#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
PCDHA6	56142	broad.mit.edu	37	5	140209295	140209295	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140209295C>T	ENST00000529310.1	+	1	1733	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.677																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1618-1620)gCg>gTg									60.0	69.0	66.0					5																	140209295		2201	4297	6498	SO:0001583	missense	56142							g.chr5:140209295C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1619C>T	5.37:g.140209295C>T	ENSP00000433378:p.Ala540Val					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A540V	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1733	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1619C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832472	0.50845	.	.	ENSG00000081842	ENST00000529310	T	0.53857	0.6	3.83	3.83	0.44106	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002583	T	0.65984	0.2744	L	0.52011	1.625	0.80722	D	1	D;D	0.65815	0.989;0.995	D;D	0.67231	0.933;0.95	T	0.71307	-0.4632	10	0.87932	D	0	.	16.3293	0.83004	0.0:1.0:0.0:0.0	.	540;540	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	V	540	ENSP00000433378:A540V	ENSP00000433378:A540V	A	+	2	0	PCDHA6	140189479	0.001000	0.12720	1.000000	0.80357	0.259000	0.26198	0.838000	0.27572	2.135000	0.66039	0.306000	0.20318	GCG		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		34	192	0	0	0	1	0	34	192				
SLC4A3	6508	broad.mit.edu	37	2	220502432	220502432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220502432C>T	ENST00000358055.3	+	17	3177	c.2665C>T	c.(2665-2667)Cag>Tag	p.Q889*	SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.Q916*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	889	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGAGGAACCAGCCCAATAC	0.652																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2665-2667)Cag>Tag		solute carrier family 4 (anion exchanger), member 3							74.0	58.0	64.0					2																	220502432		2203	4300	6503	SO:0001587	stop_gained	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502432C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2665C>T	2.37:g.220502432C>T	ENSP00000350756:p.Gln889*					SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.Q889*	p.Q889*			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3177	+		Renal(207;0.0183)	889			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Nonsense_Mutation	SNP	ENST00000358055.3	37	c.2665C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	38	7.166736	0.98107	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8909	0.88871	0.0:1.0:0.0:0.0	.	.	.	.	X	889;889;916;916;149;889	.	ENSP00000273063:Q916X	Q	+	1	0	SLC4A3	220210676	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	5.122000	0.64697	2.528000	0.85240	0.551000	0.68910	CAG		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		13	92	0	0	0	1	0	13	92				
EFCAB14	9813	broad.mit.edu	37	1	47144306	47144306	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:47144306G>T	ENST00000371933.3	-	11	2291	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	439	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										AAATCCTGAAGATCTGTCAAA	0.393																																						ENST00000371933.3																			0											c.(1315-1317)Ctt>Att		EF-hand calcium binding domain 14							60.0	62.0	61.0					1																	47144306		2203	4300	6503	SO:0001583	missense	9813							g.chr1:47144306G>T	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1315C>A	1.37:g.47144306G>T	ENSP00000361001:p.Leu439Ile					EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA	p.L439I	NM_014774.2	NP_055589.1					11	2291	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1315C>A	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766231	0.90020	.	.	ENSG00000159658	ENST00000371933	T	0.08193	3.12	5.23	5.23	0.72850	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.27663	0.0680	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.83275	0.708;0.996	T	0.00188	-1.1940	10	0.62326	D	0.03	-12.6265	17.1563	0.86792	0.0:0.0:1.0:0.0	.	231;439	B7Z3D1;O75071	.;K0494_HUMAN	I	439	ENSP00000361001:L439I	ENSP00000361001:L439I	L	-	1	0	KIAA0494	46916893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.518000	0.60510	2.719000	0.93026	0.655000	0.94253	CTT		0.393	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		5	59	1	0	0.00116845	1	0.00122761	5	59				
FAT4	79633	broad.mit.edu	37	4	126400915	126400915	+	Missense_Mutation	SNP	G	G	A	rs369432764		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:126400915G>A	ENST00000394329.3	+	14	12506	c.12493G>A	c.(12493-12495)Gct>Act	p.A4165T	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4165	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGGAAGGCGCTTGTACTCG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		14698	0.0		0.0	False		,,,				2504	0.001					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12493-12495)Gct>Act		FAT atypical cadherin 4							74.0	67.0	70.0					4																	126400915		1568	3582	5150	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126400915G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12493G>A	4.37:g.126400915G>A	ENSP00000377862:p.Ala4165Thr					FAT4_ENST00000335110.5_Intron	p.A4165T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			14	12506	+			4165			EGF-like 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.12493G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419754	0.25552	.	.	ENSG00000196159	ENST00000394329	T	0.73789	-0.78	5.06	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.225927	0.21265	N	0.077416	T	0.60287	0.2257	L	0.35487	1.065	0.80722	D	1	B;B	0.21753	0.036;0.06	B;B	0.15052	0.005;0.012	T	0.52208	-0.8606	10	0.19590	T	0.45	.	9.9016	0.41351	0.1659:0.0:0.8341:0.0	.	4165;4165	Q6V0I7;Q6V0I7-3	FAT4_HUMAN;.	T	4165	ENSP00000377862:A4165T	ENSP00000377862:A4165T	A	+	1	0	FAT4	126620365	1.000000	0.71417	0.298000	0.25002	0.160000	0.22226	6.276000	0.72601	1.100000	0.41517	0.585000	0.79938	GCT		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	21	0	0	0	1	0	5	21				
WSB2	55884	broad.mit.edu	37	12	118480755	118480755	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:118480755G>A	ENST00000315436.3	-	4	591	c.450C>T	c.(448-450)tcC>tcT	p.S150S	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.S167S|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Silent_p.S152S|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	150					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(448-450)tcC>tcT		WD repeat and SOCS box containing 2							74.0	75.0	74.0					12																	118480755		2203	4300	6503	SO:0001819	synonymous_variant	55884				intracellular signal transduction			g.chr12:118480755G>A	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.450C>T	12.37:g.118480755G>A						WSB2_ENST00000441406.2_Silent_p.S167S|WSB2_ENST00000535496.1_Silent_p.S152S|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron	p.S150S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			4	591	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		150					B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	c.450C>T	CCDS9186.1																																																																																				0.592	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		4	132	0	0	0	1	0	4	132				
CHST6	4166	broad.mit.edu	37	16	75512584	75512584	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:75512584G>A	ENST00000332272.4	-	3	1322	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.N381N	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	381					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGTGAAGCCGTTCAGGCCTC	0.637																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1141-1143)aaC>aaT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							66.0	64.0	65.0					16																	75512584		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512584G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1143C>T	16.37:g.75512584G>A						CHST6_ENST00000390664.2_Silent_p.N381N|RP11-77K12.4_ENST00000530512.3_RNA	p.N381N	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1322	-			381					D3DUK3	Silent	SNP	ENST00000332272.4	37	c.1143C>T	CCDS10918.1																																																																																				0.637	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		4	89	0	0	0	1	0	4	89				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	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)																																																729171							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			7	93	0	0	0	1	0	7	93				
NOTCH1	4851	broad.mit.edu	37	9	139409770	139409770	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:139409770G>C	ENST00000277541.6	-	12	2061	c.1986C>G	c.(1984-1986)taC>taG	p.Y662*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	662	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCACACTCGTAGCCATCGA	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1984-1986)taC>taG		notch 1							72.0	78.0	76.0					9																	139409770		2157	4258	6415	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409770G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1986C>G	9.37:g.139409770G>C	ENSP00000277541:p.Tyr662*	HNSCC(8;0.001)					p.Y662*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	12	2061	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	662			EGF-like 17; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.1986C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257615	0.95368	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.79	0.21	0.15231	.	0.070583	0.64402	U	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7459	0.46181	0.4027:0.0:0.5973:0.0	.	.	.	.	X	662	.	ENSP00000277541:Y662X	Y	-	3	2	NOTCH1	138529591	0.714000	0.27936	0.997000	0.53966	0.101000	0.19017	-0.101000	0.10973	0.104000	0.17725	0.467000	0.42956	TAC		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		22	65	0	0	0	1	0	22	65				
ELOVL3	83401	broad.mit.edu	37	10	103987462	103987462	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr10:103987462T>A	ENST00000370005.3	+	2	402	c.181T>A	c.(181-183)Ttc>Atc	p.F61I		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	61					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACGCAAGGGCTTCAACCTGCA	0.552																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(181-183)Ttc>Atc		ELOVL fatty acid elongase 3							295.0	243.0	260.0					10																	103987462		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103987462T>A	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.181T>A	10.37:g.103987462T>A	ENSP00000359022:p.Phe61Ile						p.F61I	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	2	402	+		Colorectal(252;0.207)	61					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.181T>A	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974084	0.53720	.	.	ENSG00000119915	ENST00000370005	T	0.23147	1.92	4.51	4.51	0.55191	.	0.106321	0.42548	D	0.000684	T	0.43787	0.1263	M	0.74546	2.27	0.41565	D	0.988655	P	0.52577	0.954	P	0.55222	0.771	T	0.49399	-0.8944	10	0.72032	D	0.01	-18.5837	12.9462	0.58373	0.0:0.0:0.0:1.0	.	61	Q9HB03	ELOV3_HUMAN	I	61	ENSP00000359022:F61I	ENSP00000359022:F61I	F	+	1	0	ELOVL3	103977452	0.998000	0.40836	0.887000	0.34795	0.134000	0.20937	2.316000	0.43761	1.776000	0.52262	0.460000	0.39030	TTC		0.552	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		23	114	0	0	0	1	0	23	114				
ZNF536	9745	broad.mit.edu	37	19	30935349	30935349	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:30935349C>T	ENST00000355537.3	+	2	1027	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCCACATCCGCATCTTGCA	0.642																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(880-882)Cgc>Tgc		zinc finger protein 536							51.0	57.0	55.0					19																	30935349		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935349C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.880C>T	19.37:g.30935349C>T	ENSP00000347730:p.Arg294Cys						p.R294C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1027	+	Esophageal squamous(110;0.0834)		294					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.880C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666904	0.29604	.	.	ENSG00000198597	ENST00000355537	T	0.34072	1.38	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.60777	-0.7196	10	0.87932	D	0	-38.6797	15.5111	0.75782	0.1467:0.8533:0.0:0.0	.	294;294	A7E228;O15090	.;ZN536_HUMAN	C	294	ENSP00000347730:R294C	ENSP00000347730:R294C	R	+	1	0	ZNF536	35627189	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.057000	0.57455	2.702000	0.92279	0.491000	0.48974	CGC		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	119	0	0	0	1	0	10	119				
ZFP2	80108	broad.mit.edu	37	5	178359524	178359524	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:178359524C>T	ENST00000361362.2	+	5	1740	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	ZFP2_ENST00000520301.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000503510.2_Missense_Mutation_p.H404Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	404					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAAAGAATTCATACTGGTGA	0.418																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(1210-1212)Cat>Tat		ZFP2 zinc finger protein							60.0	60.0	60.0					5																	178359524		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359524C>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1210C>T	5.37:g.178359524C>T	ENSP00000354453:p.His404Tyr					ZFP2_ENST00000520301.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000503510.2_Missense_Mutation_p.H404Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H404Y	p.H404Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1740	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	404					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.1210C>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.941470	0.73557	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33161	N	0.005208	D	0.85256	0.5655	M	0.92604	3.325	0.46044	D	0.998836	D	0.89917	1.0	D	0.75020	0.985	D	0.88891	0.3346	10	0.87932	D	0	-9.5199	15.4873	0.75575	0.0:1.0:0.0:0.0	.	404	Q6ZN57	ZFP2_HUMAN	Y	404	ENSP00000354453:H404Y;ENSP00000430980:H404Y;ENSP00000430531:H404Y;ENSP00000438114:H404Y	ENSP00000354453:H404Y	H	+	1	0	ZFP2	178292130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.495000	0.84180	0.655000	0.94253	CAT		0.418	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		11	41	0	0	0	1	0	11	41				
SON	6651	broad.mit.edu	37	21	34923429	34923429	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:34923429A>T	ENST00000356577.4	+	3	2367	c.1892A>T	c.(1891-1893)gAg>gTg	p.E631V	SON_ENST00000381679.4_Missense_Mutation_p.E631V|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E631V|SON_ENST00000290239.6_Missense_Mutation_p.E631V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	631					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGGTGCTGGAGTTGCCAGGG	0.652																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1891-1893)gAg>gTg		SON DNA binding protein							30.0	35.0	33.0					21																	34923429		2203	4299	6502	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923429A>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1892A>T	21.37:g.34923429A>T	ENSP00000348984:p.Glu631Val					SON_ENST00000290239.6_Missense_Mutation_p.E631V|SON_ENST00000381679.4_Missense_Mutation_p.E631V|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E631V	p.E631V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2367	+			631					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1892A>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000853	0.54254	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15603	2.57;2.57;2.57;2.41	5.83	5.83	0.93111	.	0.101782	0.44285	D	0.000472	T	0.28632	0.0709	L	0.27053	0.805	0.36554	D	0.872054	D;D;P	0.89917	1.0;1.0;0.607	D;D;B	0.87578	0.996;0.998;0.293	T	0.19976	-1.0289	10	0.41790	T	0.15	.	13.5719	0.61851	1.0:0.0:0.0:0.0	.	631;631;631	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	631	ENSP00000348984:E631V;ENSP00000290239:E631V;ENSP00000300278:E631V;ENSP00000371095:E631V	ENSP00000290239:E631V	E	+	2	0	SON	33845299	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.472000	0.35376	2.231000	0.72958	0.454000	0.30748	GAG		0.652	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		10	61	0	0	0	1	0	10	61				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	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			3	32	1	0	0.004672	1	0.0048472	3	32				
CTNNA2	1496	broad.mit.edu	37	2	80646701	80646701	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:80646701G>A	ENST00000402739.4	+	8	1270	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R456H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R101H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R422H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	422					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGTTTTCCGTGAGCATGCC	0.443																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1264-1266)cGt>cAt		catenin (cadherin-associated protein), alpha 2							102.0	101.0	101.0					2																	80646701		2035	4234	6269	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646701G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1265G>A	2.37:g.80646701G>A	ENSP00000384638:p.Arg422His					CTNNA2_ENST00000540488.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R422H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R456H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R101H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R422H	p.R422H			P26232	CTNA2_HUMAN			13	1989	+			422					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1265G>A		.	.	.	.	.	.	.	.	.	.	G	19.25	3.791103	0.70452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.42632	1.34	0.80722	D	1	B;P;B;B	0.43973	0.025;0.823;0.043;0.043	B;B;B;B	0.27796	0.004;0.083;0.006;0.006	T	0.07309	-1.0779	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	54;422;422;422	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	422;422;456;422;422;422;101;87	ENSP00000418191:R422H;ENSP00000419295:R422H;ENSP00000355398:R456H;ENSP00000384638:R422H;ENSP00000444675:R422H;ENSP00000441705:R422H;ENSP00000341500:R101H;ENSP00000386587:R87H	.	R	+	2	0	CTNNA2	80500212	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGT		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		10	72	0	0	0	1	0	10	72				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	72	0	0	0	1	0	4	72				
FRAS1	80144	broad.mit.edu	37	4	79403045	79403045	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:79403045C>T	ENST00000264895.6	+	57	8971	c.8531C>T	c.(8530-8532)gCt>gTt	p.A2844V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2840	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGACCCAGCTTCTGCCACA	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8530-8532)gCt>gTt		Fraser syndrome 1							140.0	145.0	144.0					4																	79403045		1957	4145	6102	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403045C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8531C>T	4.37:g.79403045C>T	ENSP00000264895:p.Ala2844Val						p.A2844V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			57	8971	+			2839			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8531C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724334	0.30593	.	.	ENSG00000138759	ENST00000264895	T	0.29917	1.55	5.69	5.69	0.88448	.	0.268620	0.36338	N	0.002651	T	0.22282	0.0537	N	0.04724	-0.175	0.80722	D	1	B	0.33318	0.408	B	0.38378	0.272	T	0.11203	-1.0597	10	0.30854	T	0.27	.	19.8771	0.96880	0.0:1.0:0.0:0.0	.	2844	E9PHH6	.	V	2844	ENSP00000264895:A2844V	ENSP00000264895:A2844V	A	+	2	0	FRAS1	79622069	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	4.666000	0.61554	2.687000	0.91594	0.650000	0.86243	GCT		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	147	0	0	0	1	0	26	147				
PRAMEF2	65122	broad.mit.edu	37	1	12919840	12919840	+	Missense_Mutation	SNP	T	T	C	rs371798387		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12919840T>C	ENST00000240189.2	+	3	667	c.580T>C	c.(580-582)Tat>Cat	p.Y194H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	194					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Y194H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAATTAAATATCTCAGAAA	0.383																																						ENST00000240189.2																			1	Substitution - Missense(1)	p.Y194H(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(580-582)Tat>Cat		PRAME family member 2							152.0	167.0	162.0					1																	12919840		2202	4293	6495	SO:0001583	missense	65122							g.chr1:12919840T>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.580T>C	1.37:g.12919840T>C	ENSP00000240189:p.Tyr194His						p.Y194H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	667	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	194						Missense_Mutation	SNP	ENST00000240189.2	37	c.580T>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	T	4.284	0.051818	0.08291	.	.	ENSG00000120952	ENST00000240189	T	0.14516	2.5	0.842	-1.68	0.08212	.	1.116300	0.06718	N	0.774313	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.34782	T	0.22	.	2.8687	0.05610	0.5828:0.0:0.0:0.4172	.	194	O60811	PRAM2_HUMAN	H	194	ENSP00000240189:Y194H	ENSP00000240189:Y194H	Y	+	1	0	PRAMEF2	12842427	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.429000	0.06982	-0.375000	0.07955	0.163000	0.16589	TAT		0.383	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		5	290	0	0	0	1	0	5	290				
TGFBR3	7049	broad.mit.edu	37	1	92177929	92177929	+	Silent	SNP	C	C	T	rs148167041		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:92177929C>T	ENST00000525962.1	-	12	2098	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	TGFBR3_ENST00000370399.2_Silent_p.P678P|TGFBR3_ENST00000212355.4_Silent_p.P679P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	679	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTCAGCTTGCGGGATAGGAA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.001		0.0	False		,,,				2504	0.0					ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2035-2037)ccG>ccA		transforming growth factor, beta receptor III							147.0	142.0	143.0					1																	92177929		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177929C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2037G>A	1.37:g.92177929C>T						TGFBR3_ENST00000370399.2_Silent_p.P678P|TGFBR3_ENST00000525962.1_Silent_p.P679P	p.P679P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2502	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	679			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.2037G>A	CCDS30770.1																																																																																				0.433	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		4	131	0	0	0	1	0	4	131				
ZNF236	7776	broad.mit.edu	37	18	74639389	74639389	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr18:74639389T>C	ENST00000253159.8	+	24	4522	c.4324T>C	c.(4324-4326)Tcc>Ccc	p.S1442P	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1444P	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1442					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCAGGCCTGTCCTTACAGCC	0.602																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4324-4326)Tcc>Ccc		zinc finger protein 236							63.0	65.0	64.0					18																	74639389		2082	4216	6298	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74639389T>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4324T>C	18.37:g.74639389T>C	ENSP00000253159:p.Ser1442Pro					ZNF236_ENST00000320610.9_Missense_Mutation_p.S1444P	p.S1442P	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	24	4522	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1442					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4324T>C	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509344	0.85282	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11821	2.74;2.94	5.81	5.81	0.92471	.	0.062472	0.64402	D	0.000003	T	0.23611	0.0571	L	0.29908	0.895	0.49389	D	0.999789	D	0.71674	0.998	P	0.60682	0.878	T	0.00934	-1.1509	10	0.41790	T	0.15	.	16.2128	0.82178	0.0:0.0:0.0:1.0	.	1442	Q9UL36	ZN236_HUMAN	P	1442	ENSP00000253159:S1442P;ENSP00000444524:S1442P	ENSP00000253159:S1442P	S	+	1	0	ZNF236	72768377	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	2.316000	0.43761	2.234000	0.73211	0.524000	0.50904	TCC		0.602	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			11	42	0	0	0	1	0	11	42				
CFAP43	80217	broad.mit.edu	37	10	105963513	105963513	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr10:105963513C>T	ENST00000278064.2	-	8	1130	c.805G>A	c.(805-807)Gag>Aag	p.E269K	WDR96_ENST00000428666.1_Missense_Mutation_p.E339K|WDR96_ENST00000369719.1_Missense_Mutation_p.E269K|WDR96_ENST00000369720.1_Missense_Mutation_p.E269K|WDR96_ENST00000357060.3_Missense_Mutation_p.E338K																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAAAATCCTCGATCATGTAA	0.328																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1012-1014)Gag>Aag		WD repeat domain 96							91.0	96.0	94.0					10																	105963513		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105963513C>T																												ENST00000278064.2:c.805G>A	10.37:g.105963513C>T	ENSP00000278064:p.Glu269Lys					WDR96_ENST00000428666.1_Missense_Mutation_p.E339K|WDR96_ENST00000278064.2_Missense_Mutation_p.E269K|WDR96_ENST00000369719.1_Missense_Mutation_p.E269K|WDR96_ENST00000369720.1_Missense_Mutation_p.E269K	p.E338K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			8	1127	-			338						Missense_Mutation	SNP	ENST00000278064.2	37	c.1012G>A		.	.	.	.	.	.	.	.	.	.	C	0.350	-0.945454	0.02304	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.68903	2.58;2.57;2.55;1.61;-0.36	6.06	-1.14	0.09741	WD40 repeat-like-containing domain (1);	0.784683	0.11155	N	0.593739	T	0.39572	0.1083	N	0.12746	0.255	0.09310	N	1	B;B;B	0.15473	0.013;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.23476	-1.0187	10	0.09590	T	0.72	.	6.9903	0.24751	0.0:0.4224:0.2364:0.3412	.	338;339;338	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	K	338;339;269;269;269	ENSP00000349568:E338K;ENSP00000400289:E339K;ENSP00000278064:E269K;ENSP00000358734:E269K;ENSP00000358733:E269K	ENSP00000278064:E269K	E	-	1	0	WDR96	105953503	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.258000	0.08733	-0.294000	0.08973	-2.053000	0.00404	GAG		0.328	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			3	45	0	0	0	1	0	3	45				
TIGIT	201633	broad.mit.edu	37	3	114018536	114018536	+	Missense_Mutation	SNP	G	G	A	rs147577671	byFrequency	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:114018536G>A	ENST00000486257.1	+	4	741	c.484G>A	c.(484-486)Gcg>Acg	p.A162T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A162T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A229T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	162					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CGTGGTGGTCGCGTTGACTAG	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18334	0.0		0.001	False		,,,				2504	0.0					ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(685-687)Gcg>Acg		T cell immunoreceptor with Ig and ITIM domains		G	THR/ALA	8,4398	14.3+/-33.2	0,8,2195	68.0	56.0	60.0		484	-6.1	0.0	3	dbSNP_134	60	4,8596	2.2+/-6.3	0,4,4296	yes	missense	TIGIT	NM_173799.3	58	0,12,6491	AA,AG,GG		0.0465,0.1816,0.0923	benign	162/245	114018536	12,12994	2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114018536G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.484G>A	3.37:g.114018536G>A	ENSP00000419085:p.Ala162Thr					TIGIT_ENST00000486257.1_Missense_Mutation_p.A162T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A162T	p.A229T			Q495A1	TIGIT_HUMAN			4	3300	+			162					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.685G>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	8.586	0.883471	0.17467	0.001816	4.65E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56941	0.43;0.44;0.49;0.49;0.43	4.44	-6.12	0.02124	.	2.390680	0.01450	N	0.015477	T	0.26557	0.0649	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19484	-1.0304	10	0.18710	T	0.47	4.9458	9.5698	0.39420	0.7059:0.1217:0.1724:0.0	.	162	Q495A1	TIGIT_HUMAN	T	141;229;162;162;141	ENSP00000418917:A141T;ENSP00000420552:A229T;ENSP00000419085:A162T;ENSP00000373167:A162T;ENSP00000419706:A141T	ENSP00000373167:A162T	A	+	1	0	TIGIT	115501226	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.363000	0.02592	-1.408000	0.02040	-0.136000	0.14681	GCG		0.607	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		22	29	0	0	0	1	0	22	29				
LDHAL6B	92483	broad.mit.edu	37	15	59499196	59499196	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr15:59499196G>A	ENST00000307144.4	+	1	155	c.57G>A	c.(55-57)gcG>gcA	p.A19A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	19					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CGGTGGGAGCGAATTTCCTAT	0.592																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(55-57)gcG>gcA		lactate dehydrogenase A-like 6B	NADH(DB00157)						49.0	45.0	46.0					15																	59499196		2191	4290	6481	SO:0001819	synonymous_variant	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499196G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.57G>A	15.37:g.59499196G>A						MYO1E_ENST00000288235.4_Intron	p.A19A	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	155	+			19					Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	c.57G>A	CCDS10171.1																																																																																				0.592	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		7	49	0	0	0	1	0	7	49				
CSF2RB	1439	broad.mit.edu	37	22	37328806	37328806	+	Splice_Site	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr22:37328806G>A	ENST00000403662.3	+	9	1234		c.e9-1		CSF2RB_ENST00000262825.5_Splice_Site|CSF2RB_ENST00000536485.1_Splice_Site|CSF2RB_ENST00000406230.1_Splice_Site			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)						cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTCCCTCCAGTCCAGATGGC	0.552																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.e9-1		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						96.0	69.0	78.0					22																	37328806		2203	4300	6503	SO:0001630	splice_region_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37328806G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1013-1G>A	22.37:g.37328806G>A						CSF2RB_ENST00000406230.1_Splice_Site|CSF2RB_ENST00000536485.1_Splice_Site|CSF2RB_ENST00000403662.3_Splice_Site		NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			9	1247	+								Q5JZI1|Q6ICE0	Splice_Site	SNP	ENST00000403662.3	37		CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855038	0.51376	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3421	0.60551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSF2RB	35658752	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.960000	0.56752	2.598000	0.87819	0.511000	0.50034	.		0.552	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	Intron	6	34	0	0	0	1	0	6	34				
CPE	1363	broad.mit.edu	37	4	166405653	166405653	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:166405653G>A	ENST00000402744.4	+	5	1150	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTTCAACCCGGCCATGTCTG	0.517																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(868-870)ccG>ccA		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						283.0	275.0	278.0					4																	166405653		2203	4300	6503	SO:0001819	synonymous_variant	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405653G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.870G>A	4.37:g.166405653G>A							p.P290P	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1150	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	290					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	c.870G>A	CCDS3810.1																																																																																				0.517	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		5	428	0	0	0	1	0	5	428				
MDGA2	161357	broad.mit.edu	37	14	47530617	47530617	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr14:47530617G>A	ENST00000399232.2	-	7	1517	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	MDGA2_ENST00000439988.3_Missense_Mutation_p.R454W|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156W|MDGA2_ENST00000426342.1_Missense_Mutation_p.R156W	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATGACCATCCGCTCAGAACTT	0.418																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(466-468)Cgg>Tgg		MAM domain containing glycosylphosphatidylinositol anchor 2							155.0	140.0	145.0					14																	47530617		1895	4112	6007	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530617G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1153C>T	14.37:g.47530617G>A	ENSP00000382178:p.Arg385Trp					MDGA2_ENST00000357362.3_Missense_Mutation_p.R156W|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385W|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454W	p.R156W	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1212	-			385			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.466C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.436439|3.436439	0.62955|0.62955	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63	5.64|5.64	1.35|1.35	0.21983|0.21983	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47455	.|U	.|0.000235	T|T	0.73783|0.73783	0.3631|0.3631	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.80768|0.80768	-0.1235|-0.1235	5|10	.|0.87932	.|D	.|0	.|.	14.7054|14.7054	0.69186|0.69186	0.0:0.0:0.2732:0.7268|0.0:0.0:0.2732:0.7268	.|.	.|385	.|Q7Z553	.|MDGA2_HUMAN	V|W	159|385;156;454;156	.|ENSP00000400011:R385W;ENSP00000405456:R156W;ENSP00000382178:R454W;ENSP00000349925:R156W	.|ENSP00000349925:R156W	A|R	-|-	2|1	0|2	MDGA2|MDGA2	46600367|46600367	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	1.688000|1.688000	0.37690|0.37690	0.261000|0.261000	0.21753|0.21753	-0.274000|-0.274000	0.10170|0.10170	GCG|CGG		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		17	127	0	0	0	1	0	17	127				
ARID1B	57492	broad.mit.edu	37	6	157488283	157488283	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr6:157488283T>C	ENST00000350026.5	+	9	2951	c.2950T>C	c.(2950-2952)Tac>Cac	p.Y984H	ARID1B_ENST00000367148.1_Missense_Mutation_p.Y984H|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000346085.5_Missense_Mutation_p.Y997H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y926H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	984					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGCCGCCCTACAGCATGGC	0.612																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2989-2991)Tac>Cac		AT rich interactive domain 1B (SWI1-like)							87.0	96.0	93.0					6																	157488283		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488283T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2950T>C	6.37:g.157488283T>C	ENSP00000055163:p.Tyr984His					ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y984H|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y984H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y926H	p.Y997H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	10	2990	+		Breast(66;0.000162)|Ovarian(120;0.0265)	984					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2989T>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949463	0.73787	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25749	2.09;2.09;4.56;4.56;4.26;1.99;1.78	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.49126	1.545	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.87578	0.998;0.986;0.994;0.997	T	0.05937	-1.0855	10	0.40728	T	0.16	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	234;984;997;926	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	H	997;984;984;926;401;453;406;51	ENSP00000344546:Y997H;ENSP00000055163:Y984H;ENSP00000356116:Y984H;ENSP00000275248:Y926H;ENSP00000412835:Y453H;ENSP00000313006:Y406H;ENSP00000383596:Y51H	ENSP00000275248:Y926H	Y	+	1	0	ARID1B	157529975	1.000000	0.71417	0.929000	0.37066	0.971000	0.66376	6.935000	0.75886	2.194000	0.70268	0.533000	0.62120	TAC		0.612	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		20	120	0	0	0	1	0	20	120				
KRT84	3890	broad.mit.edu	37	12	52774199	52774199	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:52774199G>C	ENST00000257951.3	-	7	1438	c.1372C>G	c.(1372-1374)Ctg>Gtg	p.L458V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	458	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGATGTCCAGGCCCAGCTTG	0.607											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1372-1374)Ctg>Gtg		keratin 84							62.0	58.0	59.0					12																	52774199		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774199G>C	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1372C>G	12.37:g.52774199G>C	ENSP00000257951:p.Leu458Val		OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987		p.L458V	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1438	-	all_hematologic(5;0.12)		458			Coil 2.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1372C>G	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103728	0.76983	.	.	ENSG00000161849	ENST00000257951	D	0.95272	-3.66	5.03	4.12	0.48240	Filament (1);	0.000000	0.36482	N	0.002562	D	0.98027	0.9350	H	0.97732	4.065	0.39087	D	0.961029	D	0.76494	0.999	D	0.91635	0.999	D	0.98545	1.0634	10	0.72032	D	0.01	.	11.4773	0.50306	0.1409:0.0:0.8591:0.0	.	458	Q9NSB2	KRT84_HUMAN	V	458	ENSP00000257951:L458V	ENSP00000257951:L458V	L	-	1	2	KRT84	51060466	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.309000	0.65774	2.620000	0.88729	0.655000	0.94253	CTG		0.607	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		18	61	0	0	0	1	0	18	61				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	53	0	0	0	1	0	7	53				
LIN7A	8825	broad.mit.edu	37	12	81205334	81205334	+	Silent	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:81205334T>C	ENST00000552864.1	-	5	814	c.612A>G	c.(610-612)cgA>cgG	p.R204R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCCTGGCTGTTCGTAGCTTTT	0.502																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(610-612)cgA>cgG		lin-7 homolog A (C. elegans)							98.0	85.0	89.0					12																	81205334		2203	4300	6503	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205334T>C	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.612A>G	12.37:g.81205334T>C							p.R204R	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			5	814	-			204					A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.612A>G	CCDS9021.1																																																																																				0.502	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			6	20	0	0	0	1	0	6	20				
ATP2B3	492	broad.mit.edu	37	X	152807232	152807232	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152807232C>T	ENST00000349466.2	+	4	838	c.512C>T	c.(511-513)aCg>aTg	p.T171M	ATP2B3_ENST00000393842.1_Missense_Mutation_p.T171M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T171M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T171M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.T171M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T171M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	171					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGTCACGGCCTTCAAT	0.617																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(511-513)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 3							127.0	111.0	117.0					X																	152807232		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807232C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.512C>T	X.37:g.152807232C>T	ENSP00000343886:p.Thr171Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.T171M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T171M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T171M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T171M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T171M	p.T171M			Q16720	AT2B3_HUMAN			4	838	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		171					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.512C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238768	0.79800	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.79	5.79	0.91817	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96046	0.8712	M	0.93594	3.435	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	D	0.96943	0.9689	10	0.87932	D	0	-9.597	17.6305	0.88106	0.0:1.0:0.0:0.0	.	171;171	Q16720;Q16720-2	AT2B3_HUMAN;.	M	171	ENSP00000359205:T171M;ENSP00000343886:T171M;ENSP00000377425:T171M;ENSP00000352062:T171M;ENSP00000263519:T171M;ENSP00000359200:T171M	ENSP00000263519:T171M	T	+	2	0	ATP2B3	152460426	1.000000	0.71417	0.973000	0.42090	0.482000	0.33219	7.770000	0.85390	2.435000	0.82474	0.600000	0.82982	ACG		0.617	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		34	64	0	0	0	1	0	34	64				
PRAMEF2	65122	broad.mit.edu	37	1	12919833	12919833	+	Silent	SNP	A	A	G	rs150145103	byFrequency	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12919833A>G	ENST00000240189.2	+	3	660	c.573A>G	c.(571-573)ccA>ccG	p.P191P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	191					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P191P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTAACGCCAATTAAATATC	0.398																																						ENST00000240189.2																			1	Substitution - coding silent(1)	p.P191P(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(571-573)ccA>ccG		PRAME family member 2							162.0	178.0	172.0					1																	12919833		2202	4294	6496	SO:0001819	synonymous_variant	65122							g.chr1:12919833A>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.573A>G	1.37:g.12919833A>G							p.P191P	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	660	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	191						Silent	SNP	ENST00000240189.2	37	c.573A>G	CCDS149.1																																																																																				0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		6	311	0	0	0	1	0	6	311				
C16orf78	123970	broad.mit.edu	37	16	49430502	49430502	+	Missense_Mutation	SNP	G	G	A	rs374603360		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:49430502G>A	ENST00000299191.3	+	4	680	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	188						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCTTACGAACGCAAGCTAAAG	0.502																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(562-564)cGc>cAc		chromosome 16 open reading frame 78		G	HIS/ARG	0,4398		0,0,2199	74.0	69.0	71.0		563	5.3	1.0	16		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf78	NM_144602.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	188/266	49430502	1,12997	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49430502G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.563G>A	16.37:g.49430502G>A	ENSP00000299191:p.Arg188His						p.R188H	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			4	680	+			188						Missense_Mutation	SNP	ENST00000299191.3	37	c.563G>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692779	0.68271	0.0	1.16E-4	ENSG00000166152	ENST00000299191	T	0.60672	0.17	5.29	5.29	0.74685	.	0.000000	0.46442	D	0.000290	T	0.73321	0.3572	M	0.67953	2.075	0.41501	D	0.988289	D	0.89917	1.0	D	0.91635	0.999	T	0.73418	-0.3989	9	.	.	.	-46.6355	14.7897	0.69830	0.0:0.0:1.0:0.0	.	188	Q8WTQ4	CP078_HUMAN	H	188	ENSP00000299191:R188H	.	R	+	2	0	C16orf78	47988003	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.079000	0.41577	2.618000	0.88619	0.655000	0.94253	CGC		0.502	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		18	46	0	0	0	1	0	18	46				
LRRC37A11P	342666	broad.mit.edu	37	17	37199527	37199527	+	RNA	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:37199527C>T	ENST00000425901.2	+	0	2680					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AGTTTTTACACAAGTTGTAAG	0.373																																						ENST00000425901.2																			0																																																			342666							g.chr17:37199527C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37199527C>T								NR_033753.2						0	2680	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.373	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		5	106	0	0	0	1	0	5	106				
TMC8	147138	broad.mit.edu	37	17	76137079	76137079	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:76137079G>A	ENST00000318430.5	+	16	2441	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	TMC8_ENST00000589691.1_Silent_p.P466P|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	689					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACCAGGCCCCGCGGCCGGGCC	0.751																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(2065-2067)ccG>ccA		transmembrane channel-like 8							7.0	9.0	8.0					17																	76137079		2119	4061	6180	SO:0001819	synonymous_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76137079G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.2067G>A	17.37:g.76137079G>A						TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Silent_p.P466P	p.P689P	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		16	2441	+			689					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.2067G>A	CCDS32749.1																																																																																				0.751	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			3	15	0	0	0	1	0	3	15				
MYO3B	140469	broad.mit.edu	37	2	171248916	171248916	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:171248916G>A	ENST00000408978.4	+	16	1845	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V568M|MYO3B_ENST00000334231.6_Missense_Mutation_p.V577M	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	568	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AACTGGAAGGGTGATGCACGA	0.408																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1729-1731)Gtg>Atg		myosin IIIB							113.0	103.0	107.0					2																	171248916		1938	4143	6081	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248916G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1702G>A	2.37:g.171248916G>A	ENSP00000386213:p.Val568Met					MYO3B_ENST00000409044.3_Missense_Mutation_p.V568M|MYO3B_ENST00000408978.4_Missense_Mutation_p.V568M|MYO3B_ENST00000602629.1_3'UTR	p.V577M			Q8WXR4	MYO3B_HUMAN			16	1729	+			568			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1729G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592905	0.46214	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.78924	-1.21;-1.21;-1.2;-1.22	5.66	3.86	0.44501	Myosin head, motor domain (2);	0.053967	0.64402	N	0.000001	T	0.68265	0.2982	L	0.35414	1.06	0.45621	D	0.998556	B;B;B	0.28552	0.026;0.215;0.03	B;B;B	0.31812	0.015;0.136;0.043	T	0.62955	-0.6744	10	0.39692	T	0.17	.	11.5203	0.50546	0.0677:0.1257:0.8066:0.0	.	568;568;568	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	M	568;568;567;577;577	ENSP00000386497:V568M;ENSP00000386213:V568M;ENSP00000446237:V577M;ENSP00000335100:V577M	ENSP00000314213:V567M	V	+	1	0	MYO3B	170957162	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.833000	0.55790	0.737000	0.32582	0.655000	0.94253	GTG		0.408	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			13	59	0	0	0	1	0	13	59				
WDR49	151790	broad.mit.edu	37	3	167240158	167240158	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:167240158C>T	ENST00000308378.3	-	12	1968	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D380N|WDR49_ENST00000453925.2_Missense_Mutation_p.D520N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	555										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTGTTGGGTCTAAACAAGAT	0.308																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1663-1665)Gac>Aac		WD repeat domain 49							103.0	106.0	105.0					3																	167240158		2201	4300	6501	SO:0001583	missense	151790							g.chr3:167240158C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1663G>A	3.37:g.167240158C>T	ENSP00000311343:p.Asp555Asn					WDR49_ENST00000453925.2_Missense_Mutation_p.D520N|WDR49_ENST00000476376.1_Missense_Mutation_p.D380N|WDR49_ENST00000479765.1_Intron	p.D555N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			12	1968	-			555					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1663G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.195392	0.00299	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.52754	0.65;1.96;2.23	5.02	4.13	0.48395	.	0.567259	0.17755	N	0.163101	T	0.43255	0.1239	M	0.62723	1.935	0.09310	N	1	B;B	0.23650	0.0;0.089	B;B	0.22152	0.001;0.038	T	0.28839	-1.0031	10	0.18276	T	0.48	.	11.709	0.51614	0.0:0.8213:0.1787:0.0	.	520;555	E7EQK3;Q8IV35	.;WDR49_HUMAN	N	555;380;520	ENSP00000311343:D555N;ENSP00000420508:D380N;ENSP00000410863:D520N	ENSP00000311343:D555N	D	-	1	0	WDR49	168722852	0.029000	0.19370	0.006000	0.13384	0.009000	0.06853	2.320000	0.43797	1.220000	0.43490	-0.181000	0.13052	GAC		0.308	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	37	0	0	0	1	0	7	37				
CDKN2A	1029	broad.mit.edu	37	9	21971153	21971153	+	Nonsense_Mutation	SNP	C	C	A	rs121913383		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:21971153C>A	ENST00000304494.5	-	2	475	c.205G>T	c.(205-207)Gag>Tag	p.E69*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17																	1390	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(16)|Deletion - Frameshift(10)|Substitution - Missense(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)	haematopoietic_and_lymphoid_tissue(286)|skin(175)|central_nervous_system(167)|lung(153)|urinary_tract(91)|bone(74)|oesophagus(57)|soft_tissue(57)|upper_aerodigestive_tract(54)|pleura(51)|ovary(36)|pancreas(35)|kidney(32)|breast(32)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(205-207)Gag>Tag		cyclin-dependent kinase inhibitor 2A							8.0	10.0	9.0					9																	21971153		2147	4236	6383	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971153C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.205G>T	9.37:g.21971153C>A	ENSP00000307101:p.Glu69*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*	p.E69*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	475	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	69		E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.205G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.888184|5.888184	0.97068|0.97068	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|T;T	.|0.78246	.|-1.16;-1.09	5.79|5.79	3.97|3.97	0.46021|0.46021	.|.	.|0.859520	.|0.09600	.|N	.|0.780264	.|T	.|0.74412	.|0.3713	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999929|0.999929	.|D	.|0.63880	.|0.993	.|P	.|0.52758	.|0.708	.|T	.|0.65857	.|-0.6066	.|10	0.66056|0.48119	D|T	0.02|0.1	-9.2069|-9.2069	9.9469|9.9469	0.41613|0.41613	0.0:0.7792:0.0:0.2208|0.0:0.7792:0.0:0.2208	.|.	.|124	.|Q8N726	.|CD2A2_HUMAN	X|V	69|124;83	.|ENSP00000355153:G124V;ENSP00000432664:G83V	ENSP00000307101:E69X|ENSP00000355153:G124V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961153|21961153	0.978000|0.978000	0.34361|0.34361	0.219000|0.219000	0.23793|0.23793	0.464000|0.464000	0.32679|0.32679	2.592000|2.592000	0.46171|0.46171	0.809000|0.809000	0.34255|0.34255	-0.226000|-0.226000	0.12346|0.12346	GAG|GGA		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	11	1	0	0.0215528	1	0.0218156	5	11				
VPS13A	23230	broad.mit.edu	37	9	79841447	79841447	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:79841447G>T	ENST00000360280.3	+	15	1550	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	VPS13A_ENST00000376636.3_Missense_Mutation_p.W430C|VPS13A_ENST00000357409.5_Missense_Mutation_p.W430C|VPS13A_ENST00000376634.4_Missense_Mutation_p.W430C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	430					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAAAGGGTGGTTTAGCTGGC	0.323																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1288-1290)tgG>tgT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							120.0	125.0	124.0					9																	79841447		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79841447G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1290G>T	9.37:g.79841447G>T	ENSP00000353422:p.Trp430Cys					VPS13A_ENST00000376634.4_Missense_Mutation_p.W430C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W430C|VPS13A_ENST00000357409.5_Missense_Mutation_p.W430C	p.W430C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			15	1550	+			430					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1290G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677894	0.68042	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.61627	0.22;0.09;0.12;0.21	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.999;0.997;0.997	T	0.82985	-0.0185	10	0.87932	D	0	.	19.311	0.94187	0.0:0.0:1.0:0.0	.	430;430;430;430	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	C	430	ENSP00000365821:W430C;ENSP00000365823:W430C;ENSP00000353422:W430C;ENSP00000349985:W430C	ENSP00000349985:W430C	W	+	3	0	VPS13A	79031267	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.252000	0.72447	2.578000	0.87016	0.467000	0.42956	TGG		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		18	56	1	0	9.16793e-09	1	1.00123e-08	18	56				
ECM1	1893	broad.mit.edu	37	1	150483467	150483467	+	Silent	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:150483467C>T	ENST00000369047.4	+	6	626	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ECM1_ENST00000369049.4_Silent_p.F194F|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.F167F	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	167	2 X approximate repeats.		F -> I (in LiP). {ECO:0000269|PubMed:12603844}.		angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGATGGCTTCCCCCCTGGGC	0.602																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(499-501)ttC>ttT		extracellular matrix protein 1							90.0	100.0	97.0					1																	150483467		2203	4300	6503	SO:0001819	synonymous_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483467C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.501C>T	1.37:g.150483467C>T						ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.F194F|ECM1_ENST00000346569.6_Silent_p.F167F	p.F167F	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	626	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		167		F -> I (in LiP).	2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	c.501C>T	CCDS953.1																																																																																				0.602	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		5	277	0	0	0	1	0	5	277				
KCNF1	3754	broad.mit.edu	37	2	11053214	11053214	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:11053214C>A	ENST00000295082.1	+	1	1152	c.662C>A	c.(661-663)aCg>aAg	p.T221K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(661-663)aCg>aAg		potassium voltage-gated channel, subfamily F, member 1							60.0	61.0	60.0					2																	11053214		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053214C>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.662C>A	2.37:g.11053214C>A	ENSP00000295082:p.Thr221Lys						p.T221K	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1152	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		221					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.662C>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	6.440	0.449357	0.12223	.	.	ENSG00000162975	ENST00000295082	D	0.97480	-4.4	5.21	5.21	0.72293	.	0.050285	0.85682	D	0.000000	D	0.93854	0.8034	L	0.38838	1.175	0.53688	D	0.999973	B	0.18863	0.031	B	0.15052	0.012	D	0.90862	0.4739	10	0.07030	T	0.85	.	19.1427	0.93451	0.0:1.0:0.0:0.0	.	221	Q9H3M0	KCNF1_HUMAN	K	221	ENSP00000295082:T221K	ENSP00000295082:T221K	T	+	2	0	KCNF1	10970665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.954000	0.56708	2.581000	0.87130	0.655000	0.94253	ACG		0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		6	62	1	0	0.0215528	1	0.0218156	6	62				
HAAO	23498	broad.mit.edu	37	2	42995037	42995037	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:42995037C>T	ENST00000294973.6	-	8	717	c.662G>A	c.(661-663)gGc>gAc	p.G221D		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CTGTCTCAGGCCTTCGCTGCT	0.617																																						ENST00000294973.6																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(661-663)gGc>gAc		3-hydroxyanthranilate 3,4-dioxygenase							100.0	91.0	94.0					2																	42995037		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:42995037C>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.662G>A	2.37:g.42995037C>T	ENSP00000294973:p.Gly221Asp						p.G221D	NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN			8	717	-			221			Domain B (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.662G>A	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	c	2.303	-0.359683	0.05138	.	.	ENSG00000162882	ENST00000294973	T	0.29142	1.58	4.86	3.07	0.35406	Cupin, RmlC-type (1);	0.771739	0.12371	N	0.474814	T	0.23249	0.0562	L	0.45581	1.43	0.31603	N	0.652421	B	0.09022	0.002	B	0.04013	0.001	T	0.33574	-0.9863	10	0.10111	T	0.7	.	7.9569	0.30049	0.0:0.8185:0.0:0.1815	.	221	P46952	3HAO_HUMAN	D	221	ENSP00000294973:G221D	ENSP00000294973:G221D	G	-	2	0	HAAO	42848541	0.056000	0.20664	0.315000	0.25238	0.501000	0.33797	1.482000	0.35486	0.495000	0.27882	0.466000	0.42574	GGC		0.617	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			21	96	0	0	0	1	0	21	96				
ZEB2	9839	broad.mit.edu	37	2	145187367	145187367	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:145187367G>A	ENST00000558170.2	-	3	1484	c.300C>T	c.(298-300)aaC>aaT	p.N100N	ZEB2_ENST00000303660.4_Silent_p.N100N|ZEB2_ENST00000409487.3_Silent_p.N100N|ZEB2_ENST00000539609.3_Silent_p.N100N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	100					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTAGAATCTCGTTGTTGTGCC	0.488																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CD023855	ZEB2	D		c.(298-300)aaC>aaT		zinc finger E-box binding homeobox 2							141.0	130.0	134.0					2																	145187367		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187367G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.300C>T	2.37:g.145187367G>A						ZEB2_ENST00000539609.3_Silent_p.N100N|ZEB2_ENST00000409487.3_Silent_p.N100N|ZEB2_ENST00000303660.4_Silent_p.N100N	p.N100N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	1484	-			100					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.300C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060378	0.08339	.	.	ENSG00000169554	ENST00000419938;ENST00000431672;ENST00000440875	.	.	.	5.64	-5.68	0.02436	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.65166	-0.6234	4	.	.	.	2.7737	15.414	0.74948	0.679:0.0:0.321:0.0	.	.	.	.	M	76;90;87	.	.	T	-	2	0	ZEB2	144903837	0.023000	0.18921	0.004000	0.12327	0.912000	0.54170	0.385000	0.20685	-0.981000	0.03520	-0.199000	0.12753	ACG		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	49	0	0	0	1	0	10	49				
PCDHB12	56124	broad.mit.edu	37	5	140590457	140590457	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140590457G>A	ENST00000239450.2	+	1	2167	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V323M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.721																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1978-1980)Gtg>Atg									24.0	28.0	27.0					5																	140590457		2146	4166	6312	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590457G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1978G>A	5.37:g.140590457G>A	ENSP00000239450:p.Val660Met					PCDHB12_ENST00000541609.1_Missense_Mutation_p.V323M	p.V660M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2167	+			660			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1978G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	g	14.69	2.611408	0.46631	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.34859	1.34;1.34	3.77	2.89	0.33648	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46870	0.1415	H	0.94462	3.54	0.31363	N	0.68108	P	0.45594	0.862	B	0.37692	0.256	T	0.62487	-0.6844	9	0.72032	D	0.01	.	8.8217	0.35030	0.0:0.1628:0.6688:0.1684	.	660	Q9Y5F1	PCDBC_HUMAN	M	323;660;280	ENSP00000440199:V323M;ENSP00000239450:V660M	ENSP00000239450:V660M	V	+	1	0	PCDHB12	140570641	0.000000	0.05858	0.997000	0.53966	0.839000	0.47603	-0.471000	0.06631	0.708000	0.31955	-0.415000	0.06103	GTG		0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		23	79	0	0	0	1	0	23	79				
DRC1	92749	broad.mit.edu	37	2	26667093	26667093	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:26667093G>A	ENST00000288710.2	+	9	1106	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	344					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAACCAGCCTGCATGATATAC	0.423																																						ENST00000288710.2																			0											c.(1030-1032)ctG>ctA		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							106.0	97.0	100.0					2																	26667093		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26667093G>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1032G>A	2.37:g.26667093G>A						DRC1_ENST00000483675.1_3'UTR	p.L344L	NM_145038.2	NP_659475.2					9	1106	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1032G>A	CCDS1723.1																																																																																				0.423	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		13	61	0	0	0	1	0	13	61				
THSD7B	80731	broad.mit.edu	37	2	137872846	137872846	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:137872846C>T	ENST00000409968.1	+	5	1530	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	THSD7B_ENST00000413152.2_Missense_Mutation_p.A420V|THSD7B_ENST00000272643.3_Missense_Mutation_p.A451V|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	451	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCTGCCGCACTGAGGGCC	0.587																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1351-1353)gCa>gTa		thrombospondin, type I, domain containing 7B							19.0	24.0	22.0					2																	137872846		2006	4181	6187	SO:0001583	missense	80731							g.chr2:137872846C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1352C>T	2.37:g.137872846C>T	ENSP00000387145:p.Ala451Val					THSD7B_ENST00000413152.2_Missense_Mutation_p.A420V|THSD7B_ENST00000272643.3_Missense_Mutation_p.A451V|THSD7B_ENST00000543459.1_Intron	p.A451V						BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1530	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1352C>T		.	.	.	.	.	.	.	.	.	.	C	11.10	1.539607	0.27563	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23552	2.43;2.3;1.9	4.88	1.9	0.25705	.	0.809007	0.11570	N	0.550898	T	0.15869	0.0382	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.16289	0.015;0.015	T	0.33574	-0.9863	10	0.15952	T	0.53	.	6.8253	0.23880	0.0:0.6845:0.1441:0.1715	.	451;420	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	451;451;420	ENSP00000387145:A451V;ENSP00000272643:A451V;ENSP00000413841:A420V	ENSP00000272643:A451V	A	+	2	0	THSD7B	137589316	0.004000	0.15560	0.003000	0.11579	0.008000	0.06430	0.568000	0.23623	0.584000	0.29591	0.655000	0.94253	GCA		0.587	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	22	0	0	0	1	0	6	22				
RBBP8NL	140893	broad.mit.edu	37	20	60986001	60986001	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr20:60986001G>T	ENST00000252998.1	-	14	2084	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	643						extracellular space (GO:0005615)											TGGGCTCCCGGGCCCCTCAGT	0.657																																						ENST00000252998.1																			0											c.(1927-1929)cCc>cAc		RBBP8 N-terminal like							98.0	97.0	97.0					20																	60986001		2203	4300	6503	SO:0001583	missense	140893							g.chr20:60986001G>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1928C>A	20.37:g.60986001G>T	ENSP00000252998:p.Pro643His						p.P643H	NM_080833.2	NP_543023.2					14	2084	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	c.1928C>A	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386144	0.25031	.	.	ENSG00000130701	ENST00000252998	T	0.20738	2.05	2.79	2.79	0.32731	.	0.335346	0.19977	N	0.101847	T	0.23688	0.0573	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.57911	0.829	T	0.02365	-1.1170	10	0.66056	D	0.02	-1.9493	9.2429	0.37506	0.0:0.0:1.0:0.0	.	643	Q8NC74	CT151_HUMAN	H	643	ENSP00000252998:P643H	ENSP00000252998:P643H	P	-	2	0	C20orf151	60419396	0.010000	0.17322	0.003000	0.11579	0.003000	0.03518	1.929000	0.40114	1.887000	0.54652	0.491000	0.48974	CCC		0.657	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		19	134	1	0	1.37522e-17	1	1.56361e-17	19	134				
CHPF	79586	broad.mit.edu	37	2	220404590	220404590	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220404590C>T	ENST00000243776.6	-	4	2091	c.1843G>A	c.(1843-1845)Ggg>Agg	p.G615R	CHPF_ENST00000535926.1_Missense_Mutation_p.G453R	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	615					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GTGTCTGGCCCGGCCAGCAGG	0.617																																						ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(1843-1845)Ggg>Agg		chondroitin polymerizing factor							81.0	87.0	85.0					2																	220404590		2200	4299	6499	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404590C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1843G>A	2.37:g.220404590C>T	ENSP00000243776:p.Gly615Arg					CHPF_ENST00000535926.1_Missense_Mutation_p.G453R	p.G615R	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2091	-		Renal(207;0.0183)	615					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1843G>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280077	0.59758	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15139	2.45;2.45	4.62	4.62	0.57501	.	0.296242	0.34484	N	0.003921	T	0.22820	0.0551	N	0.22421	0.69	0.40526	D	0.980889	D	0.53619	0.961	P	0.55345	0.774	T	0.02567	-1.1140	10	0.32370	T	0.25	-34.5095	18.0261	0.89269	0.0:1.0:0.0:0.0	.	615	Q8IZ52	CHSS2_HUMAN	R	615;453	ENSP00000243776:G615R;ENSP00000445571:G453R	ENSP00000243776:G615R	G	-	1	0	CHPF	220112834	0.908000	0.30866	1.000000	0.80357	0.998000	0.95712	1.167000	0.31847	2.563000	0.86464	0.561000	0.74099	GGG		0.617	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		19	226	0	0	0	1	0	19	226				
ZNF594	84622	broad.mit.edu	37	17	5086093	5086093	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:5086093G>T	ENST00000399604.4	-	1	1599	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T	ZNF594_ENST00000575779.1_Missense_Mutation_p.P487T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	487					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)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACTGATAGGGCTTCTCTCCA	0.453																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1459-1461)Ccc>Acc		zinc finger protein 594							63.0	67.0	66.0					17																	5086093		2192	4298	6490	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086093G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1459C>A	17.37:g.5086093G>T	ENSP00000382513:p.Pro487Thr					ZNF594_ENST00000575779.1_Missense_Mutation_p.P487T	p.P487T			Q96JF6	ZN594_HUMAN			1	1599	-			487					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1459C>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032128	0.54790	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.28895	1.59	1.75	1.75	0.24633	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50446	0.1616	M	0.73372	2.23	0.24944	N	0.991833	D	0.69078	0.997	D	0.78314	0.991	T	0.26744	-1.0094	9	0.72032	D	0.01	.	9.033	0.36271	0.0:0.0:1.0:0.0	.	487	Q96JF6	ZN594_HUMAN	T	487;82	ENSP00000382513:P487T	ENSP00000373874:P82T	P	-	1	0	ZNF594	5026817	0.999000	0.42202	0.015000	0.15790	0.531000	0.34715	3.551000	0.53698	0.961000	0.38030	0.313000	0.20887	CCC		0.453	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		13	63	1	0	0.000151284	1	0.000163073	13	63				
BMP3	651	broad.mit.edu	37	4	81967395	81967395	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:81967395G>A	ENST00000282701.2	+	2	1140	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	274					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCAAATGGGATAGCCACAT	0.517																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(820-822)Gat>Aat		bone morphogenetic protein 3							78.0	82.0	81.0					4																	81967395		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967395G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.820G>A	4.37:g.81967395G>A	ENSP00000282701:p.Asp274Asn						p.D274N	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1140	+			274					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.820G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	2.543	-0.305810	0.05495	.	.	ENSG00000152785	ENST00000282701	T	0.73897	-0.79	5.27	2.44	0.29823	.	0.464521	0.27245	N	0.020242	T	0.54727	0.1876	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28586	-1.0039	10	0.19590	T	0.45	.	6.5013	0.22170	0.2219:0.1376:0.6405:0.0	.	274	P12645	BMP3_HUMAN	N	274	ENSP00000282701:D274N	ENSP00000282701:D274N	D	+	1	0	BMP3	82186419	1.000000	0.71417	0.452000	0.26994	0.005000	0.04900	2.038000	0.41184	1.380000	0.46344	-0.123000	0.14984	GAT		0.517	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			19	105	0	0	0	1	0	19	105				
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A	rs374867810		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567																																						ENST00000287652.4																			1	Substitution - Missense(1)	p.R415H(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1243-1245)cGc>cAc		TatD DNase domain containing 2							86.0	86.0	86.0					3																	10312110		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312110G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1244G>A	3.37:g.10312110G>A	ENSP00000287652:p.Arg415His					TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	p.R415H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2295	+			415					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1244G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.822940	0.16678	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.43294	0.95;0.95	4.65	-7.6	0.01303	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	9	0.30854	T	0.27	-1.0794	1.7629	0.02995	0.2604:0.0815:0.319:0.3391	.	415	Q93075	TATD2_HUMAN	H	415	ENSP00000287652:R415H;ENSP00000408736:R415H	ENSP00000287652:R415H	R	+	2	0	TATDN2	10287110	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.096000	0.11059	-0.765000	0.04645	-0.280000	0.10049	CGC		0.567	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	134	0	0	0	1	0	4	134				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	49	0	0	0	1	0	9	49				
DDX23	9416	broad.mit.edu	37	12	49230810	49230810	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:49230810G>A	ENST00000308025.3	-	9	956	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	293					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACCTGGTGCCGTTCTTTGTAC	0.478																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(877-879)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							216.0	221.0	220.0					12																	49230810		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230810G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.877C>T	12.37:g.49230810G>A	ENSP00000310723:p.Arg293Trp						p.R293W	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			9	956	-			293					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.877C>T	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816030	0.70912	.	.	ENSG00000174243	ENST00000550834;ENST00000308025	T	0.24723	1.84	5.69	4.72	0.59763	.	0.056462	0.64402	D	0.000002	T	0.49541	0.1563	M	0.72479	2.2	0.54753	D	0.999987	D	0.76494	0.999	D	0.66847	0.947	T	0.52139	-0.8615	10	0.87932	D	0	-12.414	16.3755	0.83383	0.0:0.0:0.8593:0.1406	.	293	Q9BUQ8	DDX23_HUMAN	W	137;293	ENSP00000310723:R293W	ENSP00000310723:R293W	R	-	1	2	DDX23	47517077	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.488000	0.45276	2.687000	0.91594	0.462000	0.41574	CGG		0.478	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		5	395	0	0	0	1	0	5	395				
INHA	3623	broad.mit.edu	37	2	220439713	220439713	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220439713T>G	ENST00000243786.2	+	2	746	c.566T>G	c.(565-567)cTg>cGg	p.L189R	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	189					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCTCTCTGCTGACCCACCCC	0.682																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(565-567)cTg>cGg		inhibin, alpha							84.0	78.0	80.0					2																	220439713		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439713T>G		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.566T>G	2.37:g.220439713T>G	ENSP00000243786:p.Leu189Arg					INHA_ENST00000489456.1_3'UTR	p.L189R	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	746	+		Renal(207;0.0183)	189					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.566T>G	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276463	0.40294	.	.	ENSG00000123999	ENST00000243786	D	0.86297	-2.1	5.48	5.48	0.80851	.	0.428219	0.23977	N	0.042715	D	0.93789	0.8014	M	0.86502	2.82	0.40631	D	0.98185	D	0.71674	0.998	D	0.66351	0.943	D	0.95028	0.8166	10	0.72032	D	0.01	-10.3607	15.581	0.76439	0.0:0.0:0.0:1.0	.	189	P05111	INHA_HUMAN	R	189	ENSP00000243786:L189R	ENSP00000243786:L189R	L	+	2	0	INHA	220147957	1.000000	0.71417	0.916000	0.36221	0.034000	0.12701	6.885000	0.75606	2.074000	0.62210	0.459000	0.35465	CTG		0.682	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			14	137	0	0	0	1	0	14	137				
INVS	27130	broad.mit.edu	37	9	102866838	102866838	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:102866838C>T	ENST00000262457.2	+	2	220	c.35C>T	c.(34-36)tCa>tTa	p.S12L	RN7SL75P_ENST00000461926.2_RNA|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000374921.3_Missense_Mutation_p.S12L|INVS_ENST00000262456.2_Missense_Mutation_p.S12L|INVS_ENST00000460636.2_3'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	12					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTTGCTGGTTCATCATTAGCA	0.453																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(34-36)tCa>tTa		inversin							123.0	102.0	109.0					9																	102866838		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:102866838C>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.35C>T	9.37:g.102866838C>T	ENSP00000262457:p.Ser12Leu					INVS_ENST00000374921.3_Missense_Mutation_p.S12L|INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.S12L|INVS_ENST00000541287.1_5'UTR	p.S12L	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			2	220	+		Acute lymphoblastic leukemia(62;0.056)	12					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.35C>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456901	0.63401	.	.	ENSG00000119509	ENST00000262457;ENST00000262456;ENST00000374921	T;T;T	0.53206	0.94;1.07;0.63	5.49	5.49	0.81192	.	0.115663	0.64402	D	0.000009	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	P;P	0.48764	0.915;0.902	P;B	0.45071	0.468;0.442	T	0.43081	-0.9413	10	0.56958	D	0.05	.	16.2926	0.82758	0.0:1.0:0.0:0.0	.	12;12	Q9Y283;Q9Y283-2	INVS_HUMAN;.	L	12	ENSP00000262457:S12L;ENSP00000262456:S12L;ENSP00000364056:S12L	ENSP00000262456:S12L	S	+	2	0	INVS	101906659	0.998000	0.40836	0.700000	0.30305	0.246000	0.25737	2.428000	0.44749	2.579000	0.87056	0.563000	0.77884	TCA		0.453	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		6	36	0	0	0	1	0	6	36				
HUWE1	10075	broad.mit.edu	37	X	53563190	53563190	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:53563190T>A	ENST00000342160.3	-	79	12906	c.12449A>T	c.(12448-12450)gAt>gTt	p.D4150V	HUWE1_ENST00000262854.6_Missense_Mutation_p.D4150V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4150	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGTGGTAATCTTCACTCTC	0.448																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12448-12450)gAt>gTt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							154.0	108.0	124.0					X																	53563190		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563190T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12449A>T	X.37:g.53563190T>A	ENSP00000340648:p.Asp4150Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.D4150V	p.D4150V			Q7Z6Z7	HUWE1_HUMAN			79	12906	-			4150			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12449A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.00|15.00	2.702245|2.702245	0.48307|0.48307	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.66815|.	-0.23;-0.23|.	5.57|5.57	5.57|5.57	0.84162|0.84162	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89643|0.89643	0.6774|0.6774	H|H	0.99507|0.99507	4.6|4.6	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.997;0.997|.	D|D	0.93663|0.93663	0.6983|0.6983	10|5	0.87932|.	D|.	0|.	.|.	13.8509|13.8509	0.63496|0.63496	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4150;4134|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|S	4150|3183;972	ENSP00000340648:D4150V;ENSP00000262854:D4150V|.	ENSP00000262854:D4150V|.	D|R	-|-	2|3	0|2	HUWE1|HUWE1	53579915|53579915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.434000|7.434000	0.80377|0.80377	1.984000|1.984000	0.57885|0.57885	0.481000|0.481000	0.45027|0.45027	GAT|AGA		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	24	0	0	0	1	0	12	24				
SIPA1L3	23094	broad.mit.edu	37	19	38572282	38572282	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:38572282T>G	ENST00000222345.6	+	3	586	c.77T>G	c.(76-78)cTc>cGc	p.L26R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	26					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGATGTCCTCCCTGGGCCA	0.677																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(76-78)cTc>cGc		signal-induced proliferation-associated 1 like 3							32.0	30.0	30.0					19																	38572282		2197	4289	6486	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572282T>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.77T>G	19.37:g.38572282T>G	ENSP00000222345:p.Leu26Arg						p.L26R	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	586	+			26					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.77T>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.319528	0.23994	.	.	ENSG00000105738	ENST00000222345	T	0.76316	-1.01	4.55	4.55	0.56014	.	0.000000	0.33057	N	0.005332	T	0.69797	0.3151	N	0.08118	0	0.37073	D	0.898614	D	0.65815	0.995	P	0.56278	0.795	T	0.76479	-0.2944	10	0.52906	T	0.07	-31.4218	10.2091	0.43131	0.0:0.0:0.0:1.0	.	26	O60292	SI1L3_HUMAN	R	26	ENSP00000222345:L26R	ENSP00000222345:L26R	L	+	2	0	SIPA1L3	43264122	0.680000	0.27605	0.953000	0.39169	0.387000	0.30353	1.715000	0.37971	1.901000	0.55032	0.460000	0.39030	CTC		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	48	0	0	0	1	0	5	48				
SMPD4	55627	broad.mit.edu	37	2	130910698	130910698	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:130910698G>A	ENST00000409031.1	-	19	3337	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	SMPD4_ENST00000452225.2_Missense_Mutation_p.P471L|SMPD4_ENST00000431183.2_Missense_Mutation_p.P628L|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000453750.1_Missense_Mutation_p.P479L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P701L|SMPD4_ENST00000443958.2_Missense_Mutation_p.P394L|SMPD4_ENST00000339679.7_Missense_Mutation_p.P588L|SMPD4_ENST00000426662.2_Missense_Mutation_p.P366L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	691					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGCAGCTCCGGGTCCCCCTG	0.572																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2188-2190)cCg>cTg		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						60.0	69.0	66.0					2																	130910698		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130910698G>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2189C>T	2.37:g.130910698G>A	ENSP00000386531:p.Pro730Leu					SMPD4_ENST00000339679.7_Missense_Mutation_p.P588L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P701L|SMPD4_ENST00000443958.2_Missense_Mutation_p.P394L|SMPD4_ENST00000426662.2_Missense_Mutation_p.P366L|SMPD4_ENST00000453750.1_Missense_Mutation_p.P479L|SMPD4_ENST00000452225.2_Missense_Mutation_p.P471L|SMPD4_ENST00000431183.2_Missense_Mutation_p.P628L	p.P730L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			19	3337	-	Colorectal(110;0.1)		691					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2189C>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.21|10.21	1.287640|1.287640	0.23478|0.23478	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662|ENST00000439886	.|.	.|.	.|.	4.09|4.09	-0.946|-0.946	0.10385|0.10385	.|.	0.872701|.	0.10017|.	N|.	0.726395|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.41824|0.41824	1.3|1.3	0.21627|0.21627	N|N	0.999615|0.999615	B;B;B;B;B;B;B;B;B;B|.	0.27853|.	0.117;0.159;0.117;0.191;0.0;0.014;0.01;0.01;0.007;0.082|.	B;B;B;B;B;B;B;B;B;B|.	0.21151|.	0.02;0.029;0.02;0.033;0.0;0.006;0.009;0.006;0.007;0.029|.	T|T	0.31308|0.31308	-0.9948|-0.9948	9|5	0.36615|.	T|.	0.2|.	.|.	5.7486|5.7486	0.18134|0.18134	0.3318:0.1491:0.519:0.0|0.3318:0.1491:0.519:0.0	.|.	366;471;628;588;479;662;691;730;737;262|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	L|W	701;730;628;479;394;588;471;366|605	.|.	ENSP00000339721:P588L|.	P|R	-|-	2|1	0|2	SMPD4|SMPD4	130627168|130627168	0.997000|0.997000	0.39634|0.39634	0.011000|0.011000	0.14972|0.14972	0.044000|0.044000	0.14063|0.14063	2.502000|2.502000	0.45398|0.45398	-0.101000|-0.101000	0.12219|0.12219	0.549000|0.549000	0.68633|0.68633	CCG|CGG		0.572	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		4	136	0	0	0	1	0	4	136				
MIIP	60672	broad.mit.edu	37	1	12091374	12091374	+	Missense_Mutation	SNP	G	G	A	rs146889396		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12091374G>A	ENST00000235332.4	+	9	1163	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.Q299Q	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	332										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAAAAGCTCAGCCCCCAGGAA	0.602																																						ENST00000235332.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(994-996)Gcc>Acc		migration and invasion inhibitory protein							48.0	48.0	48.0					1																	12091374		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12091374G>A	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.994G>A	1.37:g.12091374G>A	ENSP00000235332:p.Ala332Thr					MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.Q299Q	p.A332T	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN			9	1163	+			332					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.994G>A	CCDS143.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245665	0.59103	.	.	ENSG00000116691	ENST00000235332	T	0.25912	1.77	4.8	3.86	0.44501	.	0.660669	0.14219	N	0.333547	T	0.45597	0.1350	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.32375	-0.9909	10	0.52906	T	0.07	-21.2151	10.0141	0.42003	0.0:0.0:0.7986:0.2014	.	332	Q5JXC2	MIIP_HUMAN	T	332	ENSP00000235332:A332T	ENSP00000235332:A332T	A	+	1	0	MIIP	12013961	0.021000	0.18746	0.355000	0.25773	0.392000	0.30506	2.120000	0.41968	1.202000	0.43218	0.491000	0.48974	GCC		0.602	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		14	61	0	0	0	1	0	14	61				
TRABD2A	129293	broad.mit.edu	37	2	85097533	85097533	+	Missense_Mutation	SNP	C	C	T	rs369195191		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:85097533C>T	ENST00000409520.2	-	2	527	c.485G>A	c.(484-486)cGc>cAc	p.R162H	TRABD2A_ENST00000409133.1_Missense_Mutation_p.R162H|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R162H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	162					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AGGCCTCTTGCGCTCCCAGTT	0.557																																						ENST00000335459.5																			0											c.(484-486)cGc>cAc		TraB domain containing 2A		C	HIS/ARG	0,4290		0,0,2145	105.0	112.0	109.0		485	1.3	0.9	2		109	1,8525		0,1,4262	no	missense	C2orf89	NM_001080824.1	29	0,1,6407	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	162/457	85097533	1,12815	2145	4263	6408	SO:0001583	missense	129293							g.chr2:85097533C>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.485G>A	2.37:g.85097533C>T	ENSP00000387075:p.Arg162His					TRABD2A_ENST00000409520.2_Missense_Mutation_p.R162H|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R162H	p.R162H	NM_001080824.1	NP_001074293.1					2	690	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.485G>A		.	.	.	.	.	.	.	.	.	.	C	17.05	3.291202	0.59976	0.0	1.17E-4	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.11277	2.79;2.79;2.79	3.14	1.3	0.21679	.	0.179929	0.32231	N	0.006398	T	0.26557	0.0649	.	.	.	0.38244	D	0.941426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.996	T	0.02214	-1.1194	9	0.59425	D	0.04	.	6.6381	0.22895	0.0:0.7479:0.0:0.2521	.	162;162;162	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	H	162	ENSP00000335004:R162H;ENSP00000387075:R162H;ENSP00000387183:R162H	ENSP00000335004:R162H	R	-	2	0	C2orf89	84951044	1.000000	0.71417	0.926000	0.36857	0.636000	0.38137	1.945000	0.40273	0.097000	0.17492	0.462000	0.41574	CGC		0.557	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		4	160	0	0	0	1	0	4	160				
ELMO3	79767	broad.mit.edu	37	16	67236795	67236795	+	Splice_Site	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:67236795G>T	ENST00000360833.1	+	15	1728	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	ELMO3_ENST00000393997.2_Splice_Site_p.L574L|ELMO3_ENST00000477898.1_Splice_Site_p.L408L|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	521	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTCTATCAGGGAGCTGCGGG	0.627																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.e16-1		engulfment and cell motility 3							37.0	44.0	42.0					16																	67236795		2109	4237	6346	SO:0001630	splice_region_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67236795G>T		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1671-1G>T	16.37:g.67236795G>T						ELMO3_ENST00000360833.1_Splice_Site_p.L557_splice|ELMO3_ENST00000477898.1_Splice_Site_p.L408_splice	p.L574_splice	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	16	1779	+		Ovarian(137;0.0563)	521			PH.		B4DV86|Q9H8A5	Splice_Site	SNP	ENST00000360833.1	37	c.1721_splice																																																																																					0.627	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712	Silent	9	54	1	0	0.000442599	1	0.000470971	9	54				
PCP4	5121	broad.mit.edu	37	21	41300944	41300944	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:41300944G>C	ENST00000328619.5	+	3	282	c.97G>C	c.(97-99)Gac>Cac	p.D33H	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	33					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ATTTGACATTGACATGGATGC	0.463																																						ENST00000328619.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(97-99)Gac>Cac		Purkinje cell protein 4							119.0	108.0	112.0					21																	41300944		2203	4300	6503	SO:0001583	missense	5121				central nervous system development	cytosol|nucleus		g.chr21:41300944G>C	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.97G>C	21.37:g.41300944G>C	ENSP00000329403:p.Asp33His					PCP4_ENST00000468717.1_3'UTR	p.D33H	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN			3	282	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	33					A6NDJ9|Q6ICS4|Q93059	Missense_Mutation	SNP	ENST00000328619.5	37	c.97G>C	CCDS33563.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493115	0.64186	.	.	ENSG00000183036	ENST00000328619	.	.	.	5.39	5.39	0.77823	.	0.051555	0.85682	D	0.000000	D	0.83580	0.5285	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85345	0.1098	8	0.87932	D	0	-21.1591	19.5078	0.95127	0.0:0.0:1.0:0.0	.	33	P48539	PCP4_HUMAN	H	33	.	ENSP00000329403:D33H	D	+	1	0	PCP4	40222814	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.155000	0.94700	2.676000	0.91093	0.655000	0.94253	GAC		0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		15	76	0	0	0	1	0	15	76				
SATB2	23314	broad.mit.edu	37	2	200137348	200137348	+	Silent	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:200137348G>T	ENST00000417098.1	-	11	2604	c.1788C>A	c.(1786-1788)ccC>ccA	p.P596P	SATB2_ENST00000428695.1_Silent_p.P478P|SATB2_ENST00000443023.1_Silent_p.P537P|SATB2_ENST00000260926.5_Silent_p.P596P|SATB2_ENST00000457245.1_Silent_p.P596P	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	596					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTTCTCTGGGAGGGGAAC	0.507																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1609-1611)ccC>ccA		SATB homeobox 2							70.0	80.0	77.0					2																	200137348		2203	4299	6502	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137348G>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1788C>A	2.37:g.200137348G>T						SATB2_ENST00000428695.1_Silent_p.P478P|SATB2_ENST00000457245.1_Silent_p.P596P|SATB2_ENST00000417098.1_Silent_p.P596P|SATB2_ENST00000260926.5_Silent_p.P596P	p.P537P			Q9UPW6	SATB2_HUMAN			10	3076	-			596					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1611C>A	CCDS2327.1																																																																																				0.507	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		17	95	1	0	6.33239e-15	1	7.10254e-15	17	95				
TYW1	55253	broad.mit.edu	37	7	66548449	66548449	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr7:66548449G>A	ENST00000359626.5	+	11	1471	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	436					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTGAGTGGCGGTGGAAGATG	0.433																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1306-1308)cGg>cAg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							95.0	93.0	94.0					7																	66548449		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548449G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1307G>A	7.37:g.66548449G>A	ENSP00000352645:p.Arg436Gln						p.R436Q	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1471	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	436					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1307G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750532	0.69533	.	.	ENSG00000198874	ENST00000359626	D	0.91945	-2.94	4.62	3.74	0.42951	Radical SAM (1);	0.000000	0.64402	U	0.000001	D	0.90535	0.7034	M	0.78049	2.395	0.54753	D	0.999983	B	0.30193	0.272	B	0.28232	0.087	D	0.88461	0.3055	10	0.51188	T	0.08	.	10.6006	0.45365	0.0957:0.0:0.9043:0.0	.	436	Q9NV66	TYW1_HUMAN	Q	436	ENSP00000352645:R436Q	ENSP00000352645:R436Q	R	+	2	0	TYW1	66185884	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.948000	0.70249	1.068000	0.40764	0.603000	0.83216	CGG		0.433	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		3	50	0	0	0	1	0	3	50				
ADCY7	113	broad.mit.edu	37	16	50338857	50338857	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:50338857C>T	ENST00000394697.2	+	12	1922	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ADCY7_ENST00000566433.2_Missense_Mutation_p.R528W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R528W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R528W|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	528					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGCCACCGCCGGACCCCAGA	0.657																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1582-1584)Cgg>Tgg		adenylate cyclase 7	Bromocriptine(DB01200)						72.0	77.0	75.0					16																	50338857		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50338857C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1582C>T	16.37:g.50338857C>T	ENSP00000378187:p.Arg528Trp					ADCY7_ENST00000566433.2_Missense_Mutation_p.R528W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R528W|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.R528W	p.R528W			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	1922	+		all_cancers(37;0.0127)	528					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1582C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	5.524	0.281589	0.10458	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.77489	-1.1;-1.1;-1.1	3.61	1.49	0.22878	.	0.000000	0.39759	U	0.001269	T	0.71525	0.3350	M	0.69823	2.125	0.80722	D	1	B;B	0.27853	0.006;0.191	B;B	0.21708	0.009;0.036	T	0.67550	-0.5642	10	0.54805	T	0.06	.	8.1573	0.31176	0.4359:0.5641:0.0:0.0	.	528;528	P51828;F5H4D1	ADCY7_HUMAN;.	W	528	ENSP00000445046:R528W;ENSP00000378187:R528W;ENSP00000254235:R528W	ENSP00000254235:R528W	R	+	1	2	ADCY7	48896358	0.454000	0.25728	0.996000	0.52242	0.297000	0.27493	-0.368000	0.07543	0.448000	0.26722	0.491000	0.48974	CGG		0.657	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			6	89	0	0	0	1	0	6	89				
PHF12	57649	broad.mit.edu	37	17	27239675	27239675	+	Silent	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:27239675G>C	ENST00000332830.4	-	9	2724	c.1914C>G	c.(1912-1914)acC>acG	p.T638T	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.T638T|PHF12_ENST00000268756.3_Silent_p.T638T	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCAAAGTGCTGGTGTTCTCGA	0.577																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1912-1914)acC>acG		PHD finger protein 12							84.0	93.0	90.0					17																	27239675		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27239675G>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1914C>G	17.37:g.27239675G>C						PHF12_ENST00000332830.4_Silent_p.T638T|PHF12_ENST00000268756.3_Silent_p.T638T|PHF12_ENST00000582655.1_5'UTR	p.T638T			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	2260	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		638			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.1914C>G	CCDS32598.1																																																																																				0.577	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		27	92	0	0	0	1	0	27	92				
DCDC1	341019	broad.mit.edu	37	11	31125264	31125264	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr11:31125264C>A	ENST00000597505.1	-	12	1803	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCACCTCTGGCAAATGCACTC	0.368																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(1804-1806)Gcc>Tcc		doublecortin domain containing 1							113.0	108.0	110.0					11																	31125264		1906	4129	6035	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31125264C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1804G>T	11.37:g.31125264C>A	ENSP00000472625:p.Ala602Ser					DCDC1_ENST00000437348.1_5'UTR	p.A602S			P59894	DCDC1_HUMAN			12	1803	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.1804G>T																																																																																					0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		13	68	1	0	2.32078e-09	1	2.56833e-09	13	68				
ANKRD36BP2	645784	broad.mit.edu	37	2	89102192	89102194	+	RNA	DEL	AAG	AAG	-	rs370497487		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:89102192_89102194delAAG	ENST00000393525.3	+	0	2666_2668									ankyrin repeat domain 36B pseudogene 2																		GTTTAATAATAAGGTGATTTGTA	0.33																																						ENST00000393525.3																			0																																																			645784							g.chr2:89102192_89102194delAAG			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102192_89102194delAAG														0	2666_2668	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.330	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	6						3	6	---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231973926	231973927	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:231973926_231973927delCT	ENST00000258400.3	-	4	1262_1263	c.750_751delAG	c.(748-753)ttagtcfs	p.LV250fs	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	250					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTGTTTTTGACTAAGTAAGCCT	0.45																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(748-753)tttcfs		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)																																			SO:0001589	frameshift_variant	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973926_231973927delCT		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.750_751delAG	2.37:g.231973926_231973927delCT	ENSP00000258400:p.Leu250fs					PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	p.LV250fs	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1262_1263	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	250					B2R9D5|Q53TI1|Q62221|Q6P523	Frame_Shift_Del	DEL	ENST00000258400.3	37	c.750_751delAG	CCDS2483.1																																																																																				0.450	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		10	79						10	79	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aaafs	p.K890fs	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000588462.1_Intron					breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2662-2664)aafs		breast carcinoma amplified sequence 3							6.0	5.0	5.0					17																	59465981		836	1922	2758	SO:0001589	frameshift_variant	54828					nucleus		g.chr17:59465981delA	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000589222.1:c.2662delA	17.37:g.59465981delA	ENSP00000466078:p.Lys890fs					BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000585744.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron	p.K890fs			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		25	2730	+			0						Frame_Shift_Del	DEL	ENST00000589222.1	37	c.2662delA																																																																																					0.443	BCAS3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000449571.1	NM_017679		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		ACCCTGCACAGAAAAAAAGTTG	0.307																																						ENST00000344693.5																			0																																																			391267							g.chr21:15347257_15347258insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15347264_15347264dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.307	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			3	3						3	3	---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152621392	152621392	+	Intron	DEL	G	G	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152621392delG	ENST00000438239.1	+	2	113							Q9NSD4	ZN275_HUMAN	zinc finger protein 275						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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGCACTTGGAGGATTCTG	0.602																																						ENST00000438239.1																			0																																																	SO:0001627	intron_variant	10838							g.chrX:152621392delG	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000438239.1:c.114-1257G>-	X.37:g.152621392delG														0	113	+								A6NE92	RNA	DEL	ENST00000438239.1	37																																																																																						0.602	ZNF275-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471729.1	NM_001080485		2	4						2	4	---	---	---	---
