.043829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.0223	15.9502	0.79827	0.0:0.1351:0.8649:0.0	.	.	.	.	X	252	.	ENSP00000278919:Q252X	Q	-	1	0	FEZ1	124831126	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.739000	0.47409	2.660000	0.90430	0.655000	0.94253	CAG		0.592	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		28	66	0	0	0	1	0	28	66				
PABPC1L	80336	broad.mit.edu	37	20	43559364	43559364	+	Silent	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:43559364C>G	ENST00000217073.2	+	8	1236	c.1236C>G	c.(1234-1236)ccC>ccG	p.P412P	PABPC1L_ENST00000255136.3_Silent_p.P412P|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	412	Pro-rich.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGCCATGCCCCAGGTGACGG	0.622																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1234-1236)ccC>ccG		poly(A) binding protein, cytoplasmic 1-like							97.0	98.0	98.0					20																	43559364		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43559364C>G	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1236C>G	20.37:g.43559364C>G						PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.P412P|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	p.P412P	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			8	1318	+			412			Pro-rich.		Q4VY17	Silent	SNP	ENST00000217073.2	37	c.1236C>G	CCDS42878.1																																																																																				0.622	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			4	242	0	0	0	1	0	4	242				
GPR125	166647	broad.mit.edu	37	4	22389711	22389711	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:22389711G>T	ENST00000334304.5	-	19	3852	c.3583C>A	c.(3583-3585)Cca>Aca	p.P1195T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1195					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACGCTCGTTGGGACATCGTAG	0.517																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3583-3585)Cca>Aca		G protein-coupled receptor 125							96.0	89.0	91.0					4																	22389711		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389711G>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3583C>A	4.37:g.22389711G>T	ENSP00000334952:p.Pro1195Thr					GPR125_ENST00000282943.5_5'UTR	p.P1195T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3852	-		Breast(46;0.198)	1195					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3583C>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576316	0.65878	.	.	ENSG00000152990	ENST00000334304	T	0.56103	0.48	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.70275	2.135	0.80722	D	1	P;D	0.60575	0.843;0.988	B;P	0.57204	0.444;0.815	T	0.67780	-0.5582	10	0.46703	T	0.11	-22.8244	20.2861	0.98535	0.0:0.0:1.0:0.0	.	1052;1195	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	1195	ENSP00000334952:P1195T	ENSP00000334952:P1195T	P	-	1	0	GPR125	21998809	1.000000	0.71417	0.997000	0.53966	0.200000	0.23975	9.471000	0.97696	2.786000	0.95864	0.650000	0.86243	CCA		0.517	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			31	67	1	0	8.4185e-14	1	9.31409e-14	31	67				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	24	0	0	0	1	0	4	24				
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000586659.1	-	4	624	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000432929.2_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(310-312)Ggc>Agc		KN motif and ankyrin repeat domains 2		C	SER/GLY,SER/GLY	0,4398		0,0,2199	45.0	49.0	48.0		310,310	4.4	1.0	19	dbSNP_134	48	1,8577		0,1,4288	no	missense,missense	KANK2	NM_001136191.2,NM_015493.6	56,56	0,1,6487	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	104/852,104/860	11304446	1,12975	2199	4289	6488	SO:0001583	missense	25959							g.chr19:11304446C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.310G>A	19.37:g.11304446C>T	ENSP00000465650:p.Gly104Ser					KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S	p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	670	-			104					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.310G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481065	0.63849	0.0	1.17E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39229	1.09;1.11	4.38	4.38	0.52667	.	0.074876	0.53938	D	0.000041	T	0.49660	0.1570	L	0.31065	0.9	0.46149	D	0.998897	D;P;D	0.89917	1.0;0.785;1.0	D;B;D	0.91635	0.999;0.114;0.99	T	0.35968	-0.9767	10	0.14656	T	0.56	-27.8474	15.7129	0.77644	0.0:1.0:0.0:0.0	.	104;104;104	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	S	104	ENSP00000395650:G104S;ENSP00000347276:G104S	ENSP00000347276:G104S	G	-	1	0	KANK2	11165446	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	6.332000	0.72934	1.986000	0.57962	0.462000	0.41574	GGC		0.667	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		31	168	0	0	0	1	0	31	168				
TGDS	23483	broad.mit.edu	37	13	95243124	95243124	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:95243124G>A	ENST00000261296.5	-	4	416	c.296C>T	c.(295-297)gCc>gTc	p.A99V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	99					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)	p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGTTTGTGCGGCAAAATGTAG	0.378																																						ENST00000261296.5																			1	Substitution - Missense(1)	p.A99V(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(295-297)gCc>gTc		TDP-glucose 4,6-dehydratase							158.0	156.0	157.0					13																	95243124		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95243124G>A	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.296C>T	13.37:g.95243124G>A	ENSP00000261296:p.Ala99Val					TGDS_ENST00000498294.1_5'UTR	p.A99V	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			4	416	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		99					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.296C>T	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643801	0.87859	.	.	ENSG00000088451	ENST00000261296	D	0.95482	-3.72	5.48	5.48	0.80851	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	10	0.87932	D	0	.	19.3474	0.94370	0.0:0.0:1.0:0.0	.	99	O95455	TGDS_HUMAN	V	99	ENSP00000261296:A99V	ENSP00000261296:A99V	A	-	2	0	TGDS	94041125	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.507000	0.81676	2.584000	0.87258	0.561000	0.74099	GCC		0.378	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		4	114	0	0	0	1	0	4	114				
OR2F1	26211	broad.mit.edu	37	7	143657342	143657342	+	Silent	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143657342A>T	ENST00000392899.1	+	1	316	c.279A>T	c.(277-279)ccA>ccT	p.P93P	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	93					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGCCATCCCATTCCAGAGCT	0.507																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(277-279)ccA>ccT		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							179.0	168.0	172.0					7																	143657342		2203	4298	6501	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657342A>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.279A>T	7.37:g.143657342A>T							p.P93P	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	316	+	Melanoma(164;0.0903)		93					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.279A>T	CCDS5887.1																																																																																				0.507	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			61	168	0	0	0	1	0	61	168				
ZNF624	57547	broad.mit.edu	37	17	16526616	16526616	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:16526616A>G	ENST00000311331.7	-	6	1675	c.1584T>C	c.(1582-1584)taT>taC	p.Y528Y		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTACATTTATAGGGTTTTT	0.378																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(1582-1584)taT>taC		zinc finger protein 624							85.0	91.0	89.0					17																	16526616		2203	4300	6503	SO:0001819	synonymous_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526616A>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1584T>C	17.37:g.16526616A>G							p.Y528Y	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1675	-			528					Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	c.1584T>C	CCDS11180.1																																																																																				0.378	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		22	69	0	0	0	1	0	22	69				
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr5:180166600G>A	ENST00000307832.2	-	1	499	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(457-459)ttC>ttT		olfactory receptor, family 2, subfamily Y, member 1							50.0	49.0	49.0					5																	180166600		2203	4300	6503	SO:0001819	synonymous_variant	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166600G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.459C>T	5.37:g.180166600G>A							p.F153F	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	499	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	153					B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	c.459C>T	CCDS34323.1																																																																																				0.552	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		5	43	0	0	0	1	0	5	43				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	30	1	0	0.00024832	1	0.000255696	4	30				
CARD11	84433	broad.mit.edu	37	7	2946317	2946317	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:2946317G>A	ENST00000396946.4	-	25	3823	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1140	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCTCCTCGCCGATCTTGT	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(3418-3420)ggC>ggT		caspase recruitment domain family, member 11							94.0	78.0	83.0					7																	2946317		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2946317G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3420C>T	7.37:g.2946317G>A							p.G1140G	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	25	3823	-		Ovarian(82;0.0115)	1140			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.3420C>T	CCDS5336.2																																																																																				0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		14	106	0	0	0	1	0	14	106				
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	202					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(604-606)Att>Gtt		eyes absent homolog 3 (Drosophila)							116.0	111.0	113.0					1																	28339787		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339787T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.604A>G	1.37:g.28339787T>C	ENSP00000362978:p.Ile202Val					EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V	p.I202V			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	844	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	202					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.604A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937636	0.52972	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;T;T;T	0.92858	-2.83;-3.12;-3.07;-1.38;-1.38;-1.38	5.45	5.45	0.79879	.	0.206525	0.51477	D	0.000096	D	0.93259	0.7852	L	0.40543	1.245	0.48087	D	0.999586	P;P;P	0.52061	0.876;0.897;0.95	D;P;P	0.64595	0.927;0.609;0.707	D	0.91779	0.5434	10	0.26408	T	0.33	-19.1909	15.8132	0.78581	0.0:0.0:0.0:1.0	.	156;156;202	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	202;76;46;156;149;156	ENSP00000362978:I202V;ENSP00000405587:I76V;ENSP00000362971:I46V;ENSP00000442558:I156V;ENSP00000442280:I149V;ENSP00000362970:I156V	ENSP00000362970:I156V	I	-	1	0	EYA3	28212374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.723000	0.54955	2.196000	0.70406	0.533000	0.62120	ATT		0.453	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		16	101	0	0	0	1	0	16	101				
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				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)				CCACCTCCACGCCCCCGCCTC	0.687																																						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.(1567-1569)acG>acC		ras responsive element binding protein 1							44.0	56.0	52.0					6																	7229901		2198	4296	6494	SO:0001819	synonymous_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.chr6:7229901G>C	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.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	91	0	0	0	1	0	9	91				
ASCC3	10973	broad.mit.edu	37	6	100957869	100957869	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:100957869C>G	ENST00000369162.2	-	41	6744	c.6400G>C	c.(6400-6402)Gga>Cga	p.G2134R		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2134	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGAATATATCCTACTCTTTTC	0.353																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(6400-6402)Gga>Cga		activating signal cointegrator 1 complex subunit 3							169.0	187.0	181.0					6																	100957869		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100957869C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6400G>C	6.37:g.100957869C>G	ENSP00000358159:p.Gly2134Arg						p.G2134R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	41	6744	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	2134			SEC63 3.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.6400G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260980	0.80246	.	.	ENSG00000112249	ENST00000369162	T	0.60171	0.21	5.75	4.88	0.63580	Sec63 domain (3);	0.063289	0.64402	D	0.000005	T	0.70771	0.3262	M	0.85462	2.755	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.75130	-0.3426	10	0.45353	T	0.12	.	14.8341	0.70169	0.0:0.931:0.0:0.069	.	2134	Q8N3C0	HELC1_HUMAN	R	2134	ENSP00000358159:G2134R	ENSP00000358159:G2134R	G	-	1	0	ASCC3	101064590	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.018000	0.64054	1.565000	0.49641	0.650000	0.86243	GGA		0.353	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		24	193	0	0	0	1	0	24	193				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	32	0	0	0	1	0	21	32				
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000358544.2	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000395996.1_Missense_Mutation_p.I1091V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3271-3273)Att>Gtt		vacuolar protein sorting 13 homolog B (yeast)							169.0	158.0	162.0					8																	100454689		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454689A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3271A>G	8.37:g.100454689A>G	ENSP00000351346:p.Ile1091Val					VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V	p.I1091V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3382	+	Breast(36;3.73e-07)		1091					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3271A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464060	0.63513	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46063	0.88;0.88;0.88	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	N	0.24115	0.695	0.49582	D	0.999808	P;D;D;P	0.59357	0.949;0.958;0.985;0.901	P;D;D;B	0.69307	0.63;0.963;0.952;0.433	T	0.39099	-0.9630	10	0.22109	T	0.4	.	15.9886	0.80183	1.0:0.0:0.0:0.0	.	1090;1091;1091;1091	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	V	1091	ENSP00000349685:I1091V;ENSP00000351346:I1091V;ENSP00000379318:I1091V	ENSP00000349685:I1091V	I	+	1	0	VPS13B	100523865	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.634000	0.91002	2.178000	0.69098	0.482000	0.46254	ATT		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		25	63	0	0	0	1	0	25	63				
CILP2	148113	broad.mit.edu	37	19	19655449	19655449	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:19655449C>T	ENST00000291495.5	+	8	2180	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	CILP2_ENST00000586018.1_Missense_Mutation_p.R705C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGCTTCCGGCGCGAGGGGTC	0.711																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2113-2115)Cgc>Tgc		cartilage intermediate layer protein 2							4.0	5.0	5.0					19																	19655449		1946	3879	5825	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655449C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2095C>T	19.37:g.19655449C>T	ENSP00000291495:p.Arg699Cys					CILP2_ENST00000291495.4_Missense_Mutation_p.R699C	p.R705C			Q8IUL8	CILP2_HUMAN			8	2215	+			699					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2113C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	6.216	0.408046	0.11754	.	.	ENSG00000160161	ENST00000291495	T	0.45668	0.89	4.35	0.6	0.17524	.	1.221540	0.05510	N	0.560103	T	0.25717	0.0626	N	0.08118	0	0.09310	N	0.999999	P;B	0.46395	0.877;0.002	B;B	0.42522	0.39;0.001	T	0.21381	-1.0247	10	0.38643	T	0.18	-1.7514	7.9394	0.29950	0.323:0.5202:0.1567:0.0	.	699;699	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	699	ENSP00000291495:R699C	ENSP00000291495:R699C	R	+	1	0	CILP2	19516449	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.667000	0.25112	0.011000	0.14865	0.555000	0.69702	CGC		0.711	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		9	19	0	0	0	1	0	9	19				
SEMA3D	223117	broad.mit.edu	37	7	84671509	84671509	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:84671509T>G	ENST00000284136.6	-	8	997	c.954A>C	c.(952-954)gcA>gcC	p.A318A	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTAAGTATCTGCCCCATCAC	0.423																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(952-954)gcA>gcC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							267.0	244.0	251.0					7																	84671509		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671509T>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.954A>C	7.37:g.84671509T>G							p.A318A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			8	997	-			318			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.954A>C	CCDS34676.1																																																																																				0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		45	174	0	0	0	1	0	45	174				
CCKAR	886	broad.mit.edu	37	4	26487511	26487511	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:26487511A>T	ENST00000295589.3	-	3	568	c.374T>A	c.(373-375)gTg>gAg	p.V125E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	125					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGATACACTCACAGAGGTGCC	0.433																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(373-375)gTg>gAg		cholecystokinin A receptor	Ceruletide(DB00403)						35.0	36.0	35.0					4																	26487511		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487511A>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.374T>A	4.37:g.26487511A>T	ENSP00000295589:p.Val125Glu						p.V125E	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			3	568	-		Breast(46;0.0503)	125					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.374T>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453370	0.84209	.	.	ENSG00000163394	ENST00000295589	T	0.21031	2.03	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.060339	0.64402	D	0.000003	T	0.62527	0.2435	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77606	-0.2525	10	0.87932	D	0	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	125	P32238	CCKAR_HUMAN	E	125	ENSP00000295589:V125E	ENSP00000295589:V125E	V	-	2	0	CCKAR	26096609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.101000	0.63845	0.528000	0.53228	GTG		0.433	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	18	0	0	0	1	0	8	18				
CDH1	999	broad.mit.edu	37	16	68842417	68842417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:68842417C>T	ENST00000261769.5	+	4	669	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P160S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTATTCCTCCCATCAGCTG	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.V157_Q177del(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(478-480)Ccc>Tcc		cadherin 1, type 1, E-cadherin (epithelial)							72.0	71.0	71.0					16																	68842417		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68842417C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.478C>T	16.37:g.68842417C>T	ENSP00000261769:p.Pro160Ser					CDH1_ENST00000422392.2_Missense_Mutation_p.P160S|CDH1_ENST00000562836.1_3'UTR	p.P160S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	4	669	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	160			Cadherin 1.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.478C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339136	0.41398	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.73152	-0.72;-0.72	5.87	5.87	0.94306	Cadherin-like (2);	0.000000	0.50627	D	0.000109	D	0.85048	0.5608	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	D	0.85055	0.0931	10	0.72032	D	0.01	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	160;160	Q9UII8;P12830	.;CADH1_HUMAN	S	160	ENSP00000261769:P160S;ENSP00000414946:P160S	ENSP00000261769:P160S	P	+	1	0	CDH1	67399918	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.655000	0.67981	2.941000	0.99782	0.655000	0.94253	CCC		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		9	56	0	0	0	1	0	9	56				
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(178-180)atC>atT		ADAM metallopeptidase domain 20							127.0	97.0	107.0					14																	70991445		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991445G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.180C>T	14.37:g.70991445G>A						RP11-486O13.4_ENST00000556646.1_lincRNA	p.I60I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	424	-			10					Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.180C>T	CCDS32111.1																																																																																				0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			21	77	0	0	0	1	0	21	77				
PARP6	56965	broad.mit.edu	37	15	72558334	72558334	+	Splice_Site	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:72558334T>C	ENST00000569795.1	-	5	769		c.e5-2		PARP6_ENST00000260376.7_Splice_Site|PARP6_ENST00000413097.2_Splice_Site|PARP6_ENST00000287196.9_Splice_Site			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACAGCTCCCCTGAGATAGCAG	0.463																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.e5-2		poly (ADP-ribose) polymerase family, member 6							61.0	56.0	58.0					15																	72558334		1919	4140	6059	SO:0001630	splice_region_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72558334T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.82-2A>G	15.37:g.72558334T>C						PARP6_ENST00000413097.2_Splice_Site|PARP6_ENST00000260376.7_Splice_Site|PARP6_ENST00000287196.9_Splice_Site				Q2NL67	PARP6_HUMAN			5	769	-								Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Splice_Site	SNP	ENST00000569795.1	37		CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798882	0.70567	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0151	0.71578	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP6	70345388	1.000000	0.71417	0.986000	0.45419	0.875000	0.50365	7.640000	0.83355	2.135000	0.66039	0.533000	0.62120	.		0.463	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	Intron	6	38	0	0	0	1	0	6	38				
TRHDE	29953	broad.mit.edu	37	12	73012696	73012696	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:73012696C>T	ENST00000261180.4	+	13	2308	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	738					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAGAATATTCCTCTGGAGAT	0.393																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2212-2214)Cct>Tct		thyrotropin-releasing hormone degrading enzyme							56.0	61.0	59.0					12																	73012696		2202	4300	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012696C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2212C>T	12.37:g.73012696C>T	ENSP00000261180:p.Pro738Ser					TRHDE_ENST00000549138.1_3'UTR	p.P738S	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			13	2308	+			738					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2212C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268183	0.59540	.	.	ENSG00000072657	ENST00000261180	T	0.05139	3.49	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.26416	0.069	T	0.11203	-1.0597	10	0.42905	T	0.14	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	738	Q9UKU6	TRHDE_HUMAN	S	738	ENSP00000261180:P738S	ENSP00000261180:P738S	P	+	1	0	TRHDE	71298963	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.160000	0.77495	2.885000	0.99019	0.655000	0.94253	CCT		0.393	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		8	56	0	0	0	1	0	8	56				
LATS2	26524	broad.mit.edu	37	13	21563436	21563436	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:21563436C>T	ENST00000382592.4	-	4	888	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LATS2_ENST00000542899.1_Silent_p.G161G|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGCATGAGCCCCTTTCCTG	0.607																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(481-483)ggG>ggA		large tumor suppressor kinase 2							67.0	53.0	58.0					13																	21563436		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563436C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.483G>A	13.37:g.21563436C>T						LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.G161G	p.G161G	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	888	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	161						Silent	SNP	ENST00000382592.4	37	c.483G>A	CCDS9294.1																																																																																				0.607	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			26	70	0	0	0	1	0	26	70				
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Silent_p.S961S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3373-3375)tcA>tcC		Rho GTPase activating protein 33							20.0	24.0	22.0					19																	36278842		2203	4298	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278842A>C	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3375A>C	19.37:g.36278842A>C						ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S	p.S1125S			O14559	RHG33_HUMAN			21	3519	+			1125					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3375A>C																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		10	31	0	0	0	1	0	10	31				
TNRC6A	27327	broad.mit.edu	37	16	24788441	24788441	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:24788441G>A	ENST00000395799.3	+	5	480	c.351G>A	c.(349-351)ccG>ccA	p.P117P	TNRC6A_ENST00000315183.7_Silent_p.P117P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	117	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P117P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agccgcagccgcagcagcagc	0.602																																						ENST00000395799.3																			1	Substitution - coding silent(1)	p.P117P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(349-351)ccG>ccA		trinucleotide repeat containing 6A							23.0	32.0	29.0					16																	24788441		2162	4240	6402	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788441G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.351G>A	16.37:g.24788441G>A						TNRC6A_ENST00000315183.7_Silent_p.P117P	p.P117P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	480	+			117			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.351G>A	CCDS10624.2																																																																																				0.602	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		20	98	0	0	0	1	0	20	98				
ANO7	50636	broad.mit.edu	37	2	242162622	242162622	+	Silent	SNP	C	C	T	rs149644243		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:242162622C>T	ENST00000274979.8	+	22	2608	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	ANO7_ENST00000402430.3_Silent_p.D834D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	835					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCGGGATGACGATGGACATT	0.572																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2503-2505)gaC>gaT		anoctamin 7		C		1,4405	2.1+/-5.4	0,1,2202	252.0	220.0	231.0		2505	-7.2	0.0	2	dbSNP_134	231	0,8600		0,0,4300	no	coding-synonymous	ANO7	NM_001001891.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		835/934	242162622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242162622C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2505C>T	2.37:g.242162622C>T						ANO7_ENST00000402430.3_Silent_p.D834D	p.D835D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			22	2608	+			835					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.2505C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808062	0.00606	2.27E-4	0.0	ENSG00000146205	ENST00000451047	.	.	.	3.6	-7.19	0.01500	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1089	0.14798	0.1647:0.5582:0.1265:0.1506	.	.	.	.	X	148	.	.	R	+	1	2	ANO7	241811295	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.086000	0.00611	-2.931000	0.00300	-2.506000	0.00189	CGA		0.572	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		38	262	0	0	0	1	0	38	262				
FAM186B	84070	broad.mit.edu	37	12	49999238	49999238	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:49999238T>G	ENST00000257894.2	-	1	184	c.23A>C	c.(22-24)cAg>cCg	p.Q8P	FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.Q8P	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	8						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCACCAACTGTGGGGGGTC	0.522																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(22-24)cAg>cCg		family with sequence similarity 186, member B							99.0	82.0	88.0					12																	49999238		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49999238T>G	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.23A>C	12.37:g.49999238T>G	ENSP00000257894:p.Gln8Pro					FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.Q8P	p.Q8P	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			1	184	-			8					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.23A>C	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939031	0.34189	.	.	ENSG00000135436	ENST00000551047;ENST00000257894	T;T	0.49432	0.78;2.8	5.06	3.9	0.45041	.	0.722434	0.12021	N	0.506995	T	0.48370	0.1496	L	0.54323	1.7	0.80722	D	1	D	0.53745	0.962	P	0.48304	0.573	T	0.35126	-0.9801	9	.	.	.	-6.7635	8.3546	0.32323	0.1745:0.0:0.0:0.8255	.	8	Q8IYM0	F186B_HUMAN	P	8	ENSP00000448656:Q8P;ENSP00000257894:Q8P	.	Q	-	2	0	FAM186B	48285505	0.984000	0.35163	0.590000	0.28732	0.148000	0.21650	1.196000	0.32198	1.050000	0.40346	0.528000	0.53228	CAG		0.522	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		7	26	0	0	0	1	0	7	26				
B4GALNT4	338707	broad.mit.edu	37	11	373227	373227	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:373227C>T	ENST00000329962.6	+	6	572	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	191					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGACAACTCGGAGTTCTGG	0.657																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(571-573)tCg>tTg		beta-1,4-N-acetyl-galactosaminyl transferase 4							62.0	60.0	60.0					11																	373227		2199	4294	6493	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373227C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.572C>T	11.37:g.373227C>T	ENSP00000328277:p.Ser191Leu						p.S191L	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	572	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	191					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.572C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	16.87	3.241333	0.58995	.	.	ENSG00000182272	ENST00000329962	T	0.22539	1.95	4.35	4.35	0.52113	PA14 (2);	0.292876	0.32935	N	0.005471	T	0.51041	0.1651	M	0.83384	2.64	0.38764	D	0.954404	D	0.89917	1.0	D	0.87578	0.998	T	0.63598	-0.6601	10	0.72032	D	0.01	-7.339	17.4028	0.87465	0.0:1.0:0.0:0.0	.	191	Q76KP1	B4GN4_HUMAN	L	191	ENSP00000328277:S191L	ENSP00000328277:S191L	S	+	2	0	B4GALNT4	363227	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.131000	0.64751	2.164000	0.68074	0.472000	0.43445	TCG		0.657	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		10	61	0	0	0	1	0	10	61				
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(331-333)tcT>tcC		ribosomal protein S6 kinase, 90kDa, polypeptide 6							35.0	32.0	33.0					X																	83403057		2200	4292	6492	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83403057A>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.333T>C	X.37:g.83403057A>G						RPS6KA6_ENST00000543399.1_Silent_p.S111S	p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			4	340	-			111			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.333T>C	CCDS14451.1																																																																																				0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		8	40	0	0	0	1	0	8	40				
HECW2	57520	broad.mit.edu	37	2	197084855	197084855	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:197084855G>C	ENST00000260983.3	-	26	4498	c.4316C>G	c.(4315-4317)tCt>tGt	p.S1439C	HECW2_ENST00000409111.1_Missense_Mutation_p.S1083C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1439	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATCAAAAACAGATACCAGCCT	0.428																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(4315-4317)tCt>tGt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							104.0	99.0	101.0					2																	197084855		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197084855G>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4316C>G	2.37:g.197084855G>C	ENSP00000260983:p.Ser1439Cys					HECW2_ENST00000409111.1_Missense_Mutation_p.S1083C	p.S1439C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			26	4498	-			1439			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.4316C>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622902	0.87460	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.60040	0.22;0.22	5.11	5.11	0.69529	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83726	0.0195	10	0.87932	D	0	.	18.7211	0.91694	0.0:0.0:1.0:0.0	.	1439	Q9P2P5	HECW2_HUMAN	C	1083;1439	ENSP00000386775:S1083C;ENSP00000260983:S1439C	ENSP00000260983:S1439C	S	-	2	0	HECW2	196793100	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	9.263000	0.95617	2.637000	0.89404	0.655000	0.94253	TCT		0.428	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		14	33	0	0	0	1	0	14	33				
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCAATTAAGGTAACATTTTCA	0.318																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e32+2		carbamoyl-phosphate synthase 1, mitochondrial							83.0	78.0	80.0					2																	211525381		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211525381T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3927+2T>A	2.37:g.211525381T>A						CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site		NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	32	4123	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37		CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345601	0.82022	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0343	0.80612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211233626	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.606000	0.82863	2.198000	0.70561	0.533000	0.62120	.		0.318	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	11	39	0	0	0	1	0	11	39				
BMP1	649	broad.mit.edu	37	8	22052995	22052995	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:22052995C>T	ENST00000306385.5	+	13	2330	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P554S|BMP1_ENST00000397814.3_Missense_Mutation_p.P554S|BMP1_ENST00000306349.8_Missense_Mutation_p.P554S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	554	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTGCTCTCGGCCCAACCGCGG	0.632																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1660-1662)Ccc>Tcc		bone morphogenetic protein 1							47.0	47.0	47.0					8																	22052995		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22052995C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1660C>T	8.37:g.22052995C>T	ENSP00000305714:p.Pro554Ser					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.P554S|BMP1_ENST00000306349.8_Missense_Mutation_p.P554S|BMP1_ENST00000397816.3_Missense_Mutation_p.P554S	p.P554S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2330	+			554			EGF-like 1; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1660C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937712	0.92458	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;D;D;D	0.95272	-0.12;-3.66;-3.66;-3.66	5.19	5.19	0.71726	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38272	U	0.001745	D	0.95204	0.8445	L	0.33339	1.005	0.80722	D	1	B;D;P;P	0.64830	0.202;0.994;0.944;0.878	B;D;P;P	0.69142	0.292;0.962;0.661;0.69	D	0.95159	0.8280	10	0.45353	T	0.12	.	17.476	0.87659	0.0:1.0:0.0:0.0	.	554;627;554;554	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	554	ENSP00000305714:P554S;ENSP00000380917:P554S;ENSP00000306121:P554S;ENSP00000380915:P554S	ENSP00000306121:P554S	P	+	1	0	BMP1	22108940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.933000	0.63484	2.419000	0.82065	0.563000	0.77884	CCC		0.632	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		28	85	0	0	0	1	0	28	85				
NBPF10	100132406	broad.mit.edu	37	1	145293426	145293426	+	Silent	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:145293426T>C	ENST00000369339.3	+	3	274	c.21T>C	c.(19-21)ccT>ccC	p.P7P	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.P7P|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	278						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGCCGGCCCTTGGTCCAGTG	0.498																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(19-21)ccT>ccC		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293426T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.21T>C	1.37:g.145293426T>C						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.P7P|RP11-458D21.5_ENST00000468030.1_3'UTR	p.P7P	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	56	+	all_hematologic(923;0.032)		7					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.21T>C																																																																																					0.498	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		6	1063	0	0	0	1	0	6	1063				
FLG2	388698	broad.mit.edu	37	1	152326883	152326883	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:152326883C>A	ENST00000388718.5	-	3	3451	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1127	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCAAAGCCAGAAGACTGA	0.517																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3379-3381)Ggc>Tgc		filaggrin family member 2							220.0	219.0	220.0					1																	152326883		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326883C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3379G>T	1.37:g.152326883C>A	ENSP00000373370:p.Gly1127Cys					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1127C	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3451	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1127			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3379G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706797	0.68615	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	4.93	-2.96	0.05547	.	.	.	.	.	T	0.09512	0.0234	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.54460	0.753	T	0.18777	-1.0326	9	0.49607	T	0.09	.	10.1269	0.42654	0.0:0.2311:0.0:0.7689	.	1127	Q5D862	FILA2_HUMAN	C	1127	ENSP00000373370:G1127C	ENSP00000373370:G1127C	G	-	1	0	FLG2	150593507	0.000000	0.05858	0.005000	0.12908	0.637000	0.38172	-1.401000	0.02502	-0.410000	0.07542	0.558000	0.71614	GGC		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		46	345	1	0	4.75955e-12	1	5.15618e-12	46	345				
KRT28	162605	broad.mit.edu	37	17	38953498	38953498	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:38953498G>A	ENST00000306658.7	-	4	791	c.726C>T	c.(724-726)aaC>aaT	p.N242N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCACGTTCACGTTGCCCCCAG	0.582																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(724-726)aaC>aaT		keratin 28							60.0	62.0	62.0					17																	38953498		2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953498G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.726C>T	17.37:g.38953498G>A							p.N242N	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			4	791	-		Breast(137;0.000301)	242			Linker 12.|Rod.			Silent	SNP	ENST00000306658.7	37	c.726C>T	CCDS11376.1																																																																																				0.582	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		14	83	0	0	0	1	0	14	83				
HPSE2	60495	broad.mit.edu	37	10	100249850	100249850	+	Missense_Mutation	SNP	C	C	T	rs368857672		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:100249850C>T	ENST00000370552.3	-	10	1483	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	HPSE2_ENST00000370549.1_Missense_Mutation_p.R417Q|HPSE2_ENST00000370546.1_Missense_Mutation_p.R475Q|HPSE2_ENST00000404542.1_Missense_Mutation_p.R363Q	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	475					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAGTTTGTCCCGGATCACTCG	0.567																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1423-1425)cGg>cAg		heparanase 2		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	113.0	115.0		1250,1088,1424,1424	5.6	1.0	10		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	417/535,363/481,475/549,475/593	100249850	2,13004	2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249850C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1424G>A	10.37:g.100249850C>T	ENSP00000359583:p.Arg475Gln					HPSE2_ENST00000404542.1_Missense_Mutation_p.R363Q|HPSE2_ENST00000370546.1_Missense_Mutation_p.R475Q|HPSE2_ENST00000370549.1_Missense_Mutation_p.R417Q	p.R475Q	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	10	1483	-			475					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1424G>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532518	0.96446	2.27E-4	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.45668	0.89;0.92;1.5;0.92	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.38531	1.155	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;D;D;D	0.77557	0.744;0.927;0.99;0.978	T	0.37126	-0.9719	10	0.12766	T	0.61	-9.1283	19.6332	0.95719	0.0:1.0:0.0:0.0	.	363;475;417;475	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	Q	475;417;475;363	ENSP00000359583:R475Q;ENSP00000359580:R417Q;ENSP00000359577:R475Q;ENSP00000384384:R363Q	ENSP00000359577:R475Q	R	-	2	0	HPSE2	100239840	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.399000	0.79935	2.645000	0.89757	0.591000	0.81541	CGG		0.567	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		10	157	0	0	0	1	0	10	157				
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(481-483)tAt>tGt		blood vessel epicardial substance							164.0	164.0	164.0					6																	105573323		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573323T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.482A>G	6.37:g.105573323T>C	ENSP00000313172:p.Tyr161Cys					BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	698	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	161					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.482A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217329	0.79352	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.49139	0.79;0.79;0.79	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72959	-0.4133	10	0.87932	D	0	-22.8392	16.0458	0.80720	0.0:0.0:0.0:1.0	.	161	Q8NE79	POPD1_HUMAN	C	161	ENSP00000313172:Y161C;ENSP00000337259:Y161C;ENSP00000397310:Y161C	ENSP00000313172:Y161C	Y	-	2	0	BVES	105680016	1.000000	0.71417	0.830000	0.32933	0.971000	0.66376	7.596000	0.82721	2.192000	0.70111	0.533000	0.62120	TAT		0.413	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		36	140	0	0	0	1	0	36	140				
CLCN1	1180	broad.mit.edu	37	7	143048836	143048836	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143048836G>A	ENST00000343257.2	+	23	2832	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	915					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGGCCTGGGGCCACTGGAA	0.622																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2743-2745)ggG>ggA		chloride channel, voltage-sensitive 1							46.0	44.0	45.0					7																	143048836		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048836G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2745G>A	7.37:g.143048836G>A							p.G915G	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			23	2832	+	Melanoma(164;0.205)		915					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2745G>A	CCDS5881.1																																																																																				0.622	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		18	67	0	0	0	1	0	18	67				
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(850-852)atT>atA		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							141.0	129.0	133.0					16																	26147050		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147050T>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.852T>A	16.37:g.26147050T>A						HS3ST4_ENST00000475436.1_3'UTR	p.I284I	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1244	+			284					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.852T>A	CCDS53995.1																																																																																				0.502	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		34	135	0	0	0	1	0	34	135				
TKTL1	8277	broad.mit.edu	37	X	153537745	153537745	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:153537745G>C	ENST00000369915.3	+	3	490	c.301G>C	c.(301-303)Gga>Cga	p.G101R	TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	101					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAAGGACTGGGAGTTGCATG	0.532																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(301-303)Gga>Cga		transketolase-like 1							331.0	280.0	297.0					X																	153537745		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153537745G>C	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.301G>C	X.37:g.153537745G>C	ENSP00000358931:p.Gly101Arg					TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R	p.G101R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			3	490	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		101					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.301G>C	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919870|2.919870	0.52653|0.52653	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000426203|ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Transketolase, N-terminal (1);	0.055419|0.055419	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.68375|0.68375	0.2994|0.2994	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79396|0.79396	-0.1821|-0.1821	6|10	.|0.62326	.|D	.|0.03	-25.6937|-25.6937	16.0378|16.0378	0.80642|0.80642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;101	.|B7Z7I0;P51854	.|.;TKTL1_HUMAN	A|R	83|101;45;101;45	.|ENSP00000358931:G101R;ENSP00000401111:G101R;ENSP00000358928:G45R	.|ENSP00000358928:G45R	G|G	+|+	2|1	0|0	TKTL1|TKTL1	153190939|153190939	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.034000|0.034000	0.12701|0.12701	7.442000|7.442000	0.80503|0.80503	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GGG|GGA		0.532	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		60	301	0	0	0	1	0	60	301				
LIMK1	3984	broad.mit.edu	37	7	73513516	73513516	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:73513516C>T	ENST00000336180.2	+	5	607	c.556C>T	c.(556-558)Cac>Tac	p.H186Y	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000418310.1_Missense_Mutation_p.H216Y|LIMK1_ENST00000538333.3_Missense_Mutation_p.H152Y	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	186	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGACCCCCCGCACGGCCCACC	0.672																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(646-648)Cac>Tac		LIM domain kinase 1							121.0	101.0	107.0					7																	73513516		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73513516C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.556C>T	7.37:g.73513516C>T	ENSP00000336740:p.His186Tyr					LIMK1_ENST00000538333.3_Missense_Mutation_p.H152Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H186Y|LIMK1_ENST00000491052.1_3'UTR	p.H216Y			P53667	LIMK1_HUMAN			5	748	+		Lung NSC(55;0.137)	186			PDZ.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.646C>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.757131	0.00657	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.59	3.49	0.39957	PDZ/DHR/GLGF (4);	0.594645	0.18372	N	0.143223	T	0.10508	0.0257	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.35599	-0.9782	10	0.02654	T	1	-19.2679	4.5288	0.11995	0.0:0.6294:0.2327:0.1379	.	152;186	B7Z6I8;P53667	.;LIMK1_HUMAN	Y	216;186;186;152;152	ENSP00000409717:H216Y;ENSP00000336740:H186Y;ENSP00000396480:H152Y;ENSP00000444452:H152Y	ENSP00000336740:H186Y	H	+	1	0	LIMK1	73151452	0.372000	0.25064	0.774000	0.31636	0.099000	0.18886	2.467000	0.45093	1.346000	0.45694	0.644000	0.83932	CAC		0.672	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		61	174	0	0	0	1	0	61	174				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		14	53	0	0	0	1	0	14	53				
NUP210	23225	broad.mit.edu	37	3	13401853	13401853	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:13401853C>T	ENST00000254508.5	-	15	2153	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	691					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAGCCAGGCCGATGCTGTCA	0.567																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2071-2073)Ggc>Agc		nucleoporin 210kDa							102.0	88.0	93.0					3																	13401853		2203	4300	6503	SO:0001583	missense	23225				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.chr3:13401853C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2071G>A	3.37:g.13401853C>T	ENSP00000254508:p.Gly691Ser						p.G691S	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			15	2153	-	all_neural(104;0.187)		691					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.2071G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.456762	0.01071	.	.	ENSG00000132182	ENST00000254508	T	0.23754	1.89	5.66	-1.51	0.08664	.	0.360949	0.35646	N	0.003064	T	0.06280	0.0162	N	0.02674	-0.535	0.19300	N	0.99998	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.36841	-0.9731	10	0.06099	T	0.92	-6.9802	5.5379	0.17021	0.0:0.35:0.1454:0.5045	.	691;691	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	S	691	ENSP00000254508:G691S	ENSP00000254508:G691S	G	-	1	0	NUP210	13376853	0.000000	0.05858	0.184000	0.23157	0.011000	0.07611	-0.157000	0.10085	-0.130000	0.11599	-1.090000	0.02178	GGC		0.567	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		6	52	0	0	0	1	0	6	52				
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000368445.5	-	1	350	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.L46V|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(136-138)Ctg>Gtg		SHC (Src homology 2 domain containing) transforming protein 1							23.0	24.0	24.0					1																	154942867		2187	4286	6473	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942867G>C	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.136C>G	1.37:g.154942867G>C	ENSP00000357430:p.Leu46Val					SHC1_ENST00000368445.5_Missense_Mutation_p.L46V|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000606391.1_Intron	p.L46V	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	356	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		46					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.136C>G	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923174	0.52653	.	.	ENSG00000160691	ENST00000368445;ENST00000448116	T;T	0.53423	0.62;0.62	4.37	2.48	0.30137	.	0.000000	0.64402	D	0.000016	T	0.51075	0.1653	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72625	0.978;0.952	T	0.50056	-0.8872	10	0.31617	T	0.26	.	9.893	0.41300	0.1812:0.0:0.8188:0.0	.	46;46	P29353-6;P29353	.;SHC1_HUMAN	V	46	ENSP00000357430:L46V;ENSP00000401303:L46V	ENSP00000357430:L46V	L	-	1	2	SHC1	153209491	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	2.154000	0.42291	1.179000	0.42884	0.555000	0.69702	CTG		0.662	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		19	64	0	0	0	1	0	19	64				
EXOC1	55763	broad.mit.edu	37	4	56737333	56737334	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:56737333_56737334GG>CA	ENST00000381295.2	+	7	1246_1247	c.898_899GG>CA	c.(898-900)GGc>CAc	p.G300H	EXOC1_ENST00000349598.6_Missense_Mutation_p.G300H|EXOC1_ENST00000346134.7_Missense_Mutation_p.G300H	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	300					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTCTTCCAGAGGCATTGAGGCC	0.45																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(898-900)Ggc>Cgc|c.(898-900)gGc>gAc		exocyst complex component 1																																				SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56737333G>C|g.chr4:56737334G>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	Exception_encountered	4.37:g.56737333_56737334delinsCA	ENSP00000370695:p.Gly300His					EXOC1_ENST00000346134.7_Missense_Mutation_p.G300R|EXOC1_ENST00000349598.6_Missense_Mutation_p.G300R|EXOC1_ENST00000346134.7_Missense_Mutation_p.G300D|EXOC1_ENST00000349598.6_Missense_Mutation_p.G300D	p.G300R|p.G300D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			7	1246|1247	+	Glioma(25;0.08)|all_neural(26;0.101)		300					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.898G>C|c.899G>A	CCDS3502.1																																																																																				0.450	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		23	43	0	0	0	1	0	23	43				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	75	0	0	0	1	0	6	75				
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1099-1101)aaC>aaG		calmodulin binding transcription activator 1							96.0	95.0	96.0					1																	7723708		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723708C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1101C>G	1.37:g.7723708C>G	ENSP00000306522:p.Asn367Lys					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1308	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	367					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1101C>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.669168	0.29604	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.47869	0.83;0.83	4.92	2.99	0.34606	.	0.244848	0.39985	N	0.001214	T	0.36303	0.0962	L	0.50333	1.59	0.39559	D	0.969107	P	0.42871	0.792	B	0.37731	0.257	T	0.28808	-1.0032	10	0.56958	D	0.05	-18.1634	5.9511	0.19246	0.0:0.633:0.1483:0.2187	.	367	Q9Y6Y1	CMTA1_HUMAN	K	367	ENSP00000306522:N367K;ENSP00000402561:N367K	ENSP00000306522:N367K	N	+	3	2	CAMTA1	7646295	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.168000	0.31859	1.018000	0.39521	0.543000	0.68304	AAC		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		37	68	0	0	0	1	0	37	68				
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(241-243)tGt>tAt		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						114.0	114.0	114.0					11																	60230557		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230557G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.242G>A	11.37:g.60230557G>A	ENSP00000433277:p.Cys81Tyr					MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000534503.1_3'UTR	p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			3	531	+			81					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.242G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245825	0.59103	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000533306;ENST00000389939	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.84	4.92	0.64577	.	0.311720	0.35585	N	0.003118	T	0.06416	0.0165	L	0.52573	1.65	0.41585	D	0.988767	D;D;D	0.61080	0.975;0.989;0.989	P;P;P	0.61070	0.832;0.883;0.883	T	0.53521	-0.8427	10	0.12103	T	0.63	-15.5686	12.9933	0.58632	0.0:0.162:0.838:0.0	.	81;81;81	E9PKH8;A8K803;P11836	.;.;CD20_HUMAN	Y	81;81;81;84;81	ENSP00000314620:C81Y;ENSP00000433519:C81Y;ENSP00000433277:C81Y;ENSP00000437002:C84Y;ENSP00000374589:C81Y	ENSP00000314620:C81Y	C	+	2	0	MS4A1	59987133	0.935000	0.31712	0.997000	0.53966	0.912000	0.54170	0.688000	0.25422	1.477000	0.48234	0.655000	0.94253	TGT		0.502	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			42	102	0	0	0	1	0	42	102				
HYDIN	54768	broad.mit.edu	37	16	70908255	70908255	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:70908255T>G	ENST00000393567.2	-	64	11051	c.10901A>C	c.(10900-10902)gAg>gCg	p.E3634A	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3634					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTGTGAACTCAGAGATACT	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10900-10902)gAg>gCg		HYDIN, axonemal central pair apparatus protein							114.0	127.0	123.0					16																	70908255		1967	4161	6128	SO:0001583	missense	54768							g.chr16:70908255T>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10901A>C	16.37:g.70908255T>G	ENSP00000377197:p.Glu3634Ala						p.E3634A	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			64	11051	-		Ovarian(137;0.0654)	3634					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10901A>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177887	0.38413	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00912	5.55	3.95	3.95	0.45737	.	.	.	.	.	T	0.01222	0.0040	L	0.60455	1.87	0.80722	D	1	B	0.33318	0.408	B	0.30782	0.12	T	0.63550	-0.6612	9	0.14656	T	0.56	.	10.4546	0.44542	0.0:0.0:0.0:1.0	.	3633	F8WD23	.	A	3634;3633	ENSP00000377197:E3634A	ENSP00000313052:E3633A	E	-	2	0	HYDIN	69465756	0.577000	0.26708	0.384000	0.26145	0.038000	0.13279	2.225000	0.42954	1.634000	0.50500	0.418000	0.28097	GAG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			30	78	0	0	0	1	0	30	78				
KCNH4	23415	broad.mit.edu	37	17	40318406	40318406	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:40318406C>T	ENST00000264661.3	-	10	2081	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	KCNH4_ENST00000607371.1_Silent_p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	583					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACGGCGCAACAGGTACTCGC	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1747-1749)ctG>ctA		potassium voltage-gated channel, subfamily H (eag-related), member 4							62.0	56.0	58.0					17																	40318406		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318406C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1749G>A	17.37:g.40318406C>T						KCNH4_ENST00000607371.1_Silent_p.L583L	p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2081	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	583						Silent	SNP	ENST00000264661.3	37	c.1749G>A	CCDS11420.1																																																																																				0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		16	13	0	0	0	1	0	16	13				
CLCN1	1180	broad.mit.edu	37	7	143048836	143048836	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143048836G>A	ENST00000343257.2	+	23	2832	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	915					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGGCCTGGGGCCACTGGAA	0.622																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2743-2745)ggG>ggA		chloride channel, voltage-sensitive 1							46.0	44.0	45.0					7																	143048836		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048836G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2745G>A	7.37:g.143048836G>A							p.G915G	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			23	2832	+	Melanoma(164;0.205)		915					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2745G>A	CCDS5881.1																																																																																				0.622	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		28	53	0	0	0	1	0	28	53				
ACTN1	87	broad.mit.edu	37	14	69392326	69392326	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69392326C>G	ENST00000193403.6	-	2	552	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000376839.3_5'UTR	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	57	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGAAGTCCTCTTCGATGTTC	0.587																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(169-171)Gag>Cag		actinin, alpha 1							144.0	103.0	117.0					14																	69392326		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69392326C>G	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.169G>C	14.37:g.69392326C>G	ENSP00000193403:p.Glu57Gln					ACTN1_ENST00000376839.3_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q	p.E57Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	552	-			57			Actin-binding.|CH 1.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.169G>C	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834810	0.71373	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000538545;ENST00000556433;ENST00000556571;ENST00000553659	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.85	4.85	0.62838	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	L	0.33792	1.035	0.80722	D	1	B;B;B;B	0.25955	0.138;0.016;0.138;0.093	B;B;B;B	0.34242	0.08;0.033;0.08;0.178	D	0.90008	0.4119	10	0.48119	T	0.1	.	16.8934	0.86093	0.0:1.0:0.0:0.0	.	57;57;57;57	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	Q	57;57;57;57;36;34;56	ENSP00000193403:E57Q;ENSP00000377941:E57Q;ENSP00000414272:E57Q;ENSP00000439828:E57Q;ENSP00000450764:E36Q;ENSP00000452423:E34Q;ENSP00000451086:E56Q	ENSP00000193403:E57Q	E	-	1	0	ACTN1	68462079	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.343000	0.79319	2.505000	0.84491	0.563000	0.77884	GAG		0.587	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		27	17	0	0	0	1	0	27	17				
GNL3L	54552	broad.mit.edu	37	X	54566667	54566667	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:54566667A>C	ENST00000336470.4	+	4	320	c.181A>C	c.(181-183)Aag>Cag	p.K61Q	GNL3L_ENST00000360845.2_Missense_Mutation_p.K61Q|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	61					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGAATTAAAGAAGAAGTGGGT	0.498																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(181-183)Aag>Cag		guanine nucleotide binding protein-like 3 (nucleolar)-like							88.0	75.0	79.0					X																	54566667		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54566667A>C	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.181A>C	X.37:g.54566667A>C	ENSP00000338573:p.Lys61Gln					GNL3L_ENST00000360845.2_Missense_Mutation_p.K61Q|GNL3L_ENST00000489691.1_3'UTR	p.K61Q	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			4	320	+			61						Missense_Mutation	SNP	ENST00000336470.4	37	c.181A>C	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580642	0.28180	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.21932	1.98;1.98	4.29	2.9	0.33743	.	0.048455	0.85682	N	0.000000	T	0.20495	0.0493	M	0.69823	2.125	0.47214	D	0.999359	B	0.31077	0.307	B	0.21360	0.034	T	0.03306	-1.1050	10	0.48119	T	0.1	-19.9343	8.9688	0.35894	0.7814:0.2185:0.0:0.0	.	61	Q9NVN8	GNL3L_HUMAN	Q	61	ENSP00000338573:K61Q;ENSP00000354091:K61Q	ENSP00000338573:K61Q	K	+	1	0	GNL3L	54583392	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	1.774000	0.38573	0.593000	0.29745	0.486000	0.48141	AAG		0.498	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		8	42	0	0	0	1	0	8	42				
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1783-1785)ttA>ttG		progesterone immunomodulatory binding factor 1							50.0	51.0	51.0					13																	73505357		2203	4298	6501	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73505357A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1785A>G	13.37:g.73505357A>G							p.L595L	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2123	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	595					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.1785A>G	CCDS31991.1																																																																																				0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		13	30	0	0	0	1	0	13	30				
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTTGTCACACAAAAGAACTGT	0.328			"""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.(4837-4839)tTg>tAg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						40.0	37.0	38.0					X																	76889172		2202	4295	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889172A>T	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.4838T>A	X.37:g.76889172A>T	ENSP00000362441:p.Leu1613*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*|ATRX_ENST00000480283.1_5'UTR	p.L1613*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5052	-			1613			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4838T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	47	13.104150	0.99720	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.806	14.7118	0.69238	1.0:0.0:0.0:0.0	.	.	.	.	X	1613;1575	.	ENSP00000362441:L1613X	L	-	2	0	ATRX	76775828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.880000	0.92407	1.924000	0.55735	0.481000	0.45027	TTG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	28	0	0	0	1	0	13	28				
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CATTCACCAGAGGGTCCCCTG	0.488																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(640-642)agA>agC		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						126.0	124.0	125.0					8																	19811731		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811731A>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.642A>C	8.37:g.19811731A>C	ENSP00000309757:p.Arg214Ser						p.R214S	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1112	+			214					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.642A>C	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528628	0.64860	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.90324	-2.65	6.17	-1.84	0.07809	Lipase, N-terminal (1);	0.084191	0.85682	N	0.000000	D	0.90546	0.7037	L	0.46567	1.45	0.41022	D	0.985081	D	0.89917	1.0	D	0.97110	1.0	D	0.87592	0.2491	8	.	.	.	-35.532	6.6252	0.22826	0.4349:0.0:0.4364:0.1287	.	214	P06858	LIPL_HUMAN	S	214;138;200	ENSP00000309757:R214S	.	R	+	3	2	LPL	19856011	0.996000	0.38824	0.977000	0.42913	0.411000	0.31082	0.383000	0.20651	-0.536000	0.06298	-0.250000	0.11733	AGA		0.488	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			34	95	0	0	0	1	0	34	95				
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(214-216)aCc>aTc		keratin associated protein 10-1							44.0	51.0	49.0					21																	45959819		2197	4290	6487	SO:0001583	missense	386677					keratin filament		g.chr21:45959819G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.215C>T	21.37:g.45959819G>A	ENSP00000383226:p.Thr72Ile					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.T72I	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	259	-			72			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.215C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	2.677	-0.276175	0.05679	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00856	5.61	2.87	0.849	0.18972	.	.	.	.	.	T	0.02571	0.0078	M	0.73962	2.25	0.09310	N	1	P	0.50369	0.934	P	0.50314	0.637	T	0.35748	-0.9776	9	0.66056	D	0.02	.	9.5849	0.39510	0.0:0.4182:0.5818:0.0	.	72	P60331	KR101_HUMAN	I	72	ENSP00000383226:T72I	ENSP00000383226:T72I	T	-	2	0	KRTAP10-1	44784247	0.000000	0.05858	0.165000	0.22776	0.527000	0.34593	-0.068000	0.11561	0.064000	0.16427	0.491000	0.48974	ACC		0.711	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			4	171	0	0	0	1	0	4	171				
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1339-1341)Act>Gct		egf-like module containing, mucin-like, hormone receptor-like 3							155.0	117.0	130.0					19																	14749062		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14749062T>C	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1339A>G	19.37:g.14749062T>C	ENSP00000253673:p.Thr447Ala					EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	p.T447A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			11	1439	-			447						Missense_Mutation	SNP	ENST00000253673.5	37	c.1339A>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	7.099	0.573713	0.13623	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.24723	1.84;1.84;1.84	4.34	2.25	0.28309	GPCR, family 2-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.31526	0.94	0.24908	N	0.992064	P;P;P	0.45902	0.655;0.828;0.868	P;B;P	0.52758	0.534;0.365;0.708	T	0.10291	-1.0636	9	0.72032	D	0.01	.	7.1925	0.25834	0.0:0.1875:0.0:0.8125	.	321;395;447	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	A	321;447;395	ENSP00000396208:T321A;ENSP00000253673:T447A;ENSP00000340758:T395A	ENSP00000253673:T447A	T	-	1	0	EMR3	14610062	1.000000	0.71417	0.743000	0.31040	0.002000	0.02628	2.421000	0.44688	0.225000	0.20959	-0.924000	0.02725	ACT		0.572	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		48	58	0	0	0	1	0	48	58				
GLTSCR2	29997	broad.mit.edu	37	19	48249018	48249018	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:48249018C>T	ENST00000246802.5	+	1	240	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	68						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGAAGACGTGCGGCTACAGGA	0.692																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(202-204)Cgg>Tgg		glioma tumor suppressor candidate region gene 2							9.0	11.0	11.0					19																	48249018		2187	4277	6464	SO:0001583	missense	29997					nucleolus		g.chr19:48249018C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.202C>T	19.37:g.48249018C>T	ENSP00000246802:p.Arg68Trp					GLTSCR2_ENST00000598681.1_3'UTR	p.R68W	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	240	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	68					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.202C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199754	0.79015	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.55052	0.54	4.25	3.17	0.36434	.	0.000000	0.64402	D	0.000001	T	0.69940	0.3167	M	0.81497	2.545	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.71856	-0.4466	10	0.87932	D	0	-22.6218	9.4944	0.38980	0.2114:0.7886:0.0:0.0	.	68;68;66	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	W	68	ENSP00000246802:R68W	ENSP00000246802:R68W	R	+	1	2	GLTSCR2	52940830	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.043000	0.13971	0.853000	0.35312	0.655000	0.94253	CGG		0.692	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	25	0	0	0	1	0	3	25				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	121	0	0	0	1	0	8	121				
ZNF254	9534	broad.mit.edu	37	19	24309870	24309870	+	Silent	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:24309870C>G	ENST00000357002.4	+	4	1183	c.1068C>G	c.(1066-1068)ggC>ggG	p.G356G	ZNF254_ENST00000342944.6_Silent_p.G271G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	356					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGAATGTGGCAAAGCTTTTA	0.398																																						ENST00000357002.4																			0											c.(1066-1068)ggC>ggG		zinc finger protein 254							59.0	60.0	60.0					19																	24309870		2202	4294	6496	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309870C>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1068C>G	19.37:g.24309870C>G						ZNF254_ENST00000342944.6_Silent_p.G271G	p.G356G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1183	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	356					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1068C>G	CCDS32983.1																																																																																				0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		27	37	0	0	0	1	0	27	37				
PTOV1	53635	broad.mit.edu	37	19	50358106	50358106	+	Silent	SNP	G	G	A	rs371342339		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:50358106G>A	ENST00000601675.1	+	4	515	c.411G>A	c.(409-411)ccG>ccA	p.P137P	PTOV1_ENST00000221557.9_Silent_p.P105P|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000598325.1_3'UTR|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000600603.1_Silent_p.P105P|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.P105P|PTOV1_ENST00000391842.1_Silent_p.P137P|PTOV1_ENST00000599732.1_Silent_p.P137P			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCAGTGGCCGCAGAAGCTGA	0.667																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(409-411)ccG>ccA		prostate tumor overexpressed 1		G		1,4405	2.1+/-5.4	0,1,2202	42.0	44.0	43.0		411	-7.3	0.4	19		43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PTOV1	NM_017432.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		137/417	50358106	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50358106G>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.411G>A	19.37:g.50358106G>A						PTOV1_ENST00000221557.9_Silent_p.P105P|PTOV1_ENST00000601675.1_Silent_p.P137P|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.P105P|PTOV1_ENST00000599732.1_Silent_p.P137P|PTOV1_ENST00000601638.1_Silent_p.P105P|AC018766.6_ENST00000601211.1_RNA	p.P137P	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	4	581	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	137					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.411G>A	CCDS12782.1																																																																																				0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		3	41	0	0	0	1	0	3	41				
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197). {ECO:0000269|PubMed:15489334}.		ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(475-477)ctT>ctG		osteoclast stimulating factor 1							172.0	146.0	155.0					9																	77752522		2203	4300	6503	SO:0001819	synonymous_variant	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77752522T>G	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.477T>G	9.37:g.77752522T>G							p.L159L	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			8	627	+			159		L -> F (in dbSNP:rs17850197).			Q5W126|Q96IJ4	Silent	SNP	ENST00000346234.6	37	c.477T>G	CCDS6651.1																																																																																				0.388	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		10	33	0	0	0	1	0	10	33				
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000479441.1	-	9	860	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000435965.1_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTGGGTGACGAGGCCCCCT	0.567																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(859-861)tcG>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						141.0	121.0	128.0					3																	50417431		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417431C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.861G>A	3.37:g.50417431C>T						CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S	p.S287S			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	9	1034	-			287					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.861G>A	CCDS54588.1																																																																																				0.567	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		19	34	0	0	0	1	0	19	34				
NDFIP2	54602	broad.mit.edu	37	13	80107548	80107548	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:80107548A>T	ENST00000218652.7	+	3	630	c.578A>T	c.(577-579)aAa>aTa	p.K193I		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	193					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GAGAAGGCTAAAGCTGCTGCA	0.388																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(577-579)aAa>aTa		Nedd4 family interacting protein 2							54.0	50.0	51.0					13																	80107548		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80107548A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.578A>T	13.37:g.80107548A>T	ENSP00000218652:p.Lys193Ile						p.K193I	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	3	630	+		Acute lymphoblastic leukemia(28;0.205)	193					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.578A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857965	0.91433	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.54675	0.78;0.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76055	-0.3099	10	0.87932	D	0	-12.9143	14.5939	0.68392	1.0:0.0:0.0:0.0	.	99;193	B4DGY6;Q9NV92	.;NFIP2_HUMAN	I	193;110	ENSP00000218652:K193I;ENSP00000419200:K110I	ENSP00000218652:K193I	K	+	2	0	NDFIP2	79005549	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	AAA		0.388	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			6	30	0	0	0	1	0	6	30				
KRTAP5-4	387267	broad.mit.edu	37	11	1643246	1643246	+	Silent	SNP	A	A	G	rs142004120	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:1643246A>G	ENST00000399682.1	-	1	122	c.78T>C	c.(76-78)tcT>tcC	p.S26S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccagagccacagc	0.682													-|||	374	0.0746805	0.0908	0.0562	5008	,	,		7183	0.0923		0.0596	False		,,,				2504	0.0634					ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(76-78)tcT>tcC		keratin associated protein 5-4							4.0	8.0	7.0					11																	1643246		639	1494	2133	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643246A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.78T>C	11.37:g.1643246A>G							p.S26S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	122	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	26						Silent	SNP	ENST00000399682.1	37	c.78T>C																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		5	87	0	0	0	1	0	5	87				
BCL9L	283149	broad.mit.edu	37	11	118773105	118773105	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:118773105A>G	ENST00000334801.3	-	6	2311	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	449	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGGGGGGGAGGGGGGGCTT	0.667																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1345-1347)ccT>ccC		B-cell CLL/lymphoma 9-like							10.0	15.0	13.0					11																	118773105		1729	3622	5351	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773105A>G	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1347T>C	11.37:g.118773105A>G						BCL9L_ENST00000526143.1_5'UTR	p.P449P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2311	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	449			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.1347T>C	CCDS8403.1																																																																																				0.667	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	53	0	0	0	1	0	7	53				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	41	0	0	0	1	0	26	41				
MTO1	25821	broad.mit.edu	37	6	74183326	74183326	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	ENST00000370300.4	+	4	864	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_ENST00000498286.1_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P|MTO1_ENST00000415954.2_Silent_p.P258P	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	258					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(772-774)ccG>ccA		mitochondrial tRNA translation optimization 1							84.0	80.0	82.0					6																	74183326		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74183326G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.774G>A	6.37:g.74183326G>A						MTO1_ENST00000415954.2_Silent_p.P258P|MTO1_ENST00000370300.4_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P	p.P258P			Q9Y2Z2	MTO1_HUMAN			4	1051	+			258					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.774G>A	CCDS4979.1																																																																																				0.423	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		15	36	0	0	0	1	0	15	36				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	36	0	0	0	1	0	19	36				
FAM129A	116496	broad.mit.edu	37	1	184868376	184868376	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:184868376C>T	ENST00000367511.3	-	2	315	c.122G>A	c.(121-123)tGc>tAc	p.C41Y		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	41					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACGTGATTGCAGAAAGCCAC	0.393																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(121-123)tGc>tAc		family with sequence similarity 129, member A							148.0	137.0	141.0					1																	184868376		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184868376C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.122G>A	1.37:g.184868376C>T	ENSP00000356481:p.Cys41Tyr						p.C41Y	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			2	315	-			41					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.122G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521160	0.27211	.	.	ENSG00000135842	ENST00000367511	T	0.10668	2.85	5.61	5.61	0.85477	.	0.096958	0.64402	D	0.000001	T	0.16896	0.0406	L	0.60455	1.87	0.46317	D	0.998983	B	0.28178	0.202	B	0.33121	0.158	T	0.01273	-1.1399	10	0.59425	D	0.04	-9.832	16.5587	0.84534	0.0:1.0:0.0:0.0	.	41	Q9BZQ8	NIBAN_HUMAN	Y	41	ENSP00000356481:C41Y	ENSP00000356481:C41Y	C	-	2	0	FAM129A	183134999	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	2.093000	0.41710	2.640000	0.89533	0.655000	0.94253	TGC		0.393	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			17	120	0	0	0	1	0	17	120				
EP400	57634	broad.mit.edu	37	12	132547135	132547135	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:132547135G>A	ENST00000333577.4	+	48	8440	c.8331G>A	c.(8329-8331)caG>caA	p.Q2777Q	EP400_ENST00000389562.2_Silent_p.Q2740Q|EP400_ENST00000389561.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2704Q|EP400_ENST00000330386.6_Silent_p.Q2660Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagc	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8329-8331)caG>caA		E1A binding protein p400							44.0	37.0	39.0					12																	132547135		2202	4299	6501	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547135G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8331G>A	12.37:g.132547135G>A						EP400_ENST00000332482.4_Silent_p.Q2704Q|EP400_ENST00000389562.2_Silent_p.Q2740Q|EP400_ENST00000389561.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2660Q	p.Q2777Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8331G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	92	0	0	0	1	0	4	92				
FEZ1	9638	broad.mit.edu	37	11	125325916	125325916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:125325916G>A	ENST00000278919.3	-	6	988	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	252					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCCAGCTGCTGCACCAGCTCC	0.592																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(754-756)Cag>Tag		fasciculation and elongation protein zeta 1 (zygin I)							62.0	64.0	63.0					11																	125325916		2201	4299	6500	SO:0001587	stop_gained	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125325916G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.754C>T	11.37:g.125325916G>A	ENSP00000278919:p.Gln252*					FEZ1_ENST00000527350.1_5'UTR	p.Q252*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	6	988	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	252					O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	ENST00000278919.3	37	c.754C>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	G	37	6.204419	0.97376	.	.	ENSG00000149557	ENST00000278919	.	.	.	5.65	5.65	0.86999	.	0.509177	0.23863	N	0.043829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.0223	15.9502	0.79827	0.0:0.1351:0.8649:0.0	.	.	.	.	X	252	.	ENSP00000278919:Q252X	Q	-	1	0	FEZ1	124831126	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.739000	0.47409	2.660000	0.90430	0.655000	0.94253	CAG		0.592	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		33	93	0	0	0	1	0	33	93				
TAOK1	57551	broad.mit.edu	37	17	27844568	27844568	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:27844568C>G	ENST00000261716.3	+	16	2321	c.1802C>G	c.(1801-1803)gCt>gGt	p.A601G	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	601					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGAAGAAGCTAACCTTCTT	0.438																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1801-1803)gCt>gGt		TAO kinase 1							166.0	169.0	168.0					17																	27844568		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27844568C>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1802C>G	17.37:g.27844568C>G	ENSP00000261716:p.Ala601Gly					TAOK1_ENST00000536202.1_Intron	p.A601G	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		16	2321	+			601					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1802C>G	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752857	0.96890	.	.	ENSG00000160551	ENST00000261716	T	0.56611	0.45	5.93	5.93	0.95920	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75479	-0.3303	10	0.51188	T	0.08	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	601	Q7L7X3	TAOK1_HUMAN	G	601	ENSP00000261716:A601G	ENSP00000261716:A601G	A	+	2	0	TAOK1	24868694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.826000	0.97356	0.655000	0.94253	GCT		0.438	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		7	213	0	0	0	1	0	7	213				
LOC101927209	101927209	broad.mit.edu	37	1	142713875	142713875	+	lincRNA	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:142713875G>C	ENST00000610091.1	-	0	1783																											TCCTGATTATGAAAATCCTAA	0.299																																						ENST00000369381.2																			0																																																			0							g.chr1:142713875G>C																													1.37:g.142713875G>C														0	730	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.299	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			14	33	0	0	0	1	0	14	33				
PKHD1L1	93035	broad.mit.edu	37	8	110457221	110457221	+	Missense_Mutation	SNP	C	C	T	rs374206571	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:110457221C>T	ENST00000378402.5	+	38	5227	c.5123C>T	c.(5122-5124)aCg>aTg	p.T1708M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1708	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGAATTATACGGCCATTGAA	0.458										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5122-5124)aCg>aTg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		C	MET/THR	0,3786		0,0,1893	197.0	189.0	192.0		5123	6.2	0.4	8		192	1,8239		0,1,4119	no	missense	PKHD1L1	NM_177531.4	81	0,1,6012	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1708/4244	110457221	1,12025	1893	4120	6013	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457221C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5123C>T	8.37:g.110457221C>T	ENSP00000367655:p.Thr1708Met	HNSCC(38;0.096)					p.T1708M	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5227	+			1708			IPT/TIG 9.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5123C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145696	0.57044	0.0	1.21E-4	ENSG00000205038	ENST00000378402	T	0.80566	-1.39	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057667	0.64402	D	0.000002	D	0.89722	0.6797	M	0.78637	2.42	0.40397	D	0.979602	D	0.76494	0.999	D	0.67900	0.954	D	0.90262	0.4301	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	1708	Q86WI1	PKHL1_HUMAN	M	1708	ENSP00000367655:T1708M	ENSP00000367655:T1708M	T	+	2	0	PKHD1L1	110526397	0.993000	0.37304	0.361000	0.25849	0.114000	0.19823	6.240000	0.72363	2.941000	0.99782	0.655000	0.94253	ACG		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	241	0	0	0	1	0	5	241				
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000327087.8_Missense_Mutation_p.T792N|ANO2_ENST00000546188.1_Missense_Mutation_p.T793N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	797					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2377-2379)aCc>aAc		anoctamin 2							89.0	94.0	92.0					12																	5687543		1979	4164	6143	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687543G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2378C>A	12.37:g.5687543G>T	ENSP00000348453:p.Thr793Asn					ANO2_ENST00000356134.5_Missense_Mutation_p.T793N|ANO2_ENST00000327087.8_Missense_Mutation_p.T792N	p.T793N			Q9NQ90	ANO2_HUMAN			22	2449	-			797					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2378C>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.489852	0.44249	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.63255	-0.03;-0.03;-0.03	5.3	5.3	0.74995	.	0.060136	0.64402	D	0.000004	T	0.62696	0.2449	L	0.52011	1.625	0.41232	D	0.986584	P	0.39940	0.696	B	0.43838	0.433	T	0.67914	-0.5547	10	0.87932	D	0	.	14.4773	0.67554	0.0:0.0:0.8528:0.1472	.	792	Q9NQ90-3	.	N	792;793;793;797	ENSP00000314048:T792N;ENSP00000348453:T793N;ENSP00000440981:T793N	ENSP00000314048:T792N	T	-	2	0	ANO2	5557804	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.578000	0.67450	2.493000	0.84123	0.655000	0.94253	ACC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		28	39	1	0	1.17739e-12	1	1.19108e-12	28	39				
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000586659.1	-	4	624	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000432929.2_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(310-312)Ggc>Agc		KN motif and ankyrin repeat domains 2		C	SER/GLY,SER/GLY	0,4398		0,0,2199	45.0	49.0	48.0		310,310	4.4	1.0	19	dbSNP_134	48	1,8577		0,1,4288	no	missense,missense	KANK2	NM_001136191.2,NM_015493.6	56,56	0,1,6487	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	104/852,104/860	11304446	1,12975	2199	4289	6488	SO:0001583	missense	25959							g.chr19:11304446C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.310G>A	19.37:g.11304446C>T	ENSP00000465650:p.Gly104Ser					KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S	p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	670	-			104					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.310G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481065	0.63849	0.0	1.17E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39229	1.09;1.11	4.38	4.38	0.52667	.	0.074876	0.53938	D	0.000041	T	0.49660	0.1570	L	0.31065	0.9	0.46149	D	0.998897	D;P;D	0.89917	1.0;0.785;1.0	D;B;D	0.91635	0.999;0.114;0.99	T	0.35968	-0.9767	10	0.14656	T	0.56	-27.8474	15.7129	0.77644	0.0:1.0:0.0:0.0	.	104;104;104	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	S	104	ENSP00000395650:G104S;ENSP00000347276:G104S	ENSP00000347276:G104S	G	-	1	0	KANK2	11165446	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	6.332000	0.72934	1.986000	0.57962	0.462000	0.41574	GGC		0.667	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		46	93	0	0	0	1	0	46	93				
OR2F1	26211	broad.mit.edu	37	7	143657342	143657342	+	Silent	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143657342A>T	ENST00000392899.1	+	1	316	c.279A>T	c.(277-279)ccA>ccT	p.P93P	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	93					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGCCATCCCATTCCAGAGCT	0.507																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(277-279)ccA>ccT		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							179.0	168.0	172.0					7																	143657342		2203	4298	6501	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657342A>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.279A>T	7.37:g.143657342A>T							p.P93P	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	316	+	Melanoma(164;0.0903)		93					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.279A>T	CCDS5887.1																																																																																				0.507	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			68	163	0	0	0	1	0	68	163				
OR5W2	390148	broad.mit.edu	37	11	55681268	55681268	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:55681268G>T	ENST00000344514.1	-	1	790	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S264F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGGAAGAACTTGGCCG	0.448																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			1	Substitution - Missense(1)	p.S264F(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(790-792)tCt>tAt		olfactory receptor, family 5, subfamily W, member 2							80.0	91.0	88.0					11																	55681268		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681268G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.791C>A	11.37:g.55681268G>T	ENSP00000342448:p.Ser264Tyr						p.S264Y	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	790	-			264						Missense_Mutation	SNP	ENST00000344514.1	37	c.791C>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979397	0.34942	.	.	ENSG00000187612	ENST00000344514	T	0.00274	8.35	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001243	T	0.00724	0.0024	M	0.92604	3.325	0.09310	N	1	B	0.33477	0.413	P	0.47015	0.534	T	0.02121	-1.1210	10	0.72032	D	0.01	.	15.8124	0.78576	0.0:0.0:1.0:0.0	.	264	Q8NH69	OR5W2_HUMAN	Y	264	ENSP00000342448:S264Y	ENSP00000342448:S264Y	S	-	2	0	OR5W2	55437844	0.000000	0.05858	0.591000	0.28745	0.467000	0.32768	-0.237000	0.08990	2.311000	0.77944	0.549000	0.68633	TCT		0.448	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		21	51	1	0	9.95505e-16	1	1.01893e-15	21	51				
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	202					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(604-606)Att>Gtt		eyes absent homolog 3 (Drosophila)							116.0	111.0	113.0					1																	28339787		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339787T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.604A>G	1.37:g.28339787T>C	ENSP00000362978:p.Ile202Val					EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V	p.I202V			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	844	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	202					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.604A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937636	0.52972	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;T;T;T	0.92858	-2.83;-3.12;-3.07;-1.38;-1.38;-1.38	5.45	5.45	0.79879	.	0.206525	0.51477	D	0.000096	D	0.93259	0.7852	L	0.40543	1.245	0.48087	D	0.999586	P;P;P	0.52061	0.876;0.897;0.95	D;P;P	0.64595	0.927;0.609;0.707	D	0.91779	0.5434	10	0.26408	T	0.33	-19.1909	15.8132	0.78581	0.0:0.0:0.0:1.0	.	156;156;202	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	202;76;46;156;149;156	ENSP00000362978:I202V;ENSP00000405587:I76V;ENSP00000362971:I46V;ENSP00000442558:I156V;ENSP00000442280:I149V;ENSP00000362970:I156V	ENSP00000362970:I156V	I	-	1	0	EYA3	28212374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.723000	0.54955	2.196000	0.70406	0.533000	0.62120	ATT		0.453	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		32	87	0	0	0	1	0	32	87				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						ENST00000264771.4																			1	Substitution - Missense(1)	p.H484P(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1450-1452)cAc>cCc		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	p.H484P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1636	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	10	0	0	0	1	0	8	10				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	11	0	0	0	1	0	33	11				
ZNF721	170960	broad.mit.edu	37	4	419666	419666	+	IGR	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:419666C>T	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAAGGTAGCCTGAGAGAGGC	0.453																																						ENST00000451020.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr4:419666C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419666C>T								NR_002451.2						0	1372	-								Q69YG7	RNA	SNP	ENST00000506646.1	37																																																																																						0.453	ZNF721-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000357869.2	NM_133474		14	29	0	0	0	1	0	14	29				
AACS	65985	broad.mit.edu	37	12	125587606	125587606	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:125587606A>G	ENST00000316519.6	+	7	952	c.746A>G	c.(745-747)gAc>gGc	p.D249G	AACS_ENST00000261686.6_Missense_Mutation_p.D249G|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	249					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGAACATAGACCTTTCAAAG	0.507																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(745-747)gAc>gGc		acetoacetyl-CoA synthetase							164.0	167.0	166.0					12																	125587606		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125587606A>G	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.746A>G	12.37:g.125587606A>G	ENSP00000324842:p.Asp249Gly					AACS_ENST00000261686.6_Missense_Mutation_p.D249G	p.D249G	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	7	952	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		249					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.746A>G	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979354	0.34942	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000537564;ENST00000441247	T;T;T	0.40225	1.04;1.04;1.04	5.5	5.5	0.81552	AMP-dependent synthetase/ligase (1);	0.044282	0.85682	D	0.000000	T	0.42787	0.1218	L	0.41710	1.295	0.80722	D	1	P;P	0.40398	0.716;0.629	B;B	0.44315	0.407;0.446	T	0.35748	-0.9776	10	0.51188	T	0.08	.	15.29	0.73859	1.0:0.0:0.0:0.0	.	249;249	Q86V21-2;Q86V21	.;AACS_HUMAN	G	249;249;105;80;30;68	ENSP00000324842:D249G;ENSP00000261686:D249G;ENSP00000392967:D68G	ENSP00000261686:D249G	D	+	2	0	AACS	124153559	1.000000	0.71417	0.486000	0.27416	0.019000	0.09904	8.135000	0.89608	2.080000	0.62538	0.454000	0.30748	GAC		0.507	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		57	132	0	0	0	1	0	57	132				
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000358544.2	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000395996.1_Missense_Mutation_p.I1091V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3271-3273)Att>Gtt		vacuolar protein sorting 13 homolog B (yeast)							169.0	158.0	162.0					8																	100454689		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454689A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3271A>G	8.37:g.100454689A>G	ENSP00000351346:p.Ile1091Val					VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V	p.I1091V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3382	+	Breast(36;3.73e-07)		1091					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3271A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464060	0.63513	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46063	0.88;0.88;0.88	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	N	0.24115	0.695	0.49582	D	0.999808	P;D;D;P	0.59357	0.949;0.958;0.985;0.901	P;D;D;B	0.69307	0.63;0.963;0.952;0.433	T	0.39099	-0.9630	10	0.22109	T	0.4	.	15.9886	0.80183	1.0:0.0:0.0:0.0	.	1090;1091;1091;1091	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	V	1091	ENSP00000349685:I1091V;ENSP00000351346:I1091V;ENSP00000379318:I1091V	ENSP00000349685:I1091V	I	+	1	0	VPS13B	100523865	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.634000	0.91002	2.178000	0.69098	0.482000	0.46254	ATT		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		33	64	0	0	0	1	0	33	64				
PRMT6	55170	broad.mit.edu	37	1	107599651	107599651	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:107599651C>A	ENST00000370078.1	+	1	351	c.314C>A	c.(313-315)gCc>gAc	p.A105D	PRMT6_ENST00000361318.5_Missense_Mutation_p.A46D			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	105	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CAGGCCGGGGCCCGGCGCGTG	0.692																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(136-138)gCc>gAc		protein arginine methyltransferase 6							29.0	35.0	33.0					1																	107599651		1953	4134	6087	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599651C>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.314C>A	1.37:g.107599651C>A	ENSP00000359095:p.Ala105Asp					PRMT6_ENST00000370078.1_Missense_Mutation_p.A105D	p.A46D	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	385	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	105					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.137C>A	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893525	0.72639	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.34072	1.38;1.38	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57312	-0.7833	10	0.87932	D	0	-11.9428	17.1962	0.86893	0.0:1.0:0.0:0.0	.	105	Q96LA8	ANM6_HUMAN	D	46;105	ENSP00000355145:A46D;ENSP00000359095:A105D	ENSP00000355145:A46D	A	+	2	0	PRMT6	107401174	1.000000	0.71417	0.999000	0.59377	0.210000	0.24377	6.871000	0.75531	2.640000	0.89533	0.544000	0.68410	GCC		0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		22	48	1	0	7.45023e-12	1	7.45023e-12	22	48				
WDR54	84058	broad.mit.edu	37	2	74652087	74652087	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:74652087G>A	ENST00000348227.4	+	7	708	c.620G>A	c.(619-621)cGc>cAc	p.R207H	WDR54_ENST00000409791.1_Missense_Mutation_p.R155H|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	207										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TTATTGACCCGCATTCCAGGA	0.527																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(619-621)cGc>cAc		WD repeat domain 54							161.0	136.0	145.0					2																	74652087		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652087G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.620G>A	2.37:g.74652087G>A	ENSP00000006526:p.Arg207His					WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.R155H	p.R207H	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			7	708	+			207					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.620G>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748204	0.30955	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	T;T	0.52526	0.66;0.66	5.01	0.251	0.15540	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.279079	0.32624	N	0.005847	T	0.33177	0.0854	L	0.47716	1.5	0.26504	N	0.974725	B	0.14012	0.009	B	0.11329	0.006	T	0.26815	-1.0092	10	0.13470	T	0.59	-0.3633	8.353	0.32314	0.5051:0.0:0.4949:0.0	.	207	Q9H977	WDR54_HUMAN	H	155;207	ENSP00000387236:R155H;ENSP00000006526:R207H	ENSP00000006526:R207H	R	+	2	0	WDR54	74505595	0.101000	0.21875	0.758000	0.31321	0.984000	0.73092	0.314000	0.19432	-0.135000	0.11495	0.561000	0.74099	CGC		0.527	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		4	125	0	0	0	1	0	4	125				
MUC17	140453	broad.mit.edu	37	7	100685793	100685793	+	Missense_Mutation	SNP	T	T	C	rs373536556		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:100685793T>C	ENST00000306151.4	+	3	11160	c.11096T>C	c.(11095-11097)aTg>aCg	p.M3699T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3699	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTAACAACTATGCCTGTCAGC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11095-11097)aTg>aCg		mucin 17, cell surface associated							221.0	207.0	212.0					7																	100685793		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685793T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11096T>C	7.37:g.100685793T>C	ENSP00000302716:p.Met3699Thr						p.M3699T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11160	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3699			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11096T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	2.828	-0.243209	0.05906	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.806	-0.674	0.11369	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	P	0.47962	0.903	P	0.62560	0.904	T	0.41610	-0.9499	9	0.10902	T	0.67	.	4.285	0.10850	0.0:0.5266:0.0:0.4734	.	3699	Q685J3	MUC17_HUMAN	T	3699	ENSP00000302716:M3699T	ENSP00000302716:M3699T	M	+	2	0	MUC17	100472513	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.113000	0.03296	-0.224000	0.09928	0.347000	0.21830	ATG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	277	0	0	0	1	0	5	277				
CCKAR	886	broad.mit.edu	37	4	26487511	26487511	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:26487511A>T	ENST00000295589.3	-	3	568	c.374T>A	c.(373-375)gTg>gAg	p.V125E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	125					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGATACACTCACAGAGGTGCC	0.433																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(373-375)gTg>gAg		cholecystokinin A receptor	Ceruletide(DB00403)						35.0	36.0	35.0					4																	26487511		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487511A>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.374T>A	4.37:g.26487511A>T	ENSP00000295589:p.Val125Glu						p.V125E	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			3	568	-		Breast(46;0.0503)	125					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.374T>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453370	0.84209	.	.	ENSG00000163394	ENST00000295589	T	0.21031	2.03	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.060339	0.64402	D	0.000003	T	0.62527	0.2435	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77606	-0.2525	10	0.87932	D	0	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	125	P32238	CCKAR_HUMAN	E	125	ENSP00000295589:V125E	ENSP00000295589:V125E	V	-	2	0	CCKAR	26096609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.101000	0.63845	0.528000	0.53228	GTG		0.433	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	21	0	0	0	1	0	8	21				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			7	95	0	0	0	1	0	7	95				
CDH1	999	broad.mit.edu	37	16	68842417	68842417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:68842417C>T	ENST00000261769.5	+	4	669	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P160S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTATTCCTCCCATCAGCTG	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.V157_Q177del(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(478-480)Ccc>Tcc		cadherin 1, type 1, E-cadherin (epithelial)							72.0	71.0	71.0					16																	68842417		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68842417C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.478C>T	16.37:g.68842417C>T	ENSP00000261769:p.Pro160Ser					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P160S	p.P160S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	4	669	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	160			Cadherin 1.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.478C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339136	0.41398	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.73152	-0.72;-0.72	5.87	5.87	0.94306	Cadherin-like (2);	0.000000	0.50627	D	0.000109	D	0.85048	0.5608	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	D	0.85055	0.0931	10	0.72032	D	0.01	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	160;160	Q9UII8;P12830	.;CADH1_HUMAN	S	160	ENSP00000261769:P160S;ENSP00000414946:P160S	ENSP00000261769:P160S	P	+	1	0	CDH1	67399918	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.655000	0.67981	2.941000	0.99782	0.655000	0.94253	CCC		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		26	52	0	0	0	1	0	26	52				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	103	0	0	0	1	0	6	103				
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(178-180)atC>atT		ADAM metallopeptidase domain 20							127.0	97.0	107.0					14																	70991445		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991445G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.180C>T	14.37:g.70991445G>A						RP11-486O13.4_ENST00000556646.1_lincRNA	p.I60I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	424	-			10					Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.180C>T	CCDS32111.1																																																																																				0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			41	42	0	0	0	1	0	41	42				
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(583-585)gGt>gCt		X-linked inhibitor of apoptosis							112.0	99.0	103.0					X																	123020096		2203	4300	6503	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123020096G>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.584G>C	X.37:g.123020096G>C	ENSP00000360242:p.Gly195Ala					XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	883	+			195					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.584G>C	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304603	0.23736	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.73681	-0.77;-0.77;-0.77	5.74	0.0126	0.14092	Baculoviral inhibition of apoptosis protein repeat (5);	0.576393	0.18138	N	0.150511	T	0.62938	0.2469	L	0.53561	1.675	0.09310	N	0.999999	B	0.20052	0.041	B	0.20767	0.031	T	0.49173	-0.8967	9	.	.	.	.	6.1416	0.20263	0.5:0.1319:0.3681:0.0	.	195	P98170	XIAP_HUMAN	A	195	ENSP00000395230:G195A;ENSP00000360242:G195A;ENSP00000347858:G195A	.	G	+	2	0	XIAP	122847777	0.104000	0.21937	0.996000	0.52242	0.984000	0.73092	0.570000	0.23653	0.007000	0.14760	-0.520000	0.04383	GGT		0.458	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		23	80	0	0	0	1	0	23	80				
ACAN	176	broad.mit.edu	37	15	89388996	89388996	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:89388996G>A	ENST00000561243.1	+	6	1312	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	ACAN_ENST00000352105.7_Missense_Mutation_p.E438K|ACAN_ENST00000558207.1_Missense_Mutation_p.E438K|ACAN_ENST00000439576.2_Missense_Mutation_p.E438K|ACAN_ENST00000559004.1_Missense_Mutation_p.E438K			P16112	PGCA_HUMAN	aggrecan	438					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGACTGGAGAGGCCACCAG	0.647																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1312-1314)Gag>Aag		aggrecan							28.0	34.0	32.0					15																	89388996		2030	4173	6203	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89388996G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1312G>A	15.37:g.89388996G>A	ENSP00000453342:p.Glu438Lys					ACAN_ENST00000561243.1_Missense_Mutation_p.E438K|ACAN_ENST00000559004.1_Missense_Mutation_p.E438K|ACAN_ENST00000558207.1_Missense_Mutation_p.E438K|ACAN_ENST00000352105.7_Missense_Mutation_p.E438K	p.E438K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1686	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		438					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1312G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280712	0.40294	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02216	4.62;4.39	5.07	4.14	0.48551	.	.	.	.	.	T	0.02807	0.0084	L	0.48642	1.525	0.31263	N	0.692644	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.14578	0.011;0.011;0.001	T	0.12630	-1.0540	9	0.19590	T	0.45	-6.8736	10.1847	0.42991	0.0949:0.0:0.9051:0.0	.	438;438;438	E7ENV9;E7EX88;Q6PID9	.;.;.	K	438	ENSP00000387356:E438K;ENSP00000341615:E438K	ENSP00000268134:E438K	E	+	1	0	ACAN	87190000	0.987000	0.35691	0.633000	0.29310	0.399000	0.30720	3.566000	0.53805	1.248000	0.43934	0.591000	0.81541	GAG		0.647	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		9	11	0	0	0	1	0	9	11				
PDS5A	23244	broad.mit.edu	37	4	39874664	39874664	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:39874664G>A	ENST00000303538.8	-	21	2917	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTCATTGGGGAAGCAAACTG	0.363																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2377-2379)tCc>tTc		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							68.0	64.0	65.0					4																	39874664		1836	4091	5927	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39874664G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2378C>T	4.37:g.39874664G>A	ENSP00000303427:p.Ser793Phe						p.S793F	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			21	2917	-			793						Missense_Mutation	SNP	ENST00000303538.8	37	c.2378C>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043525	0.55003	.	.	ENSG00000121892	ENST00000303538	T	0.66280	-0.2	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	N	0.22421	0.69	0.80722	D	1	P	0.43578	0.811	P	0.51135	0.66	T	0.57195	-0.7853	9	.	.	.	-5.3361	19.6996	0.96048	0.0:0.0:1.0:0.0	.	793	Q29RF7	PDS5A_HUMAN	F	793	ENSP00000303427:S793F	.	S	-	2	0	PDS5A	39551059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.845000	0.86875	2.662000	0.90505	0.655000	0.94253	TCC		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	7	0	0	0	1	0	3	7				
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(331-333)tcT>tcC		ribosomal protein S6 kinase, 90kDa, polypeptide 6							35.0	32.0	33.0					X																	83403057		2200	4292	6492	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83403057A>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.333T>C	X.37:g.83403057A>G						RPS6KA6_ENST00000543399.1_Silent_p.S111S	p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			4	340	-			111			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.333T>C	CCDS14451.1																																																																																				0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		13	27	0	0	0	1	0	13	27				
ACBD5	91452	broad.mit.edu	37	10	27524038	27524038	+	Silent	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:27524038A>C	ENST00000375888.1	-	2	343	c.279T>G	c.(277-279)ccT>ccG	p.P93P	ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000375897.3_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375901.1_Intron|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000396271.3_Silent_p.P95P			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCAATAGGATCCCAAA	0.313																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(283-285)ccT>ccG		acyl-CoA binding domain containing 5							55.0	54.0	54.0					10																	27524038		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27524038A>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.279T>G	10.37:g.27524038A>C						ACBD5_ENST00000375888.1_Silent_p.P93P|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375897.3_Intron	p.P95P	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			3	411	-			93			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.285T>G																																																																																					0.313	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		11	29	0	0	0	1	0	11	29				
LATS2	26524	broad.mit.edu	37	13	21563436	21563436	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:21563436C>T	ENST00000382592.4	-	4	888	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LATS2_ENST00000542899.1_Silent_p.G161G|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGCATGAGCCCCTTTCCTG	0.607																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(481-483)ggG>ggA		large tumor suppressor kinase 2							67.0	53.0	58.0					13																	21563436		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563436C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.483G>A	13.37:g.21563436C>T						LATS2_ENST00000542899.1_Silent_p.G161G|LATS2_ENST00000472754.1_5'UTR	p.G161G	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	888	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	161						Silent	SNP	ENST00000382592.4	37	c.483G>A	CCDS9294.1																																																																																				0.607	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			33	59	0	0	0	1	0	33	59				
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCAATTAAGGTAACATTTTCA	0.318																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e32+2		carbamoyl-phosphate synthase 1, mitochondrial							83.0	78.0	80.0					2																	211525381		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211525381T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3927+2T>A	2.37:g.211525381T>A						CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site		NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	32	4123	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37		CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345601	0.82022	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0343	0.80612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211233626	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.606000	0.82863	2.198000	0.70561	0.533000	0.62120	.		0.318	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	24	46	0	0	0	1	0	24	46				
ATP4A	495	broad.mit.edu	37	19	36050902	36050902	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:36050902C>T	ENST00000262623.3	-	7	889	c.861G>A	c.(859-861)ggG>ggA	p.G287G		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	287					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGTTTTCCACCCCCGACGCCA	0.607																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(859-861)ggG>ggA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						121.0	91.0	101.0					19																	36050902		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050902C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.861G>A	19.37:g.36050902C>T							p.G287G	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	889	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		287					O00738	Silent	SNP	ENST00000262623.3	37	c.861G>A	CCDS12467.1																																																																																				0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		49	72	0	0	0	1	0	49	72				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	80	0	0	0	1	0	4	80				
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(481-483)tAt>tGt		blood vessel epicardial substance							164.0	164.0	164.0					6																	105573323		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573323T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.482A>G	6.37:g.105573323T>C	ENSP00000313172:p.Tyr161Cys					BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	698	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	161					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.482A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217329	0.79352	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.49139	0.79;0.79;0.79	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72959	-0.4133	10	0.87932	D	0	-22.8392	16.0458	0.80720	0.0:0.0:0.0:1.0	.	161	Q8NE79	POPD1_HUMAN	C	161	ENSP00000313172:Y161C;ENSP00000337259:Y161C;ENSP00000397310:Y161C	ENSP00000313172:Y161C	Y	-	2	0	BVES	105680016	1.000000	0.71417	0.830000	0.32933	0.971000	0.66376	7.596000	0.82721	2.192000	0.70111	0.533000	0.62120	TAT		0.413	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		86	114	0	0	0	1	0	86	114				
OR2T2	401992	broad.mit.edu	37	1	248616306	248616306	+	Missense_Mutation	SNP	A	A	G	rs147503636	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:248616306A>G	ENST00000342927.3	+	1	230	c.208A>G	c.(208-210)Atg>Gtg	p.M70V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTCCATCATGGATACCAT	0.512													A|||	3	0.000599042	0.0023	0.0	5008	,	,		24611	0.0		0.0	False		,,,				2504	0.0					ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(208-210)Atg>Gtg		olfactory receptor, family 2, subfamily T, member 2		A	VAL/MET	5,4399	2.1+/-5.4	0,5,2197	125.0	138.0	133.0		208	2.2	1.0	1	dbSNP_134	133	0,8562		0,0,4281	no	missense	OR2T2	NM_001004136.1	21	0,5,6478	GG,GA,AA		0.0,0.1135,0.0386	possibly-damaging	70/325	248616306	5,12961	2202	4281	6483	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616306A>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.208A>G	1.37:g.248616306A>G	ENSP00000343062:p.Met70Val						p.M70V	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	230	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		70					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.208A>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	a	9.535	1.111945	0.20714	0.001135	0.0	ENSG00000196240	ENST00000342927	T	0.02890	4.12	3.42	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.05044	0.0135	N	0.20766	0.605	0.09310	N	1	D	0.56287	0.975	D	0.65684	0.937	T	0.21586	-1.0241	10	0.87932	D	0	.	6.6619	0.23018	0.8778:0.0:0.1222:0.0	.	70	Q6IF00	OR2T2_HUMAN	V	70	ENSP00000343062:M70V	ENSP00000343062:M70V	M	+	1	0	OR2T2	246682929	0.000000	0.05858	0.963000	0.40424	0.833000	0.47200	-0.537000	0.06128	1.445000	0.47624	0.240000	0.17902	ATG		0.512	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		17	248	0	0	0	1	0	17	248				
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(850-852)atT>atA		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							141.0	129.0	133.0					16																	26147050		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147050T>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.852T>A	16.37:g.26147050T>A						HS3ST4_ENST00000475436.1_3'UTR	p.I284I	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1244	+			284					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.852T>A	CCDS53995.1																																																																																				0.502	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		60	113	0	0	0	1	0	60	113				
TKTL1	8277	broad.mit.edu	37	X	153537745	153537745	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:153537745G>C	ENST00000369915.3	+	3	490	c.301G>C	c.(301-303)Gga>Cga	p.G101R	TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	101					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAAGGACTGGGAGTTGCATG	0.532																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(301-303)Gga>Cga		transketolase-like 1							331.0	280.0	297.0					X																	153537745		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153537745G>C	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.301G>C	X.37:g.153537745G>C	ENSP00000358931:p.Gly101Arg					TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R|TKTL1_ENST00000217905.7_Intron	p.G101R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			3	490	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		101					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.301G>C	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919870|2.919870	0.52653|0.52653	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000426203|ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Transketolase, N-terminal (1);	0.055419|0.055419	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.68375|0.68375	0.2994|0.2994	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79396|0.79396	-0.1821|-0.1821	6|10	.|0.62326	.|D	.|0.03	-25.6937|-25.6937	16.0378|16.0378	0.80642|0.80642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;101	.|B7Z7I0;P51854	.|.;TKTL1_HUMAN	A|R	83|101;45;101;45	.|ENSP00000358931:G101R;ENSP00000401111:G101R;ENSP00000358928:G45R	.|ENSP00000358928:G45R	G|G	+|+	2|1	0|0	TKTL1|TKTL1	153190939|153190939	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.034000|0.034000	0.12701|0.12701	7.442000|7.442000	0.80503|0.80503	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GGG|GGA		0.532	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		66	302	0	0	0	1	0	66	302				
HTR3A	3359	broad.mit.edu	37	11	113860191	113860191	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:113860191G>T	ENST00000504030.2	+	9	1588	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	HTR3A_ENST00000535865.1_Missense_Mutation_p.M125I|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413I|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419I|HTR3A_ENST00000299961.5_Missense_Mutation_p.M366I|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	381					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TTCCAGCCATGGGAAACCACT	0.592																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1141-1143)atG>atT		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						65.0	73.0	70.0					11																	113860191		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860191G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1143G>T	11.37:g.113860191G>T	ENSP00000424189:p.Met381Ile					HTR3A_ENST00000506841.2_Missense_Mutation_p.M413I|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125I|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419I|HTR3A_ENST00000299961.5_Missense_Mutation_p.M366I|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387I	p.M381I			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1588	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	381					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1143G>T		.	.	.	.	.	.	.	.	.	.	G	4.630	0.117067	0.08881	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.14	3.15	0.36227	.	0.404264	0.26122	N	0.026206	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.28470	0.015;0.213;0.007	B;B;B	0.23419	0.03;0.046;0.033	T	0.24440	-1.0160	10	0.15952	T	0.53	-26.431	6.8769	0.24151	0.2085:0.1379:0.6536:0.0	.	366;419;387	B4DSY6;G5E986;Q7KZM7	.;.;.	I	381;419;387;413;125;366	ENSP00000424189:M381I;ENSP00000347754:M419I;ENSP00000364648:M387I;ENSP00000424776:M413I;ENSP00000437776:M125I;ENSP00000299961:M366I	ENSP00000299961:M366I	M	+	3	0	HTR3A	113365401	0.973000	0.33851	0.748000	0.31131	0.109000	0.19521	0.526000	0.22971	1.314000	0.45095	-0.128000	0.14901	ATG		0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		32	103	1	0	9.78485e-24	1	1.02564e-23	32	103				
DYNC1LI2	1783	broad.mit.edu	37	16	66766257	66766257	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:66766257T>C	ENST00000258198.2	-	7	1120	c.914A>G	c.(913-915)aAg>aGg	p.K305R	DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.K228R|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.K266R	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	305					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AACGGCATCCTTTTCCACAAC	0.363																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(913-915)aAg>aGg		dynein, cytoplasmic 1, light intermediate chain 2							127.0	118.0	121.0					16																	66766257		2201	4300	6501	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66766257T>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.914A>G	16.37:g.66766257T>C	ENSP00000258198:p.Lys305Arg					DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.K266R|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.K228R|DYNC1LI2_ENST00000379482.2_Intron	p.K305R	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	7	1120	-		Ovarian(137;0.0563)	305					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.914A>G	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321399	0.60634	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.22539	1.95;1.95;1.95	5.41	5.41	0.78517	.	0.086441	0.85682	D	0.000000	T	0.34250	0.0891	L	0.27053	0.805	0.80722	D	1	D;B;P;B	0.76494	0.999;0.378;0.857;0.019	D;B;B;B	0.81914	0.995;0.364;0.422;0.163	T	0.11743	-1.0575	10	0.66056	D	0.02	-20.2327	15.6099	0.76707	0.0:0.0:0.0:1.0	.	266;305;228;305	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	R	305;228;266	ENSP00000258198:K305R;ENSP00000394289:K228R;ENSP00000408566:K266R	ENSP00000258198:K305R	K	-	2	0	DYNC1LI2	65323758	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.024000	0.70857	2.273000	0.75805	0.460000	0.39030	AAG		0.363	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		3	50	0	0	0	1	0	3	50				
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1873-1875)Gtc>Atc		mediator complex subunit 15							145.0	125.0	132.0					22																	20939211		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939211G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1873G>A	22.37:g.20939211G>A	ENSP00000263205:p.Val625Ile					MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I	p.V625I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	1942	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	625					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1873G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010261	0.75046	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.72	4.72	0.59763	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.45422	1.42	0.80722	D	1	D;P;P;P;P;P	0.56287	0.975;0.883;0.789;0.858;0.939;0.883	P;B;B;B;B;B	0.47251	0.542;0.241;0.2;0.155;0.406;0.241	T	0.63629	-0.6594	9	0.87932	D	0	.	15.183	0.72975	0.0:0.0:1.0:0.0	.	555;604;241;559;585;625	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	I	474;585;625;559;514;559;555	.	ENSP00000263205:V625I	V	+	1	0	MED15	19269211	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	6.273000	0.72581	2.180000	0.69256	0.561000	0.74099	GTC		0.632	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		67	132	0	0	0	1	0	67	132				
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000368445.5	-	1	350	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.L46V|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(136-138)Ctg>Gtg		SHC (Src homology 2 domain containing) transforming protein 1							23.0	24.0	24.0					1																	154942867		2187	4286	6473	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942867G>C	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.136C>G	1.37:g.154942867G>C	ENSP00000357430:p.Leu46Val					SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L46V	p.L46V	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	356	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		46					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.136C>G	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923174	0.52653	.	.	ENSG00000160691	ENST00000368445;ENST00000448116	T;T	0.53423	0.62;0.62	4.37	2.48	0.30137	.	0.000000	0.64402	D	0.000016	T	0.51075	0.1653	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72625	0.978;0.952	T	0.50056	-0.8872	10	0.31617	T	0.26	.	9.893	0.41300	0.1812:0.0:0.8188:0.0	.	46;46	P29353-6;P29353	.;SHC1_HUMAN	V	46	ENSP00000357430:L46V;ENSP00000401303:L46V	ENSP00000357430:L46V	L	-	1	2	SHC1	153209491	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	2.154000	0.42291	1.179000	0.42884	0.555000	0.69702	CTG		0.662	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		53	51	0	0	0	1	0	53	51				
SPSB2	84727	broad.mit.edu	37	12	6981492	6981492	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6981492G>A	ENST00000524270.1	-	2	760	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000523102.1_Missense_Mutation_p.R192C|SPSB2_ENST00000519357.1_Missense_Mutation_p.R192C|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	192	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTCAGTCCGCGGAATGCTGGC	0.637											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519357.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(574-576)Cgc>Tgc		splA/ryanodine receptor domain and SOCS box containing 2							93.0	94.0	93.0					12																	6981492		2203	4300	6503	SO:0001583	missense	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981492G>A	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.574C>T	12.37:g.6981492G>A	ENSP00000428338:p.Arg192Cys		OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_ENST00000524270.1_Missense_Mutation_p.R192C|SPSB2_ENST00000523102.1_Missense_Mutation_p.R192C	p.R192C			Q99619	SPSB2_HUMAN			2	760	-			192			B30.2/SPRY.		B7Z4W1|D3DUT0	Missense_Mutation	SNP	ENST00000524270.1	37	c.574C>T	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982840	0.53827	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.62105	0.05;0.05;0.05	3.69	3.69	0.42338	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.191479	0.30911	N	0.008640	T	0.80768	0.4686	M	0.88450	2.955	0.40318	D	0.978792	D;D	0.89917	1.0;0.992	D;P	0.76071	0.987;0.765	D	0.85483	0.1180	10	0.87932	D	0	.	13.3252	0.60454	0.0:0.0:1.0:0.0	.	192;192	B7Z4W1;Q99619	.;SPSB2_HUMAN	C	192	ENSP00000430872:R192C;ENSP00000428338:R192C;ENSP00000431037:R192C	ENSP00000431037:R192C	R	-	1	0	SPSB2	6851753	0.995000	0.38212	0.994000	0.49952	0.362000	0.29581	2.286000	0.43496	2.052000	0.61016	0.563000	0.77884	CGC		0.637	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		4	197	0	0	0	1	0	4	197				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		3	5						3	5	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1099-1101)aaC>aaG		calmodulin binding transcription activator 1							96.0	95.0	96.0					1																	7723708		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723708C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1101C>G	1.37:g.7723708C>G	ENSP00000306522:p.Asn367Lys					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1308	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	367					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1101C>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.669168	0.29604	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.47869	0.83;0.83	4.92	2.99	0.34606	.	0.244848	0.39985	N	0.001214	T	0.36303	0.0962	L	0.50333	1.59	0.39559	D	0.969107	P	0.42871	0.792	B	0.37731	0.257	T	0.28808	-1.0032	10	0.56958	D	0.05	-18.1634	5.9511	0.19246	0.0:0.633:0.1483:0.2187	.	367	Q9Y6Y1	CMTA1_HUMAN	K	367	ENSP00000306522:N367K;ENSP00000402561:N367K	ENSP00000306522:N367K	N	+	3	2	CAMTA1	7646295	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.168000	0.31859	1.018000	0.39521	0.543000	0.68304	AAC		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		46	41	0	0	0	1	0	46	41				
AC016995.3	0	broad.mit.edu	37	2	38710023	38710023	+	lincRNA	DEL	T	T	-	rs2005503|rs201362123|rs200685196	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:38710023delT	ENST00000417039.1	-	0	696																											aaaaaataaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710023delT																													2.37:g.38710023delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			3	6						3	6	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		7	345						7	345	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)attfs	p.I53fs	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(157-159)ttfs		protein phosphatase 1, regulatory subunit 10							108.0	105.0	106.0					6																	30576891		1511	2709	4220	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30576891delT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.157delA	6.37:g.30576891delT	ENSP00000365694:p.Ile53fs						p.I53fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			4	709	-			53			Interaction with TOX4 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.157delA	CCDS4681.1																																																																																				0.468	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		25	66						25	66	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		48	138						48	138	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245392	46245393	+	Frame_Shift_Ins	INS	-	-	ATTTTCCA			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:46245392_46245393insATTTTCCA	ENST00000334344.6	+	15	3658_3659	c.3486_3487insATTTTCCA	c.(3487-3489)attfs	p.-1165fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-775fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1016fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCCAGCAACCATTTTCCAAGG	0.48			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3484-3489)acttttfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245392_46245393insATTTTCCA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3487_3494dupATTTTCCA	12.37:g.46245393_46245400dupATTTTCCA	ENSP00000335044:p.Gln1165fs					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1014fs|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-773fs	p.-1163fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3658_3659	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.3486_3487insATTTTCCA	CCDS31783.1																																																																																				0.480	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		17	125						17	125	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95694273	95694274	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:95694273_95694274delAT	ENST00000436874.1	+	12	2269_2270	c.2164_2165delAT	c.(2164-2166)attfs	p.I722fs	VEZT_ENST00000261219.6_Frame_Shift_Del_p.I674fs|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	722					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAGCCCTCCATTAAGCAGAGG	0.515																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(2164-2166)tfs		vezatin, adherens junctions transmembrane protein																																				SO:0001589	frameshift_variant	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694273_95694274delAT	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2164_2165delAT	12.37:g.95694273_95694274delAT	ENSP00000410083:p.Ile722fs					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Frame_Shift_Del_p.I674fs	p.I722fs	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			12	2269_2270	+			722					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Frame_Shift_Del	DEL	ENST00000436874.1	37	c.2164_2165delAT	CCDS44954.1																																																																																				0.515	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		14	35						14	35	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22935859	22935859	+	Splice_Site	DEL	G	G	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:22935859delG	ENST00000313077.7	+	9	920		c.e9-1		CYFIP1_ENST00000560848.1_Splice_Site	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGCTTTTCAGGTCATGGGAT	0.398																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.e9-1		cytoplasmic FMR1 interacting protein 1							189.0	169.0	176.0					15																	22935859		2203	4300	6503	SO:0001630	splice_region_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22935859delG	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.796-1G>-	15.37:g.22935859delG						CYFIP1_ENST00000560848.1_Splice_Site		NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	920	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)							Splice_Site	DEL	ENST00000313077.7	37		CCDS10009.1																																																																																				0.398	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	Intron	14	70						14	70	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	125						7	125	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			4	8						4	8	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)attfs	p.I53fs	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(157-159)ttfs		protein phosphatase 1, regulatory subunit 10							108.0	105.0	106.0					6																	30576891		1511	2709	4220	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30576891delT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.157delA	6.37:g.30576891delT	ENSP00000365694:p.Ile53fs						p.I53fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			4	709	-			53			Interaction with TOX4 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.157delA	CCDS4681.1																																																																																				0.468	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		23	47						23	47	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		45	117						45	117	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43216290	43216290	+	RNA	DEL	A	A	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A																																						340441							g.chr8:43216290delA	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43216290delA										Q6S8J7	POTEA_HUMAN			0	1543	+								A6ND17|A6ND71|Q6S8J6	RNA	DEL	ENST00000522175.2	37																																																																																						0.284	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		2	4						2	4	---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)ggcfs	p.G221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.47																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(661-663)gtafs		solute carrier family 10, member 5																																				SO:0001589	frameshift_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606545_82606546insC		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.663dupG	8.37:g.82606550_82606550dupC	ENSP00000428612:p.Gly221fs						p.V221fs	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1863_1864	-			221					B2RN26	Frame_Shift_Ins	INS	ENST00000518568.1	37	c.662_663insG	CCDS34915.1																																																																																				0.470	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		7	183						7	183	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121344376	121344378	+	Splice_Site	DEL	CCA	CCA	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:121344376_121344378delCCA	ENST00000297848.3	+	41	4929		c.e41-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCTTTTCGCCAGGGCCTTCCG	0.488																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.e41-1		collagen, type XIV, alpha 1																																				SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121344376_121344378delCCA		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4660-1CCA>-	8.37:g.121344376_121344378delCCA						COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site		NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		41	4929	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	DEL	ENST00000297848.3	37		CCDS34938.1																																																																																				0.488	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	18	43						18	43	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			0							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	5						3	5	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245392	46245393	+	Frame_Shift_Ins	INS	-	-	ATTTTCCA			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:46245392_46245393insATTTTCCA	ENST00000334344.6	+	15	3658_3659	c.3486_3487insATTTTCCA	c.(3487-3489)attfs	p.-1165fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-775fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1016fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCCAGCAACCATTTTCCAAGG	0.48			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3484-3489)acttttfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245392_46245393insATTTTCCA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3487_3494dupATTTTCCA	12.37:g.46245393_46245400dupATTTTCCA	ENSP00000335044:p.Gln1165fs					ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1014fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-773fs	p.-1163fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3658_3659	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.3486_3487insATTTTCCA	CCDS31783.1																																																																																				0.480	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		19	104						19	104	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	5						3	5	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		3	3						3	3	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	3						3	3	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381598	45381600	+	Intron	DEL	GAG	GAG	-	rs375813744		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:45381598_45381600delGAG	ENST00000252483.5	+	5	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.R391del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGCTgagggtgaggaggaggagg	0.665																																						ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1159-1164)gtg>gt		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	4,172,3746		0,0,4,17,138,1802					,	-2.1	1.0			26	34,410,7168		2,1,29,23,363,3388	no	codingComplex,intron	PVRL2	NM_002856.2,NM_001042724.1	,	2,1,33,40,501,5190	A1A1,A1A2,A1R,A2A2,A2R,RR		5.8329,4.4875,5.3754	,	,		38,582,10914				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381598_45381600delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1042+3863GAG>-	19.37:g.45381607_45381609delGAG						PVRL2_ENST00000252483.5_Intron	p.VR387del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1512_1514	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	384					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1161_1163delGAG	CCDS42576.1																																																																																				0.665	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		2	4						2	4	---	---	---	---
