#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
ARID4A	5926	broad.mit.edu	37	14	58838607	58838607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:58838607C>A	ENST00000355431.3	+	24	4047	c.3674C>A	c.(3673-3675)tCt>tAt	p.S1225Y	ARID4A_ENST00000431317.2_Missense_Mutation_p.S1156Y|RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1156Y|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1171Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1225					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCACAGTGTCTCATGCGGGA	0.403																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3673-3675)tCt>tAt		AT rich interactive domain 4A (RBP1-like)							101.0	81.0	88.0					14																	58838607		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58838607C>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3674C>A	14.37:g.58838607C>A	ENSP00000347602:p.Ser1225Tyr					ARID4A_ENST00000431317.2_Missense_Mutation_p.S1156Y|RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1171Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1156Y	p.S1225Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			24	4047	+			1225					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3674C>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146999	0.57151	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15603	2.41;2.45;2.45;2.45	5.18	5.18	0.71444	.	0.221430	0.38436	N	0.001696	T	0.42131	0.1189	M	0.64997	1.995	0.38461	D	0.947213	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.991;0.998	T	0.37103	-0.9720	10	0.87932	D	0	-14.0825	18.871	0.92315	0.0:1.0:0.0:0.0	.	1156;1225;1171	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Y	1225;1156;1171;1156	ENSP00000347602:S1225Y;ENSP00000344556:S1156Y;ENSP00000378597:S1171Y;ENSP00000397368:S1156Y	ENSP00000344556:S1156Y	S	+	2	0	ARID4A	57908360	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.896000	0.75665	2.690000	0.91761	0.563000	0.77884	TCT		0.403	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		5	40	1	0	0.014758	1	0.0147945	5	40				
ZNF8	7554	broad.mit.edu	37	19	58806859	58806859	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58806859C>T	ENST00000196548.5	+	4	1816	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.S562F			P17098	ZNF8_HUMAN	zinc finger protein 8	562					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAAGAGCCTTCTGTGGGTGCT	0.443																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(1684-1686)tCt>tTt		zinc finger protein 8							47.0	48.0	47.0					19																	58806859		2165	4243	6408	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806859C>T	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1685C>T	19.37:g.58806859C>T	ENSP00000196548:p.Ser562Phe					AC010642.1_ENST00000591325.1_3'UTR	p.S562F	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1816	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	562					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1685C>T	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348108	0.82132	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.10860	2.83	4.57	3.54	0.40534	.	0.483859	0.17700	N	0.164979	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	B	0.25667	0.131	B	0.18561	0.022	T	0.39722	-0.9600	10	0.02654	T	1	-5.2261	8.5125	0.33226	0.0:0.8226:0.0:0.1774	.	562	P17098	ZNF8_HUMAN	F	562;277	ENSP00000196548:S562F	ENSP00000196548:S562F	S	+	2	0	ZNF8	63498671	0.000000	0.05858	0.014000	0.15608	0.833000	0.47200	0.093000	0.15086	2.545000	0.85829	0.456000	0.33151	TCT		0.443	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		18	90	0	0	0	1	0	18	90				
MIA3	375056	broad.mit.edu	37	1	222805641	222805641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:222805641C>T	ENST00000344922.5	+	5	3329	c.3304C>T	c.(3304-3306)Cca>Tca	p.P1102S	MIA3_ENST00000344441.6_Missense_Mutation_p.P1102S|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1102					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCACAGAAGCCAAATACTGA	0.443																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3304-3306)Cca>Tca		melanoma inhibitory activity family, member 3							102.0	97.0	98.0					1																	222805641		1880	4093	5973	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222805641C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3304C>T	1.37:g.222805641C>T	ENSP00000340900:p.Pro1102Ser					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P1102S	p.P1102S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	5	3329	+			1102					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.3304C>T	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.241|9.241	1.038366|1.038366	0.19669|0.19669	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.04551	.|3.6;3.6	3.81|3.81	2.9|2.9	0.33743|0.33743	.|.	.|.	.|.	.|.	.|.	T|T	0.12135|0.12135	0.0295|0.0295	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|D;B	.|0.61080	.|0.989;0.142	.|P;B	.|0.55923	.|0.787;0.044	T|T	0.10268|0.10268	-1.0637|-1.0637	5|9	.|0.42905	.|T	.|0.14	.|.	7.4003|7.4003	0.26960|0.26960	0.0:0.8821:0.0:0.1179|0.0:0.8821:0.0:0.1179	.|.	.|1102;1102	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	V|S	684|1102	.|ENSP00000340900:P1102S;ENSP00000340587:P1102S	.|ENSP00000325973:P1102S	A|P	+|+	2|1	0|0	MIA3|MIA3	220872264|220872264	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.580000|0.580000	0.23803|0.23803	1.188000|1.188000	0.43014|0.43014	-0.262000|-0.262000	0.10625|0.10625	GCC|CCA		0.443	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		63	33	0	0	0	1	0	63	33				
CCDC39	339829	broad.mit.edu	37	3	180397109	180397109	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397109C>G	ENST00000442201.2	-	1	179	c.60G>C	c.(58-60)gcG>gcC	p.A20A	CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Silent_p.A104A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	20					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTCCTCGTTCGCCACCGGGA	0.547																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(310-312)gcG>gcC		coiled-coil domain containing 39							143.0	145.0	145.0					3																	180397109		1981	4171	6152	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397109C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.60G>C	3.37:g.180397109C>G						CCDC39_ENST00000442201.2_Silent_p.A20A	p.A104A			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	931	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		20					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.312G>C	CCDS46964.1																																																																																				0.547	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		52	334	0	0	0	1	0	52	334				
RASGRP2	10235	broad.mit.edu	37	11	64502685	64502685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:64502685G>T	ENST00000354024.3	-	12	1563	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	RASGRP2_ENST00000394432.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000377497.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000377494.1_Missense_Mutation_p.N437K	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	437	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGACGTCAAAGTTCCGGAACA	0.582																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1309-1311)aaC>aaA		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							91.0	74.0	80.0					11																	64502685		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64502685G>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1311C>A	11.37:g.64502685G>T	ENSP00000338864:p.Asn437Lys					RASGRP2_ENST00000394432.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000354024.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000377497.3_Missense_Mutation_p.N437K	p.N437K			Q7LDG7	GRP2_HUMAN			11	2233	-			437			EF-hand 1.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1311C>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776421	0.70107	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.79	2.89	0.33648	EF-hand-like domain (1);	0.117120	0.64402	D	0.000019	T	0.37544	0.1007	M	0.66939	2.045	0.80722	D	1	P;P	0.48589	0.828;0.912	B;P	0.46850	0.221;0.529	T	0.28427	-1.0044	10	0.87932	D	0	-1.8573	4.587	0.12287	0.1985:0.1846:0.6168:0.0	.	437;437	Q7LDG7;A6NDC7	GRP2_HUMAN;.	K	437	ENSP00000366714:N437K;ENSP00000377953:N437K;ENSP00000366717:N437K;ENSP00000338864:N437K	ENSP00000338864:N437K	N	-	3	2	RASGRP2	64259261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.180000	0.32005	1.147000	0.42369	0.561000	0.74099	AAC		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		14	52	1	0	0.00316338	1	0.00321095	14	52				
PLXNB2	23654	broad.mit.edu	37	22	50717426	50717426	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:50717426G>A	ENST00000449103.1	-	28	4544	c.4404C>T	c.(4402-4404)atC>atT	p.I1468I	PLXNB2_ENST00000359337.4_Silent_p.I1468I			O15031	PLXB2_HUMAN	plexin B2	1468					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCTGCACGATCACGCTCA	0.617																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4402-4404)atC>atT		plexin B2							93.0	96.0	95.0					22																	50717426		2200	4295	6495	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717426G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4404C>T	22.37:g.50717426G>A						PLXNB2_ENST00000359337.4_Silent_p.I1468I	p.I1468I			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	28	4544	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1468					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4404C>T	CCDS43035.1																																																																																				0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		21	36	0	0	0	1	0	21	36				
EGR2	1959	broad.mit.edu	37	10	64573737	64573737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:64573737G>A	ENST00000242480.3	-	2	986	c.661C>T	c.(661-663)Cca>Tca	p.P221S	EGR2_ENST00000439032.1_Missense_Mutation_p.P221S|EGR2_ENST00000411732.1_Missense_Mutation_p.P171S|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	221					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGATCATTGGGAAGAGACCT	0.587																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(661-663)Cca>Tca		early growth response 2							97.0	95.0	96.0					10																	64573737		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573737G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.661C>T	10.37:g.64573737G>A	ENSP00000242480:p.Pro221Ser					EGR2_ENST00000411732.1_Missense_Mutation_p.P171S|EGR2_ENST00000439032.1_Missense_Mutation_p.P221S	p.P221S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	986	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		221					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.661C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141667	0.37825	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.19669	2.13;2.13;2.24	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.40332	0.713;0.59	B;B	0.40477	0.33;0.177	T	0.01140	-1.1439	10	0.37606	T	0.19	-21.2281	14.4479	0.67364	0.0:0.0:0.8523:0.1477	.	171;221	P11161-2;P11161	.;EGR2_HUMAN	S	221;221;171	ENSP00000242480:P221S;ENSP00000402040:P221S;ENSP00000387634:P171S	ENSP00000242480:P221S	P	-	1	0	EGR2	64243743	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.764000	0.55264	2.661000	0.90470	0.655000	0.94253	CCA		0.587	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		36	94	0	0	0	1	0	36	94				
GXYLT2	727936	broad.mit.edu	37	3	73016736	73016736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:73016736C>T	ENST00000389617.4	+	6	1176	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	339					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAACTACCGTCCCGATCACTG	0.502																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1015-1017)Ccc>Tcc		glucoside xylosyltransferase 2							90.0	88.0	89.0					3																	73016736		2035	4188	6223	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016736C>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1015C>T	3.37:g.73016736C>T	ENSP00000374268:p.Pro339Ser						p.P339S	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			6	1176	+			339						Missense_Mutation	SNP	ENST00000389617.4	37	c.1015C>T	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743333	0.89663	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.44083	0.93;0.93	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.89095	3.005	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.67090	-0.5758	10	0.21540	T	0.41	.	19.7923	0.96464	0.0:1.0:0.0:0.0	.	339	A0PJZ3	GXLT2_HUMAN	S	339;100	ENSP00000374268:P339S;ENSP00000420426:P100S	ENSP00000374268:P339S	P	+	1	0	GXYLT2	73099426	1.000000	0.71417	0.899000	0.35326	0.897000	0.52465	7.585000	0.82584	2.752000	0.94435	0.557000	0.71058	CCC		0.502	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		4	19	0	0	0	1	0	4	19				
SPTBN4	57731	broad.mit.edu	37	19	41063301	41063301	+	Missense_Mutation	SNP	G	G	A	rs201094636		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41063301G>A	ENST00000352632.3	+	26	5748	c.5662G>A	c.(5662-5664)Gtg>Atg	p.V1888M	SPTBN4_ENST00000392025.1_Missense_Mutation_p.V631M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1888M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1888M|SPTBN4_ENST00000392023.1_Missense_Mutation_p.V564M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1888M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1888					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGCTCCTCGTGTCCCAGGT	0.672																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5662-5664)Gtg>Atg		spectrin, beta, non-erythrocytic 4							34.0	33.0	33.0					19																	41063301		2158	4227	6385	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063301G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5662G>A	19.37:g.41063301G>A	ENSP00000263373:p.Val1888Met					SPTBN4_ENST00000392023.1_Missense_Mutation_p.V564M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1888M|SPTBN4_ENST00000392025.1_Missense_Mutation_p.V631M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1888M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1888M	p.V1888M			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5748	+			1888					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5662G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836583	0.71373	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.13	4.13	0.48395	.	0.000000	0.56097	D	0.000032	T	0.63295	0.2499	L	0.54323	1.7	0.43953	D	0.996621	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.85130	0.982;0.887;0.997;0.98	T	0.65063	-0.6259	10	0.49607	T	0.09	.	15.3062	0.73992	0.0:0.0:1.0:0.0	.	631;564;1888;1888	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	M	1888;1888;1888;631;564	ENSP00000263373:V1888M;ENSP00000340345:V1888M;ENSP00000375879:V631M;ENSP00000375877:V564M	ENSP00000340345:V1888M	V	+	1	0	SPTBN4	45755141	0.988000	0.35896	1.000000	0.80357	0.900000	0.52787	6.402000	0.73260	2.147000	0.66899	0.305000	0.20034	GTG		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			20	109	0	0	0	1	0	20	109				
TRIO	7204	broad.mit.edu	37	5	14368980	14368980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:14368980C>T	ENST00000344204.4	+	17	3062	c.3038C>T	c.(3037-3039)tCt>tTt	p.S1013F	TRIO_ENST00000537187.1_Missense_Mutation_p.S1013F|TRIO_ENST00000509967.2_Missense_Mutation_p.S964F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1013					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCAACGCCTCTGTCGCTTTC	0.502																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3037-3039)tCt>tTt		trio Rho guanine nucleotide exchange factor							143.0	129.0	133.0					5																	14368980		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14368980C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3038C>T	5.37:g.14368980C>T	ENSP00000339299:p.Ser1013Phe					TRIO_ENST00000537187.1_Missense_Mutation_p.S1013F|TRIO_ENST00000509967.2_Missense_Mutation_p.S964F	p.S1013F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			17	3062	+	Lung NSC(4;0.000742)		1013					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3038C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842033	0.71488	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.69306	-0.39;-0.39;0.24	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.991	T	0.81150	-0.1064	10	0.52906	T	0.07	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	964;1013;1013	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	F	1013;1013;964;700	ENSP00000339299:S1013F;ENSP00000446348:S1013F;ENSP00000445592:S964F	ENSP00000339299:S1013F	S	+	2	0	TRIO	14421980	1.000000	0.71417	0.166000	0.22797	0.753000	0.42808	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	TCT		0.502	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		28	48	0	0	0	1	0	28	48				
MAD2L1BP	9587	broad.mit.edu	37	6	43604139	43604139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:43604139C>T	ENST00000372171.4	+	2	125	c.68C>T	c.(67-69)tCc>tTc	p.S23F	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000451025.2_Missense_Mutation_p.S55F	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	23					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TATGAGAAGTCCGAAGAAACT	0.473																																						ENST00000451025.2																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(163-165)tCc>tTc		MAD2L1 binding protein							80.0	79.0	79.0					6																	43604139		2203	4300	6503	SO:0001583	missense	9587				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	g.chr6:43604139C>T	BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.68C>T	6.37:g.43604139C>T	ENSP00000361244:p.Ser23Phe					MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.S23F	p.S55F	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		3	374	+	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		23			Interaction with MAD2L1.		B4DLV3|E9PAT7|Q6IBB1	Missense_Mutation	SNP	ENST00000372171.4	37	c.164C>T	CCDS4904.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444592	0.83993	.	.	ENSG00000124688	ENST00000451025;ENST00000372171	T	0.18016	2.24	5.26	5.26	0.73747	.	0.664334	0.14114	N	0.340534	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	0.999999	P;D	0.55385	0.857;0.971	P;P	0.55455	0.606;0.776	T	0.10382	-1.0632	10	0.59425	D	0.04	-4.2471	14.2382	0.65941	0.0:1.0:0.0:0.0	.	23;55	Q15013;E9PAT7	MD2BP_HUMAN;.	F	55;23	ENSP00000410818:S55F	ENSP00000361244:S23F	S	+	2	0	MAD2L1BP	43712117	0.509000	0.26163	0.233000	0.24025	0.243000	0.25628	1.256000	0.32921	2.750000	0.94351	0.561000	0.74099	TCC		0.473	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2	NM_014628		16	35	0	0	0	1	0	16	35				
VPS36	51028	broad.mit.edu	37	13	53010427	53010427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:53010427C>G	ENST00000378060.4	-	4	376	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	117	GLUE C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AAACTTACCTCAATCTGGCCA	0.428																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(349-351)Gag>Cag		vacuolar protein sorting 36 homolog (S. cerevisiae)							100.0	89.0	93.0					13																	53010427		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53010427C>G	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.349G>C	13.37:g.53010427C>G	ENSP00000367299:p.Glu117Gln					VPS36_ENST00000480923.1_5'UTR	p.E117Q	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	4	376	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	117			GLUE C-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.349G>C	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.225459	0.79576	.	.	ENSG00000136100	ENST00000378060	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.73962	2.25	0.80722	D	1	P	0.37573	0.6	B	0.26693	0.072	T	0.59862	-0.7374	9	0.16896	T	0.51	-0.4686	19.6475	0.95784	0.0:1.0:0.0:0.0	.	117	Q86VN1	VPS36_HUMAN	Q	117	.	ENSP00000367299:E117Q	E	-	1	0	VPS36	51908428	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAG		0.428	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			5	9	0	0	0	1	0	5	9				
TSHZ3	57616	broad.mit.edu	37	19	31768688	31768688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:31768688G>A	ENST00000240587.4	-	2	2338	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	671					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGGGCTGGGGCTGTTCTCC	0.662																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2011-2013)Ccc>Tcc		teashirt zinc finger homeobox 3							21.0	23.0	23.0					19																	31768688		2197	4292	6489	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768688G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2011C>T	19.37:g.31768688G>A	ENSP00000240587:p.Pro671Ser						p.P671S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2338	-	Esophageal squamous(110;0.226)		671					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2011C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361428	0.24684	.	.	ENSG00000121297	ENST00000240587	T	0.43294	0.95	5.5	5.5	0.81552	.	0.549919	0.20035	N	0.100624	T	0.37128	0.0992	L	0.44542	1.39	0.43242	D	0.995156	B	0.33694	0.421	B	0.25140	0.058	T	0.14699	-1.0463	10	0.34782	T	0.22	-28.6119	19.392	0.94587	0.0:0.0:1.0:0.0	.	671	Q63HK5	TSH3_HUMAN	S	671	ENSP00000240587:P671S	ENSP00000240587:P671S	P	-	1	0	TSHZ3	36460528	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	2.871000	0.48459	2.567000	0.86603	0.650000	0.86243	CCC		0.662	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		12	65	0	0	0	1	0	12	65				
PSG8	440533	broad.mit.edu	37	19	43259296	43259296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:43259296G>C	ENST00000306511.4	-	4	929	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	PSG8_ENST00000404209.4_Missense_Mutation_p.Q278E|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.Q156E|PSG8_ENST00000401467.2_Missense_Mutation_p.Q185E	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	278	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.Q278*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGAGGCTCTGACCATTTAGC	0.458																																						ENST00000404209.4																			1	Substitution - Nonsense(1)	p.Q278*(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(832-834)Cag>Gag		pregnancy specific beta-1-glycoprotein 8							72.0	78.0	76.0					19																	43259296		2202	4280	6482	SO:0001583	missense	440533					extracellular region		g.chr19:43259296G>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.832C>G	19.37:g.43259296G>C	ENSP00000305005:p.Gln278Glu					PSG8_ENST00000406636.3_Missense_Mutation_p.Q156E|PSG8_ENST00000306511.4_Missense_Mutation_p.Q278E|PSG8_ENST00000401467.2_Missense_Mutation_p.Q185E|PSG8_ENST00000600709.1_Intron	p.Q278E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	928	-		Prostate(69;0.00899)	278			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.832C>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.888060	0.00527	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	0.704	0.704	0.18121	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13030	0.0316	M	0.64170	1.965	0.09310	N	1	B;B;B;B;B;B	0.15930	0.002;0.015;0.001;0.013;0.0;0.0	B;B;B;B;B;B	0.32724	0.012;0.151;0.012;0.095;0.004;0.007	T	0.40590	-0.9555	8	0.20046	T	0.44	.	.	.	.	.	156;185;278;185;278;278	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	E	278;156;185;90;185;278	ENSP00000385869:Q278E;ENSP00000385081:Q156E;ENSP00000386090:Q185E;ENSP00000305005:Q278E	ENSP00000305005:Q278E	Q	-	1	0	PSG8	47951136	0.000000	0.05858	0.151000	0.22473	0.056000	0.15407	0.028000	0.13644	0.653000	0.30826	0.298000	0.19748	CAG		0.458	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			31	321	0	0	0	1	0	31	321				
ABCG8	64241	broad.mit.edu	37	2	44079860	44079860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:44079860C>T	ENST00000272286.2	+	6	907	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCACCAGCCTCGCTCTGACAT	0.592																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(817-819)Cgc>Tgc		ATP-binding cassette, sub-family G (WHITE), member 8							81.0	72.0	75.0					2																	44079860		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079860C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.817C>T	2.37:g.44079860C>T	ENSP00000272286:p.Arg273Cys						p.R273C	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			6	907	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	273			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.817C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290095	0.59976	.	.	ENSG00000143921	ENST00000272286	T	0.43688	0.94	5.2	4.32	0.51571	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67268	-0.5713	10	0.72032	D	0.01	.	14.115	0.65146	0.0:0.9271:0.0:0.0729	.	273;273	Q9H221-2;Q9H221	.;ABCG8_HUMAN	C	273	ENSP00000272286:R273C	ENSP00000272286:R273C	R	+	1	0	ABCG8	43933364	0.969000	0.33509	0.053000	0.19242	0.557000	0.35523	2.351000	0.44071	1.180000	0.42898	0.561000	0.74099	CGC		0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		17	76	0	0	0	1	0	17	76				
PCNXL3	399909	broad.mit.edu	37	11	65383851	65383851	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:65383851C>T	ENST00000355703.3	+	1	608	c.69C>T	c.(67-69)ttC>ttT	p.F23F	MAP3K11_ENST00000309100.3_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	23						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTTGGTTCTTCGACCCGCACC	0.647																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(67-69)ttC>ttT		pecanex-like 3 (Drosophila)							18.0	26.0	23.0					11																	65383851		2079	4198	6277	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65383851C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.69C>T	11.37:g.65383851C>T							p.F23F	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			1	608	+			23					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.69C>T	CCDS44650.1																																																																																				0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		14	36	0	0	0	1	0	14	36				
NCOR1	9611	broad.mit.edu	37	17	16012157	16012157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:16012157G>A	ENST00000268712.3	-	19	2382	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.Q600*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q709*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	709					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q709*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATCCTCCTGAGCAGAAACA	0.388																																						ENST00000268712.3																			1	Substitution - Nonsense(1)	p.Q709*(1)	upper_aerodigestive_tract(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2125-2127)Cag>Tag		nuclear receptor corepressor 1							117.0	110.0	113.0					17																	16012157		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16012157G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2125C>T	17.37:g.16012157G>A	ENSP00000268712:p.Gln709*					NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.Q600*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q709*	p.Q709*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	19	2382	-			709					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.2125C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.626570	0.97718	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.31	5.31	0.75309	.	0.104145	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.7233	17.9623	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	X	709;709;600;600	.	ENSP00000268712:Q709X	Q	-	1	0	NCOR1	15952882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.824000	0.69279	2.489000	0.83994	0.591000	0.81541	CAG		0.388	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		31	61	0	0	0	1	0	31	61				
DNASE2	1777	broad.mit.edu	37	19	12985309	12985309	+	IGR	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12985309G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Silent_p.K1446K	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCGGGGCTAAGGCTGTGGTGC	0.736																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(4336-4338)aaG>aaA		microtubule associated serine/threonine kinase 1							11.0	15.0	14.0					19																	12985309		2154	4218	6372	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12985309G>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985309G>A							p.K1446K	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	4377	+			1446					B2RD06|B7Z4K6|O43910	Silent	SNP	ENST00000222219.3	37	c.4338G>A	CCDS12284.1																																																																																				0.736	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			7	33	0	0	0	1	0	7	33				
SPTAN1	6709	broad.mit.edu	37	9	131339527	131339527	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:131339527G>A	ENST00000372731.4	+	7	1015	c.905G>A	c.(904-906)aGa>aAa	p.R302K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R302K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R302K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	302					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTCTGGAGAGAGATCTTGCT	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(904-906)aGa>aAa		spectrin, alpha, non-erythrocytic 1							119.0	119.0	119.0					9																	131339527		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339527G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.905G>A	9.37:g.131339527G>A	ENSP00000361816:p.Arg302Lys					SPTAN1_ENST00000358161.5_Missense_Mutation_p.R302K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R302K	p.R302K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			7	1015	+			302					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.905G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909256	0.92107	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.46451	0.87;0.87;0.87	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.66939	2.045	0.80722	D	1	D;P;D;B;D	0.89917	0.985;0.92;0.998;0.3;1.0	D;D;D;P;D	0.91635	0.909;0.946;0.997;0.472;0.999	T	0.59716	-0.7402	10	0.42905	T	0.14	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	302;302;302;302;302	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	302	ENSP00000350882:R302K;ENSP00000361816:R302K;ENSP00000361824:R302K	ENSP00000350882:R302K	R	+	2	0	SPTAN1	130379348	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	AGA		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	129	0	0	0	1	0	5	129				
PCDHAC1	56135	broad.mit.edu	37	5	140306685	140306685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140306685C>G	ENST00000253807.2	+	1	208	c.208C>G	c.(208-210)Cta>Gta	p.L70V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L70V|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	70	Cadherin 1. {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(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGTGGATCTACCCAGCGG	0.627																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(208-210)Cta>Gta									45.0	49.0	48.0					5																	140306685		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140306685C>G	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.208C>G	5.37:g.140306685C>G	ENSP00000253807:p.Leu70Val					PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L70V|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.L70V	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	208	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.208C>G	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	5.798	0.331578	0.10956	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38077	1.16;1.16	5.29	3.43	0.39272	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27134	0.0665	L	0.41236	1.265	0.09310	N	1	B;B	0.31459	0.324;0.006	B;B	0.28553	0.091;0.015	T	0.13308	-1.0514	9	0.27082	T	0.32	.	8.9314	0.35672	0.2326:0.4153:0.352:0.0	.	70;70	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	70	ENSP00000386356:L70V;ENSP00000253807:L70V	ENSP00000253807:L70V	L	+	1	2	PCDHAC1	140286869	0.000000	0.05858	0.535000	0.28026	0.063000	0.16089	-0.147000	0.10234	0.530000	0.28619	0.561000	0.74099	CTA		0.627	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		15	40	0	0	0	1	0	15	40				
KIF4B	285643	broad.mit.edu	37	5	154396443	154396443	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396443T>G	ENST00000435029.4	+	1	3184	c.3024T>G	c.(3022-3024)aaT>aaG	p.N1008K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1008	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTTCCTAATGATACCCTTC	0.423																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3022-3024)aaT>aaG		kinesin family member 4B							162.0	164.0	163.0					5																	154396443		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396443T>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3024T>G	5.37:g.154396443T>G	ENSP00000387875:p.Asn1008Lys						p.N1008K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3184	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1008			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3024T>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.708881	0.00712	.	.	ENSG00000226650	ENST00000435029	T	0.65364	-0.15	1.76	-0.288	0.12855	.	.	.	.	.	T	0.28962	0.0719	N	0.08118	0	0.20074	N	0.999932	B	0.02656	0.0	B	0.01281	0.0	T	0.19418	-1.0306	9	0.06365	T	0.9	.	0.7297	0.00955	0.1677:0.2287:0.3589:0.2447	.	1008	Q2VIQ3	KIF4B_HUMAN	K	1008	ENSP00000387875:N1008K	ENSP00000387875:N1008K	N	+	3	2	KIF4B	154376636	0.000000	0.05858	0.989000	0.46669	0.989000	0.77384	-1.461000	0.02366	-0.086000	0.12550	-0.294000	0.09567	AAT		0.423	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			31	152	0	0	0	1	0	31	152				
ANKS3	124401	broad.mit.edu	37	16	4750786	4750786	+	Intron	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4750786C>T	ENST00000304283.4	-	11	1579				ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000450067.2_Missense_Mutation_p.R284H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGAGTAGAAGCGCTGCAGCGG	0.607																																						ENST00000450067.2																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(850-852)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 3																																				SO:0001627	intron_variant	124401							g.chr16:4750786C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+184G>A	16.37:g.4750786C>T						ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron|ANKS3_ENST00000585773.1_Intron	p.R284H			Q6ZW76	ANKS3_HUMAN			7	1161	-			0					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.851G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	8.196	0.797091	0.16327	.	.	ENSG00000168096	ENST00000450067	T	0.52983	0.64	2.13	-1.32	0.09201	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.08055	0.003	T	0.26087	-1.0113	8	0.87932	D	0	.	4.4839	0.11780	0.0:0.3948:0.4536:0.1516	.	284	Q6ZWA7	.	H	284	ENSP00000388270:R284H	ENSP00000388270:R284H	R	-	2	0	ANKS3	4690787	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.466000	0.06672	-0.273000	0.09246	-0.448000	0.05591	CGC		0.607	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		8	31	0	0	0	1	0	8	31				
GINS4	84296	broad.mit.edu	37	8	41394782	41394782	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:41394782C>A	ENST00000276533.3	+	4	477	c.267C>A	c.(265-267)ctC>ctA	p.L89L	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000523277.2_Silent_p.L89L|GINS4_ENST00000518671.1_Silent_p.L89L|GINS4_ENST00000520710.1_Silent_p.L89L	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	89					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GCTACGTCCTCAGCAGCTACT	0.493																																						ENST00000523277.2																			0				breast(1)|lung(2)|skin(1)	4						c.(265-267)ctC>ctA		GINS complex subunit 4 (Sld5 homolog)							123.0	100.0	108.0					8																	41394782		2203	4300	6503	SO:0001819	synonymous_variant	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41394782C>A	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.267C>A	8.37:g.41394782C>A						RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000520710.1_Silent_p.L89L|GINS4_ENST00000276533.3_Silent_p.L89L|GINS4_ENST00000518671.1_Silent_p.L89L	p.L89L			Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		4	434	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	89					B2R8H5|D3DSY0|Q8N648	Silent	SNP	ENST00000276533.3	37	c.267C>A	CCDS6116.1																																																																																				0.493	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		15	10	1	0	1.37285e-15	1	1.48268e-15	15	10				
RIMS2	9699	broad.mit.edu	37	8	105001624	105001624	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:105001624G>C	ENST00000436393.2	+	15	2594	c.2353G>C	c.(2353-2355)Gac>Cac	p.D785H	RIMS2_ENST00000406091.3_Missense_Mutation_p.D1007H|RIMS2_ENST00000507740.1_Missense_Mutation_p.D799H|RIMS2_ENST00000262231.10_Missense_Mutation_p.D846H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1069					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCATGGATGACCATTATTC	0.383										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2395-2397)Gac>Cac		regulating synaptic membrane exocytosis 2							108.0	104.0	105.0					8																	105001624		1855	4090	5945	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001624G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2353G>C	8.37:g.105001624G>C	ENSP00000390665:p.Asp785His	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.D785H|RIMS2_ENST00000262231.10_Missense_Mutation_p.D846H|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1007H	p.D799H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2631	+			1069					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2395G>C		.	.	.	.	.	.	.	.	.	.	G	14.23	2.472932	0.43942	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.68;2.4;2.39;2.3;2.64	5.54	5.54	0.83059	.	.	.	.	.	T	0.22244	0.0536	L	0.29908	0.895	0.80722	D	1	P;P;P;D;P	0.54601	0.935;0.954;0.941;0.967;0.928	P;P;P;P;P	0.53912	0.737;0.472;0.735;0.661;0.662	T	0.00395	-1.1766	9	0.54805	T	0.06	.	12.4461	0.55651	0.0777:0.0:0.9223:0.0	.	1069;785;846;799;1007	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	1007;1022;1007;1069;846;799;799;785	ENSP00000427018:D1007H;ENSP00000384892:D1007H;ENSP00000262231:D846H;ENSP00000423559:D799H;ENSP00000386228:D799H;ENSP00000390665:D785H	ENSP00000262231:D846H	D	+	1	0	RIMS2	105070800	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.020000	0.64066	2.617000	0.88574	0.484000	0.47621	GAC		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		35	105	0	0	0	1	0	35	105				
LRP4	4038	broad.mit.edu	37	11	46894661	46894661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:46894661C>T	ENST00000378623.1	-	30	4815	c.4573G>A	c.(4573-4575)Gat>Aat	p.D1525N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1525					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1525H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCGGGTATCATAGTCCAGG	0.502																																						ENST00000378623.1																			1	Substitution - Missense(1)	p.D1525H(1)	kidney(1)	breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4573-4575)Gat>Aat		low density lipoprotein receptor-related protein 4							116.0	112.0	113.0					11																	46894661		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46894661C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4573G>A	11.37:g.46894661C>T	ENSP00000367888:p.Asp1525Asn					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.D1525N	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	30	4815	-			1525					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4573G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039982	0.75732	.	.	ENSG00000134569	ENST00000378623	D	0.93488	-3.23	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	N	0.16201	0.385	0.80722	D	1	P	0.43633	0.813	B	0.42188	0.379	D	0.86798	0.1990	10	0.21014	T	0.42	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	1525	O75096	LRP4_HUMAN	N	1525	ENSP00000367888:D1525N	ENSP00000367888:D1525N	D	-	1	0	LRP4	46851237	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.016000	0.70798	2.724000	0.93272	0.561000	0.74099	GAT		0.502	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		37	85	0	0	0	1	0	37	85				
KRT19	3880	broad.mit.edu	37	17	39684170	39684170	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:39684170C>T	ENST00000361566.3	-	1	390	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	110	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCGGATCTTCACCTCTAGCT	0.652																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(328-330)gtG>gtA		keratin 19							45.0	52.0	49.0					17																	39684170		2203	4299	6502	SO:0001819	synonymous_variant	3880							g.chr17:39684170C>T		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.330G>A	17.37:g.39684170C>T							p.V110V	NM_002276.4	NP_002267.2					1	390	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.330G>A	CCDS11399.1																																																																																				0.652	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		38	118	0	0	0	1	0	38	118				
FAM19A2	338811	broad.mit.edu	37	12	62261181	62261181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:62261181G>A	ENST00000416284.3	-	2	1610	c.26C>T	c.(25-27)gCa>gTa	p.A9V	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A9V|FAM19A2_ENST00000551449.1_Missense_Mutation_p.A9V	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	9						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCCTTTTGTTGCTTTCTGTAA	0.299																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(25-27)gCa>gTa		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							100.0	102.0	102.0					12																	62261181		2203	4297	6500	SO:0001583	missense	338811					cytoplasm		g.chr12:62261181G>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.26C>T	12.37:g.62261181G>A	ENSP00000393987:p.Ala9Val					FAM19A2_ENST00000551449.1_Missense_Mutation_p.A9V|FAM19A2_ENST00000551619.1_Missense_Mutation_p.A9V	p.A9V	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	2	1610	-			9					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.26C>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561044	0.45590	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000551449;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	6.08	6.08	0.98989	.	0.150694	0.45867	D	0.000330	T	0.40570	0.1122	N	0.08118	0	0.35951	D	0.833902	B	0.02656	0.0	B	0.04013	0.001	T	0.38499	-0.9658	8	.	.	.	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	9	Q8N3H0	F19A2_HUMAN	V	9;9;9;10;16;10	.	.	A	-	2	0	FAM19A2	60547448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.392000	0.66272	2.894000	0.99253	0.655000	0.94253	GCA		0.299	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		12	32	0	0	0	1	0	12	32				
GAL3ST1	9514	broad.mit.edu	37	22	30951422	30951422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:30951422C>A	ENST00000402321.1	-	3	1107	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D264Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	264					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCAGGTCCTTCAGCAGC	0.662																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(790-792)Gac>Tac		galactose-3-O-sulfotransferase 1							74.0	75.0	75.0					22																	30951422		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951422C>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.790G>T	22.37:g.30951422C>A	ENSP00000385735:p.Asp264Tyr					GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D264Y	p.D264Y			Q99999	G3ST1_HUMAN			3	1107	-			264					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.790G>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532990	0.85812	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313	T;T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.37	5.37	0.77165	.	0.354964	0.35207	N	0.003367	T	0.46560	0.1399	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.49428	-0.8941	10	0.72032	D	0.01	-28.0766	18.6705	0.91508	0.0:1.0:0.0:0.0	.	264	Q99999	G3ST1_HUMAN	Y	264;264;264;264;264;264;264;264;265	ENSP00000385825:D264Y;ENSP00000385735:D264Y;ENSP00000384122:D264Y;ENSP00000384388:D264Y;ENSP00000343234:D264Y;ENSP00000385207:D264Y;ENSP00000402587:D264Y;ENSP00000390545:D264Y;ENSP00000395080:D265Y	ENSP00000343234:D264Y	D	-	1	0	GAL3ST1	29281422	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.009000	0.57110	2.523000	0.85059	0.561000	0.74099	GAC		0.662	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		35	146	1	0	2.42023e-17	1	2.63493e-17	35	146				
HNRNPM	4670	broad.mit.edu	37	19	8550805	8550805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8550805C>T	ENST00000325495.4	+	14	1534	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A459V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	498	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCGCATGGCCGCTCCCATC	0.677																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1375-1377)gCc>gTc		heterogeneous nuclear ribonucleoprotein M							42.0	43.0	43.0					19																	8550805		2203	4294	6497	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550805C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1493C>T	19.37:g.8550805C>T	ENSP00000325376:p.Ala498Val					HNRNPM_ENST00000325495.4_Missense_Mutation_p.A498V	p.A459V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1608	+			498			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1376C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827214	0.32329	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.13089	2.62;2.88	5.22	4.18	0.49190	.	0.054085	0.64402	D	0.000001	T	0.11067	0.0270	L	0.38175	1.15	0.31501	N	0.664797	B;B;B;B	0.17268	0.012;0.002;0.021;0.007	B;B;B;B	0.16289	0.009;0.002;0.015;0.006	T	0.04537	-1.0944	10	0.56958	D	0.05	.	7.9166	0.29822	0.0:0.6483:0.2654:0.0863	.	338;498;459;383	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	498;459;383;55	ENSP00000325376:A498V;ENSP00000325732:A459V	ENSP00000325376:A498V	A	+	2	0	HNRNPM	8456805	0.976000	0.34144	0.998000	0.56505	0.992000	0.81027	1.671000	0.37513	1.191000	0.43056	0.491000	0.48974	GCC		0.677	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	141	0	0	0	1	0	4	141				
ABCA3	21	broad.mit.edu	37	16	2345606	2345606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2345606C>T	ENST00000301732.5	-	18	3099	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTGCTCTCTCTGGGAAGGAT	0.627																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2398-2400)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 3							148.0	150.0	149.0					16																	2345606		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2345606C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2399G>A	16.37:g.2345606C>T	ENSP00000301732:p.Arg800Lys					ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	p.R800K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			18	3099	-		Ovarian(90;0.17)	800					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2399G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	0.856	-0.736875	0.03111	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79940	-1.32	5.65	4.56	0.56223	.	0.099206	0.64402	N	0.000002	T	0.44456	0.1294	N	0.00395	-1.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.52616	-0.8552	10	0.02654	T	1	.	10.0058	0.41957	0.0:0.0806:0.0:0.9194	.	800;804;800	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	K	800;804	ENSP00000301732:R800K	ENSP00000301732:R800K	R	-	2	0	ABCA3	2285607	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	2.496000	0.45346	1.164000	0.42652	-0.302000	0.09304	AGA		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		79	246	0	0	0	1	0	79	246				
PPM1G	5496	broad.mit.edu	37	2	27605047	27605047	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:27605047G>A	ENST00000344034.4	-	9	1644	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	ZNF513_ENST00000407879.1_5'Flank|PPM1G_ENST00000350803.4_Silent_p.I460I|ZNF513_ENST00000323703.6_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	460					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACGCTGGCTGATCTTTGATT	0.488																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1378-1380)atC>atT		protein phosphatase, Mg2+/Mn2+ dependent, 1G							134.0	119.0	124.0					2																	27605047		2203	4300	6503	SO:0001819	synonymous_variant	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27605047G>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1380C>T	2.37:g.27605047G>A						PPM1G_ENST00000350803.4_Silent_p.I460I	p.I460I	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			9	1644	-	Acute lymphoblastic leukemia(172;0.155)		460						Silent	SNP	ENST00000344034.4	37	c.1380C>T	CCDS1752.1																																																																																				0.488	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		25	73	0	0	0	1	0	25	73				
FAM179B	23116	broad.mit.edu	37	14	45433339	45433339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:45433339G>C	ENST00000361577.3	+	1	1929	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	KLHL28_ENST00000553817.1_Intron|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.R572T|FAM179B_ENST00000382233.2_Missense_Mutation_p.R572T	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	572										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGCAGGCCAGATTGGCTAGG	0.468																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1714-1716)aGa>aCa		family with sequence similarity 179, member B							114.0	120.0	118.0					14																	45433339		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433339G>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1715G>C	14.37:g.45433339G>C	ENSP00000355045:p.Arg572Thr					FAM179B_ENST00000382233.2_Missense_Mutation_p.R572T|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.R572T	p.R572T			Q9Y4F4	F179B_HUMAN			1	1898	+			572					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1715G>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808288	0.70797	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04156	3.69;3.69;3.69	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.23611	0.0571	M	0.80332	2.49	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;1.0	T	0.02009	-1.1230	10	0.72032	D	0.01	-12.1681	16.9161	0.86152	0.0:0.0:1.0:0.0	.	572;572;572;572	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	572	ENSP00000355045:R572T;ENSP00000354917:R572T;ENSP00000371668:R572T	ENSP00000354917:R572T	R	+	2	0	FAM179B	44503089	1.000000	0.71417	0.771000	0.31576	0.986000	0.74619	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	AGA		0.468	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		18	144	0	0	0	1	0	18	144				
B4GALNT4	338707	broad.mit.edu	37	11	376088	376088	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:376088C>T	ENST00000329962.6	+	12	1110	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	370					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGTCCTTCGTTTATCCCA	0.682																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1108-1110)ttC>ttT		beta-1,4-N-acetyl-galactosaminyl transferase 4							28.0	28.0	28.0					11																	376088		2197	4289	6486	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376088C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1110C>T	11.37:g.376088C>T							p.F370F	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1110	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	370					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.1110C>T	CCDS7694.1																																																																																				0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		7	40	0	0	0	1	0	7	40				
NKTR	4820	broad.mit.edu	37	3	42679134	42679134	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:42679134C>T	ENST00000232978.8	+	13	2126	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	646					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGCTACCCATCCAAAGCACTT	0.413																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1936-1938)atC>atT		natural killer-tumor recognition sequence							86.0	96.0	92.0					3																	42679134		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679134C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1938C>T	3.37:g.42679134C>T						RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I646I	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2126	+			646						Silent	SNP	ENST00000232978.8	37	c.1938C>T	CCDS2702.1																																																																																				0.413	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		32	82	0	0	0	1	0	32	82				
DDX23	9416	broad.mit.edu	37	12	49225034	49225034	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CCCCAGCCTTGAGGTTGGACA	0.483																																						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.(2128-2130)ctC>ctG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							179.0	159.0	166.0					12																	49225034		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49225034G>C	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.2130C>G	12.37:g.49225034G>C							p.L710L	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			16	2209	-			710			Helicase C-terminal.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.2130C>G	CCDS8770.1																																																																																				0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		48	133	0	0	0	1	0	48	133				
NEUROD1	4760	broad.mit.edu	37	2	182543167	182543167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:182543167C>G	ENST00000295108.3	-	2	878	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	141	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGCAGAGTCTCGATTTTGGAC	0.582																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(421-423)Gag>Cag		neuronal differentiation 1							77.0	74.0	75.0					2																	182543167		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543167C>G	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.421G>C	2.37:g.182543167C>G	ENSP00000295108:p.Glu141Gln					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.E141Q	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	878	-			141			Helix-loop-helix motif.		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.421G>C	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867563	0.72065	.	.	ENSG00000162992	ENST00000295108	D	0.98075	-4.7	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99466	1.0944	10	0.87932	D	0	-8.0799	19.4236	0.94732	0.0:1.0:0.0:0.0	.	141	Q13562	NDF1_HUMAN	Q	141	ENSP00000295108:E141Q	ENSP00000295108:E141Q	E	-	1	0	NEUROD1	182251412	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAG		0.582	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		15	101	0	0	0	1	0	15	101				
PCNX	22990	broad.mit.edu	37	14	71455407	71455407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:71455407C>T	ENST00000304743.2	+	7	2881	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.S812L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	812						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCATCGGATCACCCCTAAGG	0.502																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2434-2436)tCa>tTa		pecanex homolog (Drosophila)							179.0	158.0	165.0					14																	71455407		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455407C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2435C>T	14.37:g.71455407C>T	ENSP00000304192:p.Ser812Leu					PCNX_ENST00000238570.5_Missense_Mutation_p.S812L|PCNX_ENST00000439984.3_Intron	p.S812L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2881	+			812					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2435C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277330	0.80580	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.30714	1.52;1.52	5.01	5.01	0.66863	.	0.120809	0.64402	D	0.000016	T	0.46092	0.1375	L	0.58101	1.795	0.80722	D	1	B;P	0.49783	0.321;0.928	B;P	0.52957	0.086;0.714	T	0.39251	-0.9623	10	0.56958	D	0.05	.	18.8684	0.92303	0.0:1.0:0.0:0.0	.	812;812	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	L	812	ENSP00000304192:S812L;ENSP00000238570:S812L	ENSP00000238570:S812L	S	+	2	0	PCNX	70525160	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.275000	0.78548	2.767000	0.95098	0.591000	0.81541	TCA		0.502	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		24	237	0	0	0	1	0	24	237				
ATL3	25923	broad.mit.edu	37	11	63420016	63420016	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63420016G>A	ENST00000398868.3	-	4	713	c.437C>T	c.(436-438)gCa>gTa	p.A146V	ATL3_ENST00000332645.4_Missense_Mutation_p.A173V|ATL3_ENST00000538786.1_Missense_Mutation_p.A128V|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	146	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GCTGTCAAATGCCCCCTGGGT	0.388																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(436-438)gCa>gTa		atlastin GTPase 3							90.0	84.0	86.0					11																	63420016		1874	4125	5999	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63420016G>A		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.437C>T	11.37:g.63420016G>A	ENSP00000381844:p.Ala146Val					RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.A128V|ATL3_ENST00000332645.4_Missense_Mutation_p.A173V	p.A146V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			4	713	-			146					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.437C>T	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806686	0.90623	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.60548	0.18;0.18;0.18	5.14	5.14	0.70334	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.52011	1.625	0.80722	D	1	B	0.32188	0.359	B	0.42692	0.395	T	0.63453	-0.6634	10	0.52906	T	0.07	-12.7493	16.4594	0.84031	0.0:0.0:1.0:0.0	.	146	Q6DD88	ATLA3_HUMAN	V	146;173;128	ENSP00000381844:A146V;ENSP00000329034:A173V;ENSP00000437593:A128V	ENSP00000329034:A173V	A	-	2	0	ATL3	63176592	1.000000	0.71417	0.954000	0.39281	0.977000	0.68977	9.368000	0.97152	2.531000	0.85337	0.655000	0.94253	GCA		0.388	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		39	42	0	0	0	1	0	39	42				
ADCY6	112	broad.mit.edu	37	12	49170117	49170117	+	Missense_Mutation	SNP	G	G	A	rs201227124		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49170117G>A	ENST00000307885.4	-	7	2246	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ADCY6_ENST00000357869.3_Missense_Mutation_p.R518W|ADCY6_ENST00000550422.1_Missense_Mutation_p.R518W|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	518					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTGTTGCCCGAGTGATGTGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		13570	0.0		0.0	False		,,,				2504	0.001					ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1552-1554)Cgg>Tgg		adenylate cyclase 6		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	120.0	95.0	103.0		1552,1552	3.0	1.0	12		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADCY6	NM_015270.3,NM_020983.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	518/1169,518/1116	49170117	1,13005	2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170117G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1552C>T	12.37:g.49170117G>A	ENSP00000311405:p.Arg518Trp					ADCY6_ENST00000550422.1_Missense_Mutation_p.R518W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R518W|ADCY6_ENST00000552090.1_5'UTR	p.R518W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			7	2246	-			518					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1552C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046587	0.55110	0.0	1.16E-4	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.85013	-1.93;-1.93;-1.93	4.0	3.02	0.34903	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.158215	0.41396	N	0.000899	D	0.89125	0.6626	M	0.73319	2.225	0.39049	D	0.960284	D;D	0.76494	0.997;0.999	P;P	0.61658	0.827;0.892	D	0.90361	0.4373	10	0.87932	D	0	.	10.7138	0.46000	0.0:0.0:0.7148:0.2852	.	518;518	O43306-2;O43306	.;ADCY6_HUMAN	W	518	ENSP00000350536:R518W;ENSP00000446730:R518W;ENSP00000311405:R518W	ENSP00000311405:R518W	R	-	1	2	ADCY6	47456384	0.006000	0.16342	1.000000	0.80357	0.654000	0.38779	0.985000	0.29578	2.237000	0.73441	0.313000	0.20887	CGG		0.637	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		21	60	0	0	0	1	0	21	60				
KIF4B	285643	broad.mit.edu	37	5	154396521	154396521	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396521T>C	ENST00000435029.4	+	1	3262	c.3102T>C	c.(3100-3102)ttT>ttC	p.F1034F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1034	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAAAAGTTTCTGGAGCAAA	0.423																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3100-3102)ttT>ttC		kinesin family member 4B							121.0	121.0	121.0					5																	154396521		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396521T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3102T>C	5.37:g.154396521T>C							p.F1034F	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3262	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1034			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3102T>C	CCDS47324.1																																																																																				0.423	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			28	88	0	0	0	1	0	28	88				
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:44286499C>T	ENST00000329255.3	-	4	1244	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1141-1143)Gag>Aag		ALX homeobox 4							57.0	52.0	54.0					11																	44286499		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44286499C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1141G>A	11.37:g.44286499C>T	ENSP00000332744:p.Glu381Lys						p.E381K	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1244	-			381					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1141G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658928	0.88154	.	.	ENSG00000052850	ENST00000329255	D	0.90788	-2.73	5.19	5.19	0.71726	.	0.059235	0.64402	D	0.000002	D	0.87989	0.6317	L	0.46157	1.445	0.45216	D	0.99822	D	0.53885	0.963	P	0.45538	0.484	D	0.85752	0.1344	10	0.23891	T	0.37	.	13.9861	0.64337	0.1515:0.8485:0.0:0.0	.	381	Q9H161	ALX4_HUMAN	K	381	ENSP00000332744:E381K	ENSP00000332744:E381K	E	-	1	0	ALX4	44243075	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.538000	0.67193	2.575000	0.86900	0.561000	0.74099	GAG		0.652	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			21	61	0	0	0	1	0	21	61				
CRYGC	1420	broad.mit.edu	37	2	208994241	208994241	+	Missense_Mutation	SNP	C	C	T	rs149880539		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:208994241C>T	ENST00000282141.3	-	2	213	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	59	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCCCCTCGCCGCAGCAAGTA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.001					ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(175-177)cGg>cAg		crystallin, gamma C		C	GLN/ARG	0,4406		0,0,2203	71.0	76.0	74.0		176	5.0	1.0	2	dbSNP_134	74	4,8596	3.7+/-12.6	0,4,4296	no	missense	CRYGC	NM_020989.3	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	59/175	208994241	4,13002	2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994241C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.176G>A	2.37:g.208994241C>T	ENSP00000282141:p.Arg59Gln						p.R59Q	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	213	-			59			Beta/gamma crystallin 'Greek key' 2.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.176G>A	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520992	0.44866	0.0	4.65E-4	ENSG00000163254	ENST00000282141	T	0.75477	-0.94	4.98	4.98	0.66077	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.131007	0.45361	D	0.000362	T	0.74943	0.3783	M	0.90019	3.08	0.31177	N	0.702487	P	0.42973	0.796	B	0.35240	0.198	T	0.82831	-0.0263	10	0.72032	D	0.01	.	9.7061	0.40216	0.0:0.9047:0.0:0.0953	.	59	P07315	CRGC_HUMAN	Q	59	ENSP00000282141:R59Q	ENSP00000282141:R59Q	R	-	2	0	CRYGC	208702486	0.000000	0.05858	1.000000	0.80357	0.359000	0.29487	-0.042000	0.12063	2.468000	0.83385	0.462000	0.41574	CGG		0.562	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		40	104	0	0	0	1	0	40	104				
GAB2	9846	broad.mit.edu	37	11	77961252	77961252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77961252C>T	ENST00000361507.4	-	3	656	c.571G>A	c.(571-573)Gag>Aag	p.E191K	GAB2_ENST00000340149.2_Missense_Mutation_p.E153K|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	191					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TAGAGATACTCCTGAGGTGCG	0.562																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(571-573)Gag>Aag		GRB2-associated binding protein 2							212.0	197.0	202.0					11																	77961252		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961252C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.571G>A	11.37:g.77961252C>T	ENSP00000354952:p.Glu191Lys					GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.E153K	p.E191K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	656	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		191					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.571G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706740	0.68615	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.15256	2.44;2.69	5.65	5.65	0.86999	.	0.067614	0.56097	U	0.000026	T	0.10165	0.0249	N	0.08118	0	0.58432	D	0.999991	P	0.36282	0.546	B	0.26770	0.073	T	0.17715	-1.0360	10	0.52906	T	0.07	-22.0063	19.9142	0.97043	0.0:1.0:0.0:0.0	.	191	Q9UQC2	GAB2_HUMAN	K	153;191	ENSP00000343959:E153K;ENSP00000354952:E191K	ENSP00000343959:E153K	E	-	1	0	GAB2	77638900	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GAG		0.562	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		141	98	0	0	0	1	0	141	98				
KLHL26	55295	broad.mit.edu	37	19	18779737	18779737	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:18779737C>T	ENST00000300976.4	+	3	1620	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	510										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGCATCTATGCCCTCG	0.682																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1528-1530)atC>atT		kelch-like family member 26							39.0	39.0	39.0					19																	18779737		2203	4297	6500	SO:0001819	synonymous_variant	55295							g.chr19:18779737C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1530C>T	19.37:g.18779737C>T						KLHL26_ENST00000599006.1_Intron	p.I510I	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1620	+			510					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1530C>T	CCDS12384.1																																																																																				0.682	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		29	98	0	0	0	1	0	29	98				
USH2A	7399	broad.mit.edu	37	1	216420042	216420042	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:216420042C>T	ENST00000307340.3	-	13	3080	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	USH2A_ENST00000366942.3_Silent_p.Q898Q|USH2A_ENST00000366943.2_Silent_p.Q898Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	898	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCACACATCTGGCAGTGTT	0.473										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2692-2694)caG>caA		Usher syndrome 2A (autosomal recessive, mild)							215.0	198.0	204.0					1																	216420042		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420042C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2694G>A	1.37:g.216420042C>T		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.Q898Q|USH2A_ENST00000366942.3_Silent_p.Q898Q	p.Q898Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3080	-			898			Laminin EGF-like 7.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.2694G>A	CCDS31025.1																																																																																				0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		29	111	0	0	0	1	0	29	111				
MUC16	94025	broad.mit.edu	37	19	9048002	9048002	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9048002G>A	ENST00000397910.4	-	5	33832	c.33629C>T	c.(33628-33630)tCa>tTa	p.S11210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11212	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGACCAGTGAAGTCACCAG	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33628-33630)tCa>tTa		mucin 16, cell surface associated							58.0	51.0	53.0					19																	9048002		1923	4139	6062	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048002G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33629C>T	19.37:g.9048002G>A	ENSP00000381008:p.Ser11210Leu						p.S11210L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33832	-			11212			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33629C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.337306	0.24253	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.31	3.31	0.37934	.	.	.	.	.	T	0.08980	0.0222	L	0.42245	1.32	.	.	.	D	0.76494	0.999	D	0.75484	0.986	T	0.08659	-1.0711	8	0.87932	D	0	.	10.3869	0.44145	0.0:0.0:1.0:0.0	.	11210	B5ME49	.	L	11210	ENSP00000381008:S11210L	ENSP00000381008:S11210L	S	-	2	0	MUC16	8909002	0.041000	0.20044	0.022000	0.16811	0.110000	0.19582	2.622000	0.46427	2.118000	0.64928	0.486000	0.48141	TCA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	27	0	0	0	1	0	3	27				
RP11-467N20.5	0	broad.mit.edu	37	15	23412207	23412207	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23412207T>C	ENST00000558241.1	-	2	340	c.250A>G	c.(250-252)Ata>Gta	p.I84V																	endometrium(1)	1						CCATTATTTATTTTCTTCTTT	0.527																																						ENST00000558241.1																			0				endometrium(1)	1						c.(250-252)Ata>Gta																																						SO:0001583	missense	0							g.chr15:23412207T>C																												ENST00000558241.1:c.250A>G	15.37:g.23412207T>C	ENSP00000453436:p.Ile84Val						p.I84V							2	340	-									Missense_Mutation	SNP	ENST00000558241.1	37	c.250A>G																																																																																					0.527	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415942.1			11	165	0	0	0	1	0	11	165				
CYP2A7	1549	broad.mit.edu	37	19	41387515	41387515	+	Missense_Mutation	SNP	C	C	G	rs530716589	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41387515C>G	ENST00000301146.4	-	2	863	c.322G>C	c.(322-324)Gac>Cac	p.D108H	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	108				D -> E (in Ref. 2; AAB40520). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAGACCCAGTCGAAGGTGGCT	0.642																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(322-324)Gac>Cac		cytochrome P450, family 2, subfamily A, polypeptide 7							73.0	63.0	66.0					19																	41387515		2203	4300	6503	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387515C>G	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.322G>C	19.37:g.41387515C>G	ENSP00000301146:p.Asp108His					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	p.D108H	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	863	-			108	D -> E (in Ref. 2; AAB40520).				Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.322G>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	6.858	0.527610	0.13127	.	.	ENSG00000198077	ENST00000301146	T	0.69435	-0.4	2.18	-0.439	0.12264	.	0.796800	0.11430	U	0.564895	T	0.66336	0.2779	L	0.45051	1.395	0.09310	N	0.999998	D;D	0.58970	0.982;0.984	P;P	0.57324	0.811;0.818	T	0.55982	-0.8054	10	0.51188	T	0.08	.	6.1808	0.20470	0.0:0.6032:0.0:0.3968	.	108;108	B7ZKR0;P20853	.;CP2A7_HUMAN	H	108	ENSP00000301146:D108H	ENSP00000301146:D108H	D	-	1	0	CYP2A7	46079355	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.143000	0.11334	-1.206000	0.01644	GAC		0.642	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		12	114	0	0	0	1	0	12	114				
CDH7	1005	broad.mit.edu	37	18	63477171	63477171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:63477171G>A	ENST00000397968.2	+	3	868	c.442G>A	c.(442-444)Gac>Aac	p.D148N	CDH7_ENST00000536984.2_Missense_Mutation_p.D148N|CDH7_ENST00000323011.3_Missense_Mutation_p.D148N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	148	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATATCAACGACAATGAACC	0.512																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(442-444)Gac>Aac		cadherin 7, type 2							91.0	90.0	90.0					18																	63477171		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477171G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.442G>A	18.37:g.63477171G>A	ENSP00000381058:p.Asp148Asn					CDH7_ENST00000323011.3_Missense_Mutation_p.D148N|CDH7_ENST00000397968.2_Missense_Mutation_p.D148N	p.D148N			Q9ULB5	CADH7_HUMAN			3	1136	+		Esophageal squamous(42;0.129)	148			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.442G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804406	0.90623	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.75367	-0.93;-0.93;-0.93	5.83	5.83	0.93111	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.180895	0.48767	D	0.000174	D	0.92361	0.7576	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.94676	0.7861	10	0.87932	D	0	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	148;148	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	148	ENSP00000319166:D148N;ENSP00000443030:D148N;ENSP00000381058:D148N	ENSP00000319166:D148N	D	+	1	0	CDH7	61628151	1.000000	0.71417	0.991000	0.47740	0.653000	0.38743	9.382000	0.97209	2.767000	0.95098	0.650000	0.86243	GAC		0.512	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		13	60	0	0	0	1	0	13	60				
TMUB2	79089	broad.mit.edu	37	17	42271732	42271732	+	IGR	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42271732G>C	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000454077.2_Missense_Mutation_p.L322V|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.L315V|ATXN7L3_ENST00000593073.1_5'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCAGGCTCAGATGGGATTTC	0.522																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(943-945)Ctg>Gtg		ataxin 7-like 3							155.0	159.0	158.0					17																	42271732		2024	4186	6210	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42271732G>C		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271732G>C						ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.L322V	p.L315V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	12	1251	-		Breast(137;0.00765)|Prostate(33;0.0181)	315					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.943C>G	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	4.809	0.150422	0.09185	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	5.29	3.33	0.38152	.	0.638973	0.14369	U	0.323923	T	0.33265	0.0857	N	0.24115	0.695	0.38631	D	0.951379	B;B	0.14805	0.006;0.011	B;B	0.12156	0.003;0.007	T	0.27088	-1.0084	9	0.49607	T	0.09	.	2.3577	0.04300	0.1652:0.149:0.532:0.1538	.	315;322	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	V	322;315;97	.	ENSP00000374035:L315V	L	-	1	2	ATXN7L3	39627258	1.000000	0.71417	0.985000	0.45067	0.076000	0.17211	1.822000	0.39052	0.827000	0.34685	0.655000	0.94253	CTG		0.522	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		27	100	0	0	0	1	0	27	100				
CCDC57	284001	broad.mit.edu	37	17	80130728	80130728	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:80130728G>A	ENST00000389641.4	-	11	1551	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Silent_p.L505L|CCDC57_ENST00000392347.1_Silent_p.L505L			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	505										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CATGCTGCCTGAGAAGCATCT	0.512																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1513-1515)ctC>ctT		coiled-coil domain containing 57							31.0	31.0	31.0					17																	80130728		1935	4147	6082	SO:0001819	synonymous_variant	284001							g.chr17:80130728G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1515C>T	17.37:g.80130728G>A						CCDC57_ENST00000392343.3_Silent_p.L505L|CCDC57_ENST00000389641.4_Silent_p.L505L|CCDC57_ENST00000327026.3_5'UTR	p.L505L	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		11	1551	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		505					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37	c.1515C>T																																																																																					0.512	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	10	0	0	0	1	0	4	10				
SNHG14	104472715	broad.mit.edu	37	15	25449420	25449420	+	RNA	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:25449420G>T	ENST00000424208.1	+	0	2312				SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGCCCTTCCTGTTGCCCTAGT	0.622																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25449420G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449420G>T						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2312	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.622	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			31	35	1	0	1.75199e-13	1	1.88211e-13	31	35				
NEDD4L	23327	broad.mit.edu	37	18	56008370	56008370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:56008370G>A	ENST00000400345.3	+	14	1509	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R381Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R268Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R389Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R288Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R288Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R401Q	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	409	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATAACAATCGAACCACAACT	0.483																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(862-864)cGa>cAa		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							70.0	65.0	67.0					18																	56008370		2012	4173	6185	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56008370G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1226G>A	18.37:g.56008370G>A	ENSP00000383199:p.Arg409Gln					NEDD4L_ENST00000456173.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R389Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R268Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R401Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R288Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R409Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R381Q|NEDD4L_ENST00000589054.1_Intron	p.R288Q	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			14	1463	+			409					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.863G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.211175	0.97380	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	6.0	6.0	0.97389	WW/Rsp5/WWP (6);	0.058657	0.64402	D	0.000001	D	0.89928	0.6857	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.985;0.998;0.996;0.985	P;P;D;P;P	0.79108	0.733;0.63;0.992;0.826;0.63	D	0.89199	0.3556	10	0.59425	D	0.04	.	20.4949	0.99206	0.0:0.0:1.0:0.0	.	381;401;268;409;389	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5;Q96PU5-5	.;.;.;NED4L_HUMAN;.	Q	409;389;268;288;401;268;268;288	ENSP00000383199:R409Q;ENSP00000372301:R389Q;ENSP00000256832:R268Q;ENSP00000411947:R288Q;ENSP00000350569:R401Q;ENSP00000393395:R268Q;ENSP00000405440:R268Q;ENSP00000389406:R288Q	ENSP00000256832:R268Q	R	+	2	0	NEDD4L	54159350	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.842000	0.99487	2.848000	0.98002	0.655000	0.94253	CGA		0.483	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			8	14	0	0	0	1	0	8	14				
SV2B	9899	broad.mit.edu	37	15	91835659	91835659	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:91835659C>T	ENST00000394232.1	+	13	2399	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	SV2B_ENST00000330276.4_Silent_p.T643T|SV2B_ENST00000545111.2_Silent_p.T492T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	643					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGAAACACCATCTTTGCTT	0.483																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1927-1929)acC>acT		synaptic vesicle glycoprotein 2B							158.0	145.0	149.0					15																	91835659		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835659C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1929C>T	15.37:g.91835659C>T						SV2B_ENST00000330276.4_Silent_p.T643T|SV2B_ENST00000545111.2_Silent_p.T492T	p.T643T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		13	2399	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		643					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1929C>T	CCDS10370.1																																																																																				0.483	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		21	112	0	0	0	1	0	21	112				
TAF5L	27097	broad.mit.edu	37	1	229730338	229730338	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:229730338C>T	ENST00000366676.1	-	4	1475	c.1476G>A	c.(1474-1476)ttG>ttA	p.L492L	TAF5L_ENST00000258281.2_Silent_p.L492L			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	492					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCACAGCTTCAACCGCTGGT	0.562																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1474-1476)ttG>ttA		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							72.0	74.0	73.0					1																	229730338		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730338C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1476G>A	1.37:g.229730338C>T						TAF5L_ENST00000366676.1_Silent_p.L492L	p.L492L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1641	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	492					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1476G>A	CCDS1581.1																																																																																				0.562	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		33	87	0	0	0	1	0	33	87				
KIF4B	285643	broad.mit.edu	37	5	154396373	154396373	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396373A>G	ENST00000435029.4	+	1	3114	c.2954A>G	c.(2953-2955)cAa>cGa	p.Q985R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	985	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTTCTCCAAGAGAATGAA	0.453																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2953-2955)cAa>cGa		kinesin family member 4B							147.0	148.0	147.0					5																	154396373		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396373A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2954A>G	5.37:g.154396373A>G	ENSP00000387875:p.Gln985Arg						p.Q985R	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3114	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	985			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2954A>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	0.011	-1.694641	0.00731	.	.	ENSG00000226650	ENST00000435029	T	0.68331	-0.32	1.76	-2.1	0.07210	.	.	.	.	.	T	0.46386	0.1390	L	0.31926	0.97	0.25284	N	0.989413	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	9	0.11182	T	0.66	.	6.529	0.22316	0.6732:0.0:0.3268:0.0	.	985	Q2VIQ3	KIF4B_HUMAN	R	985	ENSP00000387875:Q985R	ENSP00000387875:Q985R	Q	+	2	0	KIF4B	154376566	1.000000	0.71417	0.746000	0.31095	0.153000	0.21895	2.566000	0.45948	-0.500000	0.06614	-0.321000	0.08615	CAA		0.453	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			30	141	0	0	0	1	0	30	141				
CXXC1	30827	broad.mit.edu	37	18	47812185	47812185	+	Silent	SNP	C	C	T	rs533080894	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:47812185C>T	ENST00000285106.6	-	5	1287	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CXXC1_ENST00000412036.2_Silent_p.K191K|CXXC1_ENST00000589940.1_Silent_p.K191K|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	191					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCCGAACTTCTTCATGTCCC	0.617													C|||	3	0.000599042	0.0	0.0043	5008	,	,		17549	0.0		0.0	False		,,,				2504	0.0					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(571-573)aaG>aaA		CXXC finger protein 1							72.0	68.0	70.0					18																	47812185		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812185C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.573G>A	18.37:g.47812185C>T						CXXC1_ENST00000589940.1_Silent_p.K191K|CXXC1_ENST00000412036.2_Silent_p.K191K	p.K191K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1287	-			191					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.573G>A	CCDS11945.1																																																																																				0.617	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		37	71	0	0	0	1	0	37	71				
SUCO	51430	broad.mit.edu	37	1	172520757	172520757	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:172520757C>T	ENST00000263688.3	+	2	387	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SUCO_ENST00000367723.4_Silent_p.F251F|SUCO_ENST00000608151.1_Silent_p.F252F|SUCO_ENST00000610051.1_Silent_p.F56F	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	56					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATGTACAATTCCAGAAAAAGG	0.358																																						ENST00000367723.3																			0											c.(754-756)ttC>ttT		SUN domain containing ossification factor							73.0	72.0	73.0					1																	172520757		2203	4300	6503	SO:0001819	synonymous_variant	51430							g.chr1:172520757C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.168C>T	1.37:g.172520757C>T						SUCO_ENST00000263688.3_Silent_p.F56F	p.F252F	NM_016227.2	NP_057311.2					3	880	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.756C>T	CCDS1303.1																																																																																				0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		8	19	0	0	0	1	0	8	19				
KNTC1	9735	broad.mit.edu	37	12	123054275	123054275	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:123054275C>G	ENST00000333479.7	+	22	1941	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	KNTC1_ENST00000450485.2_Silent_p.L551L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	588					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGCTTGCTCAACTCAATGT	0.383																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(1762-1764)ctC>ctG		kinetochore associated 1							132.0	124.0	127.0					12																	123054275		1885	4125	6010	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123054275C>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1764C>G	12.37:g.123054275C>G						KNTC1_ENST00000450485.2_Silent_p.L551L	p.L588L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	22	1941	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		588					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.1764C>G	CCDS45002.1																																																																																				0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			19	44	0	0	0	1	0	19	44				
NIPBL	25836	broad.mit.edu	37	5	37049397	37049397	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:37049397A>G	ENST00000282516.8	+	40	7447	c.6948A>G	c.(6946-6948)ccA>ccG	p.P2316P	NIPBL_ENST00000448238.2_Silent_p.P2316P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2316					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTATTCATCCAGTTCAGGTAA	0.373																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6946-6948)ccA>ccG		Nipped-B homolog (Drosophila)							162.0	158.0	159.0					5																	37049397		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37049397A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6948A>G	5.37:g.37049397A>G						NIPBL_ENST00000448238.2_Silent_p.P2316P	p.P2316P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		40	7447	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2316					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.6948A>G	CCDS3920.1																																																																																				0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		10	225	0	0	0	1	0	10	225				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)cAt>cTt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	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.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	p.H193L	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)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	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	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	37	0	0	0	1	0	26	37				
AHNAK2	113146	broad.mit.edu	37	14	105420855	105420855	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:105420855C>T	ENST00000333244.5	-	7	1052	c.933G>A	c.(931-933)caG>caA	p.Q311Q	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	311						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTGCCTTCTGCTCTTGGC	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(931-933)caG>caA		AHNAK nucleoprotein 2							27.0	31.0	30.0					14																	105420855		2124	4232	6356	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420855C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.933G>A	14.37:g.105420855C>T							p.Q311Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1052	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	311					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.933G>A	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	42	0	0	0	1	0	6	42				
KCTD9	54793	broad.mit.edu	37	8	25303757	25303757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:25303757C>A	ENST00000221200.4	-	2	278	c.58G>T	c.(58-60)Gta>Tta	p.V20L	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	20	KHA. {ECO:0000255|PROSITE- ProRule:PRU00823}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTTCCATATACAGCAACCACC	0.368																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(58-60)Gta>Tta		potassium channel tetramerization domain containing 9							108.0	102.0	104.0					8																	25303757		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25303757C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.58G>T	8.37:g.25303757C>A	ENSP00000221200:p.Val20Leu					KCTD9_ENST00000518067.1_5'UTR	p.V20L	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	2	278	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	20			KHA.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.58G>T	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019938	0.54576	.	.	ENSG00000104756	ENST00000221200	D	0.86097	-2.07	5.62	5.62	0.85841	Potassium channel, plant-type (2);	0.000000	0.64402	U	0.000002	D	0.85665	0.5749	N	0.13327	0.33	0.80722	D	1	P	0.49185	0.92	D	0.68192	0.956	T	0.81081	-0.1094	10	0.13853	T	0.58	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	20	Q7L273	KCTD9_HUMAN	L	20	ENSP00000221200:V20L	ENSP00000221200:V20L	V	-	1	0	KCTD9	25359674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.378000	0.79679	2.801000	0.96364	0.650000	0.86243	GTA		0.368	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		12	75	1	0	0.0135373	1	0.0136045	12	75				
EXT1	2131	broad.mit.edu	37	8	119123066	119123066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:119123066C>G	ENST00000378204.2	-	1	1026	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	74					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGAATCCTCGTTTTCCAAT	0.577			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(220-222)Gag>Cag		exostosin glycosyltransferase 1							57.0	60.0	59.0					8																	119123066		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119123066C>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.220G>C	8.37:g.119123066C>G	ENSP00000367446:p.Glu74Gln						p.E74Q	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1026	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		74					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.220G>C	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605804	0.28623	.	.	ENSG00000182197	ENST00000378204	D	0.96334	-3.98	5.58	4.65	0.58169	.	0.086077	0.44902	D	0.000403	D	0.91446	0.7300	N	0.20685	0.6	0.40406	D	0.979709	B	0.13145	0.007	B	0.11329	0.006	D	0.87726	0.2576	10	0.17369	T	0.5	-8.8336	15.5791	0.76418	0.0:0.8619:0.1381:0.0	.	74	Q16394	EXT1_HUMAN	Q	74	ENSP00000367446:E74Q	ENSP00000367446:E74Q	E	-	1	0	EXT1	119192247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.510000	0.53393	2.616000	0.88540	0.462000	0.41574	GAG		0.577	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		34	120	0	0	0	1	0	34	120				
ADCY8	114	broad.mit.edu	37	8	131792943	131792943	+	Missense_Mutation	SNP	C	C	G	rs199631888		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:131792943C>G	ENST00000286355.5	-	18	5541	c.3449G>C	c.(3448-3450)cGa>cCa	p.R1150P	ADCY8_ENST00000377928.3_Missense_Mutation_p.R1019P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1150					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATCTCCCCTCGGTAATCAAA	0.517										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3448-3450)cGa>cCa		adenylate cyclase 8 (brain)							158.0	161.0	160.0					8																	131792943		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792943C>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3449G>C	8.37:g.131792943C>G	ENSP00000286355:p.Arg1150Pro	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R1019P	p.R1150P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5541	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1150						Missense_Mutation	SNP	ENST00000286355.5	37	c.3449G>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052930	0.93793	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.34072	1.38;1.38	5.79	5.79	0.91817	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.91872	3.25	0.47476	D	0.99943	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76377	-0.2981	10	0.87932	D	0	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	1019;1150	E7EVL1;P40145	.;ADCY8_HUMAN	P	1150;1019	ENSP00000286355:R1150P;ENSP00000367161:R1019P	ENSP00000286355:R1150P	R	-	2	0	ADCY8	131862125	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	CGA		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			80	180	0	0	0	1	0	80	180				
SPOCK1	6695	broad.mit.edu	37	5	136324223	136324223	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:136324223G>A	ENST00000394945.1	-	8	985	c.816C>T	c.(814-816)atC>atT	p.I272I	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.I272I	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	272					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCCAGGTAGATGGCATTGA	0.493																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(814-816)atC>atT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							172.0	154.0	160.0					5																	136324223		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324223G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.816C>T	5.37:g.136324223G>A						SPOCK1_ENST00000282223.7_Silent_p.I272I|SPOCK1_ENST00000509978.1_5'UTR	p.I272I	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	985	-			272					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.816C>T	CCDS4191.1																																																																																				0.493	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		22	59	0	0	0	1	0	22	59				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	18	0	0	0	1	0	3	18				
RPLP0	6175	broad.mit.edu	37	12	120636945	120636945	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:120636945G>A	ENST00000551150.1	-	3	609	c.294C>T	c.(292-294)atC>atT	p.I98I	RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000546989.1_Silent_p.I98I|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000313104.5_Silent_p.I98I|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000228306.4_Silent_p.I98I|RPLP0_ENST00000392514.4_Silent_p.I98I			P05388	RLA0_HUMAN	ribosomal protein, large, P0	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACATGTCCCTGATCTCAGTGA	0.473																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(292-294)atC>atT		ribosomal protein, large, P0							98.0	94.0	95.0					12																	120636945		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636945G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.294C>T	12.37:g.120636945G>A						RPLP0_ENST00000392514.4_Silent_p.I98I|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.I98I|RPLP0_ENST00000546989.1_Silent_p.I98I|RPLP0_ENST00000228306.4_Silent_p.I98I	p.I98I			P05388	RLA0_HUMAN			3	609	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.294C>T	CCDS9193.1																																																																																				0.473	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		11	59	0	0	0	1	0	11	59				
ZIK1	284307	broad.mit.edu	37	19	58101637	58101637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58101637C>T	ENST00000597850.1	+	4	673	c.458C>T	c.(457-459)tCa>tTa	p.S153L	ZIK1_ENST00000536878.2_Missense_Mutation_p.S140L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.S98L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	153					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGAGCCTCATATGTGAAG	0.493																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(457-459)tCa>tTa		zinc finger protein interacting with K protein 1							95.0	81.0	86.0					19																	58101637		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101637C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.458C>T	19.37:g.58101637C>T	ENSP00000472867:p.Ser153Leu					ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S140L|ZIK1_ENST00000599456.1_Missense_Mutation_p.S98L	p.S153L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	673	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	153					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.458C>T	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	5.096	0.203275	0.09704	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.06371	3.31	2.84	1.8	0.24995	.	.	.	.	.	T	0.05914	0.0154	L	0.37897	1.145	0.09310	N	1	B;B	0.23735	0.09;0.012	B;B	0.23419	0.046;0.006	T	0.35943	-0.9768	9	0.37606	T	0.19	.	8.0283	0.30451	0.0:0.8707:0.0:0.1293	.	140;153	F5H435;Q3SY52	.;ZIK1_HUMAN	L	140;134;153	ENSP00000438487:S140L	ENSP00000303820:S153L	S	+	2	0	ZIK1	62793449	0.000000	0.05858	0.004000	0.12327	0.057000	0.15508	-0.460000	0.06720	0.763000	0.33175	0.455000	0.32223	TCA		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		13	82	0	0	0	1	0	13	82				
FABP4	2167	broad.mit.edu	37	8	82392784	82392784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:82392784C>T	ENST00000256104.4	-	2	218	c.123G>A	c.(121-123)atG>atA	p.M41I	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	41					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CACTGATGATCATGTTAGGTT	0.413																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(121-123)atG>atA		fatty acid binding protein 4, adipocyte							93.0	85.0	88.0					8																	82392784		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392784C>T	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.123G>A	8.37:g.82392784C>T	ENSP00000256104:p.Met41Ile					FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	p.M41I	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	218	-			41					Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.123G>A	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811329	0.32053	.	.	ENSG00000170323	ENST00000256104	T	0.06687	3.27	5.25	4.36	0.52297	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.588707	0.19596	N	0.110512	T	0.04363	0.0120	N	0.05510	-0.035	0.32379	N	0.554835	B	0.02656	0.0	B	0.09377	0.004	T	0.05632	-1.0873	10	0.45353	T	0.12	.	7.6462	0.28321	0.0:0.7119:0.1512:0.1369	.	41	P15090	FABP4_HUMAN	I	41	ENSP00000256104:M41I	ENSP00000256104:M41I	M	-	3	0	FABP4	82555339	0.583000	0.26757	0.991000	0.47740	0.834000	0.47266	0.014000	0.13333	2.733000	0.93635	0.655000	0.94253	ATG		0.413	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		22	54	0	0	0	1	0	22	54				
ANKRD30B	374860	broad.mit.edu	37	18	14851928	14851928	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14851928C>A	ENST00000358984.4	+	36	3808	c.3628C>A	c.(3628-3630)Cct>Act	p.P1210T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1210										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGGAGATGCTCCTTTGCAAGG	0.398																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3628-3630)Cct>Act		ankyrin repeat domain 30B							51.0	38.0	42.0					18																	14851928		692	1590	2282	SO:0001583	missense	374860							g.chr18:14851928C>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3628C>A	18.37:g.14851928C>A	ENSP00000351875:p.Pro1210Thr						p.P1210T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3808	+			1295					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3628C>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546098	0.00926	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.13420	2.59	1.39	0.465	0.16711	.	.	.	.	.	T	0.08492	0.0211	L	0.29908	0.895	0.26121	N	0.980542	B;B	0.23442	0.016;0.085	B;B	0.15484	0.003;0.013	T	0.34900	-0.9810	9	0.30078	T	0.28	.	5.65	0.17610	0.0:0.7963:0.0:0.2037	.	1295;1210	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1210;604;630	ENSP00000351875:P1210T	ENSP00000277669:P630T	P	+	1	0	ANKRD30B	14841928	0.060000	0.20803	0.056000	0.19401	0.024000	0.10985	0.647000	0.24812	0.148000	0.19059	0.173000	0.16961	CCT		0.398	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		12	9	1	0	6.40141e-05	1	6.6137e-05	12	9				
FRAS1	80144	broad.mit.edu	37	4	79359850	79359850	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:79359850G>T	ENST00000325942.6	+	39	5784	c.5344G>T	c.(5344-5346)Gac>Tac	p.D1782Y	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1782Y	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1782					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						cacaATGGAAGACATCAATAA	0.348																																						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.(5344-5346)Gac>Tac		Fraser syndrome 1							49.0	45.0	46.0					4																	79359850		1825	4073	5898	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79359850G>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	ENST00000325942.6:c.5344G>T	4.37:g.79359850G>T	ENSP00000326330:p.Asp1782Tyr					FRAS1_ENST00000325942.6_Missense_Mutation_p.D1782Y	p.D1782Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			39	5784	+			1781					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5344G>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.139135|4.139135	0.77775|0.77775	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944;ENST00000512123	T;T|.	0.50277|.	0.75;0.75|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.123243|.	0.64402|.	D|.	0.000016|.	D|D	0.82309|0.82309	0.5009|0.5009	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.987;0.991|.	T|T	0.82794|0.82794	-0.0281|-0.0281	10|5	0.87932|.	D|.	0|.	.|.	18.4085|18.4085	0.90542|0.90542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1782;1782|.	E9PHH6;A2RRR8|.	.;.|.	Y|I	1782;1782;202|231;10	ENSP00000326330:D1782Y;ENSP00000264895:D1782Y|.	ENSP00000264895:D1782Y|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79578874|79578874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.249000|7.249000	0.78278|0.78278	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.348	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			7	11	1	0	0.00198382	1	0.00201871	7	11				
IVD	3712	broad.mit.edu	37	15	40702842	40702842	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:40702842C>G	ENST00000249760.2	+	4	645	c.302C>G	c.(301-303)tCc>tGc	p.S101C	IVD_ENST00000487418.2_Missense_Mutation_p.S104C|IVD_ENST00000479013.2_Missense_Mutation_p.S74C|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	101					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TATGGCGGCTCCGGCCTGGGC	0.547																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(301-303)tCc>tGc		isovaleryl-CoA dehydrogenase							65.0	63.0	64.0					15																	40702842		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40702842C>G	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.302C>G	15.37:g.40702842C>G	ENSP00000249760:p.Ser101Cys					IVD_ENST00000479013.2_Missense_Mutation_p.S74C|IVD_ENST00000487418.2_Missense_Mutation_p.S104C|IVD_ENST00000490194.1_3'UTR	p.S101C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	4	645	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	101					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.302C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.409480|4.409480	0.83340|0.83340	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000473112|ENST00000249760;ENST00000479013;ENST00000487418	.|D;D;D	.|0.99727	.|-6.55;-6.55;-6.55	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|0.264846	.|0.43747	.|D	.|0.000523	D|D	0.99619|0.99619	0.9861|0.9861	M|M	0.80332|0.80332	2.49|2.49	0.53005|0.53005	D|D	0.999962|0.999962	.|B;D	.|0.53619	.|0.434;0.961	.|P;P	.|0.60415	.|0.647;0.874	D|D	0.98005|0.98005	1.0362|1.0362	5|10	.|0.66056	.|D	.|0.02	.|.	18.6378|18.6378	0.91384|0.91384	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|101;74	.|P26440;B3KVI7	.|IVD_HUMAN;.	A|C	21|101;74;104	.|ENSP00000249760:S101C;ENSP00000417990:S74C;ENSP00000418397:S104C	.|ENSP00000249760:S101C	P|S	+|+	1|2	0|0	IVD|IVD	38490134|38490134	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.988000|0.988000	0.76386|0.76386	5.884000|5.884000	0.69729|0.69729	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.547	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				37	55	0	0	0	1	0	37	55				
GALNT4	8693	broad.mit.edu	37	12	89917768	89917768	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:89917768C>G	ENST00000529983.2	-	1	815	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.E184Q|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	187	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ATGTAAGTTTCAAGTTGTGTC	0.443											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000548729.1																			0											c.(550-552)Gaa>Caa									83.0	81.0	81.0					12																	89917768		1911	4120	6031	SO:0001583	missense	100528030							g.chr12:89917768C>G	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.559G>C	12.37:g.89917768C>G	ENSP00000436604:p.Glu187Gln		OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.E187Q|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron	p.E184Q	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	852	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.550G>C	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326727	0.60743	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.60424	0.19;0.19	5.88	5.88	0.94601	Glycosyl transferase, family 2 (1);	.	.	.	.	T	0.65790	0.2725	L	0.50993	1.605	0.39388	D	0.966373	B;B	0.33135	0.346;0.399	B;P	0.44990	0.335;0.466	T	0.67074	-0.5762	9	0.72032	D	0.01	.	19.2045	0.93724	0.0:1.0:0.0:0.0	.	184;187	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	Q	184;187	ENSP00000447852:E184Q;ENSP00000436604:E187Q	ENSP00000436604:E187Q	E	-	1	0	GALNT4;RP11-1109F11.4	88441899	1.000000	0.71417	0.460000	0.27093	0.204000	0.24138	7.725000	0.84808	2.784000	0.95788	0.655000	0.94253	GAA		0.443	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		21	44	0	0	0	1	0	21	44				
RECQL5	9400	broad.mit.edu	37	17	73654511	73654511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:73654511G>T	ENST00000317905.5	-	7	1175	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	RECQL5_ENST00000423245.2_Missense_Mutation_p.S312Y|RECQL5_ENST00000420326.2_Missense_Mutation_p.S339Y|RECQL5_ENST00000340830.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000584999.1_Missense_Mutation_p.S339Y	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	339	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCAGCCATAGACTTGGCAAT	0.542								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1015-1017)tCt>tAt	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							113.0	114.0	114.0					17																	73654511		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73654511G>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1016C>A	17.37:g.73654511G>T	ENSP00000317636:p.Ser339Tyr					RECQL5_ENST00000423245.2_Missense_Mutation_p.S312Y|RECQL5_ENST00000340830.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000317905.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000584999.1_Missense_Mutation_p.S339Y	p.S339Y	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		7	1175	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		339			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1016C>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256629	0.59321	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.80033	-1.33;-1.33;-1.33	5.84	5.84	0.93424	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.99	D	0.95723	0.8768	10	0.87932	D	0	-16.5312	20.1346	0.98019	0.0:0.0:1.0:0.0	.	339;312;339	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	Y	339	ENSP00000317636:S339Y;ENSP00000414933:S339Y;ENSP00000341983:S339Y	ENSP00000317636:S339Y	S	-	2	0	RECQL5	71166106	1.000000	0.71417	0.980000	0.43619	0.953000	0.61014	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TCT		0.542	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		91	159	1	0	6.65942e-36	1	7.49185e-36	91	159				
CEP104	9731	broad.mit.edu	37	1	3750506	3750506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:3750506C>G	ENST00000378230.3	-	12	1903	c.1579G>C	c.(1579-1581)Gag>Cag	p.E527Q	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	527						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATGGTCCTCTCCACACAGTGA	0.423																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1579-1581)Gag>Cag		centrosomal protein 104kDa							132.0	125.0	127.0					1																	3750506		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3750506C>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1579G>C	1.37:g.3750506C>G	ENSP00000367476:p.Glu527Gln					CEP104_ENST00000460038.1_5'UTR	p.E527Q	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			12	1903	-			527					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1579G>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551284	0.65311	.	.	ENSG00000116198	ENST00000378230	T	0.68479	-0.33	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.060972	0.64402	D	0.000005	D	0.82309	0.5009	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.973;0.997	T	0.82309	-0.0521	10	0.37606	T	0.19	.	17.3632	0.87357	0.0:1.0:0.0:0.0	.	527;527	O60308-3;O60308	.;CE104_HUMAN	Q	527	ENSP00000367476:E527Q	ENSP00000367476:E527Q	E	-	1	0	CEP104	3740366	1.000000	0.71417	0.993000	0.49108	0.265000	0.26407	6.734000	0.74801	2.329000	0.79093	0.467000	0.42956	GAG		0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		16	43	0	0	0	1	0	16	43				
TLK2	11011	broad.mit.edu	37	17	60673966	60673966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:60673966G>A	ENST00000326270.9	+	18	1815	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	TLK2_ENST00000346027.5_Missense_Mutation_p.R494Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R462Q|TLK2_ENST00000582809.1_Missense_Mutation_p.R345Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R462Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGGGAATACCGGATTCATAAA	0.378																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1033-1035)cGg>cAg		tousled-like kinase 2							203.0	177.0	186.0					17																	60673966		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60673966G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1547G>A	17.37:g.60673966G>A	ENSP00000316512:p.Arg516Gln					TLK2_ENST00000346027.5_Missense_Mutation_p.R494Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R516Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R462Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R462Q	p.R345Q			Q86UE8	TLK2_HUMAN			18	1737	+			516					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1034G>A		.	.	.	.	.	.	.	.	.	.	G	17.82	3.484180	0.63962	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.28740	0.885	0.80722	D	1	D;B;B;B	0.55172	0.97;0.246;0.264;0.081	P;B;B;B	0.56700	0.804;0.066;0.045;0.086	T	0.67577	-0.5635	10	0.49607	T	0.09	.	17.778	0.88515	0.0:0.0:1.0:0.0	.	516;462;494;494	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	494;462;516;462	ENSP00000275780:R494Q;ENSP00000340800:R462Q;ENSP00000316512:R516Q;ENSP00000442311:R462Q	ENSP00000316512:R516Q	R	+	2	0	TLK2	58027698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.443000	0.82685	0.655000	0.94253	CGG		0.378	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		31	157	0	0	0	1	0	31	157				
OR2M5	127059	broad.mit.edu	37	1	248309207	248309207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309207G>C	ENST00000366476.1	+	1	758	c.758G>C	c.(757-759)gGa>gCa	p.G253A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(757-759)gGa>gCa		olfactory receptor, family 2, subfamily M, member 5							222.0	203.0	209.0					1																	248309207		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309207G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.758G>C	1.37:g.248309207G>C	ENSP00000355432:p.Gly253Ala						p.G253A	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	758	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		253						Missense_Mutation	SNP	ENST00000366476.1	37	c.758G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.361	1.067987	0.20067	.	.	ENSG00000162727	ENST00000366476	T	0.37058	1.22	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31685	U	0.007225	T	0.54854	0.1884	M	0.89095	3.005	0.09310	N	1	P	0.45011	0.848	P	0.57324	0.818	T	0.45308	-0.9270	10	0.42905	T	0.14	.	6.0169	0.19608	0.1095:0.0:0.6523:0.2382	.	253	A3KFT3	OR2M5_HUMAN	A	253	ENSP00000355432:G253A	ENSP00000355432:G253A	G	+	2	0	OR2M5	246375830	0.000000	0.05858	0.005000	0.12908	0.332000	0.28634	-0.213000	0.09305	0.475000	0.27415	0.492000	0.49549	GGA		0.498	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		43	139	0	0	0	1	0	43	139				
GRIN3B	116444	broad.mit.edu	37	19	1005181	1005181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:1005181G>A	ENST00000234389.3	+	3	1700	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	561					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGGGCACGGGACACGGCCTC	0.652																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1681-1683)Gac>Aac		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						60.0	54.0	56.0					19																	1005181		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005181G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1681G>A	19.37:g.1005181G>A	ENSP00000234389:p.Asp561Asn					GRIN3B_ENST00000588335.1_3'UTR	p.D561N	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1700	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	561					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1681G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893493	0.72639	.	.	ENSG00000116032	ENST00000234389	T	0.29655	1.56	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.36672	1.1	0.47778	D	0.999517	D	0.89917	1.0	D	0.91635	0.999	T	0.11916	-1.0568	10	0.06625	T	0.88	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	561	O60391	NMD3B_HUMAN	N	561	ENSP00000234389:D561N	ENSP00000234389:D561N	D	+	1	0	GRIN3B	956181	1.000000	0.71417	0.860000	0.33809	0.380000	0.30137	9.281000	0.95811	2.100000	0.63781	0.485000	0.47835	GAC		0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			21	86	0	0	0	1	0	21	86				
KIF4B	285643	broad.mit.edu	37	5	154396896	154396896	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396896T>C	ENST00000435029.4	+	1	3637	c.3477T>C	c.(3475-3477)ccT>ccC	p.P1159P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1159	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTTTAACCCTGTCTGTGCCA	0.532																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3475-3477)ccT>ccC		kinesin family member 4B							97.0	99.0	98.0					5																	154396896		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396896T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3477T>C	5.37:g.154396896T>C							p.P1159P	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3637	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1159			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3477T>C	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			5	65	0	0	0	1	0	5	65				
CSMD3	114788	broad.mit.edu	37	8	113349834	113349834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:113349834G>A	ENST00000297405.5	-	43	7023	c.6779C>T	c.(6778-6780)tCa>tTa	p.S2260L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2156L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2190L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2220L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2260	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGCTGAATTTCCAAT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6778-6780)tCa>tTa		CUB and Sushi multiple domains 3							106.0	104.0	105.0					8																	113349834		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349834G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6779C>T	8.37:g.113349834G>A	ENSP00000297405:p.Ser2260Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.S2190L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2156L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2220L	p.S2260L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	7023	-			2260			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6779C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183476	0.94885	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.185097	0.36778	N	0.002410	T	0.80110	0.4563	H	0.95539	3.685	0.58432	D	0.99999	B;P;P	0.46395	0.321;0.542;0.877	B;B;P	0.47915	0.205;0.216;0.561	D	0.85041	0.0923	10	0.52906	T	0.07	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	2156;2260;2220	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2220;2260;1530;2156;2190	ENSP00000345799:S2220L;ENSP00000297405:S2260L;ENSP00000341558:S1530L;ENSP00000412263:S2156L;ENSP00000343124:S2190L	ENSP00000297405:S2260L	S	-	2	0	CSMD3	113419010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	2.835000	0.97688	0.650000	0.86243	TCA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		35	82	0	0	0	1	0	35	82				
DTNA	1837	broad.mit.edu	37	18	32438277	32438277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:32438277C>T	ENST00000399113.3	+	15	1480	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	DTNA_ENST00000399121.5_Missense_Mutation_p.R434W|DTNA_ENST00000598774.1_Missense_Mutation_p.R437W|DTNA_ENST00000598334.1_Missense_Mutation_p.R434W|DTNA_ENST00000596745.1_Missense_Mutation_p.R244W|DTNA_ENST00000601125.1_Missense_Mutation_p.R116W|DTNA_ENST00000597674.1_Missense_Mutation_p.R116W|DTNA_ENST00000269190.7_Missense_Mutation_p.R495W|DTNA_ENST00000595022.1_Missense_Mutation_p.R434W|DTNA_ENST00000269192.7_Missense_Mutation_p.R203W|DTNA_ENST00000598142.1_Missense_Mutation_p.R437W|DTNA_ENST00000348997.5_Missense_Mutation_p.R491W|DTNA_ENST00000283365.9_Missense_Mutation_p.R437W|DTNA_ENST00000444659.1_Missense_Mutation_p.R494W|DTNA_ENST00000399097.3_Missense_Mutation_p.R142W|DTNA_ENST00000556414.3_Missense_Mutation_p.R146W|DTNA_ENST00000599844.1_Missense_Mutation_p.R116W|DTNA_ENST00000591182.1_Missense_Mutation_p.R142W|DTNA_ENST00000597599.1_Missense_Mutation_p.R434W|DTNA_ENST00000269191.6_Missense_Mutation_p.R494W			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	494					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R494W(1)|p.R142W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAGAGACTTCGGCTAGAGCA	0.522																																						ENST00000283365.9																			2	Substitution - Missense(2)	p.R494W(1)|p.R142W(1)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)Cgg>Tgg		dystrobrevin, alpha							58.0	57.0	58.0					18																	32438277		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438277C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1480C>T	18.37:g.32438277C>T	ENSP00000382064:p.Arg494Trp					DTNA_ENST00000597674.1_Missense_Mutation_p.R116W|DTNA_ENST00000269192.7_Missense_Mutation_p.R203W|DTNA_ENST00000399121.5_Missense_Mutation_p.R434W|DTNA_ENST00000269190.7_Missense_Mutation_p.R495W|DTNA_ENST00000596745.1_Missense_Mutation_p.R244W|DTNA_ENST00000348997.5_Missense_Mutation_p.R491W|DTNA_ENST00000444659.1_Missense_Mutation_p.R494W|DTNA_ENST00000399113.3_Missense_Mutation_p.R494W|DTNA_ENST00000399097.3_Missense_Mutation_p.R142W|DTNA_ENST00000597599.1_Missense_Mutation_p.R434W|DTNA_ENST00000556414.3_Missense_Mutation_p.R146W|DTNA_ENST00000269191.6_Missense_Mutation_p.R494W|DTNA_ENST00000598142.1_Missense_Mutation_p.R437W|DTNA_ENST00000598774.1_Missense_Mutation_p.R437W|DTNA_ENST00000601125.1_Missense_Mutation_p.R116W|DTNA_ENST00000591182.1_Missense_Mutation_p.R142W|DTNA_ENST00000595022.1_Missense_Mutation_p.R434W|DTNA_ENST00000599844.1_Missense_Mutation_p.R116W|DTNA_ENST00000598334.1_Missense_Mutation_p.R434W	p.R437W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			15	1660	+			494			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1309C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856070	0.71834	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.76	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	M	0.76328	2.33	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.991;0.999;0.999;0.998;0.999;0.997;0.999;0.997;0.999;0.997;0.998;0.999;0.994	D	0.90702	0.4621	10	0.87932	D	0	-17.8019	14.3687	0.66823	0.5113:0.4887:0.0:0.0	.	146;203;184;244;116;494;494;434;437;142;491;434;445;437;437	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	W	437;437;434;495;142;491;494;494;494;494;203;142;146	ENSP00000283365:R437W;ENSP00000269190:R495W;ENSP00000382048:R142W;ENSP00000336682:R491W;ENSP00000405819:R494W;ENSP00000269191:R494W;ENSP00000382064:R494W;ENSP00000269192:R203W;ENSP00000452255:R146W	ENSP00000269190:R495W	R	+	1	2	DTNA	30692275	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.909000	0.39917	0.709000	0.31976	0.650000	0.86243	CGG		0.522	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		11	27	0	0	0	1	0	11	27				
TECTB	6975	broad.mit.edu	37	10	114057948	114057948	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:114057948G>C	ENST00000369422.3	+	7	793	c.793G>C	c.(793-795)Gag>Cag	p.E265Q		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	265	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTTACACTGTGAGACGTTCAT	0.517																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(793-795)Gag>Cag		tectorin beta							105.0	90.0	95.0					10																	114057948		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114057948G>C	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.793G>C	10.37:g.114057948G>C	ENSP00000358430:p.Glu265Gln						p.E265Q	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	7	793	+		Colorectal(252;0.198)	265			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.793G>C	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924817	0.92319	.	.	ENSG00000119913	ENST00000369422	D	0.81659	-1.52	6.03	6.03	0.97812	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83070	-0.0143	10	0.20519	T	0.43	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	265	Q96PL2	TECTB_HUMAN	Q	265	ENSP00000358430:E265Q	ENSP00000358430:E265Q	E	+	1	0	TECTB	114047938	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.298000	0.89944	2.854000	0.98071	0.655000	0.94253	GAG		0.517	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		10	33	0	0	0	1	0	10	33				
CERS3	204219	broad.mit.edu	37	15	100942945	100942945	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:100942945G>A	ENST00000394113.1	-	14	1815	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	CERS3_ENST00000538112.2_Silent_p.L375L|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000284382.4_Silent_p.L375L|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560643.1_RNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3	375					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CATTGGGAATGAGGTGCCTCT	0.532																																						ENST00000284382.4																			0											c.(1123-1125)ctC>ctT		ceramide synthase 3							146.0	116.0	126.0					15																	100942945		2203	4300	6503	SO:0001819	synonymous_variant	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100942945G>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1125C>T	15.37:g.100942945G>A						RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Silent_p.L375L|CERS3_ENST00000538112.2_Silent_p.L375L	p.L375L	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			13	1548	-			375					Q8NE64|Q8NEN6	Silent	SNP	ENST00000394113.1	37	c.1125C>T	CCDS10384.1																																																																																				0.532	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		7	52	0	0	0	1	0	7	52				
MYRIP	25924	broad.mit.edu	37	3	40293461	40293461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:40293461G>T	ENST00000302541.6	+	16	2860	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	MYRIP_ENST00000396217.3_Nonsense_Mutation_p.E751*|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.E653*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.E775*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.E840*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	840	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGACTAAGGAAAGGAAAGG	0.403																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2518-2520)Gaa>Taa		myosin VIIA and Rab interacting protein							98.0	95.0	96.0					3																	40293461		2203	4300	6503	SO:0001587	stop_gained	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40293461G>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2518G>T	3.37:g.40293461G>T	ENSP00000301972:p.Glu840*					MYRIP_ENST00000539167.1_Nonsense_Mutation_p.E653*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.E751*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.E840*|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.E775*|MYRIP_ENST00000459828.1_3'UTR	p.E840*	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	16	2860	+			840			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Nonsense_Mutation	SNP	ENST00000302541.6	37	c.2518G>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992854	0.99029	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	.	.	.	5.83	5.83	0.93111	.	0.377447	0.22701	N	0.056684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5872	0.87986	0.0:0.0:1.0:0.0	.	.	.	.	X	840;840;775;751;653	.	.	E	+	1	0	MYRIP	40268465	1.000000	0.71417	0.015000	0.15790	0.799000	0.45148	6.283000	0.72646	2.744000	0.94065	0.655000	0.94253	GAA		0.403	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		7	28	1	0	0.00198382	1	0.00201871	7	28				
GNAL	2774	broad.mit.edu	37	18	11752440	11752440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:11752440G>A	ENST00000423027.3	+	1	329	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.C3Y|GNAL_ENST00000269162.5_Missense_Mutation_p.C3Y			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	3					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGCATGGGGTGTTTGGGCGGC	0.567																																						ENST00000423027.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(7-9)tGt>tAt		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							94.0	95.0	95.0					18																	11752440		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752440G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.8G>A	18.37:g.11752440G>A	ENSP00000408489:p.Cys3Tyr					GNAL_ENST00000269162.5_Missense_Mutation_p.C3Y|GNAL_ENST00000535121.1_Missense_Mutation_p.C3Y|GNAL_ENST00000334049.6_Intron	p.C3Y			P38405	GNAL_HUMAN			1	329	+			3					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.8G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703694	0.88924	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.89875	-2.58;-2.58;-2.58	4.63	4.63	0.57726	.	.	.	.	.	D	0.93334	0.7875	M	0.80616	2.505	0.80722	D	1	D	0.55605	0.972	P	0.56700	0.804	D	0.94442	0.7659	9	0.87932	D	0	.	17.6685	0.88210	0.0:0.0:1.0:0.0	.	3	P38405	GNAL_HUMAN	Y	3	ENSP00000439023:C3Y;ENSP00000269162:C3Y;ENSP00000408489:C3Y	ENSP00000269162:C3Y	C	+	2	0	GNAL	11742440	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.928000	0.92853	2.412000	0.81896	0.491000	0.48974	TGT		0.567	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		45	129	0	0	0	1	0	45	129				
GRM1	2911	broad.mit.edu	37	6	146351107	146351107	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:146351107A>G	ENST00000282753.1	+	1	689	c.454A>G	c.(454-456)Act>Gct	p.T152A	GRM1_ENST00000492807.2_Missense_Mutation_p.T152A|GRM1_ENST00000507907.1_Missense_Mutation_p.T152A|GRM1_ENST00000361719.2_Missense_Mutation_p.T152A|GRM1_ENST00000355289.4_Missense_Mutation_p.T152A|GRM1_ENST00000392299.2_Missense_Mutation_p.T152A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	152					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCAGGCAGGACTAAGAAGCC	0.562																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(454-456)Act>Gct		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						68.0	72.0	70.0					6																	146351107		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351107A>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.454A>G	6.37:g.146351107A>G	ENSP00000282753:p.Thr152Ala					GRM1_ENST00000507907.1_Missense_Mutation_p.T152A|GRM1_ENST00000492807.2_Missense_Mutation_p.T152A|GRM1_ENST00000361719.2_Missense_Mutation_p.T152A|GRM1_ENST00000282753.1_Missense_Mutation_p.T152A|GRM1_ENST00000355289.4_Missense_Mutation_p.T152A	p.T152A			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	924	+		Ovarian(120;0.0387)	152					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.454A>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	6.263	0.416647	0.11870	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.69	3.3	0.37823	Extracellular ligand-binding receptor (1);	0.220123	0.46758	D	0.000269	T	0.36303	0.0962	N	0.02802	-0.49	0.38572	D	0.949966	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.002;0.001	T	0.26503	-1.0101	10	0.11794	T	0.64	.	5.2249	0.15389	0.5501:0.3129:0.137:0.0	.	152;152;147;152	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	A	152	ENSP00000354896:T152A;ENSP00000376119:T152A;ENSP00000424095:T152A;ENSP00000282753:T152A;ENSP00000347437:T152A;ENSP00000425599:T152A	ENSP00000282753:T152A	T	+	1	0	GRM1	146392800	0.997000	0.39634	1.000000	0.80357	0.648000	0.38561	2.847000	0.48270	0.962000	0.38057	0.459000	0.35465	ACT		0.562	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		74	30	0	0	0	1	0	74	30				
CASP8	841	broad.mit.edu	37	2	202137501	202137501	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202137501T>C	ENST00000432109.2	+	5	739		c.e5+2		CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000264274.9_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e4+2		caspase 8, apoptosis-related cysteine peptidase							109.0	111.0	110.0					2																	202137501		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137501T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.550+2T>C	2.37:g.202137501T>C		HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392266.3_Splice_Site		NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			4	923	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37		CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	8.313	0.822459	0.16678	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	.	.	.	5.75	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4854	0.33067	0.0:0.0882:0.0:0.9118	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845746	1.000000	0.71417	0.975000	0.42487	0.031000	0.12232	4.677000	0.61634	1.009000	0.39289	0.482000	0.46254	.		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	140	135	0	0	0	1	0	140	135				
RNASET2	8635	broad.mit.edu	37	6	167344565	167344565	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:167344565C>A	ENST00000508775.1	-	8	1053	c.534G>T	c.(532-534)gtG>gtT	p.V178V	RNASET2_ENST00000476238.2_Silent_p.V178V|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Silent_p.V140V|RNASET2_ENST00000496851.2_5'Flank	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	178					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTGGGTATCACTCCATATA	0.373																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.(418-420)gtG>gtT		ribonuclease T2							183.0	174.0	177.0					6																	167344565		2203	4300	6503	SO:0001819	synonymous_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167344565C>A	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.534G>T	6.37:g.167344565C>A						RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Silent_p.V178V|RNASET2_ENST00000476238.2_Silent_p.V178V	p.V140V			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	9	1095	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	178					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Silent	SNP	ENST00000508775.1	37	c.420G>T	CCDS5295.1																																																																																				0.373	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		35	100	1	0	2.09667e-21	1	2.31376e-21	35	100				
NUCB1	4924	broad.mit.edu	37	19	49422497	49422497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:49422497C>T	ENST00000405315.4	+	10	1290	c.956C>T	c.(955-957)gCa>gTa	p.A319V	NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Missense_Mutation_p.A319V|NUCB1_ENST00000263273.5_Missense_Mutation_p.A319V|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	319	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGTTCCTCGCATCCACTCAG	0.627																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(955-957)gCa>gTa		nucleobindin 1							48.0	52.0	51.0					19																	49422497		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422497C>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.956C>T	19.37:g.49422497C>T	ENSP00000385923:p.Ala319Val					NUCB1_ENST00000263273.5_Missense_Mutation_p.A319V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.A319V	p.A319V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	10	1290	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	319			Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.956C>T	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.767|8.767	0.925105|0.925105	0.18056|0.18056	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273|ENST00000424608	T;T;T|.	0.72282|.	-0.64;-0.64;-0.64|.	4.32|4.32	3.26|3.26	0.37387|0.37387	EF-hand-like domain (1);|.	0.353950|.	0.31233|.	N|.	0.008010|.	T|T	0.25717|0.25717	0.0626|0.0626	N|N	0.25647|0.25647	0.755|0.755	0.25775|0.25775	N|N	0.984791|0.984791	B;B|.	0.28178|.	0.202;0.202|.	B;B|.	0.35182|.	0.197;0.197|.	T|T	0.17349|0.17349	-1.0372|-1.0372	10|5	0.30854|.	T|.	0.27|.	.|.	6.3112|6.3112	0.21166|0.21166	0.1805:0.7195:0.0:0.0999|0.1805:0.7195:0.0:0.0999	.|.	319;319|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	V|Y	319|289	ENSP00000385923:A319V;ENSP00000385211:A319V;ENSP00000263273:A319V|.	ENSP00000263273:A319V|.	A|H	+|+	2|1	0|0	NUCB1|NUCB1	54114309|54114309	0.000000|0.000000	0.05858|0.05858	0.663000|0.663000	0.29738|0.29738	0.090000|0.090000	0.18270|0.18270	0.453000|0.453000	0.21811|0.21811	1.120000|1.120000	0.41904|0.41904	0.591000|0.591000	0.81541|0.81541	GCA|CAT		0.627	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		16	47	0	0	0	1	0	16	47				
STIP1	10963	broad.mit.edu	37	11	63970956	63970956	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63970956C>T	ENST00000305218.4	+	13	1568	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	STIP1_ENST00000538945.1_Missense_Mutation_p.A450V|STIP1_ENST00000358794.5_Missense_Mutation_p.A521V	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	474					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGTATGATGGCGCAGTACAAC	0.602																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1561-1563)gCg>gTg		stress-induced-phosphoprotein 1							48.0	39.0	42.0					11																	63970956		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63970956C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1421C>T	11.37:g.63970956C>T	ENSP00000305958:p.Ala474Val					STIP1_ENST00000538945.1_Missense_Mutation_p.A450V|STIP1_ENST00000305218.4_Missense_Mutation_p.A474V	p.A521V			P31948	STIP1_HUMAN			13	2115	+			474			STI1 2.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1562C>T	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839450	0.71488	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T	0.18174	2.26;2.49;2.23	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.221172	0.47455	D	0.000234	T	0.17323	0.0416	L	0.41492	1.28	0.80722	D	1	B;B	0.25743	0.133;0.082	B;B	0.21917	0.037;0.016	T	0.02966	-1.1088	10	0.29301	T	0.29	-7.9614	18.4343	0.90638	0.0:1.0:0.0:0.0	.	450;474	F5H0T1;P31948	.;STIP1_HUMAN	V	521;474;450;73	ENSP00000351646:A521V;ENSP00000305958:A474V;ENSP00000445957:A450V	ENSP00000305958:A474V	A	+	2	0	STIP1	63727532	0.993000	0.37304	0.998000	0.56505	0.911000	0.54048	2.381000	0.44336	2.744000	0.94065	0.561000	0.74099	GCG		0.602	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		19	21	0	0	0	1	0	19	21				
UTP14A	10813	broad.mit.edu	37	X	129045063	129045063	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:129045063A>G	ENST00000394422.3	+	5	346	c.318A>G	c.(316-318)caA>caG	p.Q106Q	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.Q52Q|UTP14A_ENST00000425117.2_Silent_p.Q106Q|UTP14A_ENST00000371042.3_5'Flank	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	106					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGAAAAAGCAACTGAGTAGAG	0.423																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(316-318)caA>caG		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							121.0	113.0	116.0					X																	129045063		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129045063A>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.318A>G	X.37:g.129045063A>G						UTP14A_ENST00000425117.2_Silent_p.Q106Q|UTP14A_ENST00000371051.5_Silent_p.Q52Q|RP4-537K23.4_ENST00000432062.1_RNA	p.Q106Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			5	346	+			106					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.318A>G	CCDS14615.1																																																																																				0.423	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		46	30	0	0	0	1	0	46	30				
KMT2D	8085	broad.mit.edu	37	12	49420274	49420274	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49420274G>A	ENST00000301067.7	-	48	15474	c.15475C>T	c.(15475-15477)Cgg>Tgg	p.R5159W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5159					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCTCGTCCCGCTCAATGTAG	0.562																																						ENST00000301067.7																			0											c.(15475-15477)Cgg>Tgg		lysine (K)-specific methyltransferase 2D							62.0	63.0	63.0					12																	49420274		2090	4200	6290	SO:0001583	missense	8085							g.chr12:49420274G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15475C>T	12.37:g.49420274G>A	ENSP00000301067:p.Arg5159Trp						p.R5159W	NM_003482.3	NP_003473.3					48	15474	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15475C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874966	0.33162	.	.	ENSG00000167548	ENST00000301067	D	0.82081	-1.57	4.9	3.98	0.46160	.	0.000000	0.33591	N	0.004754	D	0.89959	0.6866	M	0.77313	2.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.90503	0.4475	10	0.87932	D	0	.	11.5993	0.50993	0.0:0.0:0.6768:0.3231	.	5159	O14686	MLL2_HUMAN	W	5159	ENSP00000301067:R5159W	ENSP00000301067:R5159W	R	-	1	2	MLL2	47706541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.573000	0.67417	1.160000	0.42584	0.655000	0.94253	CGG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			21	47	0	0	0	1	0	21	47				
WDR90	197335	broad.mit.edu	37	16	716533	716533	+	Missense_Mutation	SNP	G	G	A	rs371191203		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:716533G>A	ENST00000293879.4	+	38	4819	c.4819G>A	c.(4819-4821)Gac>Aac	p.D1607N	WDR90_ENST00000549091.1_Missense_Mutation_p.D1609N|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.D206N|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547543.1_3'UTR			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1607										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGCCTCCGACTGGCTGCG	0.632																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4825-4827)Gac>Aac		WD repeat domain 90							37.0	48.0	44.0					16																	716533		2127	4232	6359	SO:0001583	missense	197335							g.chr16:716533G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4819G>A	16.37:g.716533G>A	ENSP00000293879:p.Asp1607Asn					WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.D1607N|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.D206N	p.D1609N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			38	4917	+		Hepatocellular(780;0.0218)	1607					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4825G>A	CCDS42092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.860|9.860	1.196147|1.196147	0.22037|0.22037	.|.	.|.	ENSG00000161996|ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944|ENST00000551100	T;T;T|.	0.66099|.	1.41;1.41;-0.19|.	4.75|4.75	-0.665|-0.665	0.11403|0.11403	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.471311|.	0.23999|.	N|.	0.042491|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B|.	0.32051|.	0.333;0.354|.	B;B|.	0.23275|.	0.042;0.045|.	T|T	0.43327|0.43327	-0.9398|-0.9398	10|5	0.26408|.	T|.	0.33|.	.|.	9.3824|9.3824	0.38322|0.38322	0.359:0.0:0.641:0.0|0.359:0.0:0.641:0.0	.|.	206;1607|.	G3V201;Q96KV7|.	.;WDR90_HUMAN|.	N|Q	1609;1607;206|13	ENSP00000448122:D1609N;ENSP00000293879:D1607N;ENSP00000449576:D206N|.	ENSP00000293879:D1607N|.	D|R	+|+	1|2	0|0	WDR90|WDR90	656534|656534	0.863000|0.863000	0.29885|0.29885	0.011000|0.011000	0.14972|0.14972	0.766000|0.766000	0.43426|0.43426	1.821000|1.821000	0.39041|0.39041	-0.397000|-0.397000	0.07691|0.07691	-0.272000|-0.272000	0.10252|0.10252	GAC|CGA		0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		16	57	0	0	0	1	0	16	57				
NUP210L	91181	broad.mit.edu	37	1	153982496	153982496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982496G>A	ENST00000368559.3	-	35	4953	c.4882C>T	c.(4882-4884)Cca>Tca	p.P1628S	NUP210L_ENST00000368553.1_Missense_Mutation_p.P561S|NUP210L_ENST00000271854.3_Missense_Mutation_p.P1628S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1628					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTACTTGCTGGAATGTCTAGC	0.413																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4882-4884)Cca>Tca		nucleoporin 210kDa-like							144.0	137.0	139.0					1																	153982496		1864	4114	5978	SO:0001583	missense	91181					integral to membrane		g.chr1:153982496G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4882C>T	1.37:g.153982496G>A	ENSP00000357547:p.Pro1628Ser					NUP210L_ENST00000368553.1_Missense_Mutation_p.P561S|NUP210L_ENST00000271854.3_Missense_Mutation_p.P1628S	p.P1628S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		35	4953	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1628					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4882C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862327	0.71949	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.22134	3.61;1.97;3.3	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000009	T	0.32255	0.0823	M	0.69823	2.125	0.37006	D	0.895499	D;D	0.76494	0.999;0.999	D;D	0.63488	0.915;0.915	T	0.02909	-1.1095	10	0.32370	T	0.25	-22.4059	15.1938	0.73067	0.0:0.0:1.0:0.0	.	1628;1628	E7EP56;Q5VU65	.;P210L_HUMAN	S	1628;561;1628	ENSP00000357547:P1628S;ENSP00000357541:P561S;ENSP00000271854:P1628S	ENSP00000271854:P1628S	P	-	1	0	NUP210L	152249120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.473000	0.53122	2.603000	0.88011	0.557000	0.71058	CCA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		47	59	0	0	0	1	0	47	59				
MALAT1	378938	broad.mit.edu	37	11	65271069	65271069	+	lincRNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:65271069C>T	ENST00000534336.1	+	0	5837					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTAAATCATTCAAAATAATAA	0.289																																						ENST00000534336.1																			0																				71.0	74.0	73.0					11																	65271069		874	1988	2862			378938							g.chr11:65271069C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271069C>T								NR_002819.2						0	5837	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.289	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		19	61	0	0	0	1	0	19	61				
PCDH9	5101	broad.mit.edu	37	13	66879068	66879068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:66879068G>A	ENST00000377865.2	-	4	3567	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	PCDH9_ENST00000544246.1_Missense_Mutation_p.P1145S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P1111S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P1111S|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1145					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1145S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCCAGGAGGCATCCAGCAA	0.507																																						ENST00000544246.1																			1	Substitution - Missense(1)	p.P1145S(1)	ovary(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3433-3435)Cct>Tct		protocadherin 9							113.0	98.0	103.0					13																	66879068		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879068G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3433C>T	13.37:g.66879068G>A	ENSP00000367096:p.Pro1145Ser					PCDH9_ENST00000328454.5_Missense_Mutation_p.P1111S|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1145S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P1111S	p.P1145S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4124	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1145					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3433C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463547	0.84425	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	D;D;D;D	0.91237	-2.81;-2.81;-2.7;-2.7	6.16	6.16	0.99307	.	0.000000	0.48767	D	0.000168	D	0.92182	0.7521	M	0.66439	2.03	0.53005	D	0.999968	P;P;P	0.47302	0.86;0.893;0.86	B;P;B	0.45881	0.373;0.496;0.373	D	0.92262	0.5818	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1103;1111;1145	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	S	1145;1145;1111;1111	ENSP00000442186:P1145S;ENSP00000367096:P1145S;ENSP00000401699:P1111S;ENSP00000332060:P1111S	ENSP00000332060:P1111S	P	-	1	0	PCDH9	65777069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CCT		0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		82	27	0	0	0	1	0	82	27				
DENND1C	79958	broad.mit.edu	37	19	6476963	6476963	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:6476963G>A	ENST00000381480.2	-	10	695	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Silent_p.L151L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	195	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCACCACCAGCTCCGTTAGG	0.642																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(583-585)Ctg>Ttg		DENN/MADD domain containing 1C							35.0	41.0	39.0					19																	6476963		1990	4164	6154	SO:0001819	synonymous_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6476963G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.583C>T	19.37:g.6476963G>A						DENND1C_ENST00000543576.1_Silent_p.L151L	p.L195L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			10	695	-			195			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	ENST00000381480.2	37	c.583C>T	CCDS45938.1																																																																																				0.642	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		30	37	0	0	0	1	0	30	37				
PCDHGA5	56110	broad.mit.edu	37	5	140745446	140745446	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140745446C>T	ENST00000518069.1	+	1	1549	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTATGCTCTGAGATCCTT	0.547																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1549-1551)Ctg>Ttg									171.0	189.0	183.0					5																	140745446		2188	4295	6483	SO:0001819	synonymous_variant	56110							g.chr5:140745446C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1549C>T	5.37:g.140745446C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L517L	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1549	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1549C>T	CCDS54925.1																																																																																				0.547	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		66	163	0	0	0	1	0	66	163				
MKRN3	7681	broad.mit.edu	37	15	23812438	23812438	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23812438C>T	ENST00000314520.3	+	1	1985	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	503					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGAATATTTCAATTTGATTC	0.458																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1507-1509)ttC>ttT		makorin ring finger protein 3							108.0	104.0	106.0					15																	23812438		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812438C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1509C>T	15.37:g.23812438C>T						MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron	p.F503F	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1985	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	503						Silent	SNP	ENST00000314520.3	37	c.1509C>T	CCDS10013.1																																																																																				0.458	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		21	115	0	0	0	1	0	21	115				
DCTN5	84516	broad.mit.edu	37	16	23678400	23678400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:23678400C>T	ENST00000300087.2	+	6	635	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	CTD-2196E14.9_ENST00000566996.1_lincRNA|DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	162					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GGAGTGCACTCAGGAGCTGAT	0.493																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(484-486)Cag>Tag		dynactin 5 (p25)							96.0	90.0	92.0					16																	23678400		2197	4300	6497	SO:0001587	stop_gained	84516					centrosome	transferase activity	g.chr16:23678400C>T		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.484C>T	16.37:g.23678400C>T	ENSP00000300087:p.Gln162*					DCTN5_ENST00000563998.1_3'UTR	p.Q162*	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	635	+			162					A8K9X8|H3BN51|H3BQA4	Nonsense_Mutation	SNP	ENST00000300087.2	37	c.484C>T	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.269712	0.97431	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-13.5166	17.8145	0.88627	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000300087:Q162X	Q	+	1	0	DCTN5	23585901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.809000	0.96659	0.655000	0.94253	CAG		0.493	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		16	77	0	0	0	1	0	16	77				
LRRIQ1	84125	broad.mit.edu	37	12	85450284	85450284	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:85450284G>A	ENST00000393217.2	+	8	1774	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	571										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAATGAAGAGCAGAAAATAA	0.284																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1711-1713)gaG>gaA		leucine-rich repeats and IQ motif containing 1							38.0	42.0	41.0					12																	85450284		2196	4279	6475	SO:0001819	synonymous_variant	84125							g.chr12:85450284G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1713G>A	12.37:g.85450284G>A							p.E571E	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1774	+			571					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1713G>A	CCDS41816.1																																																																																				0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		6	13	0	0	0	1	0	6	13				
KIF4B	285643	broad.mit.edu	37	5	154396403	154396403	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396403T>C	ENST00000435029.4	+	1	3144	c.2984T>C	c.(2983-2985)aTc>aCc	p.I995T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	995	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGAAACTGATCCTCCTCCAG	0.433																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2983-2985)aTc>aCc		kinesin family member 4B							158.0	161.0	160.0					5																	154396403		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396403T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2984T>C	5.37:g.154396403T>C	ENSP00000387875:p.Ile995Thr						p.I995T	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3144	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	995			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2984T>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.608151	0.00007	.	.	ENSG00000226650	ENST00000435029	T	0.65364	-0.15	1.55	-2.32	0.06745	.	.	.	.	.	T	0.21103	0.0508	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	9	0.12766	T	0.61	.	2.8969	0.05693	0.2125:0.4664:0.0:0.3211	.	995	Q2VIQ3	KIF4B_HUMAN	T	995	ENSP00000387875:I995T	ENSP00000387875:I995T	I	+	2	0	KIF4B	154376596	0.625000	0.27111	0.411000	0.26484	0.104000	0.19210	0.086000	0.14935	-0.720000	0.04935	-0.237000	0.12165	ATC		0.433	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			37	157	0	0	0	1	0	37	157				
ZNF668	79759	broad.mit.edu	37	16	31075256	31075256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31075256C>G	ENST00000538906.1	-	2	1309	c.525G>C	c.(523-525)aaG>aaC	p.K175N	ZNF668_ENST00000394983.2_Missense_Mutation_p.K175N|ZNF668_ENST00000300849.4_Missense_Mutation_p.K175N|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.K198N|ZNF668_ENST00000426488.2_Missense_Mutation_p.K198N|ZNF668_ENST00000535577.1_Missense_Mutation_p.K175N	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGCAAAGCTCTTGCCGCAGT	0.652																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(523-525)aaG>aaC		zinc finger protein 668							25.0	23.0	23.0					16																	31075256		2196	4299	6495	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075256C>G		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.525G>C	16.37:g.31075256C>G	ENSP00000440149:p.Lys175Asn					ZNF668_ENST00000300849.4_Missense_Mutation_p.K175N|ZNF668_ENST00000535577.1_Missense_Mutation_p.K175N|ZNF668_ENST00000539836.3_Missense_Mutation_p.K198N|ZNF668_ENST00000394983.2_Missense_Mutation_p.K175N|ZNF668_ENST00000426488.2_Missense_Mutation_p.K198N	p.K175N	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1309	-			175					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.525G>C	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711874	0.89112	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.06	5.06	0.68205	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.75150	2.29	0.48901	D	0.999728	D	0.89917	1.0	D	0.78314	0.991	T	0.55224	-0.8174	10	0.72032	D	0.01	-36.1206	10.8689	0.46872	0.0:0.9129:0.0:0.0871	.	175	Q96K58	ZN668_HUMAN	N	198;175;175;175;175	ENSP00000442573:K198N;ENSP00000441349:K175N;ENSP00000440149:K175N;ENSP00000378434:K175N;ENSP00000300849:K175N	ENSP00000300849:K175N	K	-	3	2	ZNF668	30982757	0.979000	0.34478	1.000000	0.80357	0.873000	0.50193	0.926000	0.28804	2.634000	0.89283	0.555000	0.69702	AAG		0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		8	16	0	0	0	1	0	8	16				
OBSCN	84033	broad.mit.edu	37	1	228565248	228565248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228565248C>T	ENST00000422127.1	+	102	23382	c.23338C>T	c.(23338-23340)Cag>Tag	p.Q7780*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q5414*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q8737*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7780	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTGCCACCCAGTACCTGCA	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(26209-26211)Cag>Tag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							80.0	82.0	81.0					1																	228565248		2183	4275	6458	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228565248C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23338C>T	1.37:g.228565248C>T	ENSP00000409493:p.Gln7780*					OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q5414*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q7780*	p.Q8737*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			113	26283	+		Prostate(94;0.0405)	7780					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.26209C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	65|65	87.294172|87.294172	0.99996|0.99996	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	5.14|5.14	3.2|3.2	0.36748|0.36748	.|.	.|.	.|.	.|.	.|.	T|.	0.56381|.	0.1981|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51482|.	-0.8700|.	4|.	.|0.32370	.|T	.|0.25	.|.	8.0355|8.0355	0.30491|0.30491	0.0:0.4996:0.398:0.1024|0.0:0.4996:0.398:0.1024	.|.	.|.	.|.	.|.	L|X	2396|7780;5414	.|.	.|ENSP00000355668:Q5414X	P|Q	+|+	2|1	0|0	OBSCN|OBSCN	226631871|226631871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.029000|0.029000	0.11900|0.11900	5.888000|5.888000	0.69758|0.69758	1.173000|1.173000	0.42796|0.42796	0.313000|0.313000	0.20887|0.20887	CCA|CAG		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		10	32	0	0	0	1	0	10	32				
KLK1	3816	broad.mit.edu	37	19	51325104	51325104	+	Missense_Mutation	SNP	G	G	A	rs149251777		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:51325104G>A	ENST00000301420.2	-	2	105	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	KLK1_ENST00000448701.2_5'UTR|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	24						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	CCCACAATCCGGGACTGAATC	0.652																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(70-72)Cgg>Tgg		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	TRP/ARG	0,4406		0,0,2203	34.0	33.0	33.0		70	2.2	0.3	19	dbSNP_134	33	1,8599		0,1,4299	no	missense	KLK1	NM_002257.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	24/263	51325104	1,13005	2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51325104G>A	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.70C>T	19.37:g.51325104G>A	ENSP00000301420:p.Arg24Trp					KLK1_ENST00000448701.2_5'UTR	p.R24W	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	2	105	-		all_neural(266;0.0199)	24					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.70C>T	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	N	19.45	3.829379	0.71258	0.0	1.16E-4	ENSG00000167748	ENST00000301420	D	0.91740	-2.9	4.41	2.21	0.28008	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.96284	0.8788	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94184	0.7434	9	0.87932	D	0	.	5.6239	0.17473	0.1057:0.0:0.6984:0.196	.	24	P06870	KLK1_HUMAN	W	24	ENSP00000301420:R24W	ENSP00000301420:R24W	R	-	1	2	KLK1	56016916	0.904000	0.30761	0.323000	0.25347	0.013000	0.08279	1.334000	0.33827	0.541000	0.28827	0.561000	0.74099	CGG		0.652	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		12	29	0	0	0	1	0	12	29				
SLC22A8	9376	broad.mit.edu	37	11	62763267	62763267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62763267C>T	ENST00000336232.2	-	7	1045	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SLC22A8_ENST00000545207.1_Missense_Mutation_p.E213K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E304K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.E304K|SLC22A8_ENST00000535878.1_Missense_Mutation_p.E181K|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	304					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAGGAGATCTCCTTCTGCAGG	0.592																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(910-912)Gag>Aag		solute carrier family 22 (organic anion transporter), member 8							143.0	133.0	137.0					11																	62763267		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62763267C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.910G>A	11.37:g.62763267C>T	ENSP00000337335:p.Glu304Lys					SLC22A8_ENST00000535878.1_Missense_Mutation_p.E181K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E213K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.E304K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E304K	p.E304K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			7	1045	-			304					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.910G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681399	0.88542	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.793551	0.11631	N	0.544800	D	0.83018	0.5163	M	0.62088	1.915	0.39188	D	0.962906	P;P	0.51449	0.932;0.945	P;P	0.59825	0.786;0.864	T	0.82872	-0.0242	10	0.72032	D	0.01	.	13.97	0.64233	0.0:1.0:0.0:0.0	.	304;304	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	304;290;213;181;304;304	ENSP00000337335:E304K;ENSP00000441658:E213K;ENSP00000443368:E181K;ENSP00000311463:E304K;ENSP00000398548:E304K	ENSP00000311463:E304K	E	-	1	0	SLC22A8	62519843	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	4.608000	0.61141	2.341000	0.79615	0.455000	0.32223	GAG		0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		37	133	0	0	0	1	0	37	133				
FBXL12	54850	broad.mit.edu	37	19	9921884	9921884	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9921884G>A	ENST00000247977.4	-	3	910	c.669C>T	c.(667-669)atC>atT	p.I223I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.I170I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.I170I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	223					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGTGGCGGCTGATGGCCAGCA	0.672																																						ENST00000247977.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(667-669)atC>atT		F-box and leucine-rich repeat protein 12							24.0	26.0	25.0					19																	9921884		2203	4299	6502	SO:0001819	synonymous_variant	54850						protein binding	g.chr19:9921884G>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.669C>T	19.37:g.9921884G>A						FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.I170I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.I170I	p.I223I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN			3	910	-			223					B3KSJ8|Q9H5K4	Silent	SNP	ENST00000247977.4	37	c.669C>T	CCDS12218.1																																																																																				0.672	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		17	42	0	0	0	1	0	17	42				
LINC00477	144360	broad.mit.edu	37	12	24736326	24736326	+	lincRNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:24736326C>T	ENST00000483544.1	-	0	776					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											AGAAGGGTGTCAGCACCCTTT	0.547																																						ENST00000483544.1																			0																																																			144360							g.chr12:24736326C>T	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736326C>T								NR_029451.2						0	776	-									RNA	SNP	ENST00000483544.1	37																																																																																						0.547	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		11	28	0	0	0	1	0	11	28				
ERGIC3	51614	broad.mit.edu	37	20	34144782	34144782	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:34144782G>C	ENST00000348547.2	+	11	995	c.918G>C	c.(916-918)gaG>gaC	p.E306D	ERGIC3_ENST00000279052.6_Missense_Mutation_p.E311D|ERGIC3_ENST00000447986.1_Missense_Mutation_p.E321D|ERGIC3_ENST00000357394.4_Missense_Mutation_p.E311D	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	306					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E311E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCAGACATGAGAAGGTTGCCA	0.597																																						ENST00000348547.2																			1	Substitution - coding silent(1)	p.E311E(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(916-918)gaG>gaC		ERGIC and golgi 3							67.0	56.0	60.0					20																	34144782		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34144782G>C	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.918G>C	20.37:g.34144782G>C	ENSP00000341358:p.Glu306Asp					ERGIC3_ENST00000279052.6_Missense_Mutation_p.E311D|ERGIC3_ENST00000447986.1_Missense_Mutation_p.E321D|ERGIC3_ENST00000357394.4_Missense_Mutation_p.E311D	p.E306D	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		11	995	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		306					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.918G>C	CCDS13257.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.55|17.55|17.55	3.416379|3.416379|3.416379	0.62511|0.62511|0.62511	.|.|.	.|.|.	ENSG00000125991|ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000355563|ENST00000413587;ENST00000451605|ENST00000416206;ENST00000442139	T;T;T;T|T|.	0.46451|0.46819|.	0.88;0.87;0.89;0.87|0.86|.	5.36|5.36|5.36	4.41|4.41|4.41	0.53225|0.53225|0.53225	Domain of unknown function DUF1692 (1);|.|.	0.095769|0.095769|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	T|T|T	0.38374|0.38374|0.38374	0.1038|0.1038|0.1038	N|N|N	0.16037|0.16037|0.16037	0.36|0.36|0.36	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	P;P;P|.|.	0.44344|.|.	0.605;0.833;0.696|.|.	P;P;B|.|.	0.46685|.|.	0.524;0.524;0.257|.|.	T|T|T	0.16482|0.16482|0.16482	-1.0401|-1.0401|-1.0401	10|8|5	0.21540|0.14252|.	T|T|.	0.41|0.57|.	-8.8752|-8.8752|-8.8752	9.8594|9.8594|9.8594	0.41105|0.41105|0.41105	0.1657:0.0:0.8343:0.0|0.1657:0.0:0.8343:0.0|0.1657:0.0:0.8343:0.0	.|.|.	321;306;311|.|.	E9PFA8;Q9Y282;Q9Y282-3|.|.	.;ERGI3_HUMAN;.|.|.	D|Q|T	306;311;321;311;169|308;53|320;96	ENSP00000341358:E306D;ENSP00000349970:E311D;ENSP00000392341:E321D;ENSP00000279052:E311D|ENSP00000402480:E308Q|.	ENSP00000279052:E311D|ENSP00000402480:E308Q|.	E|E|R	+|+|+	3|1|2	2|0|0	ERGIC3|ERGIC3|ERGIC3	33608196|33608196|33608196	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	3.407000|3.407000|3.407000	0.52644|0.52644|0.52644	1.259000|1.259000|1.259000	0.44117|0.44117|0.44117	0.637000|0.637000|0.637000	0.83480|0.83480|0.83480	GAG|GAA|AGA		0.597	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		16	24	0	0	0	1	0	16	24				
KPNA3	3839	broad.mit.edu	37	13	50296663	50296663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:50296663G>A	ENST00000261667.3	-	8	920	c.506C>T	c.(505-507)cCa>cTa	p.P169L		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	169	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ATTCTGATGTGGTGAACGAAG	0.333																																						ENST00000261667.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21						c.(505-507)cCa>cTa		karyopherin alpha 3 (importin alpha 4)							69.0	68.0	68.0					13																	50296663		2203	4300	6503	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50296663G>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.506C>T	13.37:g.50296663G>A	ENSP00000261667:p.Pro169Leu						p.P169L	NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	8	920	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	169			NLS binding site (major) (By similarity).		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.506C>T	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040506	0.55003	.	.	ENSG00000102753	ENST00000261667	T	0.36157	1.27	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.047237	0.85682	D	0.000000	T	0.48021	0.1477	M	0.90542	3.125	0.80722	D	1	B	0.10296	0.003	B	0.19148	0.024	T	0.53351	-0.8451	10	0.66056	D	0.02	-11.2544	12.809	0.57629	0.0753:0.0:0.9247:0.0	.	169	O00505	IMA3_HUMAN	L	169	ENSP00000261667:P169L	ENSP00000261667:P169L	P	-	2	0	KPNA3	49194664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.008000	0.88588	2.682000	0.91365	0.591000	0.81541	CCA		0.333	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		22	14	0	0	0	1	0	22	14				
CUL3	8452	broad.mit.edu	37	2	225379491	225379491	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:225379491T>C	ENST00000264414.4	-	4	717		c.e4-2		CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000432260.2_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409777.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CACACGGTCCTACAGTTAAAG	0.308																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.e4-2		cullin 3							85.0	74.0	78.0					2																	225379491		2202	4299	6501	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225379491T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.379-2A>G	2.37:g.225379491T>C						CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000432260.2_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site		NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	717	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)						A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37		CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373445	0.82573	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777;ENST00000436172	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225087735	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	.		0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	10	18	0	0	0	1	0	10	18				
RNLS	55328	broad.mit.edu	37	10	90122397	90122397	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:90122397C>T	ENST00000331772.4	-	5	634	c.612G>A	c.(610-612)acG>acA	p.T204T	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.T121T|RNLS_ENST00000371947.3_Silent_p.T204T	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	204					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CATCAATCTTCGTACCAGCTT	0.468																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(610-612)acG>acA		renalase, FAD-dependent amine oxidase							138.0	128.0	131.0					10																	90122397		2203	4300	6503	SO:0001819	synonymous_variant	55328					extracellular region	oxidoreductase activity	g.chr10:90122397C>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.612G>A	10.37:g.90122397C>T						RNLS_ENST00000331772.4_Silent_p.T204T|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.T121T	p.T204T	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	1951	-			204					Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	37	c.612G>A	CCDS31239.1																																																																																				0.468	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		10	41	0	0	0	1	0	10	41				
CELF6	60677	broad.mit.edu	37	15	72579719	72579719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:72579719C>T	ENST00000569547.1	-	12	1404	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000287202.5_Missense_Mutation_p.D445N|CELF6_ENST00000543764.2_Missense_Mutation_p.D308N|CELF6_ENST00000395258.2_Missense_Mutation_p.D332N|CELF6_ENST00000539635.1_Missense_Mutation_p.D306N|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.D418N			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	445	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GTTGGATTGTCAAAACTAACA	0.537																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(1333-1335)Gac>Aac		CUGBP, Elav-like family member 6							88.0	86.0	87.0					15																	72579719		2199	4297	6496	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72579719C>T	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1333G>A	15.37:g.72579719C>T	ENSP00000454749:p.Asp445Asn					CELF6_ENST00000539635.1_Missense_Mutation_p.D306N|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.D418N|CELF6_ENST00000543764.2_Missense_Mutation_p.D308N|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.D332N	p.D445N	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			12	1587	-			445			RRM 3.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	c.1333G>A	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377851	0.82682	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.29684	0.0741	N	0.16862	0.45	0.80722	D	1	D;D;B;B;D	0.89917	1.0;0.974;0.09;0.009;0.999	D;D;B;B;D	0.91635	0.999;0.992;0.249;0.146;0.998	T	0.10177	-1.0641	10	0.87932	D	0	-21.9675	19.0668	0.93114	0.0:1.0:0.0:0.0	.	418;308;332;306;445	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	N	445;418;308;269;332;306	ENSP00000287202:D445N;ENSP00000439956:D308N;ENSP00000378677:D332N;ENSP00000443162:D306N	ENSP00000287202:D445N	D	-	1	0	CELF6	70366773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.757000	0.94681	0.462000	0.41574	GAC		0.537	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		20	54	0	0	0	1	0	20	54				
TMEFF1	8577	broad.mit.edu	37	9	103279035	103279035	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:103279035A>C	ENST00000374879.4	+	5	974	c.542A>C	c.(541-543)gAa>gCa	p.E181A	MSANTD3-TMEFF1_ENST00000502978.1_Nonstop_Mutation_p.*144C|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E142A	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	181					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GAGTGTGATGAAGATGCAGAA	0.383																																						ENST00000502978.1																			0											c.(430-432)tgA>tgC									126.0	107.0	114.0					9																	103279035		2203	4300	6503	SO:0001583	missense	100526694				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103279035A>C	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.542A>C	9.37:g.103279035A>C	ENSP00000364013:p.Glu181Ala					TMEFF1_ENST00000374879.4_Missense_Mutation_p.E181A|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E142A	p.*144C	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN			5	432	+			0			Kazal-like 1.		Q13086|Q8N3T8	Nonstop_Mutation	SNP	ENST00000374879.4	37	c.432A>C	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.70|17.70	3.454254|3.454254	0.63290|0.63290	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.28666|.	1.6;1.6|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55862|.	0.1947|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;D|.	0.71674|.	0.952;0.998|.	P;D|.	0.64042|.	0.813;0.921|.	T|.	0.52480|.	-0.8570|.	10|.	0.31617|.	T|.	0.26|.	-12.1755|-12.1755	14.076|14.076	0.64891|0.64891	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	181;142|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	A|C	142;181|144	ENSP00000334447:E142A;ENSP00000364013:E181A|.	ENSP00000334447:E142A|.	E|X	+|+	2|3	0|0	TMEFF1|C9orf30-TMEFF1	102318856|102318856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	7.575000|7.575000	0.82447|0.82447	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	GAA|TGA		0.383	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		21	47	0	0	0	1	0	21	47				
SNHG23	100507242	broad.mit.edu	37	14	101421722	101421722	+	lincRNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:101421722C>T	ENST00000556637.1	+	0	399				SNORD114-5_ENST00000362928.1_RNA|SNORD114-3_ENST00000364969.1_RNA|SNORD113_ENST00000363280.1_RNA|SNORD114-6_ENST00000364393.1_RNA|SNORD114-4_ENST00000363962.1_RNA																							TGATGATGACCACTGGTGGCC	0.398																																						ENST00000556637.1																			0																				102.0	96.0	98.0					14																	101421722		876	1991	2867			100507242							g.chr14:101421722C>T																													14.37:g.101421722C>T						SNORD114-5_ENST00000362928.1_RNA								0	399	+									RNA	SNP	ENST00000556637.1	37																																																																																						0.398	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			20	69	0	0	0	1	0	20	69				
SVIL	6840	broad.mit.edu	37	10	29775131	29775131	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:29775131G>C	ENST00000355867.4	-	26	5414	c.4662C>G	c.(4660-4662)ctC>ctG	p.L1554L	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Silent_p.L468L|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Silent_p.L1554L|SVIL_ENST00000538146.1_Silent_p.L346L|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1128L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1554	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGCTTCATAGAGTTCATCTT	0.423																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4660-4662)ctC>ctG		supervillin							78.0	75.0	76.0					10																	29775131		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775131G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4662C>G	10.37:g.29775131G>C						PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1128L|SVIL_ENST00000538146.1_Silent_p.L346L|SVIL_ENST00000355867.4_Silent_p.L1554L|SVIL_ENST00000535393.1_Silent_p.L468L	p.L1554L			O95425	SVIL_HUMAN			28	5111	-		Breast(68;0.103)	1554			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.4662C>G	CCDS7164.1																																																																																				0.423	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			6	105	0	0	0	1	0	6	105				
JUNB	3726	broad.mit.edu	37	19	12903302	12903302	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903302C>T	ENST00000302754.4	+	1	993	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	239					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCTCCACCTTCAAGGAGGAAC	0.706																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(715-717)ttC>ttT		jun B proto-oncogene							4.0	6.0	6.0					19																	12903302		1994	4000	5994	SO:0001819	synonymous_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903302C>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.717C>T	19.37:g.12903302C>T							p.F239F	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	993	+			239					Q96GH3	Silent	SNP	ENST00000302754.4	37	c.717C>T	CCDS12280.1																																																																																				0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		5	12	0	0	0	1	0	5	12				
SLC4A4	8671	broad.mit.edu	37	4	72205057	72205057	+	Intron	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:72205057T>A	ENST00000264485.5	+	4	370				SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_Intron|SLC4A4_ENST00000340595.3_Missense_Mutation_p.M31K|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M31K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTCCAGCCAATGTTTAACCAC	0.537																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(91-93)aTg>aAg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							216.0	236.0	229.0					4																	72205057		2203	4300	6503	SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72205057T>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.254-30T>A	4.37:g.72205057T>A						SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_Intron|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M31K	p.M31K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		1	288	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.92T>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.862092	0.32884	.	.	ENSG00000080493	ENST00000512686;ENST00000340595	T;T	0.76186	0.16;-1.0	5.49	5.49	0.81192	.	.	.	.	.	T	0.49592	0.1566	.	.	.	0.80722	D	1	B;B	0.14805	0.0;0.011	B;B	0.15870	0.0;0.014	T	0.46345	-0.9198	8	0.06236	T	0.91	.	6.7323	0.23390	0.0:0.1317:0.0:0.8683	.	31;31	Q9Y6R1-2;Q9Y6R1-3	.;.	K	31	ENSP00000422400:M31K;ENSP00000344272:M31K	ENSP00000344272:M31K	M	+	2	0	SLC4A4	72423921	0.999000	0.42202	0.906000	0.35671	0.941000	0.58515	4.405000	0.59741	2.074000	0.62210	0.482000	0.46254	ATG		0.537	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		84	226	0	0	0	1	0	84	226				
PITPNC1	26207	broad.mit.edu	37	17	65671646	65671646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65671646G>C	ENST00000581322.1	+	8	670	c.670G>C	c.(670-672)Gat>Cat	p.D224H	PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224H|PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224H|PITPNC1_ENST00000580974.1_Missense_Mutation_p.D224H			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	224					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCATGGGTTGATGAGTGGTA	0.398																																						ENST00000580974.1																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(670-672)Gat>Cat		phosphatidylinositol transfer protein, cytoplasmic 1							199.0	186.0	190.0					17																	65671646		1914	4121	6035	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65671646G>C	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.670G>C	17.37:g.65671646G>C	ENSP00000464006:p.Asp224His					PITPNC1_ENST00000581322.1_Missense_Mutation_p.D224H|PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224H|PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224H	p.D224H	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		8	1366	+	all_cancers(12;3.03e-10)		224					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.670G>C	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011205	0.54361	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.62105	0.05;0.05	5.77	5.77	0.91146	START-like domain (1);	0.041588	0.85682	D	0.000000	D	0.86381	0.5919	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89677	0.3888	10	0.87932	D	0	-3.6583	19.9933	0.97376	0.0:0.0:1.0:0.0	.	224;224	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	H	224	ENSP00000335618:D224H;ENSP00000299954:D224H	ENSP00000299954:D224H	D	+	1	0	PITPNC1	63102108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.710000	0.98732	2.744000	0.94065	0.542000	0.68232	GAT		0.398	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		31	138	0	0	0	1	0	31	138				
MEPE	56955	broad.mit.edu	37	4	88767090	88767090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:88767090G>A	ENST00000424957.3	+	4	1143	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	MEPE_ENST00000560249.1_Missense_Mutation_p.R244K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.R357K|MEPE_ENST00000540395.1_Missense_Mutation_p.R244K|MEPE_ENST00000497649.2_Missense_Mutation_p.R333K|MEPE_ENST00000395102.4_Missense_Mutation_p.R388K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	357					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAGGAAACAGAGTGGATGCT	0.478																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(997-999)aGa>aAa		matrix extracellular phosphoglycoprotein							41.0	40.0	40.0					4																	88767090		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767090G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1070G>A	4.37:g.88767090G>A	ENSP00000416984:p.Arg357Lys					MEPE_ENST00000560249.1_Missense_Mutation_p.R244K|MEPE_ENST00000395102.4_Missense_Mutation_p.R388K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.R357K|MEPE_ENST00000540395.1_Missense_Mutation_p.R244K|MEPE_ENST00000361056.3_Missense_Mutation_p.R357K	p.R333K			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1376	+		Hepatocellular(203;0.114)	357					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.998G>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.388930	0.61956	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.99	3.23	0.37069	.	0.559058	0.16625	N	0.206340	T	0.50497	0.1619	M	0.83953	2.67	0.26162	N	0.979993	D	0.53885	0.963	P	0.48454	0.578	T	0.49688	-0.8913	10	0.62326	D	0.03	-10.4364	7.5285	0.27668	0.1955:0.0:0.8045:0.0	.	357	Q9NQ76	MEPE_HUMAN	K	357;388;333;244;357	ENSP00000416984:R357K;ENSP00000378534:R388K;ENSP00000422747:R333K;ENSP00000443491:R244K;ENSP00000354341:R357K	ENSP00000354341:R357K	R	+	2	0	MEPE	88986114	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	2.044000	0.41241	1.334000	0.45468	0.655000	0.94253	AGA		0.478	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			8	44	0	0	0	1	0	8	44				
IGFL4	444882	broad.mit.edu	37	19	46543472	46543472	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:46543472C>T	ENST00000377697.1	-	3	326	c.273G>A	c.(271-273)aaG>aaA	p.K91K	IGFL4_ENST00000595006.1_5'Flank|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	91						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGCCTGGGACCTTGAACCTCA	0.597																																						ENST00000377697.1																			0				cervix(1)|kidney(1)|lung(1)	3						c.(271-273)aaG>aaA		IGF-like family member 4							92.0	91.0	91.0					19																	46543472		2203	4300	6503	SO:0001819	synonymous_variant	444882					extracellular region		g.chr19:46543472C>T	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.273G>A	19.37:g.46543472C>T						IGFL4_ENST00000601672.1_5'UTR	p.K91K	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	326	-		all_neural(266;0.113)|Ovarian(192;0.127)	91						Silent	SNP	ENST00000377697.1	37	c.273G>A	CCDS33057.1																																																																																				0.597	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		28	108	0	0	0	1	0	28	108				
ZNF774	342132	broad.mit.edu	37	15	90904219	90904219	+	Missense_Mutation	SNP	G	G	A	rs530118133		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:90904219G>A	ENST00000354377.3	+	4	1342	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGATTCGCCGACAGCTCCGC	0.493													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16921	0.0		0.0	False		,,,				2504	0.0					ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(1156-1158)Gac>Aac		zinc finger protein 774							76.0	71.0	73.0					15																	90904219		2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904219G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1156G>A	15.37:g.90904219G>A	ENSP00000346348:p.Asp386Asn					ZNF774_ENST00000379090.5_Intron	p.D386N	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1342	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		386					A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1156G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840522	0.32513	.	.	ENSG00000196391	ENST00000354377	T	0.53857	0.6	5.51	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002012	T	0.25717	0.0626	N	0.04203	-0.255	0.18873	N	0.999981	B	0.31837	0.342	B	0.26693	0.072	T	0.12760	-1.0535	10	0.40728	T	0.16	.	8.4163	0.32672	0.0:0.2917:0.5483:0.16	.	386	Q6NX45	ZN774_HUMAN	N	386	ENSP00000346348:D386N	ENSP00000346348:D386N	D	+	1	0	ZNF774	88705223	0.000000	0.05858	0.042000	0.18584	0.193000	0.23685	-0.542000	0.06091	1.286000	0.44565	0.561000	0.74099	GAC		0.493	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		22	68	0	0	0	1	0	22	68				
DDB1	1642	broad.mit.edu	37	11	61069779	61069779	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:61069779C>T	ENST00000301764.7	-	25	3562	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	DDB1_ENST00000538470.1_Silent_p.Q102Q|DDB1_ENST00000451943.2_Silent_p.Q42Q|DDB1_ENST00000450997.2_Silent_p.Q366Q	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1055	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGTCGATTCTGCATGTCCA	0.532								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3163-3165)caG>caA	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							237.0	198.0	211.0					11																	61069779		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61069779C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3165G>A	11.37:g.61069779C>T						DDB1_ENST00000538470.1_Silent_p.Q102Q|DDB1_ENST00000451943.2_Silent_p.Q42Q|DDB1_ENST00000450997.2_Silent_p.Q366Q	p.Q1055Q	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			25	3562	-			1055			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3165G>A	CCDS31576.1																																																																																				0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		28	111	0	0	0	1	0	28	111				
STOML1	9399	broad.mit.edu	37	15	74277772	74277772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:74277772G>A	ENST00000316900.5	-	5	801	c.677C>T	c.(676-678)cCc>cTc	p.P226L	STOML1_ENST00000564777.1_Missense_Mutation_p.P176L|STOML1_ENST00000359750.4_Missense_Mutation_p.P226L|STOML1_ENST00000541638.1_Missense_Mutation_p.P184L|STOML1_ENST00000561656.1_Missense_Mutation_p.P139L|STOML1_ENST00000316911.6_Missense_Mutation_p.P176L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	226						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCTGTCCTGGGGCGGCTGGAG	0.667																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(676-678)cCc>cTc		stomatin (EPB72)-like 1							16.0	14.0	15.0					15																	74277772		2189	4284	6473	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74277772G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.677C>T	15.37:g.74277772G>A	ENSP00000319323:p.Pro226Leu					STOML1_ENST00000564777.1_Missense_Mutation_p.P176L|STOML1_ENST00000359750.4_Missense_Mutation_p.P226L|STOML1_ENST00000541638.1_Missense_Mutation_p.P184L|STOML1_ENST00000316911.6_Missense_Mutation_p.P176L|STOML1_ENST00000561656.1_Missense_Mutation_p.P139L	p.P226L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			5	801	-			226					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.677C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296341	0.81025	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.97791	-3.16;-2.63;-3.14;-4.54	5.22	5.22	0.72569	.	0.102800	0.64402	D	0.000002	D	0.98223	0.9412	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.955;0.995;0.955;0.993;0.996	D	0.97845	1.0271	10	0.27785	T	0.31	-27.4	15.5331	0.75980	0.0:0.0:1.0:0.0	.	184;226;176;226;226;226	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	L	226;176;184;226	ENSP00000319323:P226L;ENSP00000319384:P176L;ENSP00000442478:P184L;ENSP00000352788:P226L	ENSP00000319323:P226L	P	-	2	0	STOML1	72064825	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	6.800000	0.75165	2.432000	0.82394	0.655000	0.94253	CCC		0.667	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		5	6	0	0	0	1	0	5	6				
NAALADL2	254827	broad.mit.edu	37	3	174951857	174951857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:174951857C>T	ENST00000454872.1	+	3	810	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	228						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGGCCCTTCTCCCAGCACTGT	0.473																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(682-684)Ccc>Tcc		N-acetylated alpha-linked acidic dipeptidase-like 2							111.0	107.0	108.0					3																	174951857		1974	4158	6132	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951857C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.682C>T	3.37:g.174951857C>T	ENSP00000404705:p.Pro228Ser					NAALADL2_ENST00000473253.1_3'UTR	p.P228S	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	810	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	228					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.682C>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090816	0.07053	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.41758	0.99	5.57	4.7	0.59300	.	0.387908	0.22202	N	0.063233	T	0.43322	0.1242	M	0.66939	2.045	0.29084	N	0.882523	P;B	0.35139	0.486;0.349	B;B	0.41510	0.359;0.086	T	0.36187	-0.9758	10	0.13470	T	0.59	-5.0563	10.2607	0.43425	0.0:0.7744:0.1463:0.0793	.	211;228	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	S	228;35	ENSP00000404705:P228S	ENSP00000314951:P35S	P	+	1	0	NAALADL2	176434551	1.000000	0.71417	0.906000	0.35671	0.561000	0.35649	2.330000	0.43885	1.363000	0.46019	0.650000	0.86243	CCC		0.473	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		21	178	0	0	0	1	0	21	178				
KIFC3	3801	broad.mit.edu	37	16	57796128	57796128	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:57796128C>T	ENST00000379655.4	-	13	1929	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	KIFC3_ENST00000543930.1_Missense_Mutation_p.E416K|KIFC3_ENST00000539578.1_Missense_Mutation_p.E500K|KIFC3_ENST00000465878.2_Missense_Mutation_p.E419K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E419K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E558K|KIFC3_ENST00000541240.1_Missense_Mutation_p.E580K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E419K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E456K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	558	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCCTGCACCTCGGAGAAGAGC	0.627																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1672-1674)Gag>Aag		kinesin family member C3							39.0	37.0	38.0					16																	57796128		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57796128C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1672G>A	16.37:g.57796128C>T	ENSP00000368976:p.Glu558Lys					KIFC3_ENST00000465878.2_Missense_Mutation_p.E419K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E558K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E419K|KIFC3_ENST00000543930.1_Missense_Mutation_p.E416K|KIFC3_ENST00000539578.1_Missense_Mutation_p.E500K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E419K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E456K|KIFC3_ENST00000541240.1_Missense_Mutation_p.E580K	p.E558K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			13	1929	-		all_neural(199;0.224)	558			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1672G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	33	5.284145	0.95517	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.56	4.56	0.56223	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	N	0.10629	0.01	0.80722	D	1	P;D;P;B;B;P;P	0.54047	0.949;0.964;0.831;0.122;0.418;0.949;0.938	P;B;B;B;B;P;B	0.47603	0.551;0.296;0.218;0.018;0.044;0.551;0.442	T	0.70421	-0.4876	10	0.51188	T	0.08	.	15.9375	0.79723	0.0:1.0:0.0:0.0	.	580;500;416;456;263;558;419	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	K	558;558;419;580;456;416;500	ENSP00000368976:E558K;ENSP00000401696:E558K;ENSP00000396399:E419K;ENSP00000442008:E580K;ENSP00000438805:E456K;ENSP00000444012:E416K;ENSP00000444884:E500K	ENSP00000368976:E558K	E	-	1	0	KIFC3	56353629	1.000000	0.71417	0.925000	0.36789	0.973000	0.67179	7.783000	0.85696	2.092000	0.63282	0.591000	0.81541	GAG		0.627	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		11	4	0	0	0	1	0	11	4				
CASP8	841	broad.mit.edu	37	2	202136242	202136242	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202136242C>A	ENST00000432109.2	+	4	498	c.309C>A	c.(307-309)gtC>gtA	p.V103V	CASP8_ENST00000392266.3_Silent_p.V103V|CASP8_ENST00000392259.2_Silent_p.V103V|CASP8_ENST00000358485.4_Silent_p.V162V|CASP8_ENST00000392258.3_Silent_p.V103V|CASP8_ENST00000323492.7_Silent_p.V103V|CASP8_ENST00000264275.5_Silent_p.V135V|CASP8_ENST00000264274.9_Silent_p.V103V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	103	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACCACAGGGTCATGCTCTATC	0.403										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(484-486)gtC>gtA		caspase 8, apoptosis-related cysteine peptidase							116.0	116.0	116.0					2																	202136242		2203	4300	6503	SO:0001819	synonymous_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202136242C>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.309C>A	2.37:g.202136242C>A		HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Silent_p.V103V|CASP8_ENST00000264275.5_Silent_p.V135V|CASP8_ENST00000323492.7_Silent_p.V103V|CASP8_ENST00000432109.2_Silent_p.V103V|CASP8_ENST00000392259.2_Silent_p.V103V|CASP8_ENST00000392258.3_Silent_p.V103V|CASP8_ENST00000392266.3_Silent_p.V103V	p.V162V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	682	+			103			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	c.486C>A	CCDS2342.1																																																																																				0.403	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		50	55	1	0	3.76525e-18	1	4.11031e-18	50	55				
RPL13	6137	broad.mit.edu	37	16	89627382	89627382	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:89627382G>C	ENST00000393099.3	+	1	264	c.15G>C	c.(13-15)cgG>cgC	p.R5R	SNORD68_ENST00000363214.1_RNA|RPL13_ENST00000567815.1_Silent_p.R5R|RPL13_ENST00000452368.3_Silent_p.R5R|RPL13_ENST00000311528.5_Silent_p.R5R	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGCCCAGCCGGAATGGCATGG	0.726																																						ENST00000393099.3																			0				lung(3)|skin(1)|upper_aerodigestive_tract(2)	6						c.(13-15)cgG>cgC		ribosomal protein L13							13.0	14.0	14.0					16																	89627382		2171	4240	6411	SO:0001819	synonymous_variant	6137				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr16:89627382G>C	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"""L ribosomal proteins"""	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.15G>C	16.37:g.89627382G>C						RPL13_ENST00000567815.1_Silent_p.R5R|RPL13_ENST00000311528.5_Silent_p.R5R|RPL13_ENST00000452368.3_Silent_p.R5R	p.R5R	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)	1	264	+		all_hematologic(23;0.0748)	5					B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	c.15G>C	CCDS10979.1																																																																																				0.726	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		18	12	0	0	0	1	0	18	12				
ZBED9	114821	broad.mit.edu	37	6	28543539	28543539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:28543539G>A	ENST00000452236.2	-	3	1560	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGCTGAGATGTGTATTATGC	0.383																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(943-945)Cat>Tat		SCAN domain containing 3							281.0	243.0	256.0					6																	28543539		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543539G>A																												ENST00000452236.2:c.943C>T	6.37:g.28543539G>A	ENSP00000395259:p.His315Tyr						p.H315Y	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1560	-			315						Missense_Mutation	SNP	ENST00000452236.2	37	c.943C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997662	0.54147	.	.	ENSG00000232040	ENST00000452236	T	0.02890	4.12	3.44	3.44	0.39384	.	.	.	.	.	T	0.06325	0.0163	M	0.76574	2.34	0.26097	N	0.980878	D	0.57899	0.981	D	0.65140	0.932	T	0.08269	-1.0730	9	0.87932	D	0	.	10.6113	0.45423	0.0:0.0:1.0:0.0	.	315	Q6R2W3	SCND3_HUMAN	Y	315	ENSP00000395259:H315Y	ENSP00000395259:H315Y	H	-	1	0	SCAND3	28651518	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	2.034000	0.41145	1.930000	0.55929	0.650000	0.86243	CAT		0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			81	45	0	0	0	1	0	81	45				
EDEM3	80267	broad.mit.edu	37	1	184723709	184723709	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:184723709C>T	ENST00000318130.8	-	1	338	c.72G>A	c.(70-72)gcG>gcA	p.A24A	EDEM3_ENST00000367512.3_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	24					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACGCGGCCGTCGCCGCCACTA	0.716																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(70-72)gcG>gcA		ER degradation enhancer, mannosidase alpha-like 3							7.0	12.0	11.0					1																	184723709		672	1562	2234	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184723709C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.72G>A	1.37:g.184723709C>T							p.A24A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			1	338	-			24					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.72G>A	CCDS1363.2																																																																																				0.716	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		29	13	0	0	0	1	0	29	13				
SCIN	85477	broad.mit.edu	37	7	12662468	12662468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:12662468G>A	ENST00000297029.5	+	5	810	c.709G>A	c.(709-711)Gat>Aat	p.D237N	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_De_novo_Start_OutOfFrame|SCIN_ENST00000519209.1_De_novo_Start_OutOfFrame	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	237	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGTGATGATGATGACATTAT	0.403																																						ENST00000519209.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17								scinderin							189.0	186.0	187.0					7																	12662468		1911	4137	6048	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12662468G>A	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.709G>A	7.37:g.12662468G>A	ENSP00000297029:p.Asp237Asn					SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000297029.5_Missense_Mutation_p.D237N|SCIN_ENST00000445618.2_De_novo_Start_OutOfFrame		NM_033128.3	NP_149119.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	0	334	+								A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Translation_Start_Site	SNP	ENST00000297029.5	37		CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256189	0.80246	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000518849	T;T;T	0.63913	-0.07;2.23;2.23	6.07	6.07	0.98685	.	0.253029	0.43919	N	0.000518	T	0.67373	0.2886	M	0.75085	2.285	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.63107	-0.6711	10	0.62326	D	0.03	-14.3953	20.6525	0.99598	0.0:0.0:1.0:0.0	.	237	Q9Y6U3	ADSV_HUMAN	N	237;78;78	ENSP00000297029:D237N;ENSP00000429598:D78N;ENSP00000428555:D78N	ENSP00000297029:D237N	D	+	1	0	SCIN	12628993	1.000000	0.71417	0.788000	0.31933	0.307000	0.27823	9.357000	0.97099	2.890000	0.99128	0.585000	0.79938	GAT		0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		41	133	0	0	0	1	0	41	133				
DLG2	1740	broad.mit.edu	37	11	83984277	83984277	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:83984277G>T	ENST00000418306.2	-	1	46	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	DLG2_ENST00000330014.6_5'Flank|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376106.3_5'Flank|DLG2_ENST00000531015.1_Silent_p.R8R|DLG2_ENST00000537455.1_5'Flank|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001142700.1	NP_001136172.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTCTCAGCCCGAGAAACACTT	0.378																																						ENST00000418306.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(22-24)Cgg>Agg		discs, large homolog 2 (Drosophila)							33.0	33.0	33.0					11																	83984277		1568	3580	5148	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83984277G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000418306.2:c.22C>A	11.37:g.83984277G>T						DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000531015.1_Silent_p.R8R|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000280241.8_Intron	p.R8R	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN			1	46	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000418306.2	37	c.22C>A	CCDS44691.1																																																																																				0.378	DLG2-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393436.1	NM_001364		2	1	1	0	0.004672	1	0.0047304	2	1				
ZNF174	7727	broad.mit.edu	37	16	3452266	3452266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:3452266C>A	ENST00000268655.4	+	1	847	c.262C>A	c.(262-264)Ctt>Att	p.L88I	ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.L88I|ZSCAN32_ENST00000573830.1_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.L88I|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.L88I|ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000575752.1_Missense_Mutation_p.L88I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	88	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATTTTGGAGCTTCTGGTGAT	0.587																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(262-264)Ctt>Att		zinc finger protein 174							64.0	66.0	65.0					16																	3452266		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452266C>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.262C>A	16.37:g.3452266C>A	ENSP00000268655:p.Leu88Ile					ZNF174_ENST00000575752.1_Missense_Mutation_p.L88I|ZNF174_ENST00000572544.1_Missense_Mutation_p.L88I|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.L88I|ZNF174_ENST00000344823.5_Missense_Mutation_p.L88I	p.L88I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	847	+			88			SCAN box.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.262C>A	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201108	0.79015	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.07444	3.19;3.19	4.5	3.55	0.40652	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.40302	N	0.001130	T	0.30572	0.0769	M	0.88640	2.97	0.32645	N	0.520206	D;D;D	0.71674	0.997;0.998;0.995	D;D;D	0.83275	0.992;0.996;0.949	T	0.48658	-0.9016	10	0.87932	D	0	.	8.9098	0.35546	0.0:0.8997:0.0:0.1003	.	88;88;88	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	I	88	ENSP00000339781:L88I;ENSP00000268655:L88I	ENSP00000268655:L88I	L	+	1	0	ZNF174	3392267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.889000	0.39718	1.496000	0.48567	0.655000	0.94253	CTT		0.587	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		31	108	1	0	4.74835e-14	1	5.11458e-14	31	108				
KIF4B	285643	broad.mit.edu	37	5	154396820	154396820	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396820A>G	ENST00000435029.4	+	1	3561	c.3401A>G	c.(3400-3402)cAg>cGg	p.Q1134R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1134	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGTTGAACAGACCCAGGAT	0.542																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3400-3402)cAg>cGg		kinesin family member 4B							145.0	134.0	138.0					5																	154396820		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396820A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3401A>G	5.37:g.154396820A>G	ENSP00000387875:p.Gln1134Arg						p.Q1134R	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3561	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1134			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3401A>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.905416	0.00057	.	.	ENSG00000226650	ENST00000435029	T	0.67698	-0.28	1.48	-1.77	0.07982	.	.	.	.	.	T	0.35364	0.0929	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	9	0.10111	T	0.7	.	5.1461	0.14985	0.6277:0.0:0.3723:0.0	.	1134	Q2VIQ3	KIF4B_HUMAN	R	1134	ENSP00000387875:Q1134R	ENSP00000387875:Q1134R	Q	+	2	0	KIF4B	154377013	0.004000	0.15560	0.029000	0.17559	0.120000	0.20174	-0.344000	0.07780	-0.625000	0.05604	-0.230000	0.12252	CAG		0.542	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			22	60	0	0	0	1	0	22	60				
CFTR	1080	broad.mit.edu	37	7	117176710	117176710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:117176710G>A	ENST00000003084.6	+	7	984	c.852G>A	c.(850-852)atG>atA	p.M284I	CFTR_ENST00000454343.1_Missense_Mutation_p.M284I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	284	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGAAAAAATGATTGAAAACT	0.318									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(850-852)atG>atA		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						82.0	83.0	83.0					7																	117176710		2203	4299	6502	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117176710G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.852G>A	7.37:g.117176710G>A	ENSP00000003084:p.Met284Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.M284I	p.M284I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		7	984	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		284			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.852G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	5.679	0.309810	0.10733	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89343	-2.5;-2.5;-2.5	5.1	-0.184	0.13280	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.283503	0.46758	N	0.000276	T	0.70456	0.3226	N	0.11927	0.2	0.37625	D	0.92144	B	0.02656	0.0	B	0.09377	0.004	T	0.50233	-0.8852	10	0.16896	T	0.51	-3.7776	1.896	0.03257	0.3591:0.1204:0.3969:0.1236	.	284	P13569	CFTR_HUMAN	I	284;284;254	ENSP00000003084:M284I;ENSP00000403677:M284I;ENSP00000389119:M254I	ENSP00000003084:M284I	M	+	3	0	CFTR	116963946	0.980000	0.34600	0.992000	0.48379	0.997000	0.91878	0.180000	0.16860	-0.262000	0.09392	0.655000	0.94253	ATG		0.318	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		11	9	0	0	0	1	0	11	9				
TAF4	6874	broad.mit.edu	37	20	60578314	60578314	+	Silent	SNP	G	G	A	rs147530592		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:60578314G>A	ENST00000252996.4	-	9	2387	c.2388C>T	c.(2386-2388)ccC>ccT	p.P796P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	796					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTAACACGGCGGGTTTCACCA	0.493																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2386-2388)ccC>ccT		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa		G		1,4405	2.1+/-5.4	0,1,2202	92.0	86.0	88.0		2388	-0.3	0.0	20	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	TAF4	NM_003185.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		796/1086	60578314	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60578314G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2388C>T	20.37:g.60578314G>A						TAF4_ENST00000488539.1_5'UTR	p.P796P	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		9	2387	-	Breast(26;1e-08)		796					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2388C>T	CCDS33500.1																																																																																				0.493	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		25	49	0	0	0	1	0	25	49				
ATP2A3	489	broad.mit.edu	37	17	3850986	3850986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:3850986G>A	ENST00000352011.3	-	8	848	c.794C>T	c.(793-795)tCt>tTt	p.S265F	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000309890.7_Missense_Mutation_p.S265F|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S265F			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	265					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGATCACAGAGATGGCGTG	0.657																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(793-795)tCt>tTt		ATPase, Ca++ transporting, ubiquitous							30.0	31.0	31.0					17																	3850986		2202	4295	6497	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850986G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.794C>T	17.37:g.3850986G>A	ENSP00000301387:p.Ser265Phe					ATP2A3_ENST00000397035.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397039.1_5'UTR	p.S265F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	944	-			265					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.794C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782292	0.49891	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	3.92	3.92	0.45320	ATPase, P-type, ATPase-associated domain (1);	0.062950	0.64402	D	0.000003	T	0.73877	0.3643	N	0.03224	-0.385	0.80722	D	1	B;B;B;B;B;B	0.26363	0.02;0.069;0.147;0.121;0.121;0.121	B;B;B;B;B;B	0.25759	0.008;0.041;0.063;0.059;0.059;0.041	T	0.72883	-0.4157	10	0.49607	T	0.09	.	9.3361	0.38051	0.1114:0.0:0.8886:0.0	.	265;265;265;265;265;265	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	F	265	ENSP00000380236:S265F;ENSP00000301387:S265F;ENSP00000353072:S265F;ENSP00000380234:S265F;ENSP00000312577:S265F;ENSP00000380229:S265F	ENSP00000312577:S265F	S	-	2	0	ATP2A3	3797735	1.000000	0.71417	0.978000	0.43139	0.932000	0.56968	6.458000	0.73509	2.449000	0.82847	0.591000	0.81541	TCT		0.657	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		17	33	0	0	0	1	0	17	33				
VPS54	51542	broad.mit.edu	37	2	64174526	64174526	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:64174526G>A	ENST00000272322.4	-	9	1390	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	VPS54_ENST00000409558.4_Silent_p.I400I|VPS54_ENST00000354504.3_Intron			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	412					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTGTTTAATGATATTCTTTG	0.244																																						ENST00000272322.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1234-1236)atC>atT		vacuolar protein sorting 54 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64174526G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1236C>T	2.37:g.64174526G>A						VPS54_ENST00000409558.3_Silent_p.I400I|VPS54_ENST00000354504.3_Intron	p.I412I	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN			9	1390	-			412					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.1236C>T	CCDS33208.1																																																																																				0.244	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		6	14	0	0	0	1	0	6	14				
PRLHR	2834	broad.mit.edu	37	10	120354659	120354659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:120354659G>A	ENST00000369169.1	-	1	97	c.98C>T	c.(97-99)tCg>tTg	p.S33L	PRLHR_ENST00000239032.2_Missense_Mutation_p.S33L			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	33					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTTGCCCGCCGAGGCCTCTGC	0.677																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(97-99)tCg>tTg		prolactin releasing hormone receptor							23.0	31.0	28.0					10																	120354659		2191	4274	6465	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354659G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.98C>T	10.37:g.120354659G>A	ENSP00000358167:p.Ser33Leu					PRLHR_ENST00000369169.1_Missense_Mutation_p.S33L	p.S33L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	236	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	33					O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.98C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972083	0.34754	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.62364	0.03;0.03	4.54	2.64	0.31445	.	1.354910	0.04725	N	0.420107	T	0.40272	0.1110	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	10	0.10111	T	0.7	.	7.7905	0.29116	0.2044:0.0:0.7956:0.0	.	33	P49683	PRLHR_HUMAN	L	33	ENSP00000239032:S33L;ENSP00000358167:S33L	ENSP00000239032:S33L	S	-	2	0	PRLHR	120344649	0.105000	0.21958	0.001000	0.08648	0.015000	0.08874	2.922000	0.48860	0.528000	0.28580	-0.156000	0.13503	TCG		0.677	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		29	54	0	0	0	1	0	29	54				
WDR62	284403	broad.mit.edu	37	19	36583698	36583698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:36583698G>A	ENST00000270301.7	+	19	2318	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	WDR62_ENST00000401500.2_Missense_Mutation_p.R773Q			O43379	WDR62_HUMAN	WD repeat domain 62	773					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACAAGAAGCGGAGTGGCCAC	0.622																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2317-2319)cGg>cAg		WD repeat domain 62							65.0	68.0	67.0					19																	36583698		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36583698G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2318G>A	19.37:g.36583698G>A	ENSP00000270301:p.Arg773Gln					WDR62_ENST00000270301.7_Missense_Mutation_p.R773Q	p.R773Q	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2353	+	Esophageal squamous(110;0.162)		773					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2318G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173071	0.01646	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.41758	0.99;0.99	5.01	3.97	0.46021	.	1.297190	0.05186	N	0.502237	T	0.25382	0.0617	N	0.08118	0	0.20196	N	0.999925	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.21075	-1.0256	10	0.11794	T	0.64	-4.5034	10.3988	0.44218	0.1692:0.0:0.8308:0.0	.	773;773	O43379-4;O43379	.;WDR62_HUMAN	Q	773	ENSP00000384792:R773Q;ENSP00000270301:R773Q	ENSP00000270301:R773Q	R	+	2	0	WDR62	41275538	.	.	0.066000	0.19879	0.000000	0.00434	.	.	0.719000	0.32188	-0.797000	0.03246	CGG		0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		70	158	0	0	0	1	0	70	158				
TLDC1	57707	broad.mit.edu	37	16	84520527	84520527	+	Missense_Mutation	SNP	G	G	A	rs199722035		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:84520527G>A	ENST00000343629.6	-	5	850	c.668C>T	c.(667-669)tCg>tTg	p.S223L	TLDC1_ENST00000535580.1_Missense_Mutation_p.S196L|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	223						lysosomal membrane (GO:0005765)											ATCAAGAGACGAGCACAGGAT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		21051	0.001		0.0	False		,,,				2504	0.0					ENST00000343629.6																			0											c.(667-669)tCg>tTg		TBC/LysM-associated domain containing 1		G	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	60.0	54.0	56.0		668	0.4	0.0	16		56	0,8600		0,0,4300	no	missense	KIAA1609	NM_020947.3	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	223/457	84520527	1,12999	2200	4300	6500	SO:0001583	missense	57707							g.chr16:84520527G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.668C>T	16.37:g.84520527G>A	ENSP00000343635:p.Ser223Leu					TLDC1_ENST00000535580.1_Missense_Mutation_p.S196L	p.S223L	NM_020947.3	NP_065998.3					5	850	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.668C>T	CCDS32498.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.888	-0.024480	0.07589	2.27E-4	0.0	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.10763	3.01;2.84	4.75	0.359	0.16088	.	1.077340	0.07174	N	0.852866	T	0.08582	0.0213	L	0.45137	1.4	0.09310	N	1	B;B	0.25007	0.116;0.088	B;B	0.19391	0.025;0.007	T	0.40776	-0.9545	10	0.38643	T	0.18	0.0666	1.7585	0.02987	0.212:0.1377:0.5092:0.1411	.	196;223	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	223;196	ENSP00000343635:S223L;ENSP00000441997:S196L	ENSP00000343635:S223L	S	-	2	0	KIAA1609	83078028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.296000	0.19083	-0.183000	0.10585	0.557000	0.71058	TCG		0.552	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		54	27	0	0	0	1	0	54	27				
LCA5	167691	broad.mit.edu	37	6	80223093	80223093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:80223093C>T	ENST00000392959.1	-	4	1167	c.556G>A	c.(556-558)Gag>Aag	p.E186K	LCA5_ENST00000369846.4_Missense_Mutation_p.E186K|LCA5_ENST00000467898.3_Missense_Mutation_p.E186K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	186					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCCTTTTCTCAGTTGCCCGT	0.363																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(556-558)Gag>Aag		Leber congenital amaurosis 5							161.0	156.0	157.0					6																	80223093		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223093C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.556G>A	6.37:g.80223093C>T	ENSP00000376686:p.Glu186Lys					LCA5_ENST00000369846.4_Missense_Mutation_p.E186K|LCA5_ENST00000467898.2_Missense_Mutation_p.E186K	p.E186K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1167	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	186					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.556G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995102	0.93167	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.78364	-1.17;-1.17	6.07	6.07	0.98685	.	0.057054	0.64402	D	0.000002	D	0.85779	0.5776	M	0.66939	2.045	0.58432	D	0.999998	P;D	0.76494	0.909;0.999	P;D	0.71656	0.701;0.974	D	0.85604	0.1254	10	0.72032	D	0.01	-17.5312	19.6475	0.95784	0.0:1.0:0.0:0.0	.	186;186	B4DRL2;Q86VQ0	.;LCA5_HUMAN	K	186	ENSP00000358861:E186K;ENSP00000376686:E186K	ENSP00000358861:E186K	E	-	1	0	LCA5	80279812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.195000	0.72088	2.885000	0.99019	0.655000	0.94253	GAG		0.363	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		6	33	0	0	0	1	0	6	33				
MAGOH	4116	broad.mit.edu	37	1	53694620	53694620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:53694620C>T	ENST00000371470.3	-	4	426	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	MAGOH_ENST00000371466.4_Missense_Mutation_p.E52K	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	89					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGACGATTTCAAGCTCCTAG	0.333																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(265-267)Gaa>Aaa		mago-nashi homolog, proliferation-associated (Drosophila)							99.0	92.0	94.0					1																	53694620		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53694620C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.265G>A	1.37:g.53694620C>T	ENSP00000360525:p.Glu89Lys					MAGOH_ENST00000371466.4_Missense_Mutation_p.E52K	p.E89K	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			4	426	-			89					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.265G>A	CCDS577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197681	0.94997	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.971;0.988	D	0.92451	0.5970	9	0.66056	D	0.02	-10.9114	19.3291	0.94278	0.0:1.0:0.0:0.0	.	52;89	B1ARP8;P61326	.;MGN_HUMAN	K	89;52	.	ENSP00000360521:E52K	E	-	1	0	MAGOH	53467208	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.358000	0.79466	2.582000	0.87167	0.655000	0.94253	GAA		0.333	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		11	37	0	0	0	1	0	11	37				
NUP210L	91181	broad.mit.edu	37	1	153982539	153982539	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982539G>T	ENST00000368559.3	-	35	4910	c.4839C>A	c.(4837-4839)ctC>ctA	p.L1613L	NUP210L_ENST00000368553.1_Silent_p.L546L|NUP210L_ENST00000271854.3_Silent_p.L1613L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1613					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCACAGCATGAGGGTCGCTG	0.418																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4837-4839)ctC>ctA		nucleoporin 210kDa-like							146.0	138.0	140.0					1																	153982539		1862	4105	5967	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153982539G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4839C>A	1.37:g.153982539G>T						NUP210L_ENST00000368553.1_Silent_p.L546L|NUP210L_ENST00000271854.3_Silent_p.L1613L	p.L1613L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		35	4910	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1613					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4839C>A	CCDS41399.1																																																																																				0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		48	67	1	0	1.32667e-27	1	1.4761e-27	48	67				
BCCIP	56647	broad.mit.edu	37	10	127512149	127512149	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:127512149G>T	ENST00000278100.6	+	1	35	c.23G>T	c.(22-24)cGt>cTt	p.R8L	UROS_ENST00000368797.4_5'Flank|UROS_ENST00000368774.1_5'Flank|BCCIP_ENST00000429863.2_Missense_Mutation_p.R8L|UROS_ENST00000368778.3_5'Flank|BCCIP_ENST00000299130.3_Missense_Mutation_p.R8L|BCCIP_ENST00000368759.5_Missense_Mutation_p.R8L	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTAAGCGGCGTGCCGTGGAA	0.612																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(22-24)cGt>cTt		BRCA2 and CDKN1A interacting protein							109.0	113.0	112.0					10																	127512149		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512149G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.23G>T	10.37:g.127512149G>T	ENSP00000278100:p.Arg8Leu					BCCIP_ENST00000429863.2_Missense_Mutation_p.R8L|BCCIP_ENST00000278100.6_Missense_Mutation_p.R8L|BCCIP_ENST00000368759.5_Missense_Mutation_p.R8L	p.R8L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			1	35	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	8					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.23G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853531	0.71719	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.78;0.68;0.62;0.69	5.05	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	N	0.08118	0	0.09310	N	0.999998	D;D;D;D;P	0.63046	0.986;0.986;0.992;0.992;0.791	P;P;P;P;B	0.58820	0.705;0.705;0.846;0.846;0.301	T	0.17899	-1.0354	10	0.66056	D	0.02	-3.0262	7.616	0.28158	0.1941:0.0:0.8059:0.0	.	8;8;8;8;8	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	L	8	ENSP00000278100:R8L;ENSP00000299130:R8L;ENSP00000357748:R8L;ENSP00000394758:R8L	ENSP00000278100:R8L	R	+	2	0	BCCIP	127502139	0.999000	0.42202	0.001000	0.08648	0.004000	0.04260	4.517000	0.60503	0.551000	0.29008	0.561000	0.74099	CGT		0.612	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			43	110	1	0	7.05377e-20	1	7.76298e-20	43	110				
GBA2	57704	broad.mit.edu	37	9	35736716	35736716	+	IGR	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:35736716C>G	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Nonsense_Mutation_p.S370*|CREB3_ENST00000486056.1_3'UTR|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAGATACTCAGGCTAGATA	0.582											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1108-1110)tCa>tGa		cAMP responsive element binding protein 3							86.0	89.0	88.0					9																	35736716		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736716C>G	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736716C>G			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.S370*	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1547	+	all_epithelial(49;0.167)		394			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Nonsense_Mutation	SNP	ENST00000378103.3	37	c.1109C>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796045	0.90453	.	.	ENSG00000107175	ENST00000353704	.	.	.	5.53	4.63	0.57726	.	0.837661	0.10229	N	0.699969	.	.	.	.	.	.	0.36813	D	0.885988	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.5284	0.44963	0.0:0.9104:0.0:0.0896	.	.	.	.	X	370	.	ENSP00000342136:S370X	S	+	2	0	CREB3	35726716	0.104000	0.21937	0.858000	0.33744	0.130000	0.20726	0.425000	0.21346	1.457000	0.47850	0.650000	0.86243	TCA		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		57	112	0	0	0	1	0	57	112				
PPEF2	5470	broad.mit.edu	37	4	76797791	76797791	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:76797791C>T	ENST00000286719.7	-	11	1325	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	323	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCTTCTCACTCTTCTGTCTCG	0.512																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(967-969)aaG>aaA		protein phosphatase, EF-hand calcium binding domain 2							99.0	101.0	100.0					4																	76797791		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797791C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.969G>A	4.37:g.76797791C>T							p.K323K	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1325	-			323			Catalytic.		O14831	Silent	SNP	ENST00000286719.7	37	c.969G>A	CCDS34013.1																																																																																				0.512	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		5	51	0	0	0	1	0	5	51				
CERS4	79603	broad.mit.edu	37	19	8319401	8319401	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8319401G>A	ENST00000251363.5	+	4	492	c.192G>A	c.(190-192)ctG>ctA	p.L64L	CERS4_ENST00000559450.1_Silent_p.L64L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Silent_p.L13L|CERS4_ENST00000559336.1_Silent_p.L64L	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	64					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCTGCCCCTGAGCCGGTGGC	0.617																																						ENST00000558331.1																			0											c.(37-39)ctG>ctA		ceramide synthase 4							80.0	60.0	67.0					19																	8319401		2203	4300	6503	SO:0001819	synonymous_variant	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8319401G>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.192G>A	19.37:g.8319401G>A						CERS4_ENST00000251363.5_Silent_p.L64L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Silent_p.L64L|CERS4_ENST00000559336.1_Silent_p.L64L	p.L13L			Q9HA82	CERS4_HUMAN			4	498	+			64					D6W665	Silent	SNP	ENST00000251363.5	37	c.39G>A	CCDS12197.1																																																																																				0.617	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		13	43	0	0	0	1	0	13	43				
ZNF266	10781	broad.mit.edu	37	19	9525388	9525388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9525388G>T	ENST00000592904.1	-	5	2289	c.213C>A	c.(211-213)agC>agA	p.S71R	ZNF266_ENST00000361151.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361451.2_Missense_Mutation_p.S71R|ZNF266_ENST00000590306.1_Missense_Mutation_p.S71R|ZNF266_ENST00000592292.1_Missense_Mutation_p.S71R|ZNF266_ENST00000588221.1_Missense_Mutation_p.S71R|ZNF266_ENST00000588933.1_Missense_Mutation_p.S71R			Q14584	ZN266_HUMAN	zinc finger protein 266	71					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)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTCCGTTGTGGCTTCCTATCT	0.408																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(211-213)agC>agA		zinc finger protein 266							100.0	78.0	85.0					19																	9525388		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525388G>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.213C>A	19.37:g.9525388G>T	ENSP00000466714:p.Ser71Arg					ZNF266_ENST00000588933.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361451.2_Missense_Mutation_p.S71R|ZNF266_ENST00000592292.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361151.1_Missense_Mutation_p.S71R|ZNF266_ENST00000590306.1_Missense_Mutation_p.S71R|ZNF266_ENST00000588221.1_Missense_Mutation_p.S71R	p.S71R			Q14584	ZN266_HUMAN			5	2289	-			71					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.213C>A	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	3.723	-0.057142	0.07317	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.15256	2.44;2.44	2.33	1.26	0.21427	.	.	.	.	.	T	0.08582	0.0213	N	0.25286	0.73	0.19775	N	0.99996	P	0.50617	0.937	B	0.37198	0.243	T	0.23833	-1.0177	9	0.56958	D	0.05	.	3.6875	0.08334	0.1523:0.2643:0.5834:0.0	.	71	Q14584	ZN266_HUMAN	R	71	ENSP00000354680:S71R;ENSP00000355047:S71R	ENSP00000355047:S71R	S	-	3	2	ZNF266	9386388	0.000000	0.05858	0.022000	0.16811	0.082000	0.17680	-0.263000	0.08670	0.544000	0.28883	0.449000	0.29647	AGC		0.408	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			43	56	1	0	3.66854e-30	1	4.10431e-30	43	56				
SMTN	6525	broad.mit.edu	37	22	31484061	31484061	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:31484061C>T	ENST00000347557.2	+	3	380	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SMTN_ENST00000333137.7_Silent_p.F54F|SMTN_ENST00000358743.1_Silent_p.F54F|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	54					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAAGCGTTTCCGTGCCGAGC	0.652																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(160-162)ttC>ttT		smoothelin							31.0	32.0	32.0					22																	31484061		2201	4300	6501	SO:0001819	synonymous_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484061C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.162C>T	22.37:g.31484061C>T						SMTN_ENST00000358743.1_Silent_p.F54F|SMTN_ENST00000347557.2_Silent_p.F54F|SMTN_ENST00000475548.1_3'UTR	p.F54F	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			3	380	+			54					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	37	c.162C>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367616	0.24771	.	.	ENSG00000183963	ENST00000438223	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.63343	0.2503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61642	-0.7021	4	.	.	.	-18.0162	11.7358	0.51765	0.0:0.919:0.0:0.081	.	.	.	.	S	109	.	.	P	+	1	0	SMTN	29814061	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.053000	0.49901	2.401000	0.81631	0.655000	0.94253	CCG		0.652	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		10	47	0	0	0	1	0	10	47				
DDR2	4921	broad.mit.edu	37	1	162731134	162731134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:162731134G>C	ENST00000367922.3	+	10	1427	c.989G>C	c.(988-990)aGt>aCt	p.S330T	DDR2_ENST00000367921.3_Missense_Mutation_p.S330T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	330					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GTCAACCCCAGTGCTCGGTTT	0.512																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(988-990)aGt>aCt		discoidin domain receptor tyrosine kinase 2							179.0	123.0	142.0					1																	162731134		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162731134G>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.989G>C	1.37:g.162731134G>C	ENSP00000356899:p.Ser330Thr					DDR2_ENST00000367921.3_Missense_Mutation_p.S330T	p.S330T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		10	1427	+	all_hematologic(112;0.115)		330					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.989G>C	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038933	0.55003	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.55052	0.54;0.54	5.89	5.89	0.94794	.	0.037303	0.85682	D	0.000000	T	0.38108	0.1028	L	0.58583	1.82	0.34505	D	0.706466	B	0.23058	0.079	B	0.19946	0.027	T	0.22173	-1.0224	9	0.24483	T	0.36	.	18.8112	0.92058	0.0:0.0:1.0:0.0	.	330	Q16832	DDR2_HUMAN	T	330	ENSP00000356899:S330T;ENSP00000356898:S330T	ENSP00000356898:S330T	S	+	2	0	DDR2	160997758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.203000	0.77864	2.763000	0.94921	0.655000	0.94253	AGT		0.512	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		10	44	0	0	0	1	0	10	44				
RFC4	5984	broad.mit.edu	37	3	186507997	186507997	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:186507997G>C	ENST00000392481.2	-	10	1211	c.930C>G	c.(928-930)ctC>ctG	p.L310L	RFC4_ENST00000433496.1_Silent_p.L283L|RFC4_ENST00000296273.2_Silent_p.L310L|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	310					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACATCATGGAGTTGATTGA	0.343																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(928-930)ctC>ctG		replication factor C (activator 1) 4, 37kDa							123.0	120.0	121.0					3																	186507997		2203	4300	6503	SO:0001819	synonymous_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186507997G>C		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.930C>G	3.37:g.186507997G>C						RFC4_ENST00000296273.2_Silent_p.L310L|RFC4_ENST00000433496.1_Silent_p.L283L	p.L310L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	10	1211	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		310					B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	c.930C>G	CCDS3283.1																																																																																				0.343	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		50	92	0	0	0	1	0	50	92				
NPEPL1	79716	broad.mit.edu	37	20	57269534	57269534	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:57269534C>T	ENST00000356091.6	+	3	681	c.393C>T	c.(391-393)ttC>ttT	p.F131F	NPEPL1_ENST00000525967.1_Silent_p.F103F|NPEPL1_ENST00000525817.1_Silent_p.F83F|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	131						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCCGGGCCTTCCCGCTGTTCA	0.657																																						ENST00000356091.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(391-393)ttC>ttT		aminopeptidase-like 1							58.0	64.0	62.0					20																	57269534		2010	4170	6180	SO:0001819	synonymous_variant	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57269534C>T	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.393C>T	20.37:g.57269534C>T						STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.F83F|NPEPL1_ENST00000525967.1_Silent_p.F103F	p.F131F	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		3	681	+	all_lung(29;0.0175)		131					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	37	c.393C>T	CCDS46621.1																																																																																				0.657	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		40	88	0	0	0	1	0	40	88				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	0	0	0	1	0	4	6				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	50	0	0	0	1	0	3	50				
TUT1	64852	broad.mit.edu	37	11	62343619	62343619	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62343619C>T	ENST00000476907.1	-	9	2263	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Silent_p.G562G|EEF1G_ENST00000378019.3_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	524	PAP-associated.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCAGGCCCCCTGCCACAG	0.602																																						ENST00000476907.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1570-1572)ggG>ggA		terminal uridylyl transferase 1, U6 snRNA-specific							17.0	20.0	19.0					11																	62343619		2199	4293	6492	SO:0001819	synonymous_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343619C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1572G>A	11.37:g.62343619C>T						MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Silent_p.G562G	p.G524G			Q9H6E5	STPAP_HUMAN			9	2263	-			524			PAP-associated.		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.1572G>A																																																																																					0.602	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		5	39	0	0	0	1	0	5	39				
CITED1	4435	broad.mit.edu	37	X	71521739	71521739	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:71521739G>T	ENST00000246139.5	-	3	991	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	CITED1_ENST00000373619.3_Missense_Mutation_p.S139Y|CITED1_ENST00000431381.1_Missense_Mutation_p.S165Y|CITED1_ENST00000445983.1_Missense_Mutation_p.S139Y	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	139					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					GGCACCAGCAGAAGGAGAGAG	0.627																																						ENST00000246139.5																			0				skin(1)	1						c.(415-417)tCt>tAt		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1							66.0	59.0	61.0					X																	71521739		2203	4300	6503	SO:0001583	missense	4435				apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chrX:71521739G>T	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.416C>A	X.37:g.71521739G>T	ENSP00000246139:p.Ser139Tyr					CITED1_ENST00000431381.1_Missense_Mutation_p.S165Y|CITED1_ENST00000445983.1_Missense_Mutation_p.S139Y|CITED1_ENST00000373619.3_Missense_Mutation_p.S139Y	p.S139Y	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN			3	991	-	Renal(35;0.156)		139					B5BU50|B5BUI2	Missense_Mutation	SNP	ENST00000246139.5	37	c.416C>A	CCDS14419.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.528057	0.00959	.	.	ENSG00000125931	ENST00000453707;ENST00000431381;ENST00000445983;ENST00000373619;ENST00000246139;ENST00000417400	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.66	4.66	0.58398	.	0.653442	0.14647	N	0.306823	T	0.58148	0.2102	L	0.36672	1.1	0.09310	N	1	B;B	0.32467	0.372;0.225	B;B	0.39805	0.206;0.31	T	0.56655	-0.7943	10	0.56958	D	0.05	0.4957	12.4193	0.55512	0.0:0.0:1.0:0.0	.	165;139	Q99966-2;Q99966	.;CITE1_HUMAN	Y	165;165;139;139;139;139	ENSP00000401764:S165Y;ENSP00000388548:S165Y;ENSP00000403274:S139Y;ENSP00000362721:S139Y;ENSP00000246139:S139Y;ENSP00000414781:S139Y	ENSP00000246139:S139Y	S	-	2	0	CITED1	71438464	0.567000	0.26626	0.005000	0.12908	0.349000	0.29174	3.592000	0.53993	2.070000	0.61991	0.600000	0.82982	TCT		0.627	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057181.1	NM_004143		24	21	1	0	1.96895e-08	1	2.0875e-08	24	21				
SPHKAP	80309	broad.mit.edu	37	2	228881360	228881360	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:228881360C>G	ENST00000392056.3	-	7	4256	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1404						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E1404Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGAAGTTTCTTTTTTAGAA	0.448																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.E1404Q(2)	kidney(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4210-4212)Gaa>Caa		SPHK1 interactor, AKAP domain containing							88.0	93.0	91.0					2																	228881360		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881360C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4210G>C	2.37:g.228881360C>G	ENSP00000375909:p.Glu1404Gln					SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4256	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1404					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4210G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906120	0.52333	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.92	3.04	0.35103	.	0.568918	0.20288	N	0.095305	T	0.33118	0.0852	M	0.76574	2.34	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.994;0.999	T	0.06972	-1.0797	10	0.33141	T	0.24	.	10.4321	0.44413	0.0:0.6793:0.2513:0.0694	.	435;1404;1404	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1404	ENSP00000375909:E1404Q;ENSP00000339886:E1404Q	ENSP00000339886:E1404Q	E	-	1	0	SPHKAP	228589604	0.451000	0.25705	0.022000	0.16811	0.075000	0.17131	1.187000	0.32090	0.819000	0.34492	0.655000	0.94253	GAA		0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		27	108	0	0	0	1	0	27	108				
RPS6KB1	6198	broad.mit.edu	37	17	57970560	57970560	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57970560G>A	ENST00000225577.4	+	1	36	c.15G>A	c.(13-15)agG>agA	p.R5R	TUBD1_ENST00000346141.6_5'Flank|TUBD1_ENST00000394239.3_5'Flank|TUBD1_ENST00000539018.1_5'Flank|RPS6KB1_ENST00000393021.3_5'Flank|RPS6KB1_ENST00000443572.2_Silent_p.R5R|TUBD1_ENST00000376094.4_5'Flank|RPS6KB1_ENST00000406116.3_Silent_p.R5R|TUBD1_ENST00000592426.1_5'Flank|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000325752.3_5'Flank|TUBD1_ENST00000340993.6_5'Flank	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	5					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGCGACGAAGGAGGCGGGACG	0.657																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(13-15)agG>agA		ribosomal protein S6 kinase, 70kDa, polypeptide 1							20.0	22.0	21.0					17																	57970560		2202	4299	6501	SO:0001819	synonymous_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:57970560G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.15G>A	17.37:g.57970560G>A						RPS6KB1_ENST00000443572.2_Silent_p.R5R|RPS6KB1_ENST00000406116.3_Silent_p.R5R	p.R5R	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		1	36	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		5					B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	c.15G>A	CCDS11621.1																																																																																				0.657	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		6	25	0	0	0	1	0	6	25				
ACTL9	284382	broad.mit.edu	37	19	8808726	8808726	+	Missense_Mutation	SNP	G	G	A	rs534855327		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8808726G>A	ENST00000324436.3	-	1	446	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	109						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCACCAGCGTCAGCTCTGG	0.701																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(325-327)aCg>aTg		actin-like 9							20.0	24.0	23.0					19																	8808726		2200	4297	6497	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808726G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.326C>T	19.37:g.8808726G>A	ENSP00000316674:p.Thr109Met						p.T109M	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	446	-			109					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.326C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315125	0.40996	.	.	ENSG00000181786	ENST00000324436	D	0.94793	-3.52	4.0	0.329	0.15924	.	0.305164	0.22500	N	0.059249	D	0.90611	0.7056	M	0.77103	2.36	0.27052	N	0.963755	P	0.35328	0.495	B	0.28784	0.094	D	0.84554	0.0646	10	0.87932	D	0	.	3.3525	0.07158	0.0908:0.1488:0.4754:0.285	.	109	Q8TC94	ACTL9_HUMAN	M	109	ENSP00000316674:T109M	ENSP00000316674:T109M	T	-	2	0	ACTL9	8669726	0.999000	0.42202	0.254000	0.24359	0.151000	0.21798	1.671000	0.37513	0.080000	0.16959	0.462000	0.41574	ACG		0.701	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		20	37	0	0	0	1	0	20	37				
SEPT4	5414	broad.mit.edu	37	17	56604060	56604060	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:56604060G>C	ENST00000317268.3	-	2	516	c.340C>G	c.(340-342)Ccc>Gcc	p.P114A	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.P95A|SEPT4_ENST00000393086.1_Missense_Mutation_p.P95A|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_De_novo_Start_OutOfFrame|SEPT4_ENST00000426861.1_Missense_Mutation_p.P95A|SEPT4_ENST00000412945.3_Missense_Mutation_p.P106A|SEPT4_ENST00000457347.2_Missense_Mutation_p.P129A|RP11-112H10.4_ENST00000578022.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	114					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAATCATAGGGATCAAGCTTG	0.637																																						ENST00000583114.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18								septin 4							28.0	34.0	32.0					17																	56604060		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56604060G>C	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.340C>G	17.37:g.56604060G>C	ENSP00000321674:p.Pro114Ala					SEPT4_ENST00000412945.3_Missense_Mutation_p.P106A|SEPT4_ENST00000393086.1_Missense_Mutation_p.P95A|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.P95A|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000317268.3_Missense_Mutation_p.P114A|SEPT4_ENST00000426861.1_Missense_Mutation_p.P95A|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.P129A|RP11-112H10.4_ENST00000580589.1_RNA		NM_001256822.1	NP_001243751.1	O43236	SEPT4_HUMAN			0	435	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Translation_Start_Site	SNP	ENST00000317268.3	37		CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631105	0.67015	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.65732	0.52;0.5;0.51;0.5;-0.17	5.14	5.14	0.70334	.	0.551776	0.14530	N	0.313886	T	0.71195	0.3311	L	0.34521	1.04	0.80722	D	1	P;D;P;P;P	0.89917	0.776;1.0;0.767;0.776;0.897	P;D;P;P;P	0.85130	0.523;0.997;0.661;0.523;0.577	T	0.68503	-0.5391	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	106;129;95;95;114	O43236-3;O43236-4;O43236-6;O43236-2;O43236	.;.;.;.;SEPT4_HUMAN	A	106;128;95;114;95;95	ENSP00000414779:P106A;ENSP00000321071:P95A;ENSP00000321674:P114A;ENSP00000376801:P95A;ENSP00000402348:P95A	ENSP00000321071:P95A	P	-	1	0	SEPT4	53959059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.409000	0.81822	0.655000	0.94253	CCC		0.637	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		7	98	0	0	0	1	0	7	98				
ITPR3	3710	broad.mit.edu	37	6	33659398	33659398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:33659398C>A	ENST00000374316.5	+	54	8292	c.7232C>A	c.(7231-7233)cCc>cAc	p.P2411H	ITPR3_ENST00000605930.1_Missense_Mutation_p.P2411H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2411					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCAGCCAGCCCCCTGGGGATG	0.597																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7231-7233)cCc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							63.0	55.0	57.0					6																	33659398		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33659398C>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7232C>A	6.37:g.33659398C>A	ENSP00000363435:p.Pro2411His					ITPR3_ENST00000605930.1_Missense_Mutation_p.P2411H	p.P2411H			Q14573	ITPR3_HUMAN			54	8292	+			2411					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7232C>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011303	0.75046	.	.	ENSG00000096433	ENST00000374316	D	0.91740	-2.9	5.24	5.24	0.73138	Ion transport (1);	0.517396	0.20505	N	0.091001	D	0.84538	0.5494	N	0.14661	0.345	0.46317	D	0.998985	B;P	0.48503	0.005;0.911	B;P	0.47626	0.009;0.552	D	0.85886	0.1425	10	0.39692	T	0.17	-25.9402	16.3694	0.83347	0.0:1.0:0.0:0.0	.	2411;2081	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2411	ENSP00000363435:P2411H	ENSP00000363435:P2411H	P	+	2	0	ITPR3	33767376	0.995000	0.38212	1.000000	0.80357	0.939000	0.58152	4.460000	0.60108	2.619000	0.88677	0.561000	0.74099	CCC		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		24	15	1	0	5.35356e-11	1	5.70577e-11	24	15				
CTBP2	1488	broad.mit.edu	37	10	126715679	126715679	+	Intron	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:126715679C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R217K|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTCAATGGGTCTTTCGCTGAT	0.677																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(649-651)aGa>aAa		C-terminal binding protein 2							40.0	45.0	43.0					10																	126715679		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715679C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11886G>A	10.37:g.126715679C>T						CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron	p.R217K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	780	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.650G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889413	0.52014	.	.	ENSG00000175029	ENST00000309035	D	0.84146	-1.81	4.54	4.54	0.55810	.	0.265837	0.27600	N	0.018655	D	0.90259	0.6954	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.56163	0.793	D	0.91558	0.5262	9	0.66056	D	0.02	.	17.8567	0.88765	0.0:1.0:0.0:0.0	.	217	P56545-2	.	K	217	ENSP00000311825:R217K	ENSP00000311825:R217K	R	-	2	0	CTBP2	126705669	0.843000	0.29541	0.900000	0.35374	0.018000	0.09664	4.300000	0.59079	2.525000	0.85131	0.655000	0.94253	AGA		0.677	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		36	67	0	0	0	1	0	36	67				
PCDHB18	54660	broad.mit.edu	37	5	140616093	140616093	+	RNA	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140616093C>A	ENST00000526308.1	+	0	2156					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCGGCCACCGCCACGCTGCAC	0.711																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140616093C>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616093C>A								NR_001281.1						0	2156	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.711	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			36	19	1	0	1.15183e-24	1	1.27457e-24	36	19				
ZNF682	91120	broad.mit.edu	37	19	20117530	20117530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20117530C>G	ENST00000397165.2	-	4	941	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	ZNF682_ENST00000595736.1_Missense_Mutation_p.E185Q|ZNF682_ENST00000397162.1_Missense_Mutation_p.E229Q|ZNF682_ENST00000597972.1_Missense_Mutation_p.E267Q|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.E229Q	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	261					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(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCCACATTCTTCACATTTG	0.393																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(781-783)Gaa>Caa		zinc finger protein 682							66.0	69.0	68.0					19																	20117530		2140	4272	6412	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117530C>G	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.781G>C	19.37:g.20117530C>G	ENSP00000380351:p.Glu261Gln					ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E185Q|ZNF682_ENST00000397162.1_Missense_Mutation_p.E229Q|ZNF682_ENST00000358523.5_Missense_Mutation_p.E229Q|ZNF682_ENST00000597972.1_Missense_Mutation_p.E267Q	p.E261Q	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	941	-			261					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.781G>C	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911693	0.17833	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.07800	3.16;3.16;3.16	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	N	0.05012	-0.13	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.32481	-0.9905	9	0.59425	D	0.04	.	7.5768	0.27942	0.0:1.0:0.0:0.0	.	261	O95780	ZN682_HUMAN	Q	261;229;229	ENSP00000380351:E261Q;ENSP00000380348:E229Q;ENSP00000351324:E229Q	ENSP00000351324:E229Q	E	-	1	0	ZNF682	19978530	0.000000	0.05858	0.388000	0.26195	0.352000	0.29268	-0.939000	0.03933	0.488000	0.27723	0.491000	0.48974	GAA		0.393	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		13	46	0	0	0	1	0	13	46				
PIK3CA	5290	broad.mit.edu	37	3	178936013	178936013	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:178936013A>G	ENST00000263967.3	+	10	1712	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	519	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CAGACTAGCTAGAGACAATGA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1555-1557)Aga>Gga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							29.0	28.0	28.0					3																	178936013		1786	4028	5814	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936013A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1555A>G	3.37:g.178936013A>G	ENSP00000263967:p.Arg519Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R519G	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1712	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		519					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1555A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	9.504	1.104074	0.20632	.	.	ENSG00000121879	ENST00000263967	T	0.63913	-0.07	5.54	2.93	0.34026	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	0.050933	0.64402	D	0.000001	T	0.45716	0.1356	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.27400	-1.0075	10	0.15499	T	0.54	-18.0313	14.3547	0.66730	0.6715:0.3285:0.0:0.0	.	519	P42336	PK3CA_HUMAN	G	519	ENSP00000263967:R519G	ENSP00000263967:R519G	R	+	1	2	PIK3CA	180418707	0.802000	0.28943	1.000000	0.80357	0.963000	0.63663	0.374000	0.20501	0.903000	0.36546	0.383000	0.25322	AGA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	31	0	0	0	1	0	16	31				
OTUB1	55611	broad.mit.edu	37	11	63764862	63764862	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63764862C>T	ENST00000538426.1	+	7	704	c.660C>T	c.(658-660)atC>atT	p.I220I	OTUB1_ENST00000543988.1_Silent_p.I190I|OTUB1_ENST00000428192.2_Silent_p.I220I|OTUB1_ENST00000422031.2_Silent_p.I257I|OTUB1_ENST00000535715.1_Silent_p.I220I|OTUB1_ENST00000543004.1_Silent_p.I229I|OTUB1_ENST00000541478.1_Silent_p.I119I	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	220	Free ubiquitin binding.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACATCCACATCATTGCGCTGG	0.682																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(355-357)atC>atT		OTU domain, ubiquitin aldehyde binding 1							97.0	81.0	87.0					11																	63764862		2201	4297	6498	SO:0001819	synonymous_variant	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764862C>T	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.660C>T	11.37:g.63764862C>T						OTUB1_ENST00000538426.1_Silent_p.I220I|OTUB1_ENST00000543004.1_Silent_p.I229I|OTUB1_ENST00000543988.1_Silent_p.I190I|OTUB1_ENST00000422031.2_Silent_p.I257I|OTUB1_ENST00000428192.2_Silent_p.I220I|OTUB1_ENST00000535715.1_Silent_p.I220I	p.I119I			Q96FW1	OTUB1_HUMAN			4	817	+			220			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Silent	SNP	ENST00000538426.1	37	c.357C>T	CCDS8055.1																																																																																				0.682	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		24	81	0	0	0	1	0	24	81				
ANK3	288	broad.mit.edu	37	10	61833210	61833210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:61833210G>T	ENST00000280772.2	-	37	7620	c.7429C>A	c.(7429-7431)Cat>Aat	p.H2477N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2477					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTATCAGAATGAGACACATCT	0.463																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7429-7431)Cat>Aat		ankyrin 3, node of Ranvier (ankyrin G)							90.0	94.0	92.0					10																	61833210		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833210G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7429C>A	10.37:g.61833210G>T	ENSP00000280772:p.His2477Asn					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.H2477N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7620	-			2477					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7429C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628231	0.28978	.	.	ENSG00000151150	ENST00000280772	T	0.64085	-0.08	5.69	5.69	0.88448	.	0.000000	0.43260	D	0.000584	T	0.58708	0.2141	L	0.48642	1.525	0.80722	D	1	P	0.35433	0.501	B	0.32980	0.156	T	0.58702	-0.7590	10	0.44086	T	0.13	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	2477	Q12955	ANK3_HUMAN	N	2477	ENSP00000280772:H2477N	ENSP00000280772:H2477N	H	-	1	0	ANK3	61503216	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	8.000000	0.88501	2.687000	0.91594	0.462000	0.41574	CAT		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		26	58	1	0	1.04121e-07	1	1.10102e-07	26	58				
FIG4	9896	broad.mit.edu	37	6	110112691	110112691	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:110112691G>C	ENST00000230124.3	+	20	2417	c.2293G>C	c.(2293-2295)Gat>Cat	p.D765H	FIG4_ENST00000441478.2_Missense_Mutation_p.D488H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	765					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTCTGGGACTGATCGGGAAGA	0.612																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2293-2295)Gat>Cat		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							64.0	66.0	65.0					6																	110112691		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110112691G>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2293G>C	6.37:g.110112691G>C	ENSP00000230124:p.Asp765His					FIG4_ENST00000441478.2_Missense_Mutation_p.D488H	p.D765H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	20	2417	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	765					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2293G>C	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641196	0.87859	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	T;T	0.54479	1.8;0.57	5.88	5.01	0.66863	.	0.050643	0.85682	D	0.000000	T	0.40094	0.1103	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;P	0.64321	0.924;0.786	T	0.32719	-0.9896	10	0.10636	T	0.68	-25.1797	14.7983	0.69894	0.0688:0.0:0.9312:0.0	.	488;765	F5H8L9;Q92562	.;FIG4_HUMAN	H	488;765;72	ENSP00000399443:D488H;ENSP00000230124:D765H	ENSP00000230124:D765H	D	+	1	0	FIG4	110219384	1.000000	0.71417	0.944000	0.38274	0.980000	0.70556	7.599000	0.82757	1.492000	0.48499	0.655000	0.94253	GAT		0.612	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		51	67	0	0	0	1	0	51	67				
KEL	3792	broad.mit.edu	37	7	142638423	142638423	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142638423G>A	ENST00000355265.2	-	19	2589	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	705					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGTGCTGCTGAGGGGCCCGT	0.597																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(2113-2115)ctC>ctT		Kell blood group, metallo-endopeptidase							100.0	106.0	104.0					7																	142638423		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638423G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2115C>T	7.37:g.142638423G>A							p.L705L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			19	2589	-	Melanoma(164;0.059)		705					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.2115C>T	CCDS34766.1																																																																																				0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		56	54	0	0	0	1	0	56	54				
FAM101A	144347	broad.mit.edu	37	12	124796441	124796441	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:124796441C>T	ENST00000389727.3	+	2	285	c.285C>T	c.(283-285)atC>atT	p.I95I	FAM101A_ENST00000338359.4_Silent_p.I14I|FAM101A_ENST00000546355.1_Silent_p.I14I|FAM101A_ENST00000324038.3_Silent_p.I14I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	95										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GGGAGAGCATCAAGGTGAACC	0.662																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(283-285)atC>atT		family with sequence similarity 101, member A							36.0	34.0	34.0					12																	124796441		2203	4300	6503	SO:0001819	synonymous_variant	144347							g.chr12:124796441C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.285C>T	12.37:g.124796441C>T						RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000546355.1_Silent_p.I14I|FAM101A_ENST00000324038.3_Silent_p.I14I|FAM101A_ENST00000338359.4_Silent_p.I14I	p.I95I			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	2	285	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		95					A5D8T5	Silent	SNP	ENST00000389727.3	37	c.285C>T																																																																																					0.662	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		10	22	0	0	0	1	0	10	22				
ZNF582	147948	broad.mit.edu	37	19	56896032	56896032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:56896032C>T	ENST00000301310.4	-	5	912	c.754G>A	c.(754-756)Gag>Aag	p.E252K	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.E252K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACGGTTTCTCACCAGTATGA	0.393																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(754-756)Gag>Aag		zinc finger protein 582							62.0	60.0	61.0					19																	56896032		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896032C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.754G>A	19.37:g.56896032C>T	ENSP00000301310:p.Glu252Lys					ZNF582_ENST00000586929.1_Missense_Mutation_p.E252K	p.E252K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	912	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	252					B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.754G>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904257	0.72868	.	.	ENSG00000018869	ENST00000301310	T	0.24350	1.86	5.18	5.18	0.71444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36101	N	0.002787	T	0.40423	0.1116	L	0.33137	0.985	0.39278	D	0.964502	D;D	0.89917	1.0;0.957	D;P	0.77004	0.989;0.84	T	0.24333	-1.0163	10	0.54805	T	0.06	.	15.7145	0.77658	0.0:1.0:0.0:0.0	.	252;283	Q96NG8;B4DQZ9	ZN582_HUMAN;.	K	252	ENSP00000301310:E252K	ENSP00000301310:E252K	E	-	1	0	ZNF582	61587844	0.997000	0.39634	0.949000	0.38748	0.159000	0.22180	3.581000	0.53914	2.679000	0.91253	0.655000	0.94253	GAG		0.393	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		5	23	0	0	0	1	0	5	23				
BNC2	54796	broad.mit.edu	37	9	16552615	16552615	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:16552615G>A	ENST00000380672.4	-	5	639	c.582C>T	c.(580-582)ttC>ttT	p.F194F	BNC2_ENST00000380666.2_Silent_p.F194F|BNC2_ENST00000545497.1_Silent_p.F99F|BNC2_ENST00000380667.2_Silent_p.F127F	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGACGCTGAAGAGACGGT	0.552																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(580-582)ttC>ttT		basonuclin 2							117.0	87.0	97.0					9																	16552615		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16552615G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.582C>T	9.37:g.16552615G>A						BNC2_ENST00000545497.1_Silent_p.F99F|BNC2_ENST00000380667.2_Silent_p.F127F|BNC2_ENST00000380666.2_Silent_p.F194F	p.F194F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	639	-			194						Silent	SNP	ENST00000380672.4	37	c.582C>T	CCDS6482.2																																																																																				0.552	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		20	25	0	0	0	1	0	20	25				
PARPBP	55010	broad.mit.edu	37	12	102542110	102542110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:102542110G>A	ENST00000358383.5	+	3	301	c.256G>A	c.(256-258)Gac>Aac	p.D86N	PARPBP_ENST00000378128.3_Missense_Mutation_p.D86N|PARPBP_ENST00000537257.1_Missense_Mutation_p.D86N|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D5N|PARPBP_ENST00000541394.1_Missense_Mutation_p.D86N|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.D5N			Q9NWS1	PARI_HUMAN	PARP1 binding protein	86					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						GGACGTGACTGACCATTATGA	0.353																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(13-15)Gac>Aac		PARP1 binding protein							119.0	119.0	119.0					12																	102542110		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102542110G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.256G>A	12.37:g.102542110G>A	ENSP00000351153:p.Asp86Asn					PARPBP_ENST00000358383.5_Missense_Mutation_p.D86N|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.D86N|PARPBP_ENST00000537257.1_Missense_Mutation_p.D86N|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D5N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D86N	p.D5N	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			4	476	+			86					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.13G>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913834	0.72983	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000537257;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.48522	0.96;0.81;0.96;0.96;0.96;0.81;0.96;0.96	5.25	5.25	0.73442	.	0.195177	0.53938	D	0.000060	T	0.59878	0.2226	L	0.50333	1.59	0.32881	D	0.510557	P;P;B;P;P;D;P	0.56746	0.555;0.675;0.237;0.873;0.634;0.977;0.634	B;B;B;P;B;P;B	0.55923	0.198;0.372;0.093;0.503;0.295;0.787;0.295	T	0.69101	-0.5234	10	0.72032	D	0.01	-2.9957	19.1973	0.93695	0.0:0.0:1.0:0.0	.	86;86;86;86;86;5;86	B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1-3;Q9NWS1;Q9NWS1-2;Q9NWS1-4	.;.;.;.;PR1BP_HUMAN;.;.	N	86;5;86;86;86;5;53;53	ENSP00000367368:D86N;ENSP00000332915:D5N;ENSP00000440850:D86N;ENSP00000442549:D86N;ENSP00000351153:D86N;ENSP00000376643:D5N;ENSP00000411313:D53N;ENSP00000393867:D53N	ENSP00000332915:D5N	D	+	1	0	C12orf48	101066240	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	3.877000	0.56123	2.606000	0.88127	0.563000	0.77884	GAC		0.353	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		13	48	0	0	0	1	0	13	48				
CABIN1	23523	broad.mit.edu	37	22	24480736	24480736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:24480736G>A	ENST00000398319.2	+	21	3500	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	CABIN1_ENST00000405822.2_Missense_Mutation_p.E989K|CABIN1_ENST00000263119.5_Missense_Mutation_p.E1039K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1039					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTTCAACTGAGGTGGGCCC	0.552																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3115-3117)Gag>Aag		calcineurin binding protein 1							59.0	48.0	52.0					22																	24480736		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24480736G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3115G>A	22.37:g.24480736G>A	ENSP00000381364:p.Glu1039Lys					CABIN1_ENST00000405822.2_Missense_Mutation_p.E989K|CABIN1_ENST00000263119.5_Missense_Mutation_p.E1039K	p.E1039K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			21	3500	+			1039					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3115G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	4.297	0.054299	0.08291	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.61742	0.33;0.08;0.33	5.56	3.15	0.36227	.	0.051340	0.85682	D	0.000000	T	0.22551	0.0544	N	0.01438	-0.865	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.06058	-1.0848	10	0.15499	T	0.54	.	4.7649	0.13127	0.3824:0.0:0.6176:0.0	.	989;1039	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	K	1039;989;1039	ENSP00000263119:E1039K;ENSP00000384694:E989K;ENSP00000381364:E1039K	ENSP00000263119:E1039K	E	+	1	0	CABIN1	22810736	1.000000	0.71417	0.896000	0.35187	0.242000	0.25591	6.852000	0.75430	1.514000	0.48869	-0.142000	0.14014	GAG		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		12	37	0	0	0	1	0	12	37				
ZNF175	7728	broad.mit.edu	37	19	52090536	52090536	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:52090536C>A	ENST00000262259.2	+	5	1310	c.952C>A	c.(952-954)Cca>Aca	p.P318T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	318					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGCCTTCATGCCACAACTAAA	0.433																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(952-954)Cca>Aca		zinc finger protein 175							86.0	87.0	87.0					19																	52090536		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090536C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.952C>A	19.37:g.52090536C>A	ENSP00000262259:p.Pro318Thr					ZNF175_ENST00000436511.2_Intron	p.P318T	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1310	+		all_neural(266;0.0299)	318					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.952C>A	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126394	0.08931	.	.	ENSG00000105497	ENST00000262259	T	0.13778	2.56	2.41	0.241	0.15494	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02688	0.0081	N	0.00325	-1.645	0.09310	N	1	B	0.29862	0.259	B	0.32090	0.14	T	0.38802	-0.9644	9	0.20519	T	0.43	.	2.3411	0.04260	0.2408:0.4689:0.0:0.2903	.	318	Q9Y473	ZN175_HUMAN	T	318	ENSP00000262259:P318T	ENSP00000262259:P318T	P	+	1	0	ZNF175	56782348	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-2.159000	0.01280	0.139000	0.18822	0.643000	0.83706	CCA		0.433	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		6	89	1	0	5.9392e-07	1	6.21544e-07	6	89				
PCDHA8	56140	broad.mit.edu	37	5	140222595	140222595	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140222595G>A	ENST00000531613.1	+	1	1689	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P563P|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	563	Cadherin 5. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGCCGGCACTGCTGG	0.706																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1687-1689)ccG>ccA									52.0	59.0	57.0					5																	140222595		2196	4261	6457	SO:0001819	synonymous_variant	56140							g.chr5:140222595G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1689G>A	5.37:g.140222595G>A						PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P563P|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P563P	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1689	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1689G>A	CCDS54919.1																																																																																				0.706	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		7	97	0	0	0	1	0	7	97				
ZBTB16	7704	broad.mit.edu	37	11	113934355	113934355	+	Silent	SNP	C	C	A	rs200027612		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:113934355C>A	ENST00000335953.4	+	2	713	c.333C>A	c.(331-333)atC>atA	p.I111I	ZBTB16_ENST00000392996.2_Silent_p.I111I	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	111					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGGAGATCGAGTACCTGG	0.592																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(331-333)atC>atA		zinc finger and BTB domain containing 16							52.0	51.0	52.0					11																	113934355		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934355C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.333C>A	11.37:g.113934355C>A						ZBTB16_ENST00000392996.2_Silent_p.I111I	p.I111I	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	713	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	111					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.333C>A	CCDS8367.1																																																																																				0.592	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		19	9	1	0	7.45023e-12	1	7.98238e-12	19	9				
GATB	5188	broad.mit.edu	37	4	152593947	152593947	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:152593947G>A	ENST00000515812.1	-	11	1405	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PET112_ENST00000507592.1_5'UTR|RP11-164P12.4_ENST00000508664.1_RNA|PET112_ENST00000263985.6_Silent_p.L504L|RP11-164P12.3_ENST00000514269.1_RNA																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CAGAGTGGCAGAGCTGCTCCA	0.587																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1510-1512)ctC>ctT		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						87.0	76.0	80.0					4																	152593947		2203	4300	6503	SO:0001819	synonymous_variant	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152593947G>A																												ENST00000515812.1:c.1389C>T	4.37:g.152593947G>A						PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Silent_p.L463L	p.L504L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			12	1552	-			504						Silent	SNP	ENST00000515812.1	37	c.1512C>T																																																																																					0.587	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			15	55	0	0	0	1	0	15	55				
KIF4B	285643	broad.mit.edu	37	5	154396893	154396893	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396893C>T	ENST00000435029.4	+	1	3634	c.3474C>T	c.(3472-3474)aaC>aaT	p.N1158N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1158	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTTCTTTAACCCTGTCTGTG	0.532																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3472-3474)aaC>aaT		kinesin family member 4B							100.0	101.0	101.0					5																	154396893		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396893C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3474C>T	5.37:g.154396893C>T							p.N1158N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3634	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1158			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3474C>T	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			5	66	0	0	0	1	0	5	66				
TRGV5	6978	broad.mit.edu	37	7	38389467	38389467	+	RNA	SNP	G	G	A	rs28527371		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:38389467G>A	ENST00000390344.2	-	0	156									T cell receptor gamma variable 5																		GACCAGATGAGGAGGAGCAGA	0.562																																						ENST00000390344.2																			0																				43.0	42.0	43.0					7																	38389467		1893	4124	6017			6978							g.chr7:38389467G>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389467G>A														0	156	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.562	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		4	58	0	0	0	1	0	4	58				
CNTN2	6900	broad.mit.edu	37	1	205039111	205039111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:205039111G>A	ENST00000331830.4	+	18	2637	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	785	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACGCCCTTTGAGGTCAAGAT	0.667																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2353-2355)Gag>Aag		contactin 2 (axonal)							44.0	50.0	48.0					1																	205039111		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039111G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2353G>A	1.37:g.205039111G>A	ENSP00000330633:p.Glu785Lys						p.E785K	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2637	+	all_cancers(21;0.144)|Breast(84;0.0437)		785			Fibronectin type-III 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2353G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451780	0.84209	.	.	ENSG00000184144	ENST00000331830	T	0.58210	0.35	5.07	3.13	0.36017	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000052	T	0.55673	0.1935	M	0.75777	2.31	0.43114	D	0.994827	B;P	0.35307	0.277;0.494	B;B	0.36092	0.217;0.217	T	0.61357	-0.7079	10	0.62326	D	0.03	.	15.8009	0.78453	0.0:0.1839:0.816:0.0	.	785;676	Q02246;Q68DA2	CNTN2_HUMAN;.	K	785	ENSP00000330633:E785K	ENSP00000330633:E785K	E	+	1	0	CNTN2	203305734	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.818000	0.86416	0.506000	0.28125	0.467000	0.42956	GAG		0.667	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		40	109	0	0	0	1	0	40	109				
SORCS2	57537	broad.mit.edu	37	4	7668891	7668891	+	Missense_Mutation	SNP	G	G	A	rs543290121		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:7668891G>A	ENST00000507866.2	+	8	1221	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R199H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	371					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTTATCGTCGAAATGAA	0.488																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1111-1113)cGt>cAt		sortilin-related VPS10 domain containing receptor 2							205.0	198.0	200.0					4																	7668891		1989	4175	6164	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7668891G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1112G>A	4.37:g.7668891G>A	ENSP00000422185:p.Arg371His					SORCS2_ENST00000329016.9_Missense_Mutation_p.R199H	p.R371H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			8	1221	+			371					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1112G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812222	0.50527	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.34072	1.38;1.38	4.45	4.45	0.53987	VPS10 (1);	0.000000	0.64402	D	0.000004	T	0.56877	0.2015	M	0.77103	2.36	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	P;P	0.62885	0.908;0.908	T	0.62253	-0.6893	10	0.66056	D	0.02	.	12.8323	0.57752	0.0:0.0:0.8361:0.1639	.	199;371	B5MED8;Q96PQ0	.;SORC2_HUMAN	H	371;199	ENSP00000422185:R371H;ENSP00000329124:R199H	ENSP00000329124:R199H	R	+	2	0	SORCS2	7719791	0.994000	0.37717	0.058000	0.19502	0.005000	0.04900	3.195000	0.51013	2.303000	0.77524	0.655000	0.94253	CGT		0.488	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		49	143	0	0	0	1	0	49	143				
SGK2	10110	broad.mit.edu	37	20	42208615	42208615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:42208615G>C	ENST00000341458.4	+	11	1252	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	SGK2_ENST00000373077.1_Missense_Mutation_p.E284Q|SGK2_ENST00000423407.3_Missense_Mutation_p.E285Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E311Q|SGK2_ENST00000373100.1_Missense_Mutation_p.E285Q|SGK2_ENST00000373092.3_Missense_Mutation_p.E285Q	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGCAGCTTGAGATTAAGAA	0.502																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(853-855)Gag>Cag		serum/glucocorticoid regulated kinase 2							127.0	113.0	118.0					20																	42208615		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42208615G>C	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1033G>C	20.37:g.42208615G>C	ENSP00000340608:p.Glu345Gln					SGK2_ENST00000373092.3_Missense_Mutation_p.E285Q|SGK2_ENST00000341458.4_Missense_Mutation_p.E345Q|SGK2_ENST00000423407.3_Missense_Mutation_p.E285Q|SGK2_ENST00000373077.1_Missense_Mutation_p.E284Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E311Q	p.E285Q			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1313	+		Myeloproliferative disorder(115;0.00452)	345			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.853G>C	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138006	0.37728	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102798	0.64402	D	0.000004	T	0.33644	0.0870	L	0.46819	1.47	0.80722	D	1	P;P;B	0.43431	0.641;0.807;0.035	B;P;B	0.47626	0.412;0.552;0.054	T	0.15263	-1.0443	10	0.72032	D	0.01	.	16.623	0.84934	0.0:0.0:1.0:0.0	.	311;345;285	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	Q	285;285;284;285;345;311	ENSP00000362192:E285Q;ENSP00000362184:E285Q;ENSP00000362168:E284Q;ENSP00000392795:E285Q;ENSP00000340608:E345Q;ENSP00000412214:E311Q	ENSP00000340608:E345Q	E	+	1	0	SGK2	41642029	1.000000	0.71417	0.966000	0.40874	0.775000	0.43874	9.558000	0.98132	2.266000	0.75297	0.563000	0.77884	GAG		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			19	46	0	0	0	1	0	19	46				
NMRAL1	57407	broad.mit.edu	37	16	4519347	4519347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4519347C>T	ENST00000574733.1	-	3	889	c.160G>A	c.(160-162)Gta>Ata	p.V54I	NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Missense_Mutation_p.V54I|NMRAL1_ENST00000574425.1_Missense_Mutation_p.V54I|NMRAL1_ENST00000283429.6_Missense_Mutation_p.V54I			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCTGCACTACTTCTGCACCT	0.567																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(160-162)Gta>Ata		NmrA-like family domain containing 1							309.0	228.0	255.0					16																	4519347		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4519347C>T	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.160G>A	16.37:g.4519347C>T	ENSP00000458762:p.Val54Ile					NMRAL1_ENST00000404295.3_Missense_Mutation_p.V54I|NMRAL1_ENST00000574425.1_Missense_Mutation_p.V54I|NMRAL1_ENST00000283429.6_Missense_Mutation_p.V54I|NMRAL1_ENST00000572391.1_Intron	p.V54I			Q9HBL8	NMRL1_HUMAN			3	889	-			54						Missense_Mutation	SNP	ENST00000574733.1	37	c.160G>A	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734567	0.48939	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.46063	0.88;0.88	5.54	4.59	0.56863	NAD(P)-binding domain (1);NmrA-like (1);	0.310205	0.28247	N	0.016052	T	0.33440	0.0863	L	0.48642	1.525	0.31654	N	0.64642	B	0.09022	0.002	B	0.11329	0.006	T	0.33266	-0.9875	10	0.22706	T	0.39	-10.3422	9.1757	0.37109	0.0:0.7748:0.1457:0.0794	.	54	Q9HBL8	NMRL1_HUMAN	I	54	ENSP00000283429:V54I;ENSP00000383962:V54I	ENSP00000283429:V54I	V	-	1	0	NMRAL1	4459348	0.310000	0.24527	0.572000	0.28498	0.946000	0.59487	0.809000	0.27168	1.350000	0.45770	0.561000	0.74099	GTA		0.567	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		72	244	0	0	0	1	0	72	244				
NOSTRIN	115677	broad.mit.edu	37	2	169659175	169659175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:169659175G>C	ENST00000317647.7	+	1	248	c.19G>C	c.(19-21)Gat>Cat	p.D7H	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000397206.2_5'UTR	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	7	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCACTGACAGATTGTCCGGT	0.468																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(19-21)Gat>Cat		nitric oxide synthase trafficking							129.0	149.0	142.0					2																	169659175		1985	4171	6156	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169659175G>C	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.19G>C	2.37:g.169659175G>C	ENSP00000318921:p.Asp7His					NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.D7H	p.D7H			Q8IVI9	NOSTN_HUMAN			3	495	+			7			FCH.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.19G>C	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358885	0.24598	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000397209;ENST00000421711	T;T;T;T;T	0.36878	1.39;1.39;1.23;1.39;1.39	5.89	2.49	0.30216	Fps/Fes/Fer/CIP4 homology (1);	0.554017	0.21381	N	0.075474	T	0.39517	0.1081	L	0.47716	1.5	0.09310	N	0.999999	P;P;P	0.43287	0.739;0.761;0.802	P;B;B	0.50617	0.646;0.215;0.276	T	0.15065	-1.0450	10	0.59425	D	0.04	-19.4006	8.0185	0.30395	0.3187:0.0:0.6813:0.0	.	7;7;7	Q8IVI9-2;Q8IVI9;E7EPT9	.;NOSTN_HUMAN;.	H	7	ENSP00000402140:D7H;ENSP00000394051:D7H;ENSP00000318921:D7H;ENSP00000380392:D7H;ENSP00000401316:D7H	ENSP00000318921:D7H	D	+	1	0	NOSTRIN	169367421	0.075000	0.21258	0.133000	0.22050	0.469000	0.32828	0.353000	0.20130	0.726000	0.32339	0.561000	0.74099	GAT		0.468	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		10	24	0	0	0	1	0	10	24				
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; 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)		GAGACGCACTCGTTGACGTCG	0.667			"""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.(1363-1365)Gag>Aag		notch 1							57.0	64.0	62.0					9																	139412282		2174	4262	6436	SO:0001583	missense	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.chr9:139412282C>T	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.1363G>A	9.37:g.139412282C>T	ENSP00000277541:p.Glu455Lys	HNSCC(8;0.001)					p.E455K	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1438	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	455			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1363G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705042	0.88924	.	.	ENSG00000148400	ENST00000277541	D	0.98849	-5.18	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99226	1.0880	10	0.66056	D	0.02	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	455	P46531	NOTC1_HUMAN	K	455	ENSP00000277541:E455K	ENSP00000277541:E455K	E	-	1	0	NOTCH1	138532103	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	5.879000	0.69690	2.088000	0.63022	0.462000	0.41574	GAG		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		65	48	0	0	0	1	0	65	48				
ASXL2	55252	broad.mit.edu	37	2	25966688	25966688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:25966688G>C	ENST00000435504.4	-	13	2811	c.2518C>G	c.(2518-2520)Cta>Gta	p.L840V	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.L812V|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	840					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGATTAGAGCAGGACCT	0.522																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2518-2520)Cta>Gta		additional sex combs like 2 (Drosophila)							170.0	169.0	170.0					2																	25966688		2040	4185	6225	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966688G>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2518C>G	2.37:g.25966688G>C	ENSP00000391447:p.Leu840Val					ASXL2_ENST00000336112.4_Missense_Mutation_p.L812V|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron	p.L840V			Q76L83	ASXL2_HUMAN			13	2811	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		840					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2518C>G		.	.	.	.	.	.	.	.	.	.	G	10.85	1.467269	0.26335	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.21543	2.0;2.0	5.57	2.68	0.31781	.	0.621647	0.15449	N	0.261758	T	0.20251	0.0487	L	0.51422	1.61	0.53688	D	0.999976	B	0.15141	0.012	B	0.11329	0.006	T	0.03306	-1.1050	10	0.87932	D	0	-1.7363	9.4491	0.38714	0.0759:0.4151:0.509:0.0	.	840	Q76L83	ASXL2_HUMAN	V	840;812	ENSP00000391447:L840V;ENSP00000337250:L812V	ENSP00000337250:L812V	L	-	1	2	ASXL2	25820192	0.998000	0.40836	0.431000	0.26735	0.982000	0.71751	2.339000	0.43965	0.263000	0.21812	0.563000	0.77884	CTA		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		47	110	0	0	0	1	0	47	110				
DAW1	164781	broad.mit.edu	37	2	228755971	228755971	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:228755971G>T	ENST00000309931.2	+	4	342	c.259G>T	c.(259-261)Gtt>Ttt	p.V87F	DAW1_ENST00000373666.2_Splice_Site_p.V87F|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Splice_Site_p.V72F	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	87						cilium (GO:0005929)											TTCACTGAAGGTTCTCAAAGC	0.294																																						ENST00000373666.2																			0											c.e4-1		dynein assembly factor with WDR repeat domains 1							135.0	138.0	137.0					2																	228755971		2202	4300	6502	SO:0001630	splice_region_variant	164781							g.chr2:228755971G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.259-1G>T	2.37:g.228755971G>T						DAW1_ENST00000545118.1_Splice_Site_p.V72_splice|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000309931.2_Splice_Site_p.V87_splice	p.V87_splice							4	895	+								Q6ZRY1|Q8N776	Splice_Site	SNP	ENST00000309931.2	37	c.258_splice	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662991	0.67700	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.62788	-0.0;-0.0;-0.0	5.66	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.282354	0.34507	N	0.003909	T	0.72137	0.3423	L	0.58354	1.805	0.80722	D	1	D	0.57257	0.979	P	0.61533	0.89	T	0.72050	-0.4407	9	.	.	.	.	13.4496	0.61163	0.076:0.0:0.924:0.0	.	87	Q8N136	WDR69_HUMAN	F	87;87;72	ENSP00000362770:V87F;ENSP00000311899:V87F;ENSP00000437887:V72F	.	V	+	1	0	WDR69	228464215	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.284000	0.58983	1.381000	0.46364	0.655000	0.94253	GTT		0.294	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Missense_Mutation	15	67	1	0	5.35267e-07	1	5.63073e-07	15	67				
DCAF4	26094	broad.mit.edu	37	14	73412678	73412678	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:73412678G>T	ENST00000358377.2	+	7	841	c.621G>T	c.(619-621)ctG>ctT	p.L207L	DCAF4_ENST00000509153.1_Silent_p.L146L|DCAF4_ENST00000553457.1_Silent_p.L107L|DCAF4_ENST00000555042.1_Silent_p.L207L|DCAF4_ENST00000394234.2_Silent_p.L107L|DCAF4_ENST00000353777.3_Silent_p.L146L	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGCAAAGTCTGAAGACCCCTA	0.512																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(319-321)ctG>ctT		DDB1 and CUL4 associated factor 4							190.0	174.0	179.0					14																	73412678		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73412678G>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.621G>T	14.37:g.73412678G>T						DCAF4_ENST00000394234.2_Silent_p.L107L|DCAF4_ENST00000358377.2_Silent_p.L207L|DCAF4_ENST00000509153.1_Silent_p.L146L|DCAF4_ENST00000353777.3_Silent_p.L146L|DCAF4_ENST00000555042.1_Silent_p.L207L	p.L107L			Q8WV16	DCAF4_HUMAN			6	611	+			207					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.321G>T	CCDS9809.1																																																																																				0.512	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		177	245	1	0	3.89164e-85	1	4.39029e-85	177	245				
DDIAS	220042	broad.mit.edu	37	11	82643899	82643899	+	Missense_Mutation	SNP	G	G	T	rs374189506		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:82643899G>T	ENST00000533655.1	+	6	1731	c.1519G>T	c.(1519-1521)Gtt>Ttt	p.V507F	C11orf82_ENST00000430323.2_Missense_Mutation_p.V507F|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.V206F|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		507					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTCCTAGTGTTGAAAAGGA	0.358																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1519-1521)Gtt>Ttt		chromosome 11 open reading frame 82							29.0	28.0	28.0					11																	82643899		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643899G>T																												ENST00000533655.1:c.1519G>T	11.37:g.82643899G>T	ENSP00000435421:p.Val507Phe					C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.V507F|C11orf82_ENST00000329143.3_Missense_Mutation_p.V206F|C11orf82_ENST00000525361.1_Intron	p.V507F	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	1731	+			507					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1519G>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121671	0.37436	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.19806	2.38;2.38;2.12	6.17	-3.24	0.05094	.	1.331490	0.04806	N	0.434468	T	0.16128	0.0388	L	0.44542	1.39	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.33137	-0.9880	9	.	.	.	.	8.0649	0.30654	0.6945:0.0:0.1736:0.1318	.	507	Q8IXT1	NOXIN_HUMAN	F	507;507;206	ENSP00000414687:V507F;ENSP00000435421:V507F;ENSP00000329930:V206F	.	V	+	1	0	C11orf82	82321547	0.000000	0.05858	0.001000	0.08648	0.610000	0.37248	-0.466000	0.06672	-0.143000	0.11334	0.655000	0.94253	GTT		0.358	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			17	8	1	0	4.7546e-09	1	5.05411e-09	17	8				
SUGCT	79783	broad.mit.edu	37	7	40498797	40498797	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:40498797G>T	ENST00000335693.4	+	11	1030	c.1007G>T	c.(1006-1008)cGg>cTg	p.R336L	C7orf10_ENST00000401647.2_Splice_Site_p.R288L|C7orf10_ENST00000309930.5_Splice_Site_p.R336L	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		336			R -> W (in GA3; inactive enzyme; healthy individuals who have abnormal quantities of glutaric acid but low 3- hydroxyglutaric acid; dbSNP:rs137852860). {ECO:0000269|PubMed:18926513}.		metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTATCTGAACGGTAAGTTTGG	0.294																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.e11+1		chromosome 7 open reading frame 10							40.0	41.0	40.0					7																	40498797		1792	4057	5849	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40498797G>T																												ENST00000335693.4:c.1007+1G>T	7.37:g.40498797G>T						C7orf10_ENST00000335693.4_Splice_Site_p.R336_splice|C7orf10_ENST00000401647.2_Splice_Site_p.R288_splice	p.R336_splice	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			11	1031	+			336		R -> W (in GA3; healthy individuals who have abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid).			A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	ENST00000335693.4	37	c.1007_splice	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.324|9.324	1.058768|1.058768	0.19987|0.19987	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.33|5.33	4.45|4.45	0.53987|0.53987	.|CoA-transferase family III domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.38953|0.38953	1.18|1.18	0.32270|0.32270	N|N	0.568947|0.568947	.|B;B;B	.|0.26775	.|0.055;0.099;0.159	.|B;B;B	.|0.24155	.|0.051;0.015;0.033	T|T	0.56463|0.56463	-0.7975|-0.7975	5|10	.|0.06099	.|T	.|0.92	-8.7213|-8.7213	10.5497|10.5497	0.45081|0.45081	0.0902:0.0:0.9098:0.0|0.0902:0.0:0.9098:0.0	.|.	.|288;336;299	.|Q4KMW8;Q9HAC7;Q9HAC7-2	.|.;CG010_HUMAN;.	C|L	331|336;288;336	.|ENSP00000312054:R336L;ENSP00000385222:R288L;ENSP00000338475:R336L	.|ENSP00000312054:R336L	G|R	+|+	1|2	0|0	C7orf10|C7orf10	40465322|40465322	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.371000|0.371000	0.29859|0.29859	5.456000|5.456000	0.66665|0.66665	1.404000|1.404000	0.46819|0.46819	0.650000|0.650000	0.86243|0.86243	GGT|CGG		0.294	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Missense_Mutation	7	36	1	0	2.0095e-06	1	2.09215e-06	7	36				
OGDHL	55753	broad.mit.edu	37	10	50955215	50955215	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:50955215C>G	ENST00000374103.4	-	9	1112	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.E286Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.E134Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	343					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGATCCTCTCATGGTACATG	0.582																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1027-1029)Gag>Cag		oxoglutarate dehydrogenase-like							267.0	221.0	237.0					10																	50955215		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955215C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1027G>C	10.37:g.50955215C>G	ENSP00000363216:p.Glu343Gln					OGDHL_ENST00000432695.1_Missense_Mutation_p.E134Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E286Q	p.E343Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1112	-			343					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1027G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200275	0.58126	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95788	-3.81;-3.81;-3.81	5.79	5.79	0.91817	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93693	0.7985	L	0.31845	0.965	0.58432	D	0.999998	B;B;B	0.28636	0.088;0.017;0.218	B;B;B	0.35278	0.086;0.06;0.199	D	0.91242	0.5022	10	0.52906	T	0.07	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	286;134;343	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	343;286;134	ENSP00000363216:E343Q;ENSP00000401356:E286Q;ENSP00000390240:E134Q	ENSP00000363216:E343Q	E	-	1	0	OGDHL	50625221	0.911000	0.30947	0.971000	0.41717	0.983000	0.72400	1.822000	0.39052	2.735000	0.93741	0.655000	0.94253	GAG		0.582	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		30	66	0	0	0	1	0	30	66				
NALCN	259232	broad.mit.edu	37	13	101944607	101944607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944607T>C	ENST00000251127.6	-	8	991	c.910A>G	c.(910-912)Act>Gct	p.T304A	NALCN_ENST00000376196.3_Missense_Mutation_p.T304A|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	304					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAATGAGAGTGATGAAATAG	0.453																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(910-912)Act>Gct		sodium leak channel, non-selective							81.0	65.0	71.0					13																	101944607		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944607T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.910A>G	13.37:g.101944607T>C	ENSP00000251127:p.Thr304Ala					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T304A	p.T304A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	991	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		304					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.910A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872170	0.91587	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98455	-4.94;-4.94	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.69248	2.105	0.80722	D	1	P;D;P	0.53312	0.95;0.959;0.793	P;P;P	0.60012	0.867;0.824;0.53	D	0.98593	1.0655	10	0.35671	T	0.21	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	304;304;304	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	A	304	ENSP00000251127:T304A;ENSP00000365367:T304A	ENSP00000251127:T304A	T	-	1	0	NALCN	100742608	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	ACT		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		20	25	0	0	0	1	0	20	25				
CYP2A6	1548	broad.mit.edu	37	19	41354558	41354558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41354558C>T	ENST00000301141.5	-	3	474	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	152					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAGCCCGCCTCCTCCTGGATG	0.701																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(454-456)Gag>Aag		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						40.0	42.0	41.0					19																	41354558		2203	4299	6502	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354558C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.454G>A	19.37:g.41354558C>T	ENSP00000301141:p.Glu152Lys					CTC-490E21.12_ENST00000601627.1_Intron	p.E152K	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	474	-			152					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.454G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	23.0	4.366734	0.82463	.	.	ENSG00000255974	ENST00000301141	T	0.70631	-0.5	2.95	1.9	0.25705	.	0.000000	0.85682	U	0.000000	T	0.77329	0.4114	M	0.86651	2.83	0.36936	D	0.892144	P	0.44478	0.836	P	0.49085	0.6	T	0.81017	-0.1123	10	0.87932	D	0	.	9.0222	0.36206	0.0:0.8823:0.0:0.1177	.	152	P11509	CP2A6_HUMAN	K	152	ENSP00000301141:E152K	ENSP00000301141:E152K	E	-	1	0	CYP2A6	46046398	1.000000	0.71417	0.858000	0.33744	0.171000	0.22731	4.996000	0.63914	0.457000	0.26962	-0.544000	0.04233	GAG		0.701	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		15	85	0	0	0	1	0	15	85				
CLVS1	157807	broad.mit.edu	37	8	62289261	62289261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:62289261G>A	ENST00000519846.1	+	4	1025	c.553G>A	c.(553-555)Gac>Aac	p.D185N	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.D185N			Q8IUQ0	CLVS1_HUMAN	clavesin 1	185	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTAATTATAGACTGGAGTAA	0.423																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(553-555)Gac>Aac		clavesin 1							78.0	78.0	78.0					8																	62289261		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62289261G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.553G>A	8.37:g.62289261G>A	ENSP00000428402:p.Asp185Asn					CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.D185N	p.D185N			Q8IUQ0	CLVS1_HUMAN			4	1025	+			185			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.553G>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810978	0.90707	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.95788	-3.81;-3.81	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.97634	1.0144	10	0.52906	T	0.07	-8.8167	19.691	0.96000	0.0:0.0:1.0:0.0	.	185	Q8IUQ0	CLVS1_HUMAN	N	185	ENSP00000428402:D185N;ENSP00000325506:D185N	ENSP00000325506:D185N	D	+	1	0	CLVS1	62451815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.671000	0.90904	0.585000	0.79938	GAC		0.423	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		26	79	0	0	0	1	0	26	79				
EPG5	57724	broad.mit.edu	37	18	43469794	43469794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:43469794C>A	ENST00000282041.5	-	28	4955	c.4921G>T	c.(4921-4923)Gaa>Taa	p.E1641*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1641					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACAGCAGCTTCCACAATATTA	0.373																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4921-4923)Gaa>Taa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							156.0	144.0	148.0					18																	43469794		1911	4126	6037	SO:0001587	stop_gained	57724				autophagy			g.chr18:43469794C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4921G>T	18.37:g.43469794C>A	ENSP00000282041:p.Glu1641*					EPG5_ENST00000585906.1_5'UTR	p.E1641*	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			28	4955	-			1641					A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	c.4921G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	46	12.330332	0.99658	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-13.3296	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	1641;516	.	ENSP00000282041:E1641X	E	-	1	0	EPG5	41723792	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.928000	0.70088	2.865000	0.98341	0.655000	0.94253	GAA		0.373	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		4	48	1	0	1.23904e-05	1	1.2834e-05	4	48				
SYCP2	10388	broad.mit.edu	37	20	58457211	58457211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:58457211G>A	ENST00000357552.3	-	27	2764	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q847*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	847					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTTTTTTCTGAACTTTTTcc	0.279																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2539-2541)Cag>Tag		synaptonemal complex protein 2							60.0	60.0	60.0					20																	58457211		2199	4297	6496	SO:0001587	stop_gained	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58457211G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2539C>T	20.37:g.58457211G>A	ENSP00000350162:p.Gln847*					SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q847*	p.Q847*			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		27	2764	-	all_lung(29;0.00344)		847					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	37	c.2539C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	41	9.104089	0.99066	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	5.11	5.11	0.69529	.	0.404560	0.21455	N	0.074278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.5908	15.8107	0.78561	0.0:0.0:1.0:0.0	.	.	.	.	X	847	.	ENSP00000350162:Q847X	Q	-	1	0	SYCP2	57890606	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.145000	0.71769	2.524000	0.85096	0.585000	0.79938	CAG		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		4	12	0	0	0	1	0	4	12				
GNAZ	2781	broad.mit.edu	37	22	23437907	23437907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:23437907G>A	ENST00000248996.4	+	2	691	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	9					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGCTCAGAGGAAAAAGAAGC	0.642																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(25-27)Gaa>Aaa		guanine nucleotide binding protein (G protein), alpha z polypeptide							21.0	23.0	23.0					22																	23437907		2199	4296	6495	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23437907G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.25G>A	22.37:g.23437907G>A	ENSP00000248996:p.Glu9Lys					RTDR1_ENST00000216036.4_Intron	p.E9K	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	691	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		9					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.25G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315663	0.95655	.	.	ENSG00000128266	ENST00000248996	D	0.89552	-2.53	5.05	4.03	0.46877	.	0.172710	0.50627	D	0.000117	D	0.83450	0.5257	L	0.45285	1.41	0.80722	D	1	B	0.29716	0.255	B	0.20384	0.029	T	0.81792	-0.0770	10	0.52906	T	0.07	.	12.8067	0.57618	0.0796:0.0:0.9204:0.0	.	9	P19086	GNAZ_HUMAN	K	9	ENSP00000248996:E9K	ENSP00000248996:E9K	E	+	1	0	GNAZ	21767907	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.531000	0.98054	1.258000	0.44101	0.655000	0.94253	GAA		0.642	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		22	49	0	0	0	1	0	22	49				
DNM1P47	100216544	broad.mit.edu	37	15	102297127	102297127	+	RNA	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:102297127C>T	ENST00000561463.1	+	0	5173									DNM1 pseudogene 47																		AGAAGACACTCGTGGAGGCGT	0.607																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102297127C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102297127C>T														0	5173	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	9	0	0	0	1	0	3	9				
ITGA8	8516	broad.mit.edu	37	10	15639277	15639277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:15639277C>T	ENST00000378076.3	-	21	2493	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	714					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCTTGTACTCACAGCTCAGT	0.478																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2140-2142)Gag>Aag		integrin, alpha 8							166.0	146.0	153.0					10																	15639277		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15639277C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2140G>A	10.37:g.15639277C>T	ENSP00000367316:p.Glu714Lys					ITGA8_ENST00000477064.1_5'UTR	p.E714K	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			21	2493	-			714					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2140G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742677	0.89573	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54675	0.56	5.71	5.71	0.89125	Integrin alpha-2 (1);	0.092039	0.64402	D	0.000001	T	0.62380	0.2423	M	0.67953	2.075	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.54544	0.641;0.755	T	0.57934	-0.7725	10	0.24483	T	0.36	.	14.0584	0.64784	0.0:0.9284:0.0:0.0716	.	699;714	F5H818;P53708	.;ITA8_HUMAN	K	714;699	ENSP00000367316:E714K	ENSP00000367316:E714K	E	-	1	0	ITGA8	15679283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.161000	0.64935	2.687000	0.91594	0.655000	0.94253	GAG		0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		55	58	0	0	0	1	0	55	58				
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547																																						ENST00000262873.7																			2	Substitution - Missense(2)	p.A671V(2)	urinary_tract(1)|lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2011-2013)gCg>gTg		myosin, heavy chain 7B, cardiac muscle, beta							85.0	93.0	90.0					20																	33577935		2093	4225	6318	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577935C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2012C>T	20.37:g.33577935C>T	ENSP00000262873:p.Ala671Val						p.A671V	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2104	+			629			Actin-binding (By similarity).|Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2012C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808473	0.16467	.	.	ENSG00000078814	ENST00000262873	D	0.87966	-2.32	4.59	4.59	0.56863	Myosin head, motor domain (2);	0.203453	0.24633	N	0.036873	T	0.73737	0.3625	N	0.19112	0.55	0.25778	N	0.984766	B	0.11235	0.004	B	0.04013	0.001	T	0.56189	-0.8020	10	0.22706	T	0.39	.	5.4356	0.16480	0.0:0.7552:0.0:0.2448	.	629	A7E2Y1	MYH7B_HUMAN	V	671	ENSP00000262873:A671V	ENSP00000262873:A671V	A	+	2	0	MYH7B	33041596	0.135000	0.22499	0.969000	0.41365	0.450000	0.32258	2.110000	0.41873	2.387000	0.81309	0.511000	0.50034	GCG		0.547	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		4	139	0	0	0	1	0	4	139				
CYP26B1	56603	broad.mit.edu	37	2	72374783	72374783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:72374783C>T	ENST00000001146.2	-	1	384	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CYP26B1_ENST00000546307.1_Missense_Mutation_p.E61K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	61					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGGCCGGTCTCTCCGATGAGC	0.721																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(181-183)Gag>Aag		cytochrome P450, family 26, subfamily B, polypeptide 1							18.0	19.0	19.0					2																	72374783		2195	4297	6492	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72374783C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.181G>A	2.37:g.72374783C>T	ENSP00000001146:p.Glu61Lys					CYP26B1_ENST00000546307.1_Missense_Mutation_p.E61K	p.E61K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			1	384	-			61					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.181G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358819	0.82353	.	.	ENSG00000003137	ENST00000001146;ENST00000546307;ENST00000474509	T;T;T	0.70631	-0.33;-0.5;-0.5	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000012	T	0.81973	0.4936	M	0.75884	2.315	0.37036	D	0.896933	B;D	0.53462	0.072;0.96	B;D	0.65573	0.097;0.936	D	0.86812	0.1999	10	0.87932	D	0	-5.6829	13.9139	0.63885	0.0:1.0:0.0:0.0	.	61;61	B7Z2K6;Q9NR63	.;CP26B_HUMAN	K	61	ENSP00000001146:E61K;ENSP00000443304:E61K;ENSP00000430888:E61K	ENSP00000001146:E61K	E	-	1	0	CYP26B1	72228291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.669000	0.68081	2.225000	0.72522	0.462000	0.41574	GAG		0.721	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		5	26	0	0	0	1	0	5	26				
ATN1	1822	broad.mit.edu	37	12	7046047	7046047	+	Silent	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:7046047G>C	ENST00000356654.4	+	5	1854	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L	ATN1_ENST00000396684.2_Silent_p.L539L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	539	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGGTCTCTGAGGCCCTACC	0.657																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1615-1617)ctG>ctC		atrophin 1							93.0	82.0	86.0					12																	7046047		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046047G>C	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1617G>C	12.37:g.7046047G>C						ATN1_ENST00000396684.2_Silent_p.L539L	p.L539L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1854	+			539			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1617G>C	CCDS31734.1																																																																																				0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		93	116	0	0	0	1	0	93	116				
GON4L	54856	broad.mit.edu	37	1	155764859	155764859	+	Missense_Mutation	SNP	G	G	A	rs547557420		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:155764859G>A	ENST00000368331.1	-	12	1777	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.R577W|GON4L_ENST00000271883.5_Missense_Mutation_p.R577W|GON4L_ENST00000361040.5_Missense_Mutation_p.R577W	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	577					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACTGCCCGGTCAGTCCGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19327	0.0		0.0	False		,,,				2504	0.001					ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1729-1731)Cgg>Tgg		gon-4-like (C. elegans)							133.0	117.0	123.0					1																	155764859		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155764859G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1729C>T	1.37:g.155764859G>A	ENSP00000357315:p.Arg577Trp					GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.R577W|GON4L_ENST00000368331.1_Missense_Mutation_p.R577W|GON4L_ENST00000271883.5_Missense_Mutation_p.R577W	p.R577W			Q3T8J9	GON4L_HUMAN			12	1851	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		577					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.1729C>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.313757	0.81358	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.26223	1.93;1.93;1.93;1.75	4.97	4.05	0.47172	.	0.079058	0.47852	D	0.000205	T	0.43612	0.1255	M	0.76838	2.35	0.51012	D	0.999901	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.997;1.0;0.999;0.999;0.999	T	0.53697	-0.8402	10	0.87932	D	0	.	15.436	0.75146	0.0:0.1397:0.8603:0.0	.	357;271;577;577;577;577	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	W	577;577;577;577;577;56	ENSP00000396117:R577W;ENSP00000357315:R577W;ENSP00000271883:R577W;ENSP00000354322:R577W	ENSP00000271883:R577W	R	-	1	2	GON4L	154031483	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.031000	0.64134	1.431000	0.47355	0.591000	0.81541	CGG		0.423	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		18	46	0	0	0	1	0	18	46				
ANKRD30B	374860	broad.mit.edu	37	18	14851927	14851927	+	Silent	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:14851927T>A	ENST00000358984.4	+	36	3807	c.3627T>A	c.(3625-3627)gcT>gcA	p.A1209A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1209										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAGGAGATGCTCCTTTGCAAG	0.393																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3625-3627)gcT>gcA		ankyrin repeat domain 30B							51.0	38.0	42.0					18																	14851927		692	1590	2282	SO:0001819	synonymous_variant	374860							g.chr18:14851927T>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3627T>A	18.37:g.14851927T>A							p.A1209A	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3807	+			1294					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3627T>A	CCDS54182.1																																																																																				0.393	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		11	9	0	0	0	1	0	11	9				
ATG4D	84971	broad.mit.edu	37	19	10663602	10663602	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:10663602C>T	ENST00000309469.4	+	10	1457	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ATG4D_ENST00000540862.1_Silent_p.F95F|RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	428					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACCCCATGTTCACCCTGGCCG	0.652																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1282-1284)ttC>ttT		autophagy related 4D, cysteine peptidase							92.0	81.0	85.0					19																	10663602		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663602C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1284C>T	19.37:g.10663602C>T						ATG4D_ENST00000540862.1_Silent_p.F95F	p.F428F	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1457	+			428					Q969K0	Silent	SNP	ENST00000309469.4	37	c.1284C>T	CCDS12241.1																																																																																				0.652	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		37	107	0	0	0	1	0	37	107				
RAPH1	65059	broad.mit.edu	37	2	204326586	204326586	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:204326586C>T	ENST00000319170.5	-	5	1094	c.795G>A	c.(793-795)gaG>gaA	p.E265E	RAPH1_ENST00000374488.2_Silent_p.E290E|RAPH1_ENST00000308091.4_Silent_p.E317E|RAPH1_ENST00000418114.1_Silent_p.E265E|RAPH1_ENST00000374489.2_Silent_p.E292E|RAPH1_ENST00000374493.3_Silent_p.E317E|RAPH1_ENST00000457812.1_Silent_p.E265E|RAPH1_ENST00000423104.1_Silent_p.E292E|RAPH1_ENST00000439222.1_Silent_p.E290E|RAPH1_ENST00000419464.1_Silent_p.E265E|RAPH1_ENST00000453034.1_Silent_p.E317E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	265					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACTTGTGCCTCTTTAATTT	0.368																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(793-795)gaG>gaA		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							133.0	124.0	127.0					2																	204326586		2202	4300	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204326586C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.795G>A	2.37:g.204326586C>T						RAPH1_ENST00000457812.1_Silent_p.E265E|RAPH1_ENST00000453034.1_Silent_p.E317E|RAPH1_ENST00000439222.1_Silent_p.E290E|RAPH1_ENST00000374489.2_Silent_p.E292E|RAPH1_ENST00000419464.1_Silent_p.E265E|RAPH1_ENST00000374488.2_Silent_p.E290E|RAPH1_ENST00000423104.1_Silent_p.E292E|RAPH1_ENST00000374493.3_Silent_p.E317E|RAPH1_ENST00000308091.4_Silent_p.E317E|RAPH1_ENST00000418114.1_Silent_p.E265E	p.E265E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			5	1094	-			265					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.795G>A	CCDS2359.1																																																																																				0.368	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		4	73	0	0	0	1	0	4	73				
LRRC49	54839	broad.mit.edu	37	15	71341787	71341787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:71341787G>A	ENST00000260382.5	+	16	2157	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	LRRC49_ENST00000560691.1_Missense_Mutation_p.E339K|LRRC49_ENST00000560369.1_Missense_Mutation_p.E638K|LRRC49_ENST00000560158.2_Missense_Mutation_p.E321K|LRRC49_ENST00000443425.2_Missense_Mutation_p.E589K|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E623K	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	633						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1897-1899)Gaa>Aaa		leucine rich repeat containing 49							64.0	69.0	67.0					15																	71341787		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71341787G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1897G>A	15.37:g.71341787G>A	ENSP00000260382:p.Glu633Lys					LRRC49_ENST00000560158.2_Missense_Mutation_p.E321K|LRRC49_ENST00000544974.2_Missense_Mutation_p.E623K|LRRC49_ENST00000443425.2_Missense_Mutation_p.E589K|LRRC49_ENST00000560369.1_Missense_Mutation_p.E638K|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.E339K	p.E633K	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			16	2157	+			633					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1897G>A	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	6.828	0.521874	0.13005	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.32753	1.45;1.45;1.44	5.11	3.15	0.36227	.	0.337573	0.31381	N	0.007756	T	0.10637	0.0260	N	0.03608	-0.345	0.29353	N	0.865232	B;B;B;B;B	0.13145	0.0;0.001;0.001;0.0;0.007	B;B;B;B;B	0.15484	0.001;0.003;0.003;0.001;0.013	T	0.26780	-1.0093	10	0.08179	T	0.78	-16.1443	6.9842	0.24719	0.0981:0.2677:0.6342:0.0	.	638;605;589;633;623	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	K	623;633;589;605	ENSP00000439600:E623K;ENSP00000260382:E633K;ENSP00000414065:E589K	ENSP00000260382:E633K	E	+	1	0	LRRC49	69128841	0.993000	0.37304	0.824000	0.32777	0.939000	0.58152	2.570000	0.45981	1.386000	0.46466	0.655000	0.94253	GAA		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		23	31	0	0	0	1	0	23	31				
CASP2	835	broad.mit.edu	37	7	142989429	142989429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142989429C>T	ENST00000310447.5	+	3	503	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000392925.2_Missense_Mutation_p.L88F|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	88	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGTGGAACTCCTCAACTTGCT	0.458																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(262-264)Ctc>Ttc		caspase 2, apoptosis-related cysteine peptidase							124.0	124.0	124.0					7																	142989429		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142989429C>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.262C>T	7.37:g.142989429C>T	ENSP00000312664:p.Leu88Phe					CASP2_ENST00000392925.2_Missense_Mutation_p.L88F|CASP2_ENST00000493642.1_3'UTR	p.L88F	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			3	503	+	Melanoma(164;0.059)		88			CARD.		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.262C>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.473461	0.84640	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.61859	0.07;0.07	5.68	5.68	0.88126	DEATH-like (2);Caspase Recruitment (3);	0.055995	0.64402	D	0.000001	T	0.80768	0.4686	M	0.88906	2.99	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83745	0.0206	10	0.72032	D	0.01	.	18.03	0.89281	0.0:1.0:0.0:0.0	.	88;88	E9PDN0;P42575	.;CASP2_HUMAN	F	88;88;57	ENSP00000312664:L88F;ENSP00000376656:L88F	ENSP00000312664:L88F	L	+	1	0	CASP2	142699551	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.736000	0.55052	2.700000	0.92200	0.650000	0.86243	CTC		0.458	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		44	42	0	0	0	1	0	44	42				
PROP1	5626	broad.mit.edu	37	5	177420034	177420034	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:177420034G>A	ENST00000308304.2	-	3	665	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	119					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGCTCTGCGGTTCTGGAACC	0.562																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(355-357)aaC>aaT		PROP paired-like homeobox 1							93.0	87.0	89.0					5																	177420034		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177420034G>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.357C>T	5.37:g.177420034G>A							p.N119N	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	665	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	119						Silent	SNP	ENST00000308304.2	37	c.357C>T	CCDS4430.1																																																																																				0.562	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		8	13	0	0	0	1	0	8	13				
ZNF486	90649	broad.mit.edu	37	19	20308487	20308487	+	Missense_Mutation	SNP	C	C	T	rs548386025		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20308487C>T	ENST00000335117.8	+	4	1025	c.968C>T	c.(967-969)aCg>aTg	p.T323M	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAACCGTACACGTGTGATAAA	0.393													A|||	1	0.000199681	0.0	0.0	5008	,	,		22048	0.001		0.0	False		,,,				2504	0.0					ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(967-969)aCg>aTg		zinc finger protein 486							47.0	52.0	50.0					19																	20308487		2181	4290	6471	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308487C>T	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.968C>T	19.37:g.20308487C>T	ENSP00000335042:p.Thr323Met					CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	p.T323M	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	1025	+			323					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.968C>T	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	-	6.420	0.445550	0.12164	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.19806	2.12	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	N	0.12853	0.265	0.09310	N	1	P	0.45986	0.87	P	0.46026	0.501	T	0.20739	-1.0266	9	0.87932	D	0	.	5.4011	0.16297	0.3957:0.6042:0.0:0.0	.	323	Q96H40	ZN486_HUMAN	M	362;323	ENSP00000335042:T323M	ENSP00000335042:T323M	T	+	2	0	ZNF486	20169487	0.000000	0.05858	0.083000	0.20561	0.082000	0.17680	-0.768000	0.04715	-1.216000	0.02607	-1.241000	0.01538	ACG		0.393	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		10	45	0	0	0	1	0	10	45				
SLC35E2B	728661	broad.mit.edu	37	1	1606915	1606915	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:1606915C>A	ENST00000378662.1	-	5	1333	c.573G>T	c.(571-573)ctG>ctT	p.L191L	SLC35E2B_ENST00000234800.6_Silent_p.L191L|RP11-345P4.7_ENST00000596308.1_RNA			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	191						integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						TGTACTCCCCCAGAATCATCC	0.632																																						ENST00000378662.1																			0				kidney(1)|lung(1)	2						c.(571-573)ctG>ctT		solute carrier family 35, member E2B							40.0	45.0	44.0					1																	1606915		686	1591	2277	SO:0001819	synonymous_variant	728661					integral to membrane		g.chr1:1606915C>A		CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"""Solute carriers"""	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.573G>T	1.37:g.1606915C>A						SLC35E2B_ENST00000234800.6_Silent_p.L191L	p.L191L			P0CK96	S352B_HUMAN			5	1333	-			191					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Silent	SNP	ENST00000378662.1	37	c.573G>T	CCDS44041.1																																																																																				0.632	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171589.1			4	8	1	0	0.00198382	1	0.00201871	4	8				
PAK1	5058	broad.mit.edu	37	11	77048372	77048372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77048372G>T	ENST00000356341.3	-	12	1744	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	PAK1_ENST00000530617.1_Missense_Mutation_p.L405I|PAK1_ENST00000528203.1_Missense_Mutation_p.L307I|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.L405I	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TACTTACTTAGCTTGACAGAG	0.453																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(1213-1215)Cta>Ata		p21 protein (Cdc42/Rac)-activated kinase 1							86.0	68.0	74.0					11																	77048372		2200	4292	6492	SO:0001583	missense	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77048372G>T	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1213C>A	11.37:g.77048372G>T	ENSP00000348696:p.Leu405Ile					PAK1_ENST00000530617.1_Missense_Mutation_p.L405I|PAK1_ENST00000278568.4_Missense_Mutation_p.L405I|PAK1_ENST00000528203.1_Missense_Mutation_p.L307I|PAK1_ENST00000525542.1_5'UTR	p.L405I	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			12	1744	-	all_cancers(14;1.75e-18)		405			Protein kinase.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	c.1213C>A	CCDS8250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.30|19.30	3.800558|3.800558	0.70567|0.70567	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|T;T;T;T	.|0.64618	.|-0.11;-0.11;-0.11;-0.11	5.55|5.55	3.27|3.27	0.37495|0.37495	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67031|0.67031	0.2850|0.2850	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.64830	.|0.95;0.994;0.873;0.984	.|D;D;D;D	.|0.78314	.|0.991;0.96;0.934;0.975	T|T	0.62296|0.62296	-0.6884|-0.6884	5|10	.|0.37606	.|T	.|0.19	.|.	9.9484|9.9484	0.41623|0.41623	0.2604:0.0:0.7396:0.0|0.2604:0.0:0.7396:0.0	.|.	.|307;405;405;405	.|E9PM17;B3KNX7;Q13153;Q13153-2	.|.;.;PAK1_HUMAN;.	D|I	126|405;405;405;307	.|ENSP00000348696:L405I;ENSP00000433423:L405I;ENSP00000278568:L405I;ENSP00000433211:L307I	.|ENSP00000278568:L405I	A|L	-|-	2|1	0|2	PAK1|PAK1	76726020|76726020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.829000|3.829000	0.55760|0.55760	0.464000|0.464000	0.27142|0.27142	0.557000|0.557000	0.71058|0.71058	GCT|CTA		0.453	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	4	1	0	2.27111e-07	1	2.39531e-07	12	4				
ZNF835	90485	broad.mit.edu	37	19	57176108	57176108	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57176108C>T	ENST00000537055.2	-	2	690	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	153					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCAGGGTCAGGTGCACGC	0.647																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(457-459)ctG>ctA		zinc finger protein 835							48.0	51.0	50.0					19																	57176108		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57176108C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.459G>A	19.37:g.57176108C>T							p.L153L	NM_001005850.2	NP_001005850.2					2	690	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.459G>A	CCDS56105.1																																																																																				0.647	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		25	73	0	0	0	1	0	25	73				
GAB1	2549	broad.mit.edu	37	4	144359510	144359510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359510C>G	ENST00000262994.4	+	4	1254	c.952C>G	c.(952-954)Cag>Gag	p.Q318E	GAB1_ENST00000505913.1_Missense_Mutation_p.Q215E|GAB1_ENST00000262995.4_Missense_Mutation_p.Q318E	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	318					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TAATACTTATCAGATTCCACG	0.438																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(952-954)Cag>Gag		GRB2-associated binding protein 1							105.0	94.0	98.0					4																	144359510		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359510C>G	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.952C>G	4.37:g.144359510C>G	ENSP00000262994:p.Gln318Glu					GAB1_ENST00000505913.1_Missense_Mutation_p.Q215E|GAB1_ENST00000262994.4_Missense_Mutation_p.Q318E	p.Q318E	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			4	1379	+	all_hematologic(180;0.158)		318					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.952C>G	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734101	0.89482	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.34072	1.38;1.38;1.38	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.75264	2.295	0.80722	D	1	D;D	0.63046	0.982;0.992	D;D	0.74674	0.952;0.984	T	0.59757	-0.7394	10	0.44086	T	0.13	-9.8483	20.063	0.97692	0.0:1.0:0.0:0.0	.	318;318	Q13480;Q13480-2	GAB1_HUMAN;.	E	318;318;215	ENSP00000262995:Q318E;ENSP00000262994:Q318E;ENSP00000424554:Q215E	ENSP00000262994:Q318E	Q	+	1	0	GAB1	144578960	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.263000	0.78421	2.735000	0.93741	0.655000	0.94253	CAG		0.438	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		15	46	0	0	0	1	0	15	46				
HDAC1	3065	broad.mit.edu	37	1	32797098	32797098	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:32797098G>A	ENST00000373548.3	+	10	1087	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HDAC1_ENST00000373541.2_Missense_Mutation_p.E142K|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	335					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGACTACTTTGAATACTTTGG	0.468																																						ENST00000373548.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(1003-1005)Gaa>Aaa		histone deacetylase 1	Vorinostat(DB02546)						98.0	88.0	91.0					1																	32797098		2203	4300	6503	SO:0001583	missense	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32797098G>A	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1003G>A	1.37:g.32797098G>A	ENSP00000362649:p.Glu335Lys					HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.E142K	p.E335K	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	10	1087	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	335					Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	c.1003G>A	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739299	0.69304	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.76186	-1.0;-1.0	4.17	4.17	0.49024	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.89163	3.01	0.80722	D	1	P	0.48089	0.905	P	0.49012	0.598	D	0.87786	0.2615	10	0.62326	D	0.03	-23.2646	17.3634	0.87357	0.0:0.0:1.0:0.0	.	335	Q13547	HDAC1_HUMAN	K	335;142	ENSP00000362649:E335K;ENSP00000362642:E142K	ENSP00000362642:E142K	E	+	1	0	HDAC1	32569685	1.000000	0.71417	0.997000	0.53966	0.770000	0.43624	9.709000	0.98729	2.276000	0.75962	0.563000	0.77884	GAA		0.468	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		28	46	0	0	0	1	0	28	46				
CHD6	84181	broad.mit.edu	37	20	40045370	40045370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:40045370G>A	ENST00000373233.3	-	33	6521	c.6344C>T	c.(6343-6345)tCt>tTt	p.S2115F	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2115					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCTGGCTAGAGGGCCACTT	0.517																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6343-6345)tCt>tTt		chromodomain helicase DNA binding protein 6							53.0	45.0	47.0					20																	40045370		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045370G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6344C>T	20.37:g.40045370G>A	ENSP00000362330:p.Ser2115Phe						p.S2115F	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			33	6521	-		Myeloproliferative disorder(115;0.00425)	2115					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6344C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489350	0.84962	.	.	ENSG00000124177	ENST00000373233	D	0.87491	-2.26	5.57	4.61	0.57282	.	0.103017	0.44097	D	0.000486	D	0.88396	0.6425	M	0.72894	2.215	0.80722	D	1	P	0.42123	0.771	B	0.43575	0.424	D	0.89602	0.3835	10	0.72032	D	0.01	-6.2748	16.4189	0.83752	0.0:0.136:0.864:0.0	.	2115	Q8TD26	CHD6_HUMAN	F	2115	ENSP00000362330:S2115F	ENSP00000362330:S2115F	S	-	2	0	CHD6	39478784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.351000	0.59398	1.452000	0.47756	0.655000	0.94253	TCT		0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	20	0	0	0	1	0	10	20				
CCDC39	339829	broad.mit.edu	37	3	180397135	180397135	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397135C>T	ENST00000442201.2	-	1	153	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Missense_Mutation_p.E96K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	12					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACCCATCCTCCCAGTGCAGC	0.547																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(286-288)Gag>Aag		coiled-coil domain containing 39							152.0	150.0	151.0					3																	180397135		1990	4177	6167	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397135C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.34G>A	3.37:g.180397135C>T	ENSP00000405708:p.Glu12Lys					CCDC39_ENST00000442201.2_Missense_Mutation_p.E12K	p.E96K			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	905	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		12					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.286G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180879	0.78677	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.59	5.59	0.84812	.	0.250183	0.44688	D	0.000428	T	0.54854	0.1884	L	0.57536	1.79	0.36637	D	0.876619	P	0.40834	0.73	B	0.36845	0.234	T	0.66536	-0.5899	9	0.54805	T	0.06	-5.9946	16.3096	0.82864	0.0:1.0:0.0:0.0	.	12	Q9UFE4	CCD39_HUMAN	K	96;12	.	ENSP00000273654:E96K	E	-	1	0	CCDC39	181879829	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.989000	0.56958	2.629000	0.89072	0.655000	0.94253	GAG		0.547	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		138	254	0	0	0	1	0	138	254				
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309366G>C	ENST00000366476.1	+	1	917	c.917G>C	c.(916-918)gGa>gCa	p.G306A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(916-918)gGa>gCa		olfactory receptor, family 2, subfamily M, member 5							55.0	51.0	53.0					1																	248309366		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309366G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.917G>C	1.37:g.248309366G>C	ENSP00000355432:p.Gly306Ala						p.G306A	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	917	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		306						Missense_Mutation	SNP	ENST00000366476.1	37	c.917G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	6.213	0.407440	0.11754	.	.	ENSG00000162727	ENST00000366476	T	0.38401	1.14	2.85	0.637	0.17735	.	.	.	.	.	T	0.22475	0.0542	L	0.41492	1.28	0.09310	N	1	B	0.34264	0.446	B	0.29524	0.103	T	0.14008	-1.0488	9	0.34782	T	0.22	.	3.7334	0.08502	0.1579:0.0:0.6005:0.2417	.	306	A3KFT3	OR2M5_HUMAN	A	306	ENSP00000355432:G306A	ENSP00000355432:G306A	G	+	2	0	OR2M5	246375989	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.839000	0.04368	0.231000	0.21079	0.385000	0.25706	GGA		0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		7	30	0	0	0	1	0	7	30				
DENND5A	23258	broad.mit.edu	37	11	9187469	9187469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:9187469G>C	ENST00000328194.3	-	11	2517	c.2197C>G	c.(2197-2199)Ccc>Gcc	p.P733A	DENND5A_ENST00000527700.1_Missense_Mutation_p.P76A|DENND5A_ENST00000530044.1_Missense_Mutation_p.P733A	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	733					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACAGTTTGGGCTGGCGGATA	0.468																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2197-2199)Ccc>Gcc		DENN/MADD domain containing 5A							158.0	145.0	149.0					11																	9187469		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9187469G>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2197C>G	11.37:g.9187469G>C	ENSP00000328524:p.Pro733Ala					DENND5A_ENST00000530044.1_Missense_Mutation_p.P733A|DENND5A_ENST00000527700.1_Missense_Mutation_p.P76A	p.P733A	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			11	2517	-			733					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2197C>G	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260912	0.59431	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.17528	3.78;3.77;2.27	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.46157	1.445	0.80722	D	1	B;B	0.31351	0.014;0.32	B;B	0.37091	0.023;0.241	T	0.03807	-1.1002	10	0.10377	T	0.69	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	733;733	E9PS91;Q6IQ26	.;DEN5A_HUMAN	A	733;733;76	ENSP00000328524:P733A;ENSP00000435866:P733A;ENSP00000432549:P76A	ENSP00000328524:P733A	P	-	1	0	DENND5A	9144045	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	CCC		0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		32	59	0	0	0	1	0	32	59				
PLEKHG4B	153478	broad.mit.edu	37	5	171220	171220	+	Silent	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:171220C>G	ENST00000283426.6	+	13	2774	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	908	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATGCCCTGCTCAGCAGCCATG	0.632																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2722-2724)ctC>ctG		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							91.0	88.0	89.0					5																	171220		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171220C>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2724C>G	5.37:g.171220C>G							p.L908L	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	13	2774	+			908			DH.			Silent	SNP	ENST00000283426.6	37	c.2724C>G	CCDS34124.1																																																																																				0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		27	31	0	0	0	1	0	27	31				
SLC25A12	8604	broad.mit.edu	37	2	172641936	172641936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:172641936G>A	ENST00000422440.2	-	18	1922	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P522S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	629					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGGCAGGAGGAAGGTCTGCA	0.493																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1885-1887)Cct>Tct		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						209.0	188.0	195.0					2																	172641936		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641936G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1885C>T	2.37:g.172641936G>A	ENSP00000388658:p.Pro629Ser					SLC25A12_ENST00000392592.4_Missense_Mutation_p.P522S	p.P629S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1922	-			629					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1885C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254761	0.59212	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.77877	-1.13;-1.1	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.61218	1.895	0.80722	D	1	B;B	0.25563	0.129;0.129	B;B	0.20184	0.028;0.028	T	0.70260	-0.4921	10	0.18276	T	0.48	-15.2344	20.547	0.99278	0.0:0.0:1.0:0.0	.	522;629	B3KR64;O75746	.;CMC1_HUMAN	S	629;522	ENSP00000388658:P629S;ENSP00000376371:P522S	ENSP00000376371:P522S	P	-	1	0	SLC25A12	172350182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.850000	0.98022	0.650000	0.86243	CCT		0.493	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		34	112	0	0	0	1	0	34	112				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	73	0	0	0	1	0	4	73				
KIF4B	285643	broad.mit.edu	37	5	154396626	154396626	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396626T>C	ENST00000435029.4	+	1	3367	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1069	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGGGGATGATGAGGAATGGA	0.483																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3205-3207)gaT>gaC		kinesin family member 4B							133.0	124.0	127.0					5																	154396626		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396626T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3207T>C	5.37:g.154396626T>C							p.D1069D	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3367	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1069			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3207T>C	CCDS47324.1																																																																																				0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			6	31	0	0	0	1	0	6	31				
CLTC	1213	broad.mit.edu	37	17	57762435	57762435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57762435G>A	ENST00000269122.3	+	29	4727	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N	CLTC_ENST00000393043.1_Missense_Mutation_p.D1485N|CLTC_ENST00000579456.1_Missense_Mutation_p.D422N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1485	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AACATCAATAGATGCTTATGA	0.373			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(4453-4455)Gat>Aat		clathrin, heavy chain (Hc)							106.0	111.0	109.0					17																	57762435		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57762435G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4453G>A	17.37:g.57762435G>A	ENSP00000269122:p.Asp1485Asn					CLTC_ENST00000579456.1_Missense_Mutation_p.D422N|CLTC_ENST00000393043.1_Missense_Mutation_p.D1485N	p.D1485N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			29	4727	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1485			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.4453G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396920	0.83120	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18960	2.18;2.18	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	M	0.85041	2.73	0.80722	D	1	B;B	0.13594	0.008;0.007	B;B	0.32624	0.149;0.076	T	0.36016	-0.9765	10	0.52906	T	0.07	.	19.268	0.93997	0.0:0.0:1.0:0.0	.	1485;1485	Q00610;Q00610-2	CLH1_HUMAN;.	N	1485	ENSP00000269122:D1485N;ENSP00000376763:D1485N	ENSP00000269122:D1485N	D	+	1	0	CLTC	55117217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.622000	0.88805	0.650000	0.86243	GAT		0.373	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		27	109	0	0	0	1	0	27	109				
STRADA	92335	broad.mit.edu	37	17	61791450	61791450	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:61791450C>G	ENST00000336174.6	-	5	254	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.E11Q|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.E19Q|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	48					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GCTATTGACTCTGAGCTCGCA	0.483																																						ENST00000392950.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(31-33)Gag>Cag		STE20-related kinase adaptor alpha							134.0	112.0	119.0					17																	61791450		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61791450C>G	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.142G>C	17.37:g.61791450C>G	ENSP00000336655:p.Glu48Gln					STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.E19Q|STRADA_ENST00000580039.1_Intron|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E48Q	p.E11Q	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN			3	304	-			48					B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.31G>C	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093732	0.56075	.	.	ENSG00000125695	ENST00000336174;ENST00000392950;ENST00000245865	T;T	0.56941	0.54;0.43	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.060266	0.64402	D	0.000003	T	0.55401	0.1918	L	0.27053	0.805	0.80722	D	1	P;D;P;P	0.59767	0.886;0.986;0.839;0.886	B;P;P;B	0.54590	0.398;0.756;0.506;0.398	T	0.49799	-0.8901	10	0.30854	T	0.27	.	19.7543	0.96284	0.0:1.0:0.0:0.0	.	19;11;11;48	B4DW17;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;STRAA_HUMAN	Q	48;11;10	ENSP00000336655:E48Q;ENSP00000376677:E11Q	ENSP00000245865:E10Q	E	-	1	0	STRADA	59145182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.001000	0.76297	2.680000	0.91292	0.561000	0.74099	GAG		0.483	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			32	117	0	0	0	1	0	32	117				
AMD1	262	broad.mit.edu	37	6	111210179	111210179	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210179C>G	ENST00000368885.3	+	3	653	c.317C>G	c.(316-318)tCa>tGa	p.S106*	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Nonsense_Mutation_p.S37*|AMD1_ENST00000368877.5_Nonsense_Mutation_p.S77*	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	106					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGGTTTGACTCAATTCAAGTA	0.368																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(316-318)tCa>tGa		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						88.0	81.0	83.0					6																	111210179		2203	4300	6503	SO:0001587	stop_gained	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210179C>G	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.317C>G	6.37:g.111210179C>G	ENSP00000357880:p.Ser106*					AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Nonsense_Mutation_p.S77*|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Nonsense_Mutation_p.S37*	p.S106*	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	653	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	106					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Nonsense_Mutation	SNP	ENST00000368885.3	37	c.317C>G	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804066	0.96967	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.55	5.55	0.83447	.	0.271281	0.35646	N	0.003077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	15.0429	0.71805	0.0:0.8583:0.1417:0.0	.	.	.	.	X	106;77;37	.	ENSP00000357870:S37X	S	+	2	0	AMD1	111316872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.447000	0.60020	2.611000	0.88343	0.591000	0.81541	TCA		0.368	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			38	48	0	0	0	1	0	38	48				
C11orf24	53838	broad.mit.edu	37	11	68030356	68030356	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:68030356C>G	ENST00000304271.6	-	4	509	c.107G>C	c.(106-108)gGa>gCa	p.G36A	C11orf24_ENST00000533310.1_Missense_Mutation_p.G36A|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	36						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTTGACTAATCCCTTCCACAT	0.433																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(106-108)gGa>gCa		chromosome 11 open reading frame 24							80.0	71.0	74.0					11																	68030356		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68030356C>G	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.107G>C	11.37:g.68030356C>G	ENSP00000307264:p.Gly36Ala					C11orf24_ENST00000533310.1_Missense_Mutation_p.G36A|C11orf24_ENST00000530166.1_5'UTR	p.G36A	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	509	-			36					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.107G>C	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637366	0.14386	.	.	ENSG00000171067	ENST00000304271;ENST00000533310	T	0.29397	1.57	3.2	-3.66	0.04489	.	3.298640	0.01036	N	0.004237	T	0.20820	0.0501	L	0.36672	1.1	0.09310	N	1	B;B	0.18741	0.03;0.011	B;B	0.10450	0.005;0.005	T	0.09422	-1.0675	10	0.39692	T	0.17	13.2761	1.299	0.02076	0.2128:0.1454:0.4214:0.2203	.	36;36	E9PRU5;Q96F05	.;CK024_HUMAN	A	36	ENSP00000307264:G36A	ENSP00000307264:G36A	G	-	2	0	C11orf24	67786932	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.081000	0.03403	-0.777000	0.04572	0.460000	0.39030	GGA		0.433	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		19	130	0	0	0	1	0	19	130				
GNA13	10672	broad.mit.edu	37	17	63010817	63010817	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:63010817T>A	ENST00000439174.2	-	4	937	c.692A>T	c.(691-693)aAa>aTa	p.K231I	GNA13_ENST00000541118.1_Missense_Mutation_p.K136I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	231					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AAACCAACGTTTCCTTTCTGA	0.408																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(691-693)aAa>aTa		guanine nucleotide binding protein (G protein), alpha 13							106.0	96.0	100.0					17																	63010817		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010817T>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.692A>T	17.37:g.63010817T>A	ENSP00000400717:p.Lys231Ile					GNA13_ENST00000541118.1_Missense_Mutation_p.K136I	p.K231I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	937	-			231					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.692A>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155401	0.57259	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.90732	-2.72;-2.72	6.14	6.14	0.99180	.	0.045297	0.85682	D	0.000000	D	0.94561	0.8248	M	0.91920	3.255	0.47547	D	0.999458	B	0.34313	0.448	B	0.43680	0.427	D	0.94644	0.7833	10	0.87932	D	0	.	16.4674	0.84083	0.0:0.0:0.0:1.0	.	231	Q14344	GNA13_HUMAN	I	231;136;206	ENSP00000400717:K231I;ENSP00000439647:K136I	ENSP00000239138:K206I	K	-	2	0	GNA13	60441279	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.609000	0.61148	2.367000	0.80283	0.529000	0.55759	AAA		0.408	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		39	76	0	0	0	1	0	39	76				
RASL10A	10633	broad.mit.edu	37	22	29708410	29708410	+	IGR	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:29708410C>G	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.S430C|GAS2L1_ENST00000407647.2_3'UTR|RASL10A_ENST00000608559.1_5'Flank	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CGCCGCCCCTCCGGACCCGCA	0.667																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1288-1290)tCc>tGc		growth arrest-specific 2 like 1							20.0	25.0	23.0					22																	29708410		1933	4127	6060	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708410C>G	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708410C>G						GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	p.S430C			Q99501	GA2L1_HUMAN			6	1439	+			657					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1289C>G	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	8.283	0.815988	0.16607	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.47869	0.83	4.18	4.18	0.49190	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.25702	N	0.985576	P;P;P	0.46327	0.876;0.876;0.876	B;B;B	0.40199	0.322;0.322;0.322	T	0.29336	-1.0015	8	0.44086	T	0.13	-2.0183	13.5523	0.61738	0.0:1.0:0.0:0.0	.	430;657;657	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	C	656;430	ENSP00000383995:S430C	ENSP00000332834:S656C	S	+	2	0	GAS2L1	28038410	0.001000	0.12720	0.124000	0.21820	0.171000	0.22731	1.412000	0.34714	2.167000	0.68274	0.491000	0.48974	TCC		0.667	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			15	63	0	0	0	1	0	15	63				
UCMA	221044	broad.mit.edu	37	10	13275760	13275760	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:13275760C>T	ENST00000378681.3	-	2	171	c.99G>A	c.(97-99)caG>caA	p.Q33Q	UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	33					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CTCCCGCCATCTGCATGGTGC	0.647																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(97-99)caG>caA		upper zone of growth plate and cartilage matrix associated							98.0	83.0	88.0					10																	13275760		2203	4300	6503	SO:0001819	synonymous_variant	221044					proteinaceous extracellular matrix		g.chr10:13275760C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.99G>A	10.37:g.13275760C>T						UCMA_ENST00000463405.2_Intron	p.Q33Q	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			2	171	-			33						Silent	SNP	ENST00000378681.3	37	c.99G>A	CCDS31147.1																																																																																				0.647	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		91	89	0	0	0	1	0	91	89				
CSRNP2	81566	broad.mit.edu	37	12	51467696	51467696	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:51467696G>A	ENST00000228515.1	-	3	618	c.321C>T	c.(319-321)ctC>ctT	p.L107L	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	107					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAAACTCACAGAGTGTATAGC	0.537																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(319-321)ctC>ctT		cysteine-serine-rich nuclear protein 2							90.0	89.0	89.0					12																	51467696		2203	4300	6503	SO:0001819	synonymous_variant	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467696G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.321C>T	12.37:g.51467696G>A							p.L107L	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	618	-			107						Silent	SNP	ENST00000228515.1	37	c.321C>T	CCDS8807.1																																																																																				0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			37	68	0	0	0	1	0	37	68				
SEMA4F	10505	broad.mit.edu	37	2	74881556	74881556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:74881556C>T	ENST00000357877.2	+	1	202	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S18L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	18					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTACAGCCTCGCCCTTCCCG	0.731																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(52-54)tCg>tTg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							4.0	5.0	5.0					2																	74881556		1989	3933	5922	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74881556C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.53C>T	2.37:g.74881556C>T	ENSP00000350547:p.Ser18Leu					SEMA4F_ENST00000339773.5_Missense_Mutation_p.S18L	p.S18L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			1	202	+			18					Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.53C>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113692	0.56398	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.23950	2.22;2.01;1.88;1.92	3.98	0.364	0.16124	.	2.506980	0.01682	N	0.026230	T	0.15478	0.0373	N	0.19112	0.55	0.09310	N	1	B;B;B;P	0.47962	0.002;0.0;0.0;0.903	B;B;B;B	0.36030	0.001;0.0;0.0;0.216	T	0.18903	-1.0322	10	0.59425	D	0.04	.	4.8767	0.13660	0.0:0.6199:0.1934:0.1867	.	18;18;18;18	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	L	18	ENSP00000350547:S18L;ENSP00000342675:S18L;ENSP00000407698:S18L;ENSP00000409141:S18L	ENSP00000342675:S18L	S	+	2	0	SEMA4F	74735064	0.000000	0.05858	0.139000	0.22197	0.585000	0.36419	-0.811000	0.04500	-0.045000	0.13468	0.462000	0.41574	TCG		0.731	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		5	6	0	0	0	1	0	5	6				
KIF4B	285643	broad.mit.edu	37	5	154396704	154396704	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396704G>A	ENST00000435029.4	+	1	3445	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1095	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGGTGTGGGAACAAGCAGT	0.532																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3283-3285)ggG>ggA		kinesin family member 4B							170.0	146.0	154.0					5																	154396704		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396704G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3285G>A	5.37:g.154396704G>A							p.G1095G	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3445	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1095			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3285G>A	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			9	34	0	0	0	1	0	9	34				
LOC644669	644669	broad.mit.edu	37	18	15316720	15316720	+	RNA	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:15316720C>G	ENST00000455308.2	-	0	703					NR_027417.1																						GGTGTTCTTTCTGCCAAGGGT	0.418																																						ENST00000455308.2																			0																																																			644669							g.chr18:15316720C>G																													18.37:g.15316720C>G								NR_027417.1						0	703	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.418	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	8	0	0	0	1	0	4	8				
ASB1	51665	broad.mit.edu	37	2	239353338	239353338	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:239353338G>A	ENST00000264607.4	+	4	1097	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ASB1_ENST00000409297.1_Missense_Mutation_p.E183K	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	284					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AGTGGACCCTGAGGCCTTGCA	0.493																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(850-852)Gag>Aag		ankyrin repeat and SOCS box containing 1							62.0	70.0	68.0					2																	239353338		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239353338G>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.850G>A	2.37:g.239353338G>A	ENSP00000264607:p.Glu284Lys					ASB1_ENST00000409297.1_Missense_Mutation_p.E183K	p.E284K	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	4	1097	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	284					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.850G>A	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272728	0.80580	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.59772	0.24;1.84	5.77	3.98	0.46160	Ankyrin repeat-containing domain (1);	0.222920	0.46442	N	0.000293	T	0.49321	0.1550	L	0.52266	1.64	0.52501	D	0.999952	B	0.14012	0.009	B	0.09377	0.004	T	0.37619	-0.9698	9	.	.	.	.	12.187	0.54245	0.1368:0.0:0.8632:0.0	.	284	Q9Y576	ASB1_HUMAN	K	284;183	ENSP00000264607:E284K;ENSP00000387025:E183K	.	E	+	1	0	ASB1	239018077	1.000000	0.71417	0.901000	0.35422	0.968000	0.65278	7.303000	0.78871	0.791000	0.33826	0.561000	0.74099	GAG		0.493	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		55	62	0	0	0	1	0	55	62				
MNDA	4332	broad.mit.edu	37	1	158815627	158815627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158815627G>A	ENST00000368141.4	+	5	1082	c.821G>A	c.(820-822)tGt>tAt	p.C274Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	274	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACTCTGAATGTAAAGGAGTA	0.343																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(820-822)tGt>tAt		myeloid cell nuclear differentiation antigen							75.0	77.0	77.0					1																	158815627		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815627G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.821G>A	1.37:g.158815627G>A	ENSP00000357123:p.Cys274Tyr						p.C274Y	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	1082	+	all_hematologic(112;0.0378)		274			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.821G>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.877497	0.00537	.	.	ENSG00000163563	ENST00000368141	T	0.13778	2.56	4.28	-2.58	0.06228	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.925349	0.08927	N	0.873613	T	0.01835	0.0058	L	0.39085	1.19	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.45220	-0.9276	10	0.02654	T	1	1.4173	4.5235	0.11971	0.5237:0.0:0.3144:0.1619	.	274	P41218	MNDA_HUMAN	Y	274	ENSP00000357123:C274Y	ENSP00000357123:C274Y	C	+	2	0	MNDA	157082251	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.264000	0.02847	-0.372000	0.07992	-0.140000	0.14226	TGT		0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		4	51	0	0	0	1	0	4	51				
KIF4B	285643	broad.mit.edu	37	5	154396756	154396756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396756A>T	ENST00000435029.4	+	1	3497	c.3337A>T	c.(3337-3339)Agc>Tgc	p.S1113C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1113	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGGACTGTAGCTGTGACCC	0.552																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3337-3339)Agc>Tgc		kinesin family member 4B							184.0	156.0	166.0					5																	154396756		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396756A>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3337A>T	5.37:g.154396756A>T	ENSP00000387875:p.Ser1113Cys						p.S1113C	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3497	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1113			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3337A>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	A	5.056	0.196047	0.09599	.	.	ENSG00000226650	ENST00000435029	D	0.90069	-2.61	2.43	-0.125	0.13519	.	.	.	.	.	T	0.81079	0.4748	L	0.47716	1.5	0.26051	N	0.981475	B	0.06786	0.001	B	0.01281	0.0	T	0.66019	-0.6027	9	0.36615	T	0.2	.	2.2228	0.03977	0.3746:0.0:0.1546:0.4708	.	1113	Q2VIQ3	KIF4B_HUMAN	C	1113	ENSP00000387875:S1113C	ENSP00000387875:S1113C	S	+	1	0	KIF4B	154376949	0.925000	0.31364	0.422000	0.26621	0.758000	0.43043	0.293000	0.19029	0.130000	0.18549	-0.433000	0.05886	AGC		0.552	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			14	56	0	0	0	1	0	14	56				
SIRPB1	10326	broad.mit.edu	37	20	1592121	1592121	+	Intron	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:1592121G>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.I105M|SIRPB1_ENST00000568365.1_Missense_Mutation_p.I105M	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTGATGCGGATGGAAAAGT	0.512																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(313-315)atC>atG		signal-regulatory protein beta 1							107.0	123.0	119.0					20																	1592121		448	1340	1788	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592121G>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8393C>G	20.37:g.1592121G>C						SIRPB1_ENST00000568365.1_Missense_Mutation_p.I105M|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.I105M	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	379	-			105			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.315C>G	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	7.005	0.555655	0.13436	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.02236	4.38	2.65	0.506	0.16961	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11067	0.0270	M	0.89904	3.07	0.52501	D	0.99995	D	0.89917	1.0	D	0.85130	0.997	T	0.01626	-1.1309	9	0.72032	D	0.01	.	3.3419	0.07122	0.1495:0.0:0.6:0.2505	.	105	Q5TFQ8	SIRBL_HUMAN	M	105	ENSP00000279477:I105M	ENSP00000279477:I105M	I	-	3	3	SIRPB1	1540121	0.948000	0.32251	0.311000	0.25182	0.021000	0.10359	1.407000	0.34657	0.010000	0.14839	-0.507000	0.04495	ATC		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		51	34	0	0	0	1	0	51	34				
CC2D1A	54862	broad.mit.edu	37	19	14023231	14023231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:14023231G>A	ENST00000318003.7	+	3	533	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E98K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	98					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGACGACTTGGAGGCTGATGA	0.627																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(292-294)Gag>Aag		coiled-coil and C2 domain containing 1A							70.0	80.0	77.0					19																	14023231		2156	4253	6409	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14023231G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.292G>A	19.37:g.14023231G>A	ENSP00000313601:p.Glu98Lys					CC2D1A_ENST00000589606.1_Missense_Mutation_p.E98K	p.E98K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		3	533	+			98					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.292G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970753	0.53614	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.28255	1.62	4.58	4.58	0.56647	.	0.455913	0.21895	N	0.067525	T	0.53722	0.1814	M	0.80332	2.49	0.58432	D	0.999993	D;P	0.63880	0.993;0.956	P;P	0.58520	0.84;0.549	T	0.60209	-0.7308	10	0.54805	T	0.06	-24.4473	16.512	0.84288	0.0:0.0:1.0:0.0	.	98;98	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	K	98;73	ENSP00000313601:E98K	ENSP00000313601:E98K	E	+	1	0	CC2D1A	13884231	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	6.898000	0.75676	2.277000	0.76020	0.650000	0.86243	GAG		0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		13	23	0	0	0	1	0	13	23				
HRNR	388697	broad.mit.edu	37	1	152191927	152191927	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:152191927G>A	ENST00000368801.2	-	3	2253	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	726					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTTTCTGTAGCCGGAGG	0.552																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2176-2178)taC>taT		hornerin							199.0	199.0	199.0					1																	152191927		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191927G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2178C>T	1.37:g.152191927G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y726Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2253	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		726					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2178C>T	CCDS30859.1																																																																																				0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		21	290	0	0	0	1	0	21	290				
OR10K2	391107	broad.mit.edu	37	1	158390379	158390379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158390379G>C	ENST00000314902.2	-	1	277	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCCCAGGAAAGAAATGGTCTT	0.478																																						ENST00000314902.2																			1	Substitution - Missense(1)	p.S93Y(1)	large_intestine(1)	NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(277-279)tCt>tGt		olfactory receptor, family 10, subfamily K, member 2							178.0	174.0	175.0					1																	158390379		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390379G>C	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.278C>G	1.37:g.158390379G>C	ENSP00000324251:p.Ser93Cys						p.S93C	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	277	-	all_hematologic(112;0.0378)		93						Missense_Mutation	SNP	ENST00000314902.2	37	c.278C>G	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052660	0.36181	.	.	ENSG00000180708	ENST00000314902	T	0.00745	5.75	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.04003	0.0112	H	0.96142	3.775	0.34550	D	0.711218	D	0.76494	0.999	P	0.62813	0.907	T	0.02457	-1.1156	10	0.87932	D	0	.	15.5895	0.76517	0.0:0.0:1.0:0.0	.	93	Q6IF99	O10K2_HUMAN	C	93	ENSP00000324251:S93C	ENSP00000324251:S93C	S	-	2	0	OR10K2	156657003	1.000000	0.71417	0.978000	0.43139	0.315000	0.28087	7.168000	0.77570	2.265000	0.75225	0.467000	0.42956	TCT		0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		68	51	0	0	0	1	0	68	51				
JUNB	3726	broad.mit.edu	37	19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903392C>G	ENST00000302754.4	+	1	1083	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	269	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AAGAGCGCATCAAAGTGGAGC	0.682																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(805-807)atC>atG		jun B proto-oncogene							8.0	9.0	9.0					19																	12903392		2130	4221	6351	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903392C>G	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.807C>G	19.37:g.12903392C>G	ENSP00000303315:p.Ile269Met						p.I269M	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1083	+			269					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.807C>G	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714701	0.68730	.	.	ENSG00000171223	ENST00000302754	T	0.56275	0.47	4.02	2.98	0.34508	Basic-leucine zipper (bZIP) transcription factor (2);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.72128	0.3422	M	0.84585	2.705	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.74423	-0.3670	10	0.87932	D	0	-10.3219	10.3205	0.43762	0.0:0.8996:0.0:0.1004	.	269	P17275	JUNB_HUMAN	M	269	ENSP00000303315:I269M	ENSP00000303315:I269M	I	+	3	3	JUNB	12764392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.853000	0.55941	0.684000	0.31448	0.448000	0.29417	ATC		0.682	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		3	6	0	0	0	1	0	3	6				
GAB1	2549	broad.mit.edu	37	4	144359528	144359528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359528C>G	ENST00000262994.4	+	4	1272	c.970C>G	c.(970-972)Cca>Gca	p.P324A	GAB1_ENST00000505913.1_Missense_Mutation_p.P221A|GAB1_ENST00000262995.4_Missense_Mutation_p.P324A	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	324					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACGAACATTTCCAGAAGGAAC	0.453																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(970-972)Cca>Gca		GRB2-associated binding protein 1							117.0	102.0	107.0					4																	144359528		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359528C>G	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.970C>G	4.37:g.144359528C>G	ENSP00000262994:p.Pro324Ala					GAB1_ENST00000505913.1_Missense_Mutation_p.P221A|GAB1_ENST00000262994.4_Missense_Mutation_p.P324A	p.P324A	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			4	1397	+	all_hematologic(180;0.158)		324					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.970C>G	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091889	0.36952	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.15017	2.46;2.46;2.46	5.8	4.95	0.65309	.	0.315157	0.35407	N	0.003225	T	0.15565	0.0375	L	0.47716	1.5	0.34545	D	0.710671	B;B	0.17667	0.005;0.023	B;B	0.16289	0.002;0.015	T	0.16719	-1.0393	10	0.05721	T	0.95	-6.6	16.7881	0.85579	0.0:0.871:0.129:0.0	.	324;324	Q13480;Q13480-2	GAB1_HUMAN;.	A	324;324;221	ENSP00000262995:P324A;ENSP00000262994:P324A;ENSP00000424554:P221A	ENSP00000262994:P324A	P	+	1	0	GAB1	144578978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.916000	0.56416	1.417000	0.47077	0.655000	0.94253	CCA		0.453	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		19	47	0	0	0	1	0	19	47				
OSTF1	26578	broad.mit.edu	37	9	77755829	77755829	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:77755829G>A	ENST00000346234.6	+	9	717	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	189					ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						CATCTCTCCTGAAAAAGAAAC	0.403																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(565-567)ctG>ctA		osteoclast stimulating factor 1							118.0	118.0	118.0					9																	77755829		2203	4300	6503	SO:0001819	synonymous_variant	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77755829G>A	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.567G>A	9.37:g.77755829G>A							p.L189L	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			9	717	+			189					Q5W126|Q96IJ4	Silent	SNP	ENST00000346234.6	37	c.567G>A	CCDS6651.1																																																																																				0.403	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		42	25	0	0	0	1	0	42	25				
BORA	79866	broad.mit.edu	37	13	73305435	73305435	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:73305435G>C	ENST00000390667.5	+	3	267	c.170G>C	c.(169-171)aGa>aCa	p.R57T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	57					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GGGAAATTTAGATGGTCTATT	0.323																																						ENST00000390667.5																			0											c.(169-171)aGa>aCa		bora, aurora kinase A activator							102.0	94.0	96.0					13																	73305435		1809	4079	5888	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73305435G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.170G>C	13.37:g.73305435G>C	ENSP00000375082:p.Arg57Thr					BORA_ENST00000377815.3_Intron|BORA_ENST00000464754.1_3'UTR	p.R57T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			3	267	+			57					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.170G>C	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.102380|4.102380	0.76983|0.76983	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000390667|ENST00000377814	T|.	0.35236|.	1.32|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.131922|.	0.64402|.	D|.	0.000001|.	T|.	0.71169|.	0.3308|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.991;0.991|.	P;P|.	0.60541|.	0.876;0.876|.	T|.	0.67241|.	-0.5720|.	10|.	0.62326|.	D|.	0.03|.	-24.4438|-24.4438	18.4912|18.4912	0.90848|0.90848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57;57|.	A8K631;Q6PGQ7|.	.;BORA_HUMAN|.	T|Y	57|34	ENSP00000375082:R57T|.	ENSP00000375082:R57T|.	R|X	+|+	2|3	0|2	BORA|BORA	72203436|72203436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.281000|5.281000	0.65609|0.65609	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	AGA|TAG		0.323	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		17	98	0	0	0	1	0	17	98				
KLHL38	340359	broad.mit.edu	37	8	124664957	124664957	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:124664957C>T	ENST00000325995.7	-	1	233	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGGCTTCACTCTTCTCCCGGA	0.597																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(208-210)aaG>aaA		kelch-like family member 38							69.0	76.0	74.0					8																	124664957		2063	4198	6261	SO:0001819	synonymous_variant	340359							g.chr8:124664957C>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.210G>A	8.37:g.124664957C>T						CTD-2552K11.2_ENST00000524355.1_RNA	p.K70K	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	233	-			70			BTB.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.210G>A	CCDS43766.1																																																																																				0.597	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			43	94	0	0	0	1	0	43	94				
USP5	8078	broad.mit.edu	37	12	6975200	6975200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6975200G>A	ENST00000229268.8	+	20	2588	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	TPI1_ENST00000229270.4_5'Flank|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'Flank|USP5_ENST00000389231.5_Missense_Mutation_p.D823N	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	846	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCCGCCCAAGGACCTGGGCTA	0.542																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(2536-2538)Gac>Aac		ubiquitin specific peptidase 5 (isopeptidase T)							98.0	92.0	94.0					12																	6975200		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6975200G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2536G>A	12.37:g.6975200G>A	ENSP00000229268:p.Asp846Asn					USP5_ENST00000389231.5_Missense_Mutation_p.D823N	p.D846N	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			20	2588	+			846					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.2536G>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397751	0.96009	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.74209	-0.82;-0.82	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	L	0.58969	1.84	0.80722	D	1	D;P	0.67145	0.996;0.799	D;B	0.70487	0.969;0.367	D	0.83499	0.0074	10	0.45353	T	0.12	-9.5936	18.2591	0.90028	0.0:0.0:1.0:0.0	.	846;823	P45974;P45974-2	UBP5_HUMAN;.	N	846;823	ENSP00000229268:D846N;ENSP00000373883:D823N	ENSP00000229268:D846N	D	+	1	0	USP5	6845461	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.539000	0.85634	0.561000	0.74099	GAC		0.542	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			14	94	0	0	0	1	0	14	94				
CHD3	1107	broad.mit.edu	37	17	7809901	7809901	+	Silent	SNP	G	G	T	rs568783199		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7809901G>T	ENST00000330494.7	+	29	4539	c.4389G>T	c.(4387-4389)ctG>ctT	p.L1463L	CHD3_ENST00000358181.4_Silent_p.L1463L|CHD3_ENST00000380358.4_Silent_p.L1522L|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1463					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCGCCATCTGTGTGAGCCTG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17459	0.0		0.001	False		,,,				2504	0.0					ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4564-4566)ctG>ctT		chromodomain helicase DNA binding protein 3							120.0	115.0	117.0					17																	7809901		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7809901G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4389G>T	17.37:g.7809901G>T						CHD3_ENST00000330494.7_Silent_p.L1463L|CHD3_ENST00000358181.4_Silent_p.L1463L	p.L1522L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			29	4567	+		Prostate(122;0.202)	1463					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4566G>T	CCDS32554.1																																																																																				0.607	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		43	111	1	0	8.20599e-20	1	8.98223e-20	43	111				
SCNN1D	6339	broad.mit.edu	37	1	1226642	1226642	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:1226642G>A	ENST00000338555.2	+	15	2713	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	SCNN1D_ENST00000400928.3_Silent_p.Q523Q|SCNN1D_ENST00000379116.5_Silent_p.Q687Q|SCNN1D_ENST00000325425.8_Silent_p.Q589Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	523					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	AGGTGCCGCAGCTGCTCTCGG	0.716																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1567-1569)caG>caA		sodium channel, non-voltage-gated 1, delta subunit							10.0	9.0	9.0					1																	1226642		2108	4151	6259	SO:0001819	synonymous_variant	6339							g.chr1:1226642G>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1569G>A	1.37:g.1226642G>A						SCNN1D_ENST00000379116.5_Silent_p.Q687Q|SCNN1D_ENST00000400928.3_Silent_p.Q523Q|SCNN1D_ENST00000325425.8_Silent_p.Q589Q	p.Q523Q						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	15	2713	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37	c.1569G>A																																																																																					0.716	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		8	7	0	0	0	1	0	8	7				
ZNF407	55628	broad.mit.edu	37	18	72345099	72345099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:72345099G>C	ENST00000299687.5	+	1	2124	c.2124G>C	c.(2122-2124)aaG>aaC	p.K708N	ZNF407_ENST00000582337.1_Missense_Mutation_p.K708N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K708N|ZNF407_ENST00000309902.6_Missense_Mutation_p.K708N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	708					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCAGTGTAAGAAGTGTTTTT	0.393																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2122-2124)aaG>aaC		zinc finger protein 407							46.0	45.0	45.0					18																	72345099		1856	4099	5955	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345099G>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2124G>C	18.37:g.72345099G>C	ENSP00000299687:p.Lys708Asn					ZNF407_ENST00000582337.1_Missense_Mutation_p.K708N|ZNF407_ENST00000309902.6_Missense_Mutation_p.K708N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K708N	p.K708N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2124	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	708					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2124G>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103069	0.56183	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11712	2.75;3.17	5.76	4.88	0.63580	Zinc finger, C2H2-like (1);	0.288101	0.20616	U	0.088875	T	0.19967	0.0480	L	0.41573	1.285	0.41969	D	0.990743	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.997	T	0.02588	-1.1137	10	0.25751	T	0.34	.	8.164	0.31215	0.2476:0.0:0.7524:0.0	.	708;708;708	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	708	ENSP00000299687:K708N;ENSP00000310359:K708N	ENSP00000299687:K708N	K	+	3	2	ZNF407	70474087	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.924000	0.48876	2.200000	0.70718	0.377000	0.23210	AAG		0.393	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		7	21	0	0	0	1	0	7	21				
CPEB3	22849	broad.mit.edu	37	10	93940750	93940750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:93940750G>A	ENST00000265997.4	-	4	1364	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	CPEB3_ENST00000412050.4_Missense_Mutation_p.P375S	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	398					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TCTGTTCCTGGATGATGGAAA	0.274																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1123-1125)Cca>Tca		cytoplasmic polyadenylation element binding protein 3							91.0	94.0	93.0					10																	93940750		2202	4300	6502	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93940750G>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1192C>T	10.37:g.93940750G>A	ENSP00000265997:p.Pro398Ser					CPEB3_ENST00000265997.4_Missense_Mutation_p.P398S	p.P375S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			4	1211	-		Colorectal(252;0.0869)	398					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1123C>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887680	0.52014	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.44482	0.92;0.95	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	N	0.08118	0	0.58432	D	0.999991	B;D;D	0.67145	0.397;0.993;0.996	B;D;D	0.75484	0.085;0.968;0.986	T	0.41016	-0.9532	10	0.15952	T	0.53	-3.6932	19.0663	0.93113	0.0:0.0:1.0:0.0	.	398;375;375	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	S	375;375;398	ENSP00000398310:P375S;ENSP00000265997:P398S	ENSP00000265997:P398S	P	-	1	0	CPEB3	93930730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.552000	0.73914	2.584000	0.87258	0.563000	0.77884	CCA		0.274	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	27	0	0	0	1	0	5	27				
DLGAP3	58512	broad.mit.edu	37	1	35370703	35370703	+	Silent	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:35370703A>G	ENST00000373347.1	-	3	550	c.282T>C	c.(280-282)ccT>ccC	p.P94P	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Silent_p.P94P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	94					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCCTGGCCAGGGTACATCC	0.687																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(280-282)ccT>ccC		discs, large (Drosophila) homolog-associated protein 3							15.0	16.0	16.0					1																	35370703		2196	4292	6488	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370703A>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.282T>C	1.37:g.35370703A>G						DLGAP3_ENST00000235180.4_Silent_p.P94P	p.P94P			O95886	DLGP3_HUMAN			3	550	-		Myeloproliferative disorder(586;0.0393)	94					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.282T>C	CCDS30670.1																																																																																				0.687	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		4	7	0	0	0	1	0	4	7				
RPA1	6117	broad.mit.edu	37	17	1747901	1747901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:1747901C>T	ENST00000254719.5	+	4	303	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	65					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GTTGAACCCTCTCGTGGAGGA	0.433								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(193-195)Ctc>Ttc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							147.0	128.0	135.0					17																	1747901		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747901C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.193C>T	17.37:g.1747901C>T	ENSP00000254719:p.Leu65Phe						p.L65F	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			4	303	+			65					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.193C>T	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171004	0.38315	.	.	ENSG00000132383	ENST00000254719	T	0.53206	0.63	5.98	5.98	0.97165	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.168070	0.51477	D	0.000083	T	0.63402	0.2508	M	0.66560	2.04	0.46954	D	0.999264	D	0.71674	0.998	D	0.70227	0.968	T	0.56056	-0.8042	10	0.15066	T	0.55	-7.4608	14.7033	0.69171	0.1456:0.8544:0.0:0.0	.	65	P27694	RFA1_HUMAN	F	65	ENSP00000254719:L65F	ENSP00000254719:L65F	L	+	1	0	RPA1	1694651	0.989000	0.36119	0.289000	0.24876	0.062000	0.15995	3.593000	0.54001	2.835000	0.97688	0.650000	0.86243	CTC		0.433	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		5	24	0	0	0	1	0	5	24				
DOPEY2	9980	broad.mit.edu	37	21	37632996	37632996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr21:37632996C>T	ENST00000399151.3	+	24	5366	c.5281C>T	c.(5281-5283)Cct>Tct	p.P1761S	snoU13_ENST00000459290.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1761					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTGGACATTCCTGTGTTGCA	0.393																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(5281-5283)Cct>Tct		dopey family member 2							194.0	182.0	186.0					21																	37632996		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37632996C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5281C>T	21.37:g.37632996C>T	ENSP00000382104:p.Pro1761Ser						p.P1761S	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			24	5366	+			1761					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.5281C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326245	0.41197	.	.	ENSG00000142197	ENST00000399151	T	0.64991	-0.13	5.38	4.49	0.54785	.	0.055409	0.64402	D	0.000001	T	0.63295	0.2499	L	0.41961	1.31	0.58432	D	0.999998	D;D	0.57571	0.98;0.967	P;P	0.55999	0.789;0.619	T	0.61207	-0.7109	10	0.02654	T	1	-11.2711	16.2638	0.82563	0.0:0.8675:0.1325:0.0	.	1761;1761	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	1761	ENSP00000382104:P1761S	ENSP00000382104:P1761S	P	+	1	0	DOPEY2	36554866	1.000000	0.71417	0.623000	0.29173	0.987000	0.75469	5.424000	0.66464	1.242000	0.43836	0.563000	0.77884	CCT		0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		5	59	0	0	0	1	0	5	59				
WISP2	8839	broad.mit.edu	37	20	43355740	43355740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:43355740C>A	ENST00000372868.2	+	5	888	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Missense_Mutation_p.L100M|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.S182Y			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	182					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCAGTTTTCTGGCCTTGTC	0.642																																						ENST00000372868.2																			0				skin(1)	1						c.(544-546)tCt>tAt		WNT1 inducible signaling pathway protein 2							83.0	73.0	77.0					20																	43355740		2202	4297	6499	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355740C>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.545C>A	20.37:g.43355740C>A	ENSP00000361959:p.Ser182Tyr					RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.L100M|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Missense_Mutation_p.S182Y|RP11-445H22.4_ENST00000427303.1_RNA	p.S182Y			O76076	WISP2_HUMAN			5	888	+		Myeloproliferative disorder(115;0.0122)	182					B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.545C>A	CCDS13336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.330|0.330	-0.956776|-0.956776	0.02267|0.02267	.|.	.|.	ENSG00000064205|ENSG00000064205	ENST00000372865|ENST00000372868;ENST00000190983	T|T;T	0.67345|0.76578	-0.26|-1.03;-1.03	4.01|4.01	1.73|1.73	0.24493|0.24493	.|.	.|1.613480	.|0.03376	.|N	.|0.199635	T|T	0.65354|0.65354	0.2683|0.2683	L|L	0.34521|0.34521	1.04|1.04	0.32265|0.32265	N|N	0.569639|0.569639	D|P	0.52996|0.38863	0.957|0.65	P|B	0.44696|0.33339	0.458|0.162	T|T	0.61217|0.61217	-0.7107|-0.7107	9|10	0.62326|0.23302	D|T	0.03|0.38	-19.9084|-19.9084	6.6881|6.6881	0.23156|0.23156	0.1723:0.7246:0.0:0.1031|0.1723:0.7246:0.0:0.1031	.|.	100|182	Q6PEG3|O76076	.|WISP2_HUMAN	M|Y	100|182	ENSP00000361956:L100M|ENSP00000361959:S182Y;ENSP00000190983:S182Y	ENSP00000361956:L100M|ENSP00000190983:S182Y	L|S	+|+	1|2	2|0	WISP2|WISP2	42789154|42789154	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.335000|0.335000	0.28730|0.28730	0.438000|0.438000	0.21559|0.21559	0.775000|0.775000	0.33450|0.33450	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.642	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		45	92	1	0	6.21074e-16	1	6.72554e-16	45	92				
PUM1	9698	broad.mit.edu	37	1	31426564	31426564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:31426564G>A	ENST00000257075.5	-	15	2681	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	PUM1_ENST00000373747.3_Missense_Mutation_p.S864F|PUM1_ENST00000423018.2_Missense_Mutation_p.S719F|PUM1_ENST00000424085.2_Missense_Mutation_p.S621F|PUM1_ENST00000373741.4_Missense_Mutation_p.S899F|PUM1_ENST00000373742.2_Missense_Mutation_p.S804F|PUM1_ENST00000426105.2_Missense_Mutation_p.S863F|PUM1_ENST00000440538.2_Missense_Mutation_p.S837F	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	863	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TACTCACCTGGACCCATGCTG	0.428																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2590-2592)tCc>tTc		pumilio RNA-binding family member 1							110.0	120.0	117.0					1																	31426564		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31426564G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2588C>T	1.37:g.31426564G>A	ENSP00000257075:p.Ser863Phe					PUM1_ENST00000257075.5_Missense_Mutation_p.S863F|PUM1_ENST00000426105.2_Missense_Mutation_p.S863F|PUM1_ENST00000440538.2_Missense_Mutation_p.S837F|PUM1_ENST00000424085.2_Missense_Mutation_p.S621F|PUM1_ENST00000423018.2_Missense_Mutation_p.S719F|PUM1_ENST00000373741.4_Missense_Mutation_p.S899F|PUM1_ENST00000373742.2_Missense_Mutation_p.S804F	p.S864F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	15	2690	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	863			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2591C>T	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.406502|4.406502	0.83230|0.83230	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525997|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846	.|T;T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.093752	.|0.85682	.|D	.|0.000000	T|T	0.74627|0.74627	0.3741|0.3741	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D|D	0.85163|0.85163	0.0993|0.0993	5|10	.|0.87932	.|D	.|0	.|.	19.5973|19.5973	0.95546|0.95546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|804;719;899;837;863;863;864;863	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	S|F	10|621;863;864;601;863;837;899;719;804;14	.|ENSP00000400141:S621F;ENSP00000257075:S863F;ENSP00000362852:S864F;ENSP00000391723:S863F;ENSP00000401777:S837F;ENSP00000362846:S899F;ENSP00000399440:S719F;ENSP00000362847:S804F;ENSP00000431213:S14F	.|ENSP00000257075:S863F	P|S	-|-	1|2	0|0	PUM1|PUM1	31199151|31199151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.515000|7.515000	0.81761|0.81761	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.428	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			18	140	0	0	0	1	0	18	140				
NEK1	4750	broad.mit.edu	37	4	170428925	170428925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:170428925C>T	ENST00000439128.2	-	20	2408	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	NEK1_ENST00000507142.1_Missense_Mutation_p.E618K|NEK1_ENST00000510533.1_Missense_Mutation_p.E546K|NEK1_ENST00000511633.1_Missense_Mutation_p.E574K|NEK1_ENST00000512193.1_Missense_Mutation_p.E521K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	590					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTGTCCTTCAGAATGATTA	0.348																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1768-1770)Gaa>Aaa		NIMA-related kinase 1							96.0	88.0	90.0					4																	170428925		1840	4086	5926	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428925C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1768G>A	4.37:g.170428925C>T	ENSP00000408020:p.Glu590Lys					NEK1_ENST00000511633.1_Missense_Mutation_p.E574K|NEK1_ENST00000512193.1_Missense_Mutation_p.E521K|NEK1_ENST00000507142.1_Missense_Mutation_p.E618K|NEK1_ENST00000510533.1_Missense_Mutation_p.E546K	p.E590K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	20	2408	-		Prostate(90;0.00601)|Renal(120;0.0183)	590					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1768G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	8.833	0.940454	0.18281	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.68025	-0.29;-0.29;-0.3;-0.3;-0.27	5.29	0.758	0.18432	.	0.856343	0.10198	N	0.703689	T	0.49881	0.1583	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.001	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.31668	-0.9935	10	0.27785	T	0.31	.	10.3368	0.43854	0.0:0.6885:0.0:0.3115	.	521;574;618;546;590	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	K	590;574;546;618;521	ENSP00000408020:E590K;ENSP00000423332:E574K;ENSP00000427653:E546K;ENSP00000424757:E618K;ENSP00000424938:E521K	ENSP00000408020:E590K	E	-	1	0	NEK1	170665500	0.032000	0.19561	0.169000	0.22859	0.816000	0.46133	0.259000	0.18405	0.112000	0.17975	0.655000	0.94253	GAA		0.348	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			16	23	0	0	0	1	0	16	23				
KIF4B	285643	broad.mit.edu	37	5	154396309	154396309	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396309C>A	ENST00000435029.4	+	1	3050	c.2890C>A	c.(2890-2892)Cag>Aag	p.Q964K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	964	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCACACTGCAGTGTCAGGA	0.468																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2890-2892)Cag>Aag		kinesin family member 4B							125.0	120.0	122.0					5																	154396309		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396309C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2890C>A	5.37:g.154396309C>A	ENSP00000387875:p.Gln964Lys						p.Q964K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3050	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	964			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2890C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.636458	0.00114	.	.	ENSG00000226650	ENST00000435029	T	0.64618	-0.11	1.76	-1.39	0.08997	.	.	.	.	.	T	0.27169	0.0666	N	0.02721	-0.515	0.22050	N	0.999398	B	0.02656	0.0	B	0.04013	0.001	T	0.28870	-1.0030	9	0.02654	T	1	.	6.1148	0.20120	0.4342:0.5658:0.0:0.0	.	964	Q2VIQ3	KIF4B_HUMAN	K	964	ENSP00000387875:Q964K	ENSP00000387875:Q964K	Q	+	1	0	KIF4B	154376502	0.370000	0.25047	0.952000	0.39060	0.416000	0.31233	-0.128000	0.10531	-0.285000	0.09089	-0.402000	0.06365	CAG		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			6	91	1	0	0.00621372	1	0.0062757	6	91				
KCNH5	27133	broad.mit.edu	37	14	63269276	63269276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:63269276G>T	ENST00000322893.7	-	9	1861	c.1593C>A	c.(1591-1593)gaC>gaA	p.D531E	KCNH5_ENST00000420622.2_Missense_Mutation_p.D531E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D473E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	531					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAGCTCTCATGTCCTTGGGAC	0.458																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1591-1593)gaC>gaA		potassium voltage-gated channel, subfamily H (eag-related), member 5							42.0	44.0	44.0					14																	63269276		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269276G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1593C>A	14.37:g.63269276G>T	ENSP00000321427:p.Asp531Glu					KCNH5_ENST00000420622.2_Missense_Mutation_p.D531E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D473E	p.D531E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1861	-			531					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1593C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016583	0.54468	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96554	-4.05;-4.05;-4.05	5.35	4.46	0.54185	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	L	0.39020	1.185	0.80722	D	1	B;P;D	0.76494	0.173;0.571;0.999	B;B;D	0.68765	0.187;0.266;0.96	D	0.92843	0.6290	10	0.13108	T	0.6	.	10.3312	0.43823	0.1498:0.0:0.8502:0.0	.	473;531;531	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	E	531;531;473	ENSP00000321427:D531E;ENSP00000395439:D531E;ENSP00000378419:D473E	ENSP00000321427:D531E	D	-	3	2	KCNH5	62339029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.227000	0.58612	1.409000	0.46915	0.563000	0.77884	GAC		0.458	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		41	34	1	0	4.32679e-17	1	4.69799e-17	41	34				
ACBD4	79777	broad.mit.edu	37	17	43220990	43220990	+	IGR	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:43220990G>A	ENST00000376955.4	+	0	1453				ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000591859.1_Silent_p.L336L|ACBD4_ENST00000431281.1_Silent_p.L336L|ACBD4_ENST00000321854.8_3'UTR|ACBD4_ENST00000586346.1_Silent_p.L336L|ACBD4_ENST00000398322.3_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCTGTGCCCTGAGCCTTCCTA	0.542																																						ENST00000431281.1																			0				kidney(1)|lung(3)|ovary(1)	5						c.(1006-1008)ctG>ctA		acyl-CoA binding domain containing 4							35.0	40.0	38.0					17																	43220990		1131	2175	3306	SO:0001628	intergenic_variant	79777						fatty-acyl-CoA binding	g.chr17:43220990G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111		17.37:g.43220990G>A						ACBD4_ENST00000398322.3_3'UTR|ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000591859.1_Silent_p.L336L|ACBD4_ENST00000586346.1_Silent_p.L336L|ACBD4_ENST00000321854.8_3'UTR	p.L336L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN			12	1477	+			0					D3DX64|Q8IUT1|Q9H8Q4	Silent	SNP	ENST00000376955.4	37	c.1008G>A	CCDS45711.1																																																																																				0.542	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		17	55	0	0	0	1	0	17	55				
ECEL1	9427	broad.mit.edu	37	2	233344944	233344944	+	Silent	SNP	G	G	C	rs371645572		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:233344944G>C	ENST00000304546.1	-	18	2457	c.2247C>G	c.(2245-2247)tcC>tcG	p.S749S	ECEL1_ENST00000409941.1_Silent_p.S747S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	749					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCAAACTGGGACACACTGC	0.622																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2245-2247)tcC>tcG		endothelin converting enzyme-like 1				2,4404	4.2+/-10.8	0,2,2201	84.0	69.0	74.0		2247	1.4	1.0	2		74	0,8600		0,0,4300	no	coding-synonymous	ECEL1	NM_004826.2		0,2,6501	CC,CG,GG		0.0,0.0454,0.0154		749/776	233344944	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233344944G>C	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2247C>G	2.37:g.233344944G>C						ECEL1_ENST00000409941.1_Silent_p.S747S	p.S749S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	18	2457	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	749					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.2247C>G	CCDS2493.1																																																																																				0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		8	47	0	0	0	1	0	8	47				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	54	0	0	0	1	0	4	54				
TSC2	7249	broad.mit.edu	37	16	2127659	2127659	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2127659C>T	ENST00000219476.3	+	26	3528	c.2898C>T	c.(2896-2898)ttC>ttT	p.F966F	TSC2_ENST00000401874.2_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Silent_p.F966F|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	966					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGAAAGAATTCAAGGAGAGCT	0.612			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2896-2898)ttC>ttT		tuberous sclerosis 2							73.0	74.0	73.0					16																	2127659		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2127659C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2898C>T	16.37:g.2127659C>T						TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Silent_p.F966F	p.F966F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			26	3528	+		Hepatocellular(780;0.0202)	966					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.2898C>T	CCDS10458.1																																																																																				0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		53	154	0	0	0	1	0	53	154				
AXL	558	broad.mit.edu	37	19	41743859	41743859	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41743859C>G	ENST00000301178.4	+	7	984	c.794C>G	c.(793-795)tCa>tGa	p.S265*	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.S265*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	265	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGCTGTCAAACGATGGG	0.627																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(793-795)tCa>tGa		AXL receptor tyrosine kinase							73.0	66.0	69.0					19																	41743859		2203	4300	6503	SO:0001587	stop_gained	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743859C>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.794C>G	19.37:g.41743859C>G	ENSP00000301178:p.Ser265*					AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.S265*	p.S265*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			7	984	+			265			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Nonsense_Mutation	SNP	ENST00000301178.4	37	c.794C>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.351486	0.82132	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	.	.	.	4.11	4.11	0.48088	.	1.068160	0.07316	U	0.876664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-1.6687	13.6896	0.62537	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000301178:S265X	S	+	2	0	AXL	46435699	0.999000	0.42202	0.905000	0.35620	0.008000	0.06430	2.799000	0.47892	2.261000	0.74972	0.448000	0.29417	TCA		0.627	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			18	56	0	0	0	1	0	18	56				
SERPINB12	89777	broad.mit.edu	37	18	61225714	61225714	+	Intron	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:61225714C>T	ENST00000269491.1	+	2	243				SERPINB12_ENST00000382768.1_Nonsense_Mutation_p.Q100*	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12						hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GCCTCTGGATCAGCAGGTGAA	0.443																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(298-300)Cag>Tag		serpin peptidase inhibitor, clade B (ovalbumin), member 12							36.0	32.0	33.0					18																	61225714		692	1591	2283	SO:0001627	intron_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61225714C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.243+55C>T	18.37:g.61225714C>T						SERPINB12_ENST00000269491.1_Intron	p.Q100*			Q96P63	SPB12_HUMAN			2	298	+			81					Q3SYB4	Nonsense_Mutation	SNP	ENST00000269491.1	37	c.298C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961567	0.53400	.	.	ENSG00000166634	ENST00000382768	.	.	.	4.57	0.43	0.16515	.	3.748070	0.00866	N	0.001969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8999	0.13769	0.0:0.4664:0.336:0.1976	.	.	.	.	X	100	.	.	Q	+	1	0	SERPINB12	59376694	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.286000	0.08399	0.132000	0.18615	0.563000	0.77884	CAG		0.443	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		6	17	0	0	0	1	0	6	17				
ATP10A	57194	broad.mit.edu	37	15	25924962	25924962	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:25924962C>T	ENST00000356865.6	-	21	4137	c.4026G>A	c.(4024-4026)agG>agA	p.R1342R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1342					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTGACTGTCCTCCCTGATG	0.622																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4024-4026)agG>agA		ATPase, class V, type 10A							73.0	70.0	71.0					15																	25924962		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924962C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4026G>A	15.37:g.25924962C>T							p.R1342R	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4137	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1342					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4026G>A	CCDS32178.1																																																																																				0.622	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		30	68	0	0	0	1	0	30	68				
PLEC	5339	broad.mit.edu	37	8	145001638	145001638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:145001638C>G	ENST00000322810.4	-	27	4276	c.4107G>C	c.(4105-4107)caG>caC	p.Q1369H	PLEC_ENST00000345136.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1255H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1218H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1236H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1210H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1200H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1259H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1369	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCCTGGATCTGCTCCTGCC	0.731																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4105-4107)caG>caC		plectin							10.0	11.0	11.0					8																	145001638		1993	4093	6086	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001638C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4107G>C	8.37:g.145001638C>G	ENSP00000323856:p.Gln1369His					PLEC_ENST00000527096.1_Missense_Mutation_p.Q1255H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1218H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1210H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1259H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1200H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1236H	p.Q1369H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4276	-			1369			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4107G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789812	0.16258	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.1	4.2	0.49525	.	0.651897	0.13127	U	0.411767	T	0.27349	0.0671	N	0.22421	0.69	0.29314	N	0.867819	B;B;B;B;B;B;B;B	0.33512	0.164;0.415;0.164;0.102;0.164;0.164;0.164;0.164	B;B;B;B;B;B;B;B	0.30401	0.115;0.115;0.115;0.054;0.115;0.115;0.115;0.115	T	0.13072	-1.0523	10	0.49607	T	0.09	.	14.3902	0.66973	0.0:0.6505:0.3495:0.0	.	1259;1218;1210;1369;1200;1232;1236;1232	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	1232;1236;1232;1200;1369;1210;1218;1259;1255	ENSP00000344848:Q1232H;ENSP00000350277:Q1236H;ENSP00000346602:Q1232H;ENSP00000381756:Q1200H;ENSP00000323856:Q1369H;ENSP00000347044:Q1210H;ENSP00000348702:Q1218H;ENSP00000388180:Q1259H;ENSP00000434583:Q1255H	ENSP00000323856:Q1369H	Q	-	3	2	PLEC	145073626	0.016000	0.18221	1.000000	0.80357	0.535000	0.34838	0.091000	0.15046	1.070000	0.40811	0.501000	0.49751	CAG		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	35	0	0	0	1	0	7	35				
CPA3	1359	broad.mit.edu	37	3	148596283	148596283	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:148596283G>A	ENST00000296046.3	+	4	377	c.325G>A	c.(325-327)Gat>Aat	p.D109N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	109					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGTTAAAGAAGATATCCCAGG	0.318																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(325-327)Gat>Aat		carboxypeptidase A3 (mast cell)							80.0	81.0	81.0					3																	148596283		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596283G>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.325G>A	3.37:g.148596283G>A	ENSP00000296046:p.Asp109Asn					RP11-680B3.2_ENST00000488190.1_RNA	p.D109N	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		4	377	+			109					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.325G>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825463	0.16749	.	.	ENSG00000163751	ENST00000296046	T	0.10477	2.87	5.19	4.32	0.51571	.	0.722229	0.14237	N	0.332350	T	0.04815	0.0130	N	0.03608	-0.345	0.25581	N	0.986795	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	10	0.19590	T	0.45	.	9.7579	0.40515	0.1652:0.0:0.8348:0.0	.	109	P15088	CBPA3_HUMAN	N	109	ENSP00000296046:D109N	ENSP00000296046:D109N	D	+	1	0	CPA3	150078973	0.990000	0.36364	0.967000	0.41034	0.601000	0.36947	1.975000	0.40569	1.558000	0.49541	0.650000	0.86243	GAT		0.318	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		53	206	0	0	0	1	0	53	206				
LINC00969	440993	broad.mit.edu	37	3	195384986	195384986	+	lincRNA	SNP	C	C	T	rs550683413	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:195384986C>T	ENST00000445430.1	+	0	39				AC069513.4_ENST00000423600.1_lincRNA					long intergenic non-protein coding RNA 969																		GGTCCGGGGCCTGTCGCGGTT	0.781													.|||	251	0.0501198	0.0061	0.0749	5008	,	,		11454	0.0		0.1392	False		,,,				2504	0.0521					ENST00000445430.1																			0																																																			440993							g.chr3:195384986C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195384986C>T														0	39	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.781	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	0	0	0	0	1	0	2	0				
ZNF737	100129842	broad.mit.edu	37	19	20728688	20728688	+	Silent	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20728688T>C	ENST00000427401.4	-	4	415	c.321A>G	c.(319-321)ggA>ggG	p.G107G		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTGTCATGTCCATAGTTTT	0.368																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(319-321)ggA>ggG		zinc finger protein 737							136.0	104.0	114.0					19																	20728688		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728688T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.321A>G	19.37:g.20728688T>C							p.G107G	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	415	-			107					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.321A>G	CCDS54238.1																																																																																				0.368	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		32	44	0	0	0	1	0	32	44				
NALCN	259232	broad.mit.edu	37	13	101944608	101944608	+	Silent	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944608G>T	ENST00000251127.6	-	8	990	c.909C>A	c.(907-909)atC>atA	p.I303I	NALCN_ENST00000376196.3_Silent_p.I303I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	303					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATGAGAGTGATGAAATAGA	0.453																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(907-909)atC>atA		sodium leak channel, non-selective							82.0	66.0	71.0					13																	101944608		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944608G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.909C>A	13.37:g.101944608G>T						NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.I303I	p.I303I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	990	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		303					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.909C>A	CCDS9498.1																																																																																				0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		19	26	1	0	0.00121646	1	0.00124726	19	26				
NPHP4	261734	broad.mit.edu	37	1	5993284	5993284	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:5993284G>A	ENST00000378156.4	-	10	1490	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	409					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L409L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCAGAGGCAGGGTC	0.542																																						ENST00000378156.4																			1	Substitution - coding silent(1)	p.L409L(1)	lung(1)	NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1225-1227)Ctg>Ttg		nephronophthisis 4							58.0	63.0	62.0					1																	5993284		1986	4145	6131	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5993284G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1225C>T	1.37:g.5993284G>A						NPHP4_ENST00000478423.2_5'UTR	p.L409L	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	10	1490	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	409					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1225C>T	CCDS44052.1																																																																																				0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			20	42	0	0	0	1	0	20	42				
SH3PXD2A	9644	broad.mit.edu	37	10	105363418	105363418	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:105363418C>T	ENST00000369774.4	-	15	1833	c.1557G>A	c.(1555-1557)cgG>cgA	p.R519R	SH3PXD2A_ENST00000355946.2_Silent_p.R491R|SH3PXD2A_ENST00000540321.1_Silent_p.R386R|SH3PXD2A_ENST00000538130.1_Silent_p.R354R|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	519					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCACCTTGGGCCGGGTCAGCG	0.677																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1555-1557)cgG>cgA		SH3 and PX domains 2A							42.0	44.0	43.0					10																	105363418		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363418C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1557G>A	10.37:g.105363418C>T						SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.R386R|SH3PXD2A_ENST00000355946.2_Silent_p.R491R|SH3PXD2A_ENST00000538130.1_Silent_p.R354R	p.R519R			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1833	-		Colorectal(252;0.0815)|Breast(234;0.131)	519					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1557G>A		.	.	.	.	.	.	.	.	.	.	C	5.076	0.199732	0.09652	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.47	3.62	0.41486	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47407	-0.9120	4	.	.	.	-30.7647	5.228	0.15406	0.0:0.5459:0.1507:0.3033	.	.	.	.	T	446	.	.	A	-	1	0	SH3PXD2A	105353408	0.995000	0.38212	1.000000	0.80357	0.886000	0.51366	0.379000	0.20585	0.681000	0.31386	-0.258000	0.10820	GCC		0.677	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		4	56	0	0	0	1	0	4	56				
CECR2	27443	broad.mit.edu	37	22	18016846	18016846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:18016846G>A	ENST00000400585.2	+	10	1112	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CECR2_ENST00000342247.5_Missense_Mutation_p.G338E|CECR2_ENST00000400573.5_Missense_Mutation_p.G366E|CECR2_ENST00000262608.8_Missense_Mutation_p.G367E			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	408					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGCTCAAGGAAAGGAGCTC	0.483																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1099-1101)gGa>gAa		cat eye syndrome chromosome region, candidate 2							91.0	97.0	95.0					22																	18016846		1946	4138	6084	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18016846G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.674G>A	22.37:g.18016846G>A	ENSP00000383428:p.Gly225Glu					CECR2_ENST00000400585.2_Missense_Mutation_p.G225E|CECR2_ENST00000400573.4_Missense_Mutation_p.G366E|CECR2_ENST00000342247.5_Missense_Mutation_p.G338E	p.G367E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	9	1100	+		all_epithelial(15;0.139)	408					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1100G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.103116	0.94245	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.28255	2.07;1.73;1.74;1.62	5.33	5.33	0.75918	.	0.000000	0.53938	D	0.000046	T	0.55657	0.1934	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55811	-0.8082	10	0.72032	D	0.01	-24.8793	19.2129	0.93765	0.0:0.0:1.0:0.0	.	408;225;366	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	E	338;225;366;367	ENSP00000341219:G338E;ENSP00000383428:G225E;ENSP00000383417:G366E;ENSP00000262608:G367E	ENSP00000262608:G367E	G	+	2	0	CECR2	16396846	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.098000	0.94202	2.778000	0.95560	0.591000	0.81541	GGA		0.483	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		28	70	0	0	0	1	0	28	70				
SLC38A9	153129	broad.mit.edu	37	5	54960600	54960600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:54960600C>G	ENST00000396865.2	-	8	1209	c.618G>C	c.(616-618)ttG>ttC	p.L206F	SLC38A9_ENST00000515629.1_Missense_Mutation_p.L143F|SLC38A9_ENST00000539768.1_Missense_Mutation_p.L206F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.L206F|SLC38A9_ENST00000416547.2_Missense_Mutation_p.L82F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.L179F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	206					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGAGAGACACCAAGGAGAAAA	0.373																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(616-618)ttG>ttC		solute carrier family 38, member 9							52.0	51.0	51.0					5																	54960600		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54960600C>G		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.618G>C	5.37:g.54960600C>G	ENSP00000380074:p.Leu206Phe					SLC38A9_ENST00000396865.2_Missense_Mutation_p.L206F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.L206F|SLC38A9_ENST00000515629.1_Missense_Mutation_p.L143F|SLC38A9_ENST00000416547.2_Missense_Mutation_p.L82F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.L179F	p.L206F			Q8NBW4	S38A9_HUMAN			6	617	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	206					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.618G>C	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217061	0.95104	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208	T;T;T;T;T;T;T;T	0.02656	4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21	5.6	5.6	0.85130	.	0.196807	0.45867	D	0.000331	T	0.11965	0.0291	M	0.69823	2.125	0.80722	D	1	P;D	0.59767	0.889;0.986	P;P	0.62813	0.643;0.907	T	0.35126	-0.9801	10	0.08381	T	0.77	-8.9535	19.618	0.95643	0.0:1.0:0.0:0.0	.	179;206	B3KXV1;Q8NBW4	.;S38A9_HUMAN	F	206;206;206;143;82;179;206;143	ENSP00000380074:L206F;ENSP00000316596:L206F;ENSP00000437771:L206F;ENSP00000420934:L143F;ENSP00000397429:L82F;ENSP00000427335:L179F;ENSP00000423219:L206F;ENSP00000426413:L143F	ENSP00000316596:L206F	L	-	3	2	SLC38A9	54996357	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.950000	0.63603	2.635000	0.89317	0.650000	0.86243	TTG		0.373	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		7	51	0	0	0	1	0	7	51				
LAPTM4A	9741	broad.mit.edu	37	2	20237149	20237149	+	Silent	SNP	G	G	A	rs367786313		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:20237149G>A	ENST00000175091.4	-	4	867	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	120					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGAGGACGAAGTCAAAAA	0.358																																					Ovarian(90;1240 1386 7711 14384 46863)	ENST00000175091.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(358-360)ttC>ttT		lysosomal protein transmembrane 4 alpha		G		0,4406		0,0,2203	75.0	75.0	75.0		360	-5.8	0.6	2		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAPTM4A	NM_014713.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		120/234	20237149	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20237149G>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.360C>T	2.37:g.20237149G>A							p.F120F	NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN			4	867	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		120					Q6UW22	Silent	SNP	ENST00000175091.4	37	c.360C>T	CCDS1696.1																																																																																				0.358	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		18	47	0	0	0	1	0	18	47				
ITGAV	3685	broad.mit.edu	37	2	187516767	187516767	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:187516767C>G	ENST00000261023.3	+	15	1730	c.1456C>G	c.(1456-1458)Caa>Gaa	p.Q486E	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q450E|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q440E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	486					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CATTTTAAATCAAGACAATAA	0.373																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1456-1458)Caa>Gaa		integrin, alpha V							63.0	65.0	64.0					2																	187516767		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187516767C>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1456C>G	2.37:g.187516767C>G	ENSP00000261023:p.Gln486Glu					ITGAV_ENST00000433736.2_Missense_Mutation_p.Q440E|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q450E	p.Q486E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	15	1730	+			486					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1456C>G	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991680	0.54041	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44083	0.93;0.93;0.93	5.32	5.32	0.75619	Integrin alpha-2 (1);	0.173669	0.50627	D	0.000105	T	0.43122	0.1233	L	0.34521	1.04	0.46823	D	0.99921	B;B;B	0.31730	0.336;0.337;0.336	B;B;B	0.39531	0.302;0.253;0.302	T	0.41395	-0.9511	10	0.62326	D	0.03	.	19.3801	0.94529	0.0:1.0:0.0:0.0	.	440;450;486	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	E	486;450;440	ENSP00000261023:Q486E;ENSP00000364042:Q450E;ENSP00000404291:Q440E	ENSP00000261023:Q486E	Q	+	1	0	ITGAV	187225012	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.460000	0.73518	2.634000	0.89283	0.655000	0.94253	CAA		0.373	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	27	0	0	0	1	0	8	27				
TRPA1	8989	broad.mit.edu	37	8	72981280	72981280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:72981280C>T	ENST00000262209.4	-	3	629	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	141					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTATTCATGCCCTGCACAGC	0.517																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(421-423)gGc>gAc		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						221.0	234.0	230.0					8																	72981280		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981280C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.422G>A	8.37:g.72981280C>T	ENSP00000262209:p.Gly141Asp						p.G141D	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	629	-			141					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.422G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167764	0.21621	.	.	ENSG00000104321	ENST00000262209	T	0.64260	-0.09	5.74	0.456	0.16655	Ankyrin repeat-containing domain (4);	1.221640	0.05153	N	0.496349	T	0.50616	0.1626	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21552	-1.0242	10	0.23891	T	0.37	-0.0094	5.0455	0.14480	0.1017:0.2567:0.4937:0.148	.	141	O75762	TRPA1_HUMAN	D	141	ENSP00000262209:G141D	ENSP00000262209:G141D	G	-	2	0	TRPA1	73143834	0.000000	0.05858	0.044000	0.18714	0.011000	0.07611	-0.402000	0.07223	0.055000	0.16094	-0.211000	0.12701	GGC		0.517	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	421	0	0	0	1	0	5	421				
KCNV1	27012	broad.mit.edu	37	8	110980398	110980398	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:110980398C>A	ENST00000524391.1	-	4	2454	c.1422G>T	c.(1420-1422)cgG>cgT	p.R474R	KCNV1_ENST00000297404.1_Silent_p.R474R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	474					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATGATACTCCGGGCATAGA	0.423																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1420-1422)cgG>cgT		potassium channel, subfamily V, member 1							86.0	80.0	82.0					8																	110980398		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980398C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1422G>T	8.37:g.110980398C>A						KCNV1_ENST00000297404.1_Silent_p.R474R	p.R474R			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2454	-	all_neural(195;0.219)		474					Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.1422G>T	CCDS6314.1																																																																																				0.423	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		42	28	1	0	8.16277e-20	1	8.95914e-20	42	28				
MUC5B	727897	broad.mit.edu	37	11	1262589	1262589	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:1262589C>T	ENST00000529681.1	+	31	4537	c.4479C>T	c.(4477-4479)gtC>gtT	p.V1493V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.V1496V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1493	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGACGGTCACCCCCTCGG	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4486-4488)gtC>gtT		mucin 5B, oligomeric mucus/gel-forming							46.0	57.0	53.0					11																	1262589		2086	4194	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262589C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4479C>T	11.37:g.1262589C>T						MUC5B_ENST00000529681.1_Silent_p.V1493V	p.V1496V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4546	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1493			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.4488C>T	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	16	0	0	0	1	0	6	16				
DNAJA1	3301	broad.mit.edu	37	9	33038869	33038869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:33038869C>T	ENST00000330899.4	+	9	1345	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	DNAJA1_ENST00000544625.1_Missense_Mutation_p.P231S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	388					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGAACATCATCCCAGAGGTGG	0.458																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(1162-1164)Ccc>Tcc		DnaJ (Hsp40) homolog, subfamily A, member 1							72.0	65.0	68.0					9																	33038869		2203	4300	6503	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33038869C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.1162C>T	9.37:g.33038869C>T	ENSP00000369127:p.Pro388Ser					DNAJA1_ENST00000544625.1_Missense_Mutation_p.P231S	p.P388S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	9	1345	+			388					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.1162C>T	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554366	0.27739	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.59638	0.25;1.58	4.87	4.87	0.63330	.	0.229124	0.45126	D	0.000399	T	0.39860	0.1094	N	0.20610	0.595	0.54753	D	0.999985	B	0.32731	0.382	B	0.25884	0.064	T	0.28459	-1.0043	10	0.20519	T	0.43	-8.0447	15.8625	0.79035	0.0:1.0:0.0:0.0	.	388	P31689	DNJA1_HUMAN	S	388;231;231	ENSP00000369127:P388S;ENSP00000439010:P231S	ENSP00000369127:P388S	P	+	1	0	DNAJA1	33028869	0.955000	0.32602	1.000000	0.80357	0.805000	0.45488	3.095000	0.50235	2.422000	0.82143	0.557000	0.71058	CCC		0.458	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			3	27	0	0	0	1	0	3	27				
ATP8B2	57198	broad.mit.edu	37	1	154313342	154313342	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:154313342C>T	ENST00000368489.3	+	13	1146	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ATP8B2_ENST00000341822.2_Silent_p.I368I|ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	368					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGAGGTCATCCGTCTGGGCC	0.607																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1144-1146)atC>atT		ATPase, aminophospholipid transporter, class I, type 8B, member 2							83.0	81.0	82.0					1																	154313342		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154313342C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1146C>T	1.37:g.154313342C>T						ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.I368I	p.I382I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		13	1146	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		368					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.1146C>T	CCDS1066.1																																																																																				0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		27	122	0	0	0	1	0	27	122				
AMD1	262	broad.mit.edu	37	6	111210139	111210139	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210139C>A	ENST00000368885.3	+	3	613	c.277C>A	c.(277-279)Ccc>Acc	p.P93T	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.P24T|AMD1_ENST00000368877.5_Missense_Mutation_p.P64T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	93					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AGCACTGGTTCCCCTGTTGAA	0.393																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(277-279)Ccc>Acc		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						98.0	90.0	92.0					6																	111210139		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210139C>A	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.277C>A	6.37:g.111210139C>A	ENSP00000357880:p.Pro93Thr					AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.P64T|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.P24T	p.P93T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	613	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	93					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.277C>A	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804505	0.50315	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.61387	1.9	0.80722	D	1	B;B	0.28512	0.214;0.137	B;B	0.24848	0.036;0.056	T	0.49153	-0.8969	9	0.18710	T	0.47	.	19.5083	0.95130	0.0:1.0:0.0:0.0	.	64;93	A6NNH3;P17707	.;DCAM_HUMAN	T	93;64;24	.	ENSP00000357870:P24T	P	+	1	0	AMD1	111316832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.611000	0.88343	0.591000	0.81541	CCC		0.393	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			46	48	1	0	2.84425e-11	1	3.03937e-11	46	48				
SRRM2	23524	broad.mit.edu	37	16	2817149	2817149	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2817149G>C	ENST00000301740.8	+	11	7169	c.6620G>C	c.(6619-6621)aGa>aCa	p.R2207T	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2207	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTTGCTGCAAGAATGTCCCAG	0.597																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6619-6621)aGa>aCa		serine/arginine repetitive matrix 2							63.0	70.0	68.0					16																	2817149		2198	4299	6497	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817149G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6620G>C	16.37:g.2817149G>C	ENSP00000301740:p.Arg2207Thr						p.R2207T	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7169	+			2207			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6620G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107354	0.37145	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79749	-1.3	5.56	5.56	0.83823	.	0.080339	0.53938	D	0.000047	D	0.83050	0.5170	L	0.29908	0.895	0.33048	D	0.532334	D	0.54601	0.967	D	0.63597	0.916	D	0.86881	0.2042	10	0.62326	D	0.03	-11.0622	15.0149	0.71576	0.0:0.0:1.0:0.0	.	2207	Q9UQ35	SRRM2_HUMAN	T	2207;1459	ENSP00000301740:R2207T	ENSP00000301740:R2207T	R	+	2	0	SRRM2	2757150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.393000	0.52544	2.631000	0.89168	0.591000	0.81541	AGA		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			25	63	0	0	0	1	0	25	63				
MYH13	8735	broad.mit.edu	37	17	10204996	10204996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:10204996A>G	ENST00000418404.3	-	39	5855	c.5692T>C	c.(5692-5694)Tcc>Ccc	p.S1898P	MYH13_ENST00000252172.4_Missense_Mutation_p.S1898P|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1898					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGGCATCTGGACAGCTGCGTG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5692-5694)Tcc>Ccc		myosin, heavy chain 13, skeletal muscle							47.0	51.0	49.0					17																	10204996		2202	4298	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10204996A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5692T>C	17.37:g.10204996A>G	ENSP00000404570:p.Ser1898Pro					MYH13_ENST00000252172.4_Missense_Mutation_p.S1898P|MYH13_ENST00000570743.1_Missense_Mutation_p.S1898P	p.S1898P			Q9UKX3	MYH13_HUMAN			39	5855	-			1898					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5692T>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697033	0.68386	.	.	ENSG00000006788	ENST00000252172	T	0.78707	-1.2	3.76	2.57	0.30868	Myosin tail (1);	.	.	.	.	D	0.87366	0.6159	M	0.90759	3.145	0.28080	N	0.932221	P	0.50369	0.934	P	0.59424	0.857	T	0.79298	-0.1861	9	0.87932	D	0	.	9.7987	0.40751	0.8462:0.0:0.0:0.1538	.	1898	Q9UKX3	MYH13_HUMAN	P	1898	ENSP00000252172:S1898P	ENSP00000252172:S1898P	S	-	1	0	MYH13	10145721	0.001000	0.12720	1.000000	0.80357	0.938000	0.57974	0.032000	0.13732	1.704000	0.51252	0.397000	0.26171	TCC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		15	43	0	0	0	1	0	15	43				
SPTBN4	57731	broad.mit.edu	37	19	41026013	41026013	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41026013C>T	ENST00000352632.3	+	16	3695	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	SPTBN4_ENST00000338932.3_Silent_p.L1203L|SPTBN4_ENST00000598249.1_Silent_p.L1203L|SPTBN4_ENST00000344104.3_Silent_p.L1203L|SPTBN4_ENST00000595535.1_Silent_p.L1203L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1203					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTACCAGCTCTTCCTGCGGG	0.647																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3607-3609)ctC>ctT		spectrin, beta, non-erythrocytic 4							12.0	14.0	13.0					19																	41026013		2156	4209	6365	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41026013C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3609C>T	19.37:g.41026013C>T						SPTBN4_ENST00000598249.1_Silent_p.L1203L|SPTBN4_ENST00000344104.3_Silent_p.L1203L|SPTBN4_ENST00000338932.3_Silent_p.L1203L|SPTBN4_ENST00000595535.1_Silent_p.L1203L	p.L1203L			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3695	+			1203					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3609C>T	CCDS12559.1																																																																																				0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			13	46	0	0	0	1	0	13	46				
MTA2	9219	broad.mit.edu	37	11	62363555	62363555	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62363555G>A	ENST00000278823.2	-	12	1430	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	MTA2_ENST00000524902.1_Silent_p.I174I|MTA2_ENST00000527204.1_Silent_p.I174I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	347					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCACAGAAATGATCTGGTTAG	0.488																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1039-1041)atC>atT		metastasis associated 1 family, member 2							93.0	83.0	87.0					11																	62363555		2202	4299	6501	SO:0001819	synonymous_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62363555G>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1041C>T	11.37:g.62363555G>A						MTA2_ENST00000527204.1_Silent_p.I174I|MTA2_ENST00000524902.1_Silent_p.I174I	p.I347I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			12	1430	-			347					Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	c.1041C>T	CCDS8022.1																																																																																				0.488	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		19	51	0	0	0	1	0	19	51				
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	rs562343206		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(727-729)Cag>Tag		zinc finger protein 749							56.0	56.0	56.0					19																	57955243		2203	4300	6503	SO:0001587	stop_gained	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955243C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.727C>T	19.37:g.57955243C>T	ENSP00000333980:p.Gln243*					AC004076.9_ENST00000596831.1_Intron	p.Q243*	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	977	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	243		Q -> R (in dbSNP:rs12986235).				Nonsense_Mutation	SNP	ENST00000334181.4	37	c.727C>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	ZNF749	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG		0.413	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		18	100	0	0	0	1	0	18	100				
SH2D5	400745	broad.mit.edu	37	1	21050667	21050667	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:21050667G>A	ENST00000444387.2	-	7	1105	c.708C>T	c.(706-708)cgC>cgT	p.R236R	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Silent_p.R152R	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	236										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCCTTCTTGCGCACCAGCG	0.672																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(454-456)cgC>cgT		SH2 domain containing 5							54.0	63.0	60.0					1																	21050667		2100	4205	6305	SO:0001819	synonymous_variant	400745							g.chr1:21050667G>A	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.708C>T	1.37:g.21050667G>A						SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.R236R	p.R152R	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1080	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	152					B7Z3W3|Q5SSJ2	Silent	SNP	ENST00000444387.2	37	c.456C>T	CCDS44080.1																																																																																				0.672	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		41	82	0	0	0	1	0	41	82				
PTOV1	53635	broad.mit.edu	37	19	50360312	50360312	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50360312C>T	ENST00000601675.1	+	6	743	c.639C>T	c.(637-639)atC>atT	p.I213I	PTOV1_ENST00000600603.1_Silent_p.I181I|AC018766.5_ENST00000601893.1_RNA|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Silent_p.I181I|PTOV1_ENST00000598325.1_3'UTR|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000391842.1_Silent_p.I213I|PTOV1_ENST00000599732.1_Silent_p.I213I|PTOV1_ENST00000601638.1_Silent_p.I181I|AC018766.5_ENST00000599259.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	213	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGAAGAAGATCTTCATGGGCC	0.647																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(637-639)atC>atT		prostate tumor overexpressed 1							206.0	185.0	192.0					19																	50360312		2203	4299	6502	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360312C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.639C>T	19.37:g.50360312C>T						AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.I181I|PTOV1_ENST00000601675.1_Silent_p.I213I|PTOV1_ENST00000599732.1_Silent_p.I213I|PTOV1_ENST00000221557.9_Silent_p.I181I|PTOV1_ENST00000600603.1_Silent_p.I181I|PTOV1_ENST00000598325.1_3'UTR	p.I213I	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	809	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	213			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.639C>T	CCDS12782.1																																																																																				0.647	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		34	269	0	0	0	1	0	34	269				
MYO18B	84700	broad.mit.edu	37	22	26168328	26168328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26168328G>A	ENST00000407587.2	+	7	1889	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E574K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E574K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	574	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGTCGAGGACCTGGC	0.622																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1720-1722)Gag>Aag		myosin XVIIIB							107.0	106.0	106.0					22																	26168328		2002	4164	6166	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26168328G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1720G>A	22.37:g.26168328G>A	ENSP00000386096:p.Glu574Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E574K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E574K	p.E574K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			7	1970	+			574			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1720G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.198975	0.94997	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.73681	-0.77;-0.77;-0.77	5.24	5.24	0.73138	Myosin head, motor domain (2);	0.220702	0.37012	N	0.002294	D	0.84316	0.5445	M	0.79258	2.445	0.53005	D	0.999967	D;D;D;D	0.64830	0.987;0.994;0.99;0.992	P;P;P;P	0.57468	0.719;0.821;0.656;0.726	D	0.86737	0.1952	10	0.87932	D	0	.	17.8446	0.88725	0.0:0.0:1.0:0.0	.	87;574;574;574	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	574	ENSP00000441229:E574K;ENSP00000334563:E574K;ENSP00000386096:E574K	ENSP00000334563:E574K	E	+	1	0	MYO18B	24498328	1.000000	0.71417	0.933000	0.37362	0.717000	0.41224	8.685000	0.91246	2.445000	0.82738	0.655000	0.94253	GAG		0.622	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		61	204	0	0	0	1	0	61	204				
RASSF2	9770	broad.mit.edu	37	20	4768915	4768915	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:4768915C>G	ENST00000379400.3	-	9	835		c.e9-1		RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Splice_Site	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AATTCTCAATCTGAAGCAGGA	0.378																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.e9-1		Ras association (RalGDS/AF-6) domain family member 2							113.0	113.0	113.0					20																	4768915		2203	4300	6503	SO:0001630	splice_region_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768915C>G	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.640-1G>C	20.37:g.4768915C>G						RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Splice_Site		NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			9	835	-								A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Splice_Site	SNP	ENST00000379400.3	37		CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174476	0.78452	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4242	0.87522	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASSF2	4716915	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.298000	0.59067	2.698000	0.92095	0.655000	0.94253	.		0.378	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	Intron	13	49	0	0	0	1	0	13	49				
UBAC2	337867	broad.mit.edu	37	13	100037588	100037588	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:100037588G>A	ENST00000403766.3	+	9	1169	c.1034G>A	c.(1033-1035)tGa>tAa	p.*345*	UBAC2_ENST00000376440.2_Silent_p.*310*|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGCAGCACTGATAGTCCCAG	0.582																																						ENST00000376440.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10						c.(928-930)tGa>tAa		UBA domain containing 2							55.0	48.0	50.0					13																	100037588		2203	4300	6503	SO:0001819	synonymous_variant	337867					integral to membrane		g.chr13:100037588G>A	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.1034G>A	13.37:g.100037588G>A						UBAC2_ENST00000403766.3_Silent_p.*345*|UBAC2_ENST00000460562.1_3'UTR	p.*310*	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN			7	1432	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		0			UBA.		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Silent	SNP	ENST00000403766.3	37	c.929G>A	CCDS45064.1																																																																																				0.582	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		26	29	0	0	0	1	0	26	29				
FBXO27	126433	broad.mit.edu	37	19	39517548	39517548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:39517548C>G	ENST00000292853.4	-	5	789	c.670G>C	c.(670-672)Gat>Cat	p.D224H	FBXO27_ENST00000509137.2_Missense_Mutation_p.D224H|FBXO27_ENST00000600828.1_Missense_Mutation_p.D223H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	224	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGATGGGATCAGGCACAGCA	0.532																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(670-672)Gat>Cat		F-box protein 27							194.0	178.0	183.0					19																	39517548		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517548C>G	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.670G>C	19.37:g.39517548C>G	ENSP00000292853:p.Asp224His					FBXO27_ENST00000509137.2_Missense_Mutation_p.D224H|FBXO27_ENST00000600828.1_Missense_Mutation_p.D223H	p.D224H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	789	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		224			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.670G>C	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124121	0.20959	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.31769	1.48;1.48	3.92	0.178	0.15058	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.644116	0.13092	N	0.414436	T	0.21468	0.0517	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.24297	-1.0164	10	0.44086	T	0.13	-0.7357	2.2782	0.04107	0.2247:0.4864:0.1797:0.1092	.	224	Q8NI29	FBX27_HUMAN	H	224	ENSP00000292853:D224H;ENSP00000437662:D224H	ENSP00000292853:D224H	D	-	1	0	FBXO27	44209388	0.001000	0.12720	0.000000	0.03702	0.171000	0.22731	0.926000	0.28804	0.015000	0.14971	-0.479000	0.04858	GAT		0.532	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			14	265	0	0	0	1	0	14	265				
FANCD2	2177	broad.mit.edu	37	3	10089666	10089666	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:10089666G>A	ENST00000419585.1	+	16	1505	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	FANCD2_ENST00000383807.1_Silent_p.Q448Q|FANCD2_ENST00000383806.1_Silent_p.Q448Q|FANCD2_ENST00000287647.3_Silent_p.Q448Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	448					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTCTAGACCAGAGTATAATTT	0.403			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1342-1344)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							153.0	156.0	155.0					3																	10089666		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10089666G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1344G>A	3.37:g.10089666G>A						FANCD2_ENST00000383807.1_Silent_p.Q448Q|FANCD2_ENST00000419585.1_Silent_p.Q448Q|FANCD2_ENST00000383806.1_Silent_p.Q448Q	p.Q448Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1437	+			448					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.1344G>A	CCDS33696.1																																																																																				0.403	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			17	157	0	0	0	1	0	17	157				
DCC	1630	broad.mit.edu	37	18	51025691	51025691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:51025691C>T	ENST00000442544.2	+	27	4538	c.3922C>T	c.(3922-3924)Caa>Taa	p.Q1308*	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Nonsense_Mutation_p.Q941*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1308					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCAACTACCCAACAACCACC	0.512																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3922-3924)Caa>Taa		deleted in colorectal carcinoma							169.0	141.0	150.0					18																	51025691		2203	4300	6503	SO:0001587	stop_gained	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51025691C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3922C>T	18.37:g.51025691C>T	ENSP00000389140:p.Gln1308*					DCC_ENST00000581580.1_Nonsense_Mutation_p.Q941*|RP11-671P2.1_ENST00000582064.1_RNA	p.Q1308*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	27	4538	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1308						Nonsense_Mutation	SNP	ENST00000442544.2	37	c.3922C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	45	11.736745	0.99597	.	.	ENSG00000187323	ENST00000442544	.	.	.	6.17	6.17	0.99709	.	0.071154	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.223	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	1308	.	ENSP00000389140:Q1308X	Q	+	1	0	DCC	49279689	1.000000	0.71417	0.583000	0.28640	0.954000	0.61252	5.744000	0.68664	2.941000	0.99782	0.655000	0.94253	CAA		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	51	0	0	0	1	0	11	51				
SIDT1	54847	broad.mit.edu	37	3	113300226	113300226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:113300226G>A	ENST00000264852.4	+	6	1408	c.682G>A	c.(682-684)Gac>Aac	p.D228N	SIDT1_ENST00000393830.3_Missense_Mutation_p.D228N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	228					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTATGATCTCGACCACAATGT	0.463																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(682-684)Gac>Aac		SID1 transmembrane family, member 1							199.0	156.0	170.0					3																	113300226		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113300226G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.682G>A	3.37:g.113300226G>A	ENSP00000264852:p.Asp228Asn					SIDT1_ENST00000393830.3_Missense_Mutation_p.D228N	p.D228N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			6	1408	+			228					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.682G>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140260	0.77775	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22134	1.97;1.97	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.45397	0.1340	M	0.65975	2.015	0.50313	D	0.999866	D	0.89917	1.0	D	0.81914	0.995	T	0.20806	-1.0264	10	0.36615	T	0.2	-19.0511	17.6865	0.88257	0.0:0.0:1.0:0.0	.	228	Q9NXL6	SIDT1_HUMAN	N	228	ENSP00000264852:D228N;ENSP00000377416:D228N	ENSP00000264852:D228N	D	+	1	0	SIDT1	114782916	1.000000	0.71417	0.976000	0.42696	0.663000	0.39108	7.014000	0.76380	2.528000	0.85240	0.591000	0.81541	GAC		0.463	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		17	45	0	0	0	1	0	17	45				
MYPN	84665	broad.mit.edu	37	10	69948683	69948683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:69948683G>C	ENST00000358913.5	+	13	3213	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E634Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E909Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	909					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCAAGCTTTGAGCAGAGGCT	0.408																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(2725-2727)Gag>Cag		myopalladin							85.0	82.0	83.0					10																	69948683		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69948683G>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2725G>C	10.37:g.69948683G>C	ENSP00000351790:p.Glu909Gln					MYPN_ENST00000354393.2_Missense_Mutation_p.E634Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E909Q	p.E909Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			13	3213	+			909					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2725G>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174328	0.94807	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.63744	-0.06;-0.04;-0.06	5.83	5.83	0.93111	.	0.052931	0.85682	D	0.000000	T	0.76912	0.4054	L	0.54323	1.7	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.929	D;D;B	0.87578	0.998;0.998;0.386	T	0.73369	-0.4004	9	.	.	.	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	909;634;909	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Q	634;634;909;909	ENSP00000346369:E634Q;ENSP00000351790:E909Q;ENSP00000441668:E909Q	.	E	+	1	0	MYPN	69618689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.757000	0.94681	0.563000	0.77884	GAG		0.408	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		10	16	0	0	0	1	0	10	16				
COQ3	51805	broad.mit.edu	37	6	99817632	99817632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:99817632C>T	ENST00000254759.3	-	7	978	c.954G>A	c.(952-954)tgG>tgA	p.W318*	COQ3_ENST00000369240.1_Nonsense_Mutation_p.W90*|COQ3_ENST00000369242.1_Nonsense_Mutation_p.W90*	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	318					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TATTTTCACTCCAATGCCAGT	0.408																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(952-954)tgG>tgA		coenzyme Q3 methyltransferase							132.0	133.0	133.0					6																	99817632		2203	4300	6503	SO:0001587	stop_gained	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817632C>T	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.954G>A	6.37:g.99817632C>T	ENSP00000254759:p.Trp318*					COQ3_ENST00000369242.1_Nonsense_Mutation_p.W90*|COQ3_ENST00000369240.1_Nonsense_Mutation_p.W90*	p.W318*	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	978	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	318					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Nonsense_Mutation	SNP	ENST00000254759.3	37	c.954G>A	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	C	39	7.692011	0.98434	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-14.2855	19.2406	0.93881	0.0:1.0:0.0:0.0	.	.	.	.	X	318;90;90	.	ENSP00000254759:W318X	W	-	3	0	COQ3	99924353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.875000	0.75551	2.631000	0.89168	0.650000	0.86243	TGG		0.408	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		62	67	0	0	0	1	0	62	67				
CRYBB1	1414	broad.mit.edu	37	22	26995538	26995538	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26995538C>T	ENST00000215939.2	-	6	805	c.675G>A	c.(673-675)caG>caA	p.Q225Q	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGGACTGCATCTGTGGCTGGA	0.617																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(673-675)caG>caA		crystallin, beta B1							67.0	57.0	60.0					22																	26995538		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995538C>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.675G>A	22.37:g.26995538C>T							p.Q225Q	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	805	-			225			Beta/gamma crystallin 'Greek key' 4.			Silent	SNP	ENST00000215939.2	37	c.675G>A	CCDS13840.1																																																																																				0.617	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		20	81	0	0	0	1	0	20	81				
CTDP1	9150	broad.mit.edu	37	18	77477674	77477674	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:77477674G>A	ENST00000299543.7	+	9	2355	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	CTDP1_ENST00000075430.7_Silent_p.Q736Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	736					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAAGGCACAGAGGTGGGTCC	0.647																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2206-2208)caG>caA		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							100.0	95.0	97.0					18																	77477674		2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477674G>A	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2208G>A	18.37:g.77477674G>A						CTDP1_ENST00000075430.7_Silent_p.Q736Q	p.Q736Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	9	2355	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	736					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.2208G>A	CCDS12017.1																																																																																				0.647	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		25	48	0	0	0	1	0	25	48				
EDEM2	55741	broad.mit.edu	37	20	33711712	33711712	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:33711712C>G	ENST00000374492.3	-	9	1200	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	EDEM2_ENST00000540582.1_Missense_Mutation_p.E324D|EDEM2_ENST00000541621.1_Missense_Mutation_p.E144D|EDEM2_ENST00000542871.1_Missense_Mutation_p.E89D|EDEM2_ENST00000374491.3_Missense_Mutation_p.E328D	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	365					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGGGTAGCCCTCTCGCTTCT	0.542																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(970-972)gaG>gaC		ER degradation enhancer, mannosidase alpha-like 2							98.0	85.0	89.0					20																	33711712		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33711712C>G	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1095G>C	20.37:g.33711712C>G	ENSP00000363616:p.Glu365Asp					EDEM2_ENST00000542871.1_Missense_Mutation_p.E89D|EDEM2_ENST00000541621.1_Missense_Mutation_p.E144D|EDEM2_ENST00000374491.2_Missense_Mutation_p.E328D|EDEM2_ENST00000374492.3_Missense_Mutation_p.E365D	p.E324D			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		13	1693	-			365					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.972G>C	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063761	0.36373	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.92	1.39	0.22231	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	N	0.21583	0.68	0.58432	D	0.999991	B;P;B;B	0.35628	0.032;0.513;0.096;0.196	B;B;B;B	0.37943	0.012;0.261;0.134;0.21	T	0.47302	-0.9128	10	0.46703	T	0.11	-25.9516	7.5899	0.28015	0.0:0.4903:0.0:0.5097	.	324;144;328;365	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	D	328;365;144;89;324	ENSP00000363615:E328D;ENSP00000363616:E365D;ENSP00000443528:E144D;ENSP00000441642:E89D;ENSP00000441548:E324D	ENSP00000363615:E328D	E	-	3	2	EDEM2	33175373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.745000	0.26259	0.412000	0.25729	-0.140000	0.14226	GAG		0.542	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		13	47	0	0	0	1	0	13	47				
LIPE	3991	broad.mit.edu	37	19	42914791	42914791	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:42914791C>G	ENST00000244289.4	-	2	1363	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	363					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGTCCAGGTCAAAGAGGTGC	0.687																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1087-1089)Gac>Cac		lipase, hormone-sensitive							26.0	26.0	26.0					19																	42914791		2203	4299	6502	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42914791C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1087G>C	19.37:g.42914791C>G	ENSP00000244289:p.Asp363His					LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron	p.D363H	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			2	1363	-		Prostate(69;0.00682)	363					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1087G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603797	0.66445	.	.	ENSG00000079435	ENST00000244289	T	0.53640	0.61	4.15	4.15	0.48705	Hormone-sensitive lipase, N-terminal (1);	0.067195	0.56097	N	0.000032	T	0.71005	0.3289	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.74674	0.984;0.88	T	0.77699	-0.2490	10	0.87932	D	0	-33.6965	15.7465	0.77949	0.0:1.0:0.0:0.0	.	363;363	A8K8W7;Q05469	.;LIPS_HUMAN	H	363	ENSP00000244289:D363H	ENSP00000244289:D363H	D	-	1	0	LIPE	47606631	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	6.139000	0.71728	2.328000	0.79073	0.455000	0.32223	GAC		0.687	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	54	0	0	0	1	0	13	54				
UBTF	7343	broad.mit.edu	37	17	42288225	42288225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42288225G>A	ENST00000302904.4	-	13	1786	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	UBTF_ENST00000533177.1_Missense_Mutation_p.L395F|UBTF_ENST00000529383.1_Missense_Mutation_p.L432F|UBTF_ENST00000343638.5_Missense_Mutation_p.L395F|UBTF_ENST00000393606.3_Missense_Mutation_p.L395F|UBTF_ENST00000527034.1_Missense_Mutation_p.L395F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.L395F|UBTF_ENST00000436088.1_Missense_Mutation_p.L432F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	432					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCTCGGAGAGCTCAGGCCGC	0.667																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1294-1296)Ctc>Ttc		upstream binding transcription factor, RNA polymerase I							10.0	13.0	12.0					17																	42288225		2176	4261	6437	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42288225G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1294C>T	17.37:g.42288225G>A	ENSP00000302640:p.Leu432Phe					UBTF_ENST00000343638.5_Missense_Mutation_p.L395F|UBTF_ENST00000393606.3_Missense_Mutation_p.L395F|UBTF_ENST00000529383.1_Missense_Mutation_p.L432F|UBTF_ENST00000436088.1_Missense_Mutation_p.L432F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.L395F|UBTF_ENST00000527034.1_Missense_Mutation_p.L395F|UBTF_ENST00000526094.1_Missense_Mutation_p.L395F	p.L432F			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	13	1786	-		Breast(137;0.00765)|Prostate(33;0.0181)	432					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1294C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	34	5.343922	0.95807	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.076647	0.53938	D	0.000055	D	0.97848	0.9293	M	0.62088	1.915	0.80722	D	1	P;P;P	0.51147	0.922;0.859;0.942	P;B;P	0.52386	0.564;0.387;0.697	D	0.97787	1.0236	10	0.48119	T	0.1	-11.1368	14.904	0.70703	0.0:0.0:1.0:0.0	.	395;395;432	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	F	395;432;395;395;432;395;395;432;19	ENSP00000345297:L395F;ENSP00000302640:L432F;ENSP00000431539:L395F;ENSP00000437180:L395F;ENSP00000390669:L432F;ENSP00000377231:L395F;ENSP00000432925:L395F;ENSP00000435708:L432F;ENSP00000431295:L19F	ENSP00000302640:L432F	L	-	1	0	UBTF	39643751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.979000	0.70508	2.263000	0.75096	0.491000	0.48974	CTC		0.667	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		6	7	0	0	0	1	0	6	7				
ZNF292	23036	broad.mit.edu	37	6	87970506	87970506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:87970506C>G	ENST00000369577.3	+	8	7202	c.7159C>G	c.(7159-7161)Cca>Gca	p.P2387A	ZNF292_ENST00000339907.4_Missense_Mutation_p.P2382A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2387						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACCCAGTATCCATGTATGAT	0.343																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7159-7161)Cca>Gca		zinc finger protein 292							51.0	49.0	50.0					6																	87970506		1857	4099	5956	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970506C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7159C>G	6.37:g.87970506C>G	ENSP00000358590:p.Pro2387Ala					ZNF292_ENST00000339907.4_Missense_Mutation_p.P2382A	p.P2387A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7202	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2387					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.7159C>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751976	0.49362	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.29655	1.56;1.58	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);	0.049310	0.85682	D	0.000000	T	0.47060	0.1425	M	0.64404	1.975	0.43965	D	0.996643	D	0.76494	0.999	D	0.80764	0.994	T	0.20706	-1.0267	10	0.38643	T	0.18	.	19.668	0.95900	0.0:1.0:0.0:0.0	.	2387	O60281	ZN292_HUMAN	A	2387;2382	ENSP00000358590:P2387A;ENSP00000342847:P2382A	ENSP00000342847:P2382A	P	+	1	0	ZNF292	88027225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.663000	0.90544	0.591000	0.81541	CCA		0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	21	0	0	0	1	0	8	21				
ARMC5	79798	broad.mit.edu	37	16	31473901	31473901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31473901C>T	ENST00000563544.1	+	4	1579	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	ARMC5_ENST00000538189.1_Nonsense_Mutation_p.Q377*|ARMC5_ENST00000408912.3_Nonsense_Mutation_p.Q440*|ARMC5_ENST00000457010.2_Nonsense_Mutation_p.Q345*|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Nonsense_Mutation_p.Q345*			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	345										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAACCTCCCAGCAGCCCCT	0.652																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1033-1035)Cag>Tag		armadillo repeat containing 5							38.0	43.0	41.0					16																	31473901		1982	4150	6132	SO:0001587	stop_gained	79798						binding	g.chr16:31473901C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1033C>T	16.37:g.31473901C>T	ENSP00000456877:p.Gln345*					ARMC5_ENST00000408912.3_Nonsense_Mutation_p.Q440*|ARMC5_ENST00000563544.1_Nonsense_Mutation_p.Q345*|ARMC5_ENST00000538189.1_Nonsense_Mutation_p.Q377*|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Nonsense_Mutation_p.Q345*	p.Q345*	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1734	+			345					Q86WM9|Q9H7P8|Q9H925	Nonsense_Mutation	SNP	ENST00000563544.1	37	c.1033C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	36	5.779427	0.96929	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	.	.	.	4.8	4.8	0.61643	.	0.251286	0.40385	N	0.001119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-15.2619	13.3511	0.60603	0.0:1.0:0.0:0.0	.	.	.	.	X	440;377;345;345	.	ENSP00000268314:Q345X	Q	+	1	0	ARMC5	31381402	0.998000	0.40836	0.934000	0.37439	0.420000	0.31355	3.755000	0.55197	2.217000	0.71921	0.457000	0.33378	CAG		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		23	54	0	0	0	1	0	23	54				
XPO1	7514	broad.mit.edu	37	2	61720111	61720111	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61720111C>T	ENST00000401558.2	-	13	2050	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	XPO1_ENST00000404992.2_Silent_p.V441V|XPO1_ENST00000406957.1_Silent_p.V441V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	441	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAATTCTCTCACAACTTCTC	0.313			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1321-1323)gtG>gtA		exportin 1 (CRM1 homolog, yeast)							110.0	113.0	112.0					2																	61720111		2203	4299	6502	SO:0001819	synonymous_variant	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61720111C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1323G>A	2.37:g.61720111C>T						XPO1_ENST00000406957.1_Silent_p.V441V|XPO1_ENST00000404992.2_Silent_p.V441V	p.V441V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		13	2050	-			441			Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	c.1323G>A	CCDS33205.1																																																																																				0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		51	46	0	0	0	1	0	51	46				
SREBF1	6720	broad.mit.edu	37	17	17722719	17722719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:17722719G>A	ENST00000261646.5	-	4	945	c.761C>T	c.(760-762)gCc>gTc	p.A254V	SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000355815.4_Missense_Mutation_p.A284V|SREBF1_ENST00000435530.2_Missense_Mutation_p.A254V|SREBF1_ENST00000338854.5_Missense_Mutation_p.A254V|SREBF1_ENST00000583732.1_5'UTR	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	254	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTCTTCATGGCTGTCAGAAG	0.632																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(850-852)gCc>gTc		sterol regulatory element binding transcription factor 1							86.0	85.0	85.0					17																	17722719		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722719G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.761C>T	17.37:g.17722719G>A	ENSP00000261646:p.Ala254Val					SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000435530.2_Missense_Mutation_p.A254V|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.A254V|SREBF1_ENST00000261646.5_Missense_Mutation_p.A254V	p.A284V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			5	1020	-			254			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.851C>T	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767217	0.31320	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000423161;ENST00000435530	T;T;T;T	0.78364	0.56;0.59;0.57;-1.17	4.74	4.74	0.60224	.	0.242622	0.41294	D	0.000904	T	0.73426	0.3585	L	0.56769	1.78	0.31971	N	0.607166	B;B;B;P	0.36010	0.034;0.009;0.397;0.532	B;B;B;B	0.34138	0.063;0.027;0.176;0.133	T	0.76484	-0.2942	10	0.25106	T	0.35	-13.5756	16.3054	0.82846	0.0:0.0:1.0:0.0	.	254;230;254;284	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	V	254;284;254;180;254	ENSP00000345822:A254V;ENSP00000348069:A284V;ENSP00000261646:A254V;ENSP00000413389:A254V	ENSP00000261646:A254V	A	-	2	0	SREBF1	17663444	0.999000	0.42202	0.161000	0.22692	0.186000	0.23388	9.363000	0.97131	2.167000	0.68274	0.561000	0.74099	GCC		0.632	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		38	77	0	0	0	1	0	38	77				
KDM5B	10765	broad.mit.edu	37	1	202710590	202710590	+	Silent	SNP	C	C	A	rs141076441		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:202710590C>A	ENST00000367265.3	-	19	4014	c.2850G>T	c.(2848-2850)ccG>ccT	p.P950P	KDM5B_ENST00000367264.2_Silent_p.P986P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	950					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCTGAATACGGGGCCAGCC	0.557																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2848-2850)ccG>ccT		lysine (K)-specific demethylase 5B							71.0	68.0	69.0					1																	202710590		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202710590C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2850G>T	1.37:g.202710590C>A						KDM5B_ENST00000367264.2_Silent_p.P986P	p.P950P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			19	4014	-			950					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.2850G>T	CCDS30974.1																																																																																				0.557	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		60	26	1	0	3.57465e-26	1	3.96639e-26	60	26				
SYNM	23336	broad.mit.edu	37	15	99653797	99653797	+	Splice_Site	SNP	G	G	C	rs546665368		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:99653797G>C	ENST00000336292.6	+	3	929	c.809G>C	c.(808-810)aGa>aCa	p.R270T	SYNM_ENST00000560674.1_5'UTR|SYNM_ENST00000328642.7_Splice_Site_p.R270T|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	271	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTCTTTAGAGAGTGATTGAC	0.498																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.e3-1		synemin, intermediate filament protein							50.0	52.0	52.0					15																	99653797		2072	4207	6279	SO:0001630	splice_region_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99653797G>C	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.808-1G>C	15.37:g.99653797G>C						SYNM_ENST00000328642.7_Splice_Site_p.R270_splice|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_5'UTR	p.R270_splice	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			3	929	+			271			Coil 2.|Interaction with DMD and UTRN.|Rod.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Splice_Site	SNP	ENST00000336292.6	37	c.807_splice		.	.	.	.	.	.	.	.	.	.	G	14.46	2.541678	0.45280	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.88818	-2.43;-2.43	5.57	4.65	0.58169	Filament (1);	.	.	.	.	D	0.91895	0.7434	.	.	.	0.36789	D	0.884763	D;D	0.58268	0.977;0.982	P;D	0.64877	0.755;0.93	D	0.92064	0.5659	8	0.45353	T	0.12	.	7.7436	0.28856	0.0823:0.0:0.7542:0.1635	.	271;270	O15061;C9JIE4	SYNEM_HUMAN;.	T	270	ENSP00000336775:R270T;ENSP00000330469:R270T	ENSP00000330469:R270T	R	+	2	0	SYNM	97471320	0.996000	0.38824	0.849000	0.33467	0.851000	0.48451	2.860000	0.48372	2.621000	0.88768	0.655000	0.94253	AGA		0.498	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728	Missense_Mutation	21	23	0	0	0	1	0	21	23				
M1AP	130951	broad.mit.edu	37	2	74867368	74867368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:74867368G>A	ENST00000290536.5	-	2	151	c.35C>T	c.(34-36)tCt>tTt	p.S12F	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.S12F|M1AP_ENST00000409585.1_Missense_Mutation_p.S12F	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	12					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGTGTGAGTAGAGGGCCCTTT	0.532																																						ENST00000290536.5																			0											c.(34-36)tCt>tTt		meiosis 1 associated protein							117.0	109.0	112.0					2																	74867368		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74867368G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.35C>T	2.37:g.74867368G>A	ENSP00000290536:p.Ser12Phe					M1AP_ENST00000409585.1_Missense_Mutation_p.S12F|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.S12F	p.S12F	NM_138804.3	NP_620159.2					2	151	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.35C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679486	0.68042	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.54	4.47	0.54385	.	1.391320	0.03981	N	0.293330	T	0.39572	0.1083	L	0.57536	1.79	0.20975	N	0.999816	P;P;P	0.48016	0.904;0.703;0.904	P;B;P	0.45971	0.499;0.336;0.499	T	0.20806	-1.0264	10	0.33141	T	0.24	-4.6651	10.1559	0.42823	0.1052:0.0:0.8948:0.0	.	12;12;12	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	F	12	ENSP00000290536:S12F;ENSP00000386793:S12F;ENSP00000445662:S12F;ENSP00000414882:S12F	ENSP00000290536:S12F	S	-	2	0	C2orf65	74720876	0.016000	0.18221	0.075000	0.20258	0.600000	0.36913	2.025000	0.41059	2.597000	0.87782	0.655000	0.94253	TCT		0.532	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		13	37	0	0	0	1	0	13	37				
PGM2L1	283209	broad.mit.edu	37	11	74056608	74056608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:74056608C>T	ENST00000298198.4	-	9	1435	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	375					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATCAGCATTTCTTGATTTATT	0.373																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1123-1125)aGa>aAa		phosphoglucomutase 2-like 1							138.0	126.0	130.0					11																	74056608		2200	4293	6493	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74056608C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1124G>A	11.37:g.74056608C>T	ENSP00000298198:p.Arg375Lys						p.R375K	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			9	1435	-	Breast(11;3.32e-06)		375					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1124G>A	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	5.088	0.201897	0.09652	.	.	ENSG00000165434	ENST00000298198	T	0.16743	2.32	4.85	-1.62	0.08372	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.426913	0.24445	N	0.038473	T	0.05181	0.0138	N	0.08118	0	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.41070	-0.9529	10	0.02654	T	1	-1.7166	6.324	0.21232	0.0:0.375:0.4171:0.2079	.	375	Q6PCE3	PGM2L_HUMAN	K	375	ENSP00000298198:R375K	ENSP00000298198:R375K	R	-	2	0	PGM2L1	73734256	0.000000	0.05858	0.988000	0.46212	0.979000	0.70002	0.079000	0.14782	-0.102000	0.12197	0.650000	0.86243	AGA		0.373	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		15	81	0	0	0	1	0	15	81				
ITGBL1	9358	broad.mit.edu	37	13	102227846	102227846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:102227846G>A	ENST00000376180.3	+	4	754	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ITGBL1_ENST00000545560.2_Missense_Mutation_p.E38K|ITGBL1_ENST00000376162.3_Missense_Mutation_p.E86K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	179	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATTTTGTGAGTGTGACGA	0.348																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(535-537)Gag>Aag		integrin, beta-like 1 (with EGF-like repeat domains)							268.0	246.0	254.0					13																	102227846		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102227846G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.535G>A	13.37:g.102227846G>A	ENSP00000365351:p.Glu179Lys					ITGBL1_ENST00000376162.3_Missense_Mutation_p.E86K|ITGBL1_ENST00000545560.2_Missense_Mutation_p.E38K	p.E179K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			4	754	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		179			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.535G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605899	0.96626	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.97279	-4.32;-4.32;-4.32	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.89214	3.015	0.80722	D	1	P;D	0.76494	0.891;0.999	P;D	0.87578	0.877;0.998	D	0.99143	1.0856	10	0.72032	D	0.01	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	38;179	B3KTP1;O95965	.;ITGBL_HUMAN	K	179;87;38;38;86	ENSP00000365351:E179K;ENSP00000439903:E38K;ENSP00000365332:E86K	ENSP00000365332:E86K	E	+	1	0	ITGBL1	101025847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	GAG		0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		38	144	0	0	0	1	0	38	144				
MYH6	4624	broad.mit.edu	37	14	23852493	23852493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23852493C>T	ENST00000356287.3	-	36	5631	c.5602G>A	c.(5602-5604)Gac>Aac	p.D1868N	MYH6_ENST00000405093.3_Missense_Mutation_p.D1868N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1868					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCAGGTCCTGTAGCCGC	0.562																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5602-5604)Gac>Aac		myosin, heavy chain 6, cardiac muscle, alpha							77.0	67.0	71.0					14																	23852493		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23852493C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5602G>A	14.37:g.23852493C>T	ENSP00000348634:p.Asp1868Asn					MYH6_ENST00000356287.3_Missense_Mutation_p.D1868N	p.D1868N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	37	5672	-	all_cancers(95;2.54e-05)		1868					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5602G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.453468	0.96223	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81996	-1.56;-1.56	4.47	4.47	0.54385	Myosin tail (1);	.	.	.	.	D	0.92580	0.7643	M	0.93763	3.455	0.80722	D	1	P	0.34743	0.466	P	0.52066	0.689	D	0.93888	0.7177	9	0.72032	D	0.01	.	17.6928	0.88273	0.0:1.0:0.0:0.0	.	1868	P13533	MYH6_HUMAN	N	1868	ENSP00000386041:D1868N;ENSP00000348634:D1868N	ENSP00000348634:D1868N	D	-	1	0	MYH6	22922333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.621000	0.83083	2.478000	0.83669	0.561000	0.74099	GAC		0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			67	88	0	0	0	1	0	67	88				
ZMAT4	79698	broad.mit.edu	37	8	40554786	40554786	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:40554786C>T	ENST00000297737.6	-	4	473	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZMAT4_ENST00000315769.7_Silent_p.E109E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	109						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATGGGGTCTTCTCTCCTAGCA	0.512																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(325-327)gaG>gaA		zinc finger, matrin-type 4							208.0	192.0	198.0					8																	40554786		2203	4300	6503	SO:0001819	synonymous_variant	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554786C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.327G>A	8.37:g.40554786C>T						ZMAT4_ENST00000315769.7_Silent_p.E109E	p.E109E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	473	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	109					Q8WUT8	Silent	SNP	ENST00000297737.6	37	c.327G>A	CCDS34885.1																																																																																				0.512	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		11	122	0	0	0	1	0	11	122				
TRIM48	79097	broad.mit.edu	37	11	55036718	55036718	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:55036718G>A	ENST00000417545.2	+	5	665	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	177						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTCCTTGCAGGAGTGAGTCCG	0.463																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e5-1		tripartite motif containing 48							26.0	23.0	24.0					11																	55036718		2055	3906	5961	SO:0001630	splice_region_variant	79097					intracellular	zinc ion binding	g.chr11:55036718G>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.579-1G>A	11.37:g.55036718G>A							p.R193_splice	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	665	+			177					Q9BUW4	Splice_Site	SNP	ENST00000417545.2	37	c.578_splice	CCDS7947.2																																																																																				0.463	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1		Silent	13	4	0	0	0	1	0	13	4				
WDR83	84292	broad.mit.edu	37	19	12781380	12781380	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12781380G>T	ENST00000418543.3	+	6	683	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	WDR83OS_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000600694.1_Intron|WDR83_ENST00000242796.4_Missense_Mutation_p.V112L	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	112					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						TTCTCAGAAGGTGAACACGGT	0.577																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(334-336)Gtg>Ttg		WD repeat domain 83							182.0	191.0	188.0					19																	12781380		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12781380G>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.334G>T	19.37:g.12781380G>T	ENSP00000402653:p.Val112Leu					WDR83OS_ENST00000600694.1_Intron|WDR83_ENST00000242796.4_Missense_Mutation_p.V112L|WDR83OS_ENST00000596731.1_5'UTR	p.V112L	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			6	683	+			112					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.334G>T	CCDS12275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.325892|5.325892	0.95708|0.95708	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000547797|ENST00000418543;ENST00000242796	.|T;T	.|0.73363	.|-0.74;-0.74	5.21|5.21	5.21|5.21	0.72293|0.72293	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.055638	.|0.64402	.|D	.|0.000001	D|D	0.84009|0.84009	0.5378|0.5378	M|M	0.76328|0.76328	2.33|2.33	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.57899	.|0.981	.|P	.|0.58077	.|0.832	D|D	0.86128|0.86128	0.1573|0.1573	5|10	.|0.87932	.|D	.|0	.|.	17.8801|17.8801	0.88838|0.88838	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|112	.|Q9BRX9	.|WDR83_HUMAN	S|L	14|112	.|ENSP00000402653:V112L;ENSP00000242796:V112L	.|ENSP00000242796:V112L	R|V	+|+	3|1	2|0	WDR83|WDR83	12642380|12642380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.660000|6.660000	0.74417|0.74417	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.577	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		73	350	1	0	1.14856e-27	1	1.28146e-27	73	350				
SMG1	23049	broad.mit.edu	37	16	18849386	18849386	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:18849386C>G	ENST00000446231.2	-	45	7775	c.7363G>C	c.(7363-7365)Gag>Cag	p.E2455Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E2455Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2455	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTCTCGCTCCATCTCTCTC	0.517																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7363-7365)Gag>Cag		SMG1 phosphatidylinositol 3-kinase-related kinase							38.0	40.0	39.0					16																	18849386		2061	4203	6264	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18849386C>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7363G>C	16.37:g.18849386C>G	ENSP00000402515:p.Glu2455Gln					SMG1_ENST00000389467.3_Missense_Mutation_p.E2455Q	p.E2455Q			Q96Q15	SMG1_HUMAN			45	7775	-			2455			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7363G>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478756	0.84747	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01304	5.03;5.03	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.64402	D	0.000001	T	0.09992	0.0245	M	0.79011	2.435	0.53688	D	0.999975	D	0.63880	0.993	D	0.72982	0.979	T	0.00081	-1.2106	10	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	2455	Q96Q15	SMG1_HUMAN	Q	2455	ENSP00000402515:E2455Q;ENSP00000374118:E2455Q	ENSP00000374118:E2455Q	E	-	1	0	SMG1	18756887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.865000	0.98341	0.655000	0.94253	GAG		0.517	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	42	0	0	0	1	0	7	42				
GLI4	2738	broad.mit.edu	37	8	144358465	144358465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:144358465G>A	ENST00000523522.1	+	3	661	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.E208K|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	208					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCACACGGGCGAGAAGCCCTA	0.672																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(622-624)Gag>Aag		GLI family zinc finger 4							18.0	20.0	19.0					8																	144358465		2189	4277	6466	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358465G>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.622G>A	8.37:g.144358465G>A	ENSP00000430987:p.Glu208Lys					GLI4_ENST00000523522.1_Missense_Mutation_p.E208K|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR	p.E208K	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	707	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		208					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.622G>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149081	0.57151	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.24350	1.86;1.86	3.9	3.9	0.45041	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43277	0.1240	L	0.60957	1.885	0.25072	N	0.990986	D	0.69078	0.997	P	0.60173	0.87	T	0.22730	-1.0208	9	0.87932	D	0	.	13.4818	0.61340	0.0:0.0:1.0:0.0	.	208	P10075	GLI4_HUMAN	K	208	ENSP00000345024:E208K;ENSP00000430987:E208K	ENSP00000345024:E208K	E	+	1	0	GLI4	144429840	1.000000	0.71417	0.995000	0.50966	0.066000	0.16364	5.834000	0.69361	2.001000	0.58596	0.508000	0.49915	GAG		0.672	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			10	51	0	0	0	1	0	10	51				
MYCBP2	23077	broad.mit.edu	37	13	77765925	77765925	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:77765925T>C	ENST00000544440.2	-	28	3862	c.3845A>G	c.(3844-3846)gAt>gGt	p.D1282G	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D1320G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1282G					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACAGGCTCATCAAACATCAT	0.408																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3958-3960)gAt>gGt		MYC binding protein 2, E3 ubiquitin protein ligase							80.0	70.0	74.0					13																	77765925		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77765925T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3845A>G	13.37:g.77765925T>C	ENSP00000444596:p.Asp1282Gly					MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1282G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1282G|MYCBP2_ENST00000360084.5_5'UTR	p.D1320G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	28	4225	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1282						Missense_Mutation	SNP	ENST00000544440.2	37	c.3959A>G		.	.	.	.	.	.	.	.	.	.	T	26.4	4.731480	0.89390	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29917	1.55;1.55;1.55	5.55	5.55	0.83447	PHR (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.46157	1.445	0.80722	D	1	D	0.55172	0.97	P	0.60682	0.878	T	0.41610	-0.9499	10	0.62326	D	0.03	.	15.9963	0.80250	0.0:0.0:0.0:1.0	.	1282	O75592	MYCB2_HUMAN	G	1282;1320;1282	ENSP00000349892:D1282G;ENSP00000384288:D1320G;ENSP00000444596:D1282G	ENSP00000349892:D1282G	D	-	2	0	MYCBP2	76663926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.234000	0.73211	0.533000	0.62120	GAT		0.408	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		44	24	0	0	0	1	0	44	24				
SKIV2L	6499	broad.mit.edu	37	6	31931238	31931238	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:31931238C>T	ENST00000375394.2	+	14	1565	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	SKIV2L_ENST00000544581.1_Silent_p.P291P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	484					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TAACCCGCCCCGTGCCCCTGG	0.567																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1450-1452)ccC>ccT		superkiller viralicidic activity 2-like (S. cerevisiae)							64.0	66.0	65.0					6																	31931238		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31931238C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1452C>T	6.37:g.31931238C>T						SKIV2L_ENST00000544581.1_Silent_p.P291P	p.P484P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			14	1565	+			484					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1452C>T	CCDS4731.1																																																																																				0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			30	31	0	0	0	1	0	30	31				
FSCN1	6624	broad.mit.edu	37	7	5644943	5644943	+	Silent	SNP	G	G	A	rs564738398		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:5644943G>A	ENST00000382361.3	+	5	1434	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	FSCN1_ENST00000340250.6_Silent_p.A419A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	440				A -> V (in Ref. 8; AAH06304). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTGACTCCGCGGTCACCAGCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16173	0.0		0.0	False		,,,				2504	0.0					ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1318-1320)gcG>gcA		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							64.0	62.0	63.0					7																	5644943		2203	4298	6501	SO:0001819	synonymous_variant	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5644943G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1320G>A	7.37:g.5644943G>A						FSCN1_ENST00000340250.6_Silent_p.A419A	p.A440A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1434	+		Ovarian(82;0.0694)	440	A -> V (in Ref. 8; AAH06304).				A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	c.1320G>A	CCDS5342.1																																																																																				0.622	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		26	88	0	0	0	1	0	26	88				
NLGN1	22871	broad.mit.edu	37	3	173997435	173997435	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:173997435A>C	ENST00000457714.1	+	6	2073	c.1644A>C	c.(1642-1644)aaA>aaC	p.K548N	NLGN1_ENST00000545397.1_Missense_Mutation_p.K548N|NLGN1_ENST00000361589.4_Missense_Mutation_p.K548N|NLGN1_ENST00000401917.3_Missense_Mutation_p.K588N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	565					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTTTGCTAAAACTGGGTATG	0.313																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1642-1644)aaA>aaC		neuroligin 1							46.0	46.0	46.0					3																	173997435		2186	4259	6445	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997435A>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1644A>C	3.37:g.173997435A>C	ENSP00000392500:p.Lys548Asn					NLGN1_ENST00000401917.3_Missense_Mutation_p.K588N|NLGN1_ENST00000361589.4_Missense_Mutation_p.K548N|NLGN1_ENST00000545397.1_Missense_Mutation_p.K548N	p.K548N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2073	+	Ovarian(172;0.0025)		565					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1644A>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.346075	0.61073	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.89124	0.3505	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	588;548	D2X2H5;Q8N2Q7-2	.;.	N	548;548;548;588	ENSP00000392500:K548N;ENSP00000354541:K548N;ENSP00000441108:K548N;ENSP00000385750:K588N	ENSP00000354541:K548N	K	+	3	2	NLGN1	175480129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.708000	0.54845	2.371000	0.80710	0.533000	0.62120	AAA		0.313	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		12	96	0	0	0	1	0	12	96				
CDKN2A	1029	broad.mit.edu	37	9	21971107	21971107	+	Missense_Mutation	SNP	T	T	C	rs587782792		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:21971107T>C	ENST00000304494.5	-	2	521	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CDKN2A_ENST00000530628.2_Silent_p.R98R|CDKN2A_ENST00000579755.1_Silent_p.R98R|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822). {ECO:0000269|PubMed:10874641}.		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.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(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)		CCGGGCAGCGTCGTGCACGGG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1379	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(8)|Deletion - Frameshift(5)|Deletion - In frame(4)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.0?(1315)|p.?(44)|p.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(154)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(53)|pleura(51)|upper_aerodigestive_tract(51)|ovary(37)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|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	GRCh37	CM014696	CDKN2A	M		c.(250-252)gAc>gGc		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971107		2178	4258	6436	SO:0001583	missense	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.chr9:21971107T>C	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.251A>G	9.37:g.21971107T>C	ENSP00000307101:p.Asp84Gly	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000530628.2_Silent_p.R98R|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.R98R	p.D84G	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	521	-		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)	84		D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.251A>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	33	5.220496	0.95139	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93953	-3.32;-3.32	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.95971	0.8688	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.94771	0.7945	8	0.26408	T	0.33	-18.6892	15.3697	0.74554	0.0:0.0:0.0:1.0	.	84	P42771	CD2A1_HUMAN	G	84	ENSP00000307101:D84G;ENSP00000394932:D84G	ENSP00000307101:D84G	D	-	2	0	CDKN2A	21961107	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.072000	0.76777	2.265000	0.75225	0.533000	0.62120	GAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	12	0	0	0	1	0	6	12				
NOL11	25926	broad.mit.edu	37	17	65717547	65717547	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65717547G>A	ENST00000253247.4	+	4	481	c.366G>A	c.(364-366)gtG>gtA	p.V122V	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	122					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCCTTGGTGCTCTTCAAGG	0.373																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(364-366)gtG>gtA		nucleolar protein 11							109.0	109.0	109.0					17																	65717547		2203	4300	6503	SO:0001819	synonymous_variant	25926					nucleolus		g.chr17:65717547G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.366G>A	17.37:g.65717547G>A						NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	p.V122V	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	481	+	all_cancers(12;1.54e-10)		122					B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	c.366G>A	CCDS11671.1																																																																																				0.373	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		28	139	0	0	0	1	0	28	139				
ERMARD	55780	broad.mit.edu	37	6	170162599	170162599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:170162599G>A	ENST00000366773.3	+	9	965	c.932G>A	c.(931-933)aGa>aAa	p.R311K	ERMARD_ENST00000588451.1_Missense_Mutation_p.R185K|ERMARD_ENST00000418781.3_Missense_Mutation_p.R311K|ERMARD_ENST00000366772.2_Missense_Mutation_p.R311K|ERMARD_ENST00000392095.4_Missense_Mutation_p.R185K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	311					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACACTTAACAGATGTCCAAAA	0.373																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(553-555)aGa>aAa									142.0	135.0	137.0					6																	170162599		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170162599G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.932G>A	6.37:g.170162599G>A	ENSP00000355735:p.Arg311Lys					C6orf70_ENST00000418781.3_Missense_Mutation_p.R311K|C6orf70_ENST00000366773.3_Missense_Mutation_p.R311K|C6orf70_ENST00000392095.4_Missense_Mutation_p.R185K|C6orf70_ENST00000366772.2_Missense_Mutation_p.R311K	p.R185K			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	9	1067	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	311					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.554G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985400	0.00443	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.38401	1.14;1.14	5.09	0.113	0.14631	.	0.848706	0.10122	N	0.713313	T	0.02083	0.0065	N	0.00563	-1.375	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.47275	-0.9130	10	0.02654	T	1	.	8.6898	0.34260	0.7025:0.0:0.2975:0.0	.	311;311;311	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	311;311;311;185	ENSP00000355735:R311K;ENSP00000375945:R185K	ENSP00000355734:R311K	R	+	2	0	C6orf70	169904524	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.030000	0.12308	-0.210000	0.10140	-0.258000	0.10820	AGA		0.373	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		55	45	0	0	0	1	0	55	45				
OR2M5	127059	broad.mit.edu	37	1	248308924	248308924	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248308924G>C	ENST00000366476.1	+	1	475	c.475G>C	c.(475-477)Gat>Cat	p.D159H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGCAATCATTGATGCTGTAGC	0.468																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(475-477)Gat>Cat		olfactory receptor, family 2, subfamily M, member 5							278.0	263.0	268.0					1																	248308924		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308924G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.475G>C	1.37:g.248308924G>C	ENSP00000355432:p.Asp159His						p.D159H	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	475	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		159						Missense_Mutation	SNP	ENST00000366476.1	37	c.475G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	4.453	0.083914	0.08583	.	.	ENSG00000162727	ENST00000366476	T	0.00017	9.1	3.28	-0.462	0.12168	GPCR, rhodopsin-like superfamily (1);	0.549085	0.13706	U	0.368468	T	0.00073	0.0002	N	0.00754	-1.215	0.09310	N	1	P	0.48407	0.91	P	0.55455	0.776	T	0.44329	-0.9335	10	0.13470	T	0.59	.	5.9429	0.19203	0.221:0.4727:0.3063:0.0	.	159	A3KFT3	OR2M5_HUMAN	H	159	ENSP00000355432:D159H	ENSP00000355432:D159H	D	+	1	0	OR2M5	246375547	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-2.038000	0.01419	0.032000	0.15435	-0.326000	0.08463	GAT		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		57	213	0	0	0	1	0	57	213				
OR1L4	254973	broad.mit.edu	37	9	125487200	125487200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:125487200C>G	ENST00000259466.1	+	1	932	c.932C>G	c.(931-933)tCa>tGa	p.S311*		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGAATTTACTCATAGAAAGAA	0.378																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(931-933)tCa>tGa		olfactory receptor, family 1, subfamily L, member 4							32.0	33.0	32.0					9																	125487200		2203	4300	6503	SO:0001587	stop_gained	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125487200C>G		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.932C>G	9.37:g.125487200C>G	ENSP00000259466:p.Ser311*						p.S311*	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	932	+			311					Q6IFN0|Q96R81	Nonsense_Mutation	SNP	ENST00000259466.1	37	c.932C>G	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	14.28	2.487007	0.44249	.	.	ENSG00000136939	ENST00000259466	.	.	.	4.35	0.00855	0.14075	.	2.011660	0.02338	N	0.074564	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9739	0.30143	0.0:0.583:0.0:0.417	.	.	.	.	X	311	.	ENSP00000259466:S311X	S	+	2	0	OR1L4	124527021	0.000000	0.05858	0.005000	0.12908	0.477000	0.33069	0.332000	0.19751	0.124000	0.18369	0.298000	0.19748	TCA		0.378	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			10	8	0	0	0	1	0	10	8				
VWF	7450	broad.mit.edu	37	12	6105333	6105333	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6105333G>A	ENST00000261405.5	-	35	6152	c.5898C>T	c.(5896-5898)ttC>ttT	p.F1966F		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1966	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCAGCTTGAAATTCTGCC	0.537																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5896-5898)ttC>ttT		von Willebrand factor	Antihemophilic Factor(DB00025)						50.0	45.0	47.0					12																	6105333		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6105333G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5898C>T	12.37:g.6105333G>A							p.F1966F	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			35	6152	-			1966			VWFD 4.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5898C>T	CCDS8539.1																																																																																				0.537	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		21	15	0	0	0	1	0	21	15				
ATP12A	479	broad.mit.edu	37	13	25283535	25283535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:25283535G>A	ENST00000381946.3	+	18	2694	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	ATP12A_ENST00000218548.6_Missense_Mutation_p.E849K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	843					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGAGAAAGCTGAAAGTGACAT	0.547																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2545-2547)Gaa>Aaa		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						90.0	83.0	86.0					13																	25283535		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283535G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2527G>A	13.37:g.25283535G>A	ENSP00000371372:p.Glu843Lys					ATP12A_ENST00000381946.3_Missense_Mutation_p.E843K	p.E849K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	18	2878	+		Lung SC(185;0.0225)|Breast(139;0.077)	843					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2545G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487946	0.84854	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96716	-4.1;-4.1	5.92	5.92	0.95590	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.917;0.997	D	0.99497	1.0952	10	0.87932	D	0	.	17.8019	0.88590	0.0:0.0:1.0:0.0	.	849;843	P54707-2;P54707	.;AT12A_HUMAN	K	849;843	ENSP00000218548:E849K;ENSP00000371372:E843K	ENSP00000218548:E849K	E	+	1	0	ATP12A	24181535	1.000000	0.71417	0.977000	0.42913	0.157000	0.22087	9.751000	0.98889	2.795000	0.96236	0.655000	0.94253	GAA		0.547	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		20	29	0	0	0	1	0	20	29				
SMURF2	64750	broad.mit.edu	37	17	62559052	62559052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:62559052T>A	ENST00000262435.9	-	11	1236	c.1049A>T	c.(1048-1050)cAg>cTg	p.Q350L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	350					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TACCACTTGCTGTTGCTGTTG	0.353																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(1048-1050)cAg>cTg		SMAD specific E3 ubiquitin protein ligase 2							107.0	86.0	93.0					17																	62559052		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62559052T>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1049A>T	17.37:g.62559052T>A	ENSP00000262435:p.Gln350Leu					SMURF2_ENST00000578200.1_Intron	p.Q350L	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		11	1236	-	Breast(5;1.32e-14)		350					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1049A>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245905	0.39697	.	.	ENSG00000108854	ENST00000262435	T	0.46819	0.86	5.82	5.82	0.92795	.	0.331114	0.29417	N	0.012219	T	0.34424	0.0897	N	0.22421	0.69	0.43287	D	0.995265	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.44086	T	0.13	.	11.794	0.52088	0.0:0.0:0.1466:0.8534	.	350	Q9HAU4	SMUF2_HUMAN	L	350	ENSP00000262435:Q350L	ENSP00000262435:Q350L	Q	-	2	0	SMURF2	59989514	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.762000	0.47597	2.225000	0.72522	0.528000	0.53228	CAG		0.353	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		15	30	0	0	0	1	0	15	30				
OR10G8	219869	broad.mit.edu	37	11	123900696	123900696	+	Missense_Mutation	SNP	C	C	G	rs575815218	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:123900696C>G	ENST00000431524.1	+	1	400	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCGCTACCTGGCCATCAG	0.562																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(367-369)Ctg>Gtg		olfactory receptor, family 10, subfamily G, member 8							155.0	145.0	149.0					11																	123900696		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900696C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.367C>G	11.37:g.123900696C>G	ENSP00000389072:p.Leu123Val						p.L123V	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	400	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	123					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.367C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.484259	0.01027	.	.	ENSG00000234560	ENST00000431524	T	0.29655	1.56	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	N	0.002468	T	0.10423	0.0255	N	0.05467	-0.045	0.27331	N	0.956785	B	0.31859	0.343	B	0.31191	0.125	T	0.32798	-0.9893	10	0.02654	T	1	.	5.1611	0.15062	0.0:0.6225:0.0:0.3775	.	123	Q8NGN5	O10G8_HUMAN	V	123	ENSP00000389072:L123V	ENSP00000389072:L123V	L	+	1	2	OR10G8	123405906	0.002000	0.14202	1.000000	0.80357	0.903000	0.53119	-0.335000	0.07873	0.593000	0.29745	-0.157000	0.13467	CTG		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		37	96	0	0	0	1	0	37	96				
NOL4	8715	broad.mit.edu	37	18	31538230	31538230	+	Silent	SNP	A	A	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:31538230A>T	ENST00000261592.5	-	7	1506	c.1209T>A	c.(1207-1209)gtT>gtA	p.V403V	NOL4_ENST00000269185.4_Silent_p.V289V|NOL4_ENST00000535475.1_Silent_p.V248V|NOL4_ENST00000535384.1_Silent_p.V118V|NOL4_ENST00000538587.1_Silent_p.V329V|NOL4_ENST00000589544.1_Silent_p.V403V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	403						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTCGGCTTCAACGCCGTCTG	0.473																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1207-1209)gtT>gtA		nucleolar protein 4							172.0	148.0	156.0					18																	31538230		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31538230A>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1209T>A	18.37:g.31538230A>T						NOL4_ENST00000269185.4_Silent_p.V289V|NOL4_ENST00000538587.1_Silent_p.V329V|NOL4_ENST00000535475.1_Silent_p.V248V|NOL4_ENST00000535384.1_Silent_p.V118V|NOL4_ENST00000589544.1_Silent_p.V403V	p.V403V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			7	1506	-			403					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1209T>A	CCDS11907.2																																																																																				0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		11	60	0	0	0	1	0	11	60				
POLR2F	5435	broad.mit.edu	37	22	38352802	38352802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:38352802G>A	ENST00000442738.2	+	2	168	c.43G>A	c.(43-45)Gat>Aat	p.D15N	POLR2F_ENST00000606538.1_Missense_Mutation_p.D15N|POLR2F_ENST00000405557.1_Missense_Mutation_p.D15N|POLR2F_ENST00000407936.1_Missense_Mutation_p.D15N|POLR2F_ENST00000488684.1_Missense_Mutation_p.D15N|POLR2F_ENST00000470701.1_Missense_Mutation_p.D10N|POLR2F_ENST00000460648.1_Missense_Mutation_p.D15N	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	15					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CGACTTTGATGATGTGGAGGA	0.502																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(43-45)Gat>Aat		polymerase (RNA) II (DNA directed) polypeptide F							176.0	153.0	161.0					22																	38352802		2203	4300	6503	SO:0001583	missense	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38352802G>A		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.43G>A	22.37:g.38352802G>A	ENSP00000403852:p.Asp15Asn					POLR2F_ENST00000606538.1_Missense_Mutation_p.D15N|POLR2F_ENST00000470701.1_Missense_Mutation_p.D10N|POLR2F_ENST00000460648.1_Missense_Mutation_p.D15N|POLR2F_ENST00000488684.1_Missense_Mutation_p.D15N|POLR2F_ENST00000407936.1_Missense_Mutation_p.D15N|POLR2F_ENST00000405557.1_Missense_Mutation_p.D15N|POLR2F_ENST00000484894.1_3'UTR	p.D15N	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			2	168	+	Melanoma(58;0.045)		15					P41584|Q6IAY3	Missense_Mutation	SNP	ENST00000442738.2	37	c.43G>A	CCDS13963.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945985	0.73672	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	5.33	5.33	0.75918	RNA polymerase subunit, RPB6/omega (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.65498	2.005	0.80722	D	1	P	0.42203	0.773	D	0.68353	0.957	T	0.77991	-0.2379	9	0.35671	T	0.21	.	19.4007	0.94629	0.0:0.0:1.0:0.0	.	15	P61218	RPAB2_HUMAN	N	15	.	ENSP00000384112:D15N	D	+	1	0	POLR2F	36682748	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	6.330000	0.72925	2.650000	0.89964	0.655000	0.94253	GAT		0.502	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		11	60	0	0	0	1	0	11	60				
KIF4B	285643	broad.mit.edu	37	5	154396480	154396480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396480A>G	ENST00000435029.4	+	1	3221	c.3061A>G	c.(3061-3063)Atc>Gtc	p.I1021V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTGAATATATCCCACCTAA	0.403																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3061-3063)Atc>Gtc		kinesin family member 4B							133.0	138.0	136.0					5																	154396480		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396480A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3061A>G	5.37:g.154396480A>G	ENSP00000387875:p.Ile1021Val						p.I1021V	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3221	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1021			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3061A>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	A	0.565	-0.843699	0.02671	.	.	ENSG00000226650	ENST00000435029	T	0.66815	-0.23	1.77	1.77	0.24775	.	.	.	.	.	T	0.47544	0.1451	L	0.43152	1.355	0.34698	D	0.726485	B	0.02656	0.0	B	0.04013	0.001	T	0.40117	-0.9580	9	0.07325	T	0.83	.	3.5305	0.07774	0.7914:0.0:0.2086:0.0	.	1021	Q2VIQ3	KIF4B_HUMAN	V	1021	ENSP00000387875:I1021V	ENSP00000387875:I1021V	I	+	1	0	KIF4B	154376673	0.996000	0.38824	0.998000	0.56505	0.991000	0.79684	0.535000	0.23114	1.060000	0.40578	0.460000	0.39030	ATC		0.403	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			36	122	0	0	0	1	0	36	122				
HAUS4	54930	broad.mit.edu	37	14	23415864	23415864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23415864C>A	ENST00000206474.7	-	10	1214	c.962G>T	c.(961-963)aGa>aTa	p.R321I	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000347758.2_Missense_Mutation_p.R195I|HAUS4_ENST00000555986.1_Missense_Mutation_p.R276I|HAUS4_ENST00000490506.1_Missense_Mutation_p.R197I|HAUS4_ENST00000541587.1_Missense_Mutation_p.R321I|HAUS4_ENST00000397409.4_Missense_Mutation_p.R195I|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.R276I|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.K150N|HAUS4_ENST00000555367.1_Missense_Mutation_p.R276I			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	321					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGACCTGTCTTGAGTTCTC	0.552																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(961-963)aGa>aTa		HAUS augmin-like complex, subunit 4							81.0	68.0	72.0					14																	23415864		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23415864C>A	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.962G>T	14.37:g.23415864C>A	ENSP00000206474:p.Arg321Ile					HAUS4_ENST00000490506.1_Missense_Mutation_p.R197I|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Missense_Mutation_p.R276I|HAUS4_ENST00000347758.2_Missense_Mutation_p.R195I|HAUS4_ENST00000541587.1_Missense_Mutation_p.R321I|HAUS4_ENST00000397409.4_Missense_Mutation_p.R195I|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.R276I|HAUS4_ENST00000342454.8_Missense_Mutation_p.R276I|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.K150N|HAUS4_ENST00000554446.1_5'UTR	p.R321I			Q9H6D7	HAUS4_HUMAN			10	1214	-			321					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.962G>T	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976870	0.74360	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555074	.	.	.	5.8	0.908	0.19326	.	0.314175	0.35291	N	0.003315	T	0.57213	0.2038	L	0.54323	1.7	0.41177	D	0.986204	P;P;P	0.45212	0.853;0.801;0.853	P;P;P	0.49332	0.549;0.607;0.549	T	0.56613	-0.7950	9	0.87932	D	0	-1.1671	8.8902	0.35429	0.0:0.6287:0.0:0.3713	.	276;195;321	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	I	321;197;321;276;195;195;276;276;98	.	ENSP00000206474:R321I	R	-	2	0	RP11-298I3.5;HAUS4	22485704	0.002000	0.14202	0.736000	0.30914	0.966000	0.64601	-0.106000	0.10890	-0.091000	0.12440	0.585000	0.79938	AGA		0.552	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			16	51	1	0	1.3612e-06	1	1.42084e-06	16	51				
PNKP	11284	broad.mit.edu	37	19	50368399	50368399	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000600573.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(481-483)gtG>gtA	Other BER factors	polynucleotide kinase 3'-phosphatase							25.0	25.0	25.0					19																	50368399		2203	4300	6503	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50368399C>T	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.483G>A	19.37:g.50368399C>T						PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000600573.1_Silent_p.V161V	p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	4	592	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	161					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.483G>A	CCDS12783.1																																																																																				0.582	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		14	31	0	0	0	1	0	14	31				
HIST3H3	8290	broad.mit.edu	37	1	228612919	228612919	+	Silent	SNP	C	C	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228612919C>A	ENST00000366696.1	-	1	107	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	36					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GCGGCTTCTTCACGCCGCCAG	0.667																																						ENST00000366696.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(106-108)gtG>gtT		histone cluster 3, H3							40.0	47.0	44.0					1																	228612919		2201	4297	6498	SO:0001819	synonymous_variant	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612919C>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.108G>T	1.37:g.228612919C>A							p.V36V	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	107	-		Prostate(94;0.0724)	36					B2R5K3|Q6FGU4	Silent	SNP	ENST00000366696.1	37	c.108G>T	CCDS1572.1																																																																																				0.667	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		34	118	1	0	4.31865e-32	1	4.84502e-32	34	118				
ZNF32	7580	broad.mit.edu	37	10	44139569	44139569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:44139569C>T	ENST00000395797.1	-	3	939	c.751G>A	c.(751-753)Gga>Aga	p.G251R	ZNF32_ENST00000374433.2_Missense_Mutation_p.G251R|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	251					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)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AAGCTTTTTCCACACTGGCCG	0.522																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(751-753)Gga>Aga		zinc finger protein 32							55.0	57.0	56.0					10																	44139569		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139569C>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.751G>A	10.37:g.44139569C>T	ENSP00000379143:p.Gly251Arg					ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G251R	p.G251R	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	939	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	251					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.751G>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737062	0.69304	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.59224	0.28;0.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000151	T	0.66925	0.2839	M	0.72118	2.19	0.53688	D	0.999975	D	0.56968	0.978	P	0.51297	0.665	T	0.71629	-0.4535	10	0.72032	D	0.01	-9.5988	15.8869	0.79258	0.0:1.0:0.0:0.0	.	251	P17041	ZNF32_HUMAN	R	251	ENSP00000363556:G251R;ENSP00000379143:G251R	ENSP00000363556:G251R	G	-	1	0	ZNF32	43459575	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.562000	0.67346	2.876000	0.98609	0.655000	0.94253	GGA		0.522	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		11	88	0	0	0	1	0	11	88				
PAPOLA	10914	broad.mit.edu	37	14	96998720	96998720	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:96998720C>T	ENST00000216277.8	+	8	880	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PAPOLA_ENST00000392990.2_Silent_p.F220F|PAPOLA_ENST00000557320.1_Silent_p.F220F	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	220				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935). {ECO:0000305}.	gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGACAACTTCAGGTTAACTC	0.353																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(658-660)ttC>ttT		poly(A) polymerase alpha							80.0	80.0	80.0					14																	96998720		2203	4300	6503	SO:0001819	synonymous_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96998720C>T	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.660C>T	14.37:g.96998720C>T						PAPOLA_ENST00000557320.1_Silent_p.F220F|PAPOLA_ENST00000392990.2_Silent_p.F220F	p.F220F	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	8	880	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	220	CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).				Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	c.660C>T	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	C	9.164	1.019498	0.19355	.	.	ENSG00000090060	ENST00000553461	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.76550	0.4003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74475	-0.3653	4	.	.	.	.	19.7706	0.96363	0.0:1.0:0.0:0.0	.	.	.	.	L	106	.	.	S	+	2	0	PAPOLA	96068473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	2.697000	0.92050	0.655000	0.94253	TCA		0.353	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			13	73	0	0	0	1	0	13	73				
OR2M5	127059	broad.mit.edu	37	1	248309242	248309242	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309242G>C	ENST00000366476.1	+	1	793	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCCACATCTGATCGCTCCCC	0.517																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(793-795)Gat>Cat		olfactory receptor, family 2, subfamily M, member 5							186.0	167.0	173.0					1																	248309242		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309242G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.793G>C	1.37:g.248309242G>C	ENSP00000355432:p.Asp265His						p.D265H	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	793	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265						Missense_Mutation	SNP	ENST00000366476.1	37	c.793G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467912	0.12402	.	.	ENSG00000162727	ENST00000366476	T	0.00099	8.73	3.28	-6.34	0.01982	GPCR, rhodopsin-like superfamily (1);	2.196060	0.02852	U	0.129260	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.22417	-1.0217	10	0.35671	T	0.21	.	5.5062	0.16856	0.4898:0.2578:0.2523:0.0	.	265	A3KFT3	OR2M5_HUMAN	H	265	ENSP00000355432:D265H	ENSP00000355432:D265H	D	+	1	0	OR2M5	246375865	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.523000	0.00949	-1.334000	0.02244	0.492000	0.49549	GAT		0.517	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		30	102	0	0	0	1	0	30	102				
FLRT3	23767	broad.mit.edu	37	20	14307765	14307765	+	Silent	SNP	G	G	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:14307765G>A	ENST00000378053.3	-	2	644	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L130L|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	130					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCTTCCAGATAGGGAATT	0.388																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(388-390)Ctg>Ttg		fibronectin leucine rich transmembrane protein 3							124.0	129.0	127.0					20																	14307765		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307765G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.388C>T	20.37:g.14307765G>A						MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L130L	p.L130L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	644	-		Colorectal(1;0.0464)	130					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.388C>T	CCDS13121.1																																																																																				0.388	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		18	38	0	0	0	1	0	18	38				
KIF4B	285643	broad.mit.edu	37	5	154396653	154396653	+	Silent	SNP	C	C	T			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396653C>T	ENST00000435029.4	+	1	3394	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1078	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAAATTAGTCAAGGTGTCCA	0.488																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3232-3234)gtC>gtT		kinesin family member 4B							142.0	131.0	135.0					5																	154396653		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396653C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3234C>T	5.37:g.154396653C>T							p.V1078V	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3394	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1078			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3234C>T	CCDS47324.1																																																																																				0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			8	28	0	0	0	1	0	8	28				
HSPA6	3310	broad.mit.edu	37	1	161494725	161494725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:161494725delC	ENST00000309758.4	+	1	690	c.277delC	c.(277-279)cccfs	p.P93fs	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	93					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGCACTGGCCCTTCCGGGT	0.652																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(277-279)ccfs		heat shock 70kDa protein 6 (HSP70B')							50.0	51.0	51.0					1																	161494725		2202	4300	6502	SO:0001589	frameshift_variant	3310				response to unfolded protein		ATP binding	g.chr1:161494725delC		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.277delC	1.37:g.161494725delC	ENSP00000310219:p.Pro93fs						p.P93fs	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	690	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		93					Q1HBA8|Q8IYK7|Q9BT95	Frame_Shift_Del	DEL	ENST00000309758.4	37	c.277delC	CCDS1231.1																																																																																				0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		71	145						71	145	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61009834	61009835	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61009834_61009835delAG	ENST00000238714.3	+	12	1290_1291	c.1041_1042delAG	c.(1039-1044)acagatfs	p.D348fs	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	348					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTGCAGTCACAGATGAAATTCT	0.302																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1039-1044)acatfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61009834_61009835delAG	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1041_1042delAG	2.37:g.61009834_61009835delAG	ENSP00000238714:p.Asp348fs					PAPOLG_ENST00000483370.1_3'UTR	p.TD347fs	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		12	1290_1291	+	all_hematologic(2;0.0797)		347					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Del	DEL	ENST00000238714.3	37	c.1041_1042delAG	CCDS1863.1																																																																																				0.302	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		10	25						10	25	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			3	3						3	3	---	---	---	---
NKD2	85409	broad.mit.edu	37	5	1038447	1038452	+	In_Frame_Del	DEL	CACCAC	CACCAC	-	rs3840989		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:1038447_1038452delCACCAC	ENST00000296849.5	+	10	1544_1549	c.1315_1320delCACCAC	c.(1315-1320)caccacdel	p.HH445del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.PP85del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	445	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccaccacc	0.689																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1320)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038452delCACCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1320delCACCAC	5.37:g.1038453_1038458delCACCAC	ENSP00000296849:p.His445_His446del					NKD2_ENST00000382730.2_In_Frame_Del_p.APP78del|NKD2_ENST00000274150.4_3'UTR	p.HH445del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1549	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		445			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1320delCACCAC	CCDS3859.1																																																																																				0.689	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		4	2						4	2	---	---	---	---
TMEM161B-AS1	100505894	broad.mit.edu	37	5	87678438	87678439	+	RNA	DEL	AT	AT	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:87678438_87678439delAT	ENST00000501715.2	+	0	577				SNORA70_ENST00000384231.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA					TMEM161B antisense RNA 1																		GGGAAAACTAATAGAGTTTCAT	0.366																																						ENST00000501715.2																			0																																																			100505894							g.chr5:87678438_87678439delAT			5q14.3	2014-02-12	2012-08-15		ENSG00000247828	ENSG00000247828		"""Long non-coding RNAs"", ""-"""	43839	non-coding RNA	RNA, long non-coding			"""TMEM161B antisense RNA 1 (non-protein coding)"""			21890647	Standard	NR_039993		Approved	linc-POLR3G-8	uc003kje.3		OTTHUMG00000162704		5.37:g.87678438_87678439delAT						TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000504922.1_RNA								0	577	+									RNA	DEL	ENST00000501715.2	37																																																																																						0.366	TMEM161B-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369984.1	NR_039993		4	7						4	7	---	---	---	---
SRRM3	222183	broad.mit.edu	37	7	75894108	75894119	+	In_Frame_Del	DEL	AAAGAGAAGAAC	AAAGAGAAGAAC	-	rs184677083		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:75894108_75894119delAAAGAGAAGAAC	ENST00000326382.8	+	9	907_918	c.700_711delAAAGAGAAGAAC	c.(700-711)aaagagaagaacdel	p.KEKN234del	SRRM3_ENST00000388802.4_In_Frame_Del_p.KEKN234del	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	234	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GTGCAAAAGAAAAGAGAAGAACAAAGAgaaga	0.557																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(700-711)del		serine/arginine repetitive matrix 3																																				SO:0001651	inframe_deletion	222183							g.chr7:75894108_75894119delAAAGAGAAGAAC	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.700_711delAAAGAGAAGAAC	7.37:g.75894108_75894119delAAAGAGAAGAAC	ENSP00000325298:p.Lys234_Asn237del					SRRM3_ENST00000326382.8_In_Frame_Del_p.KEKN234del	p.KEKN234del							9	909_920	+								A6ND75	In_Frame_Del	DEL	ENST00000326382.8	37	c.700_711delAAAGAGAAGAAC																																																																																					0.557	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		7	67						7	67	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118215233	118215234	+	Splice_Site	INS	-	-	A			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:118215233_118215234insA	ENST00000369230.3	+	5	602_603		c.e5-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATTCTTTCAGAAAAAATTTGA	0.386																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.e5-1		pancreatic lipase-related protein 3																																				SO:0001630	splice_region_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118215233_118215234insA	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.457-1->A	10.37:g.118215239_118215239dupA								NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	5	602_603	+									Splice_Site	INS	ENST00000369230.3	37		CCDS31292.1																																																																																				0.386	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	Intron	19	29						19	29	---	---	---	---
IL18	3606	broad.mit.edu	37	11	112019443	112019443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:112019443delG	ENST00000280357.7	-	5	462	c.243delC	c.(241-243)accfs	p.T81fs	IL18_ENST00000524595.1_Frame_Shift_Del_p.T77fs|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000528832.1_Frame_Shift_Del_p.T81fs|SDHD_ENST00000532699.1_Intron	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	81					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TAATAAATATGGTCCGGGGTG	0.353																																						ENST00000280357.7																			0											c.(241-243)acfs		interleukin 18 (interferon-gamma-inducing factor)							26.0	24.0	25.0					11																	112019443		1772	4034	5806	SO:0001589	frameshift_variant	3606				angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity	g.chr11:112019443delG	U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.243delC	11.37:g.112019443delG	ENSP00000280357:p.Thr81fs					IL18_ENST00000528832.1_Frame_Shift_Del_p.T81fs|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Frame_Shift_Del_p.T77fs	p.T81fs	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)	5	462	-		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	81					O75599|Q6FGY3|Q6WWJ7	Frame_Shift_Del	DEL	ENST00000280357.7	37	c.243delC	CCDS44731.1																																																																																				0.353	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		2	4						2	4	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-	rs372118289		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.640	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		7	115						7	115	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450722	23450723	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23450722_23450723insG	ENST00000262713.2	-	1	1128_1129	c.753_754insC	c.(751-756)cccttgfs	p.PL251fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.PL251fs|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000557615.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	251	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CGTCTCTCCAAGGGCCCCGCCG	0.728																																						ENST00000262713.2																			0											c.(751-756)cctggafs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450722_23450723insG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.754dupC	14.37:g.23450725_23450725dupG	ENSP00000262713:p.Pro251fs					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.G252fs	p.G252fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1128_1129	-			252			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.753_754insC	CCDS9581.1																																																																																				0.728	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			21	7						21	7	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578463	7578464	+	Frame_Shift_Ins	INS	-	-	GGGT	rs563378859|rs371524413		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578463_7578464insGGGT	ENST00000269305.4	-	5	655_656	c.466_467insACCC	c.(466-468)cgcfs	p.R156fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R156fs	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	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.R156fs*14(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GGCGCGGACGCGGGTGCCGGGC	0.614		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		96	Substitution - Missense(45)|Deletion - Frameshift(25)|Deletion - In frame(11)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.R156P(24)|p.R156fs*14(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)	breast(13)|ovary(10)|upper_aerodigestive_tract(9)|lung(9)|large_intestine(7)|stomach(7)|skin(7)|central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|bone(5)|urinary_tract(4)|oesophagus(4)|kidney(2)|liver(2)|pancreas(2)|soft_tissue(1)|genital_tract(1)|biliary_tract(1)|prostate(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	CM984589	TP53	M		c.(466-468)cgtfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578463_7578464insGGGT	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.463_466dupACCC	17.37:g.7578464_7578467dupGGGT	ENSP00000269305:p.Arg156fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R156fs	p.R156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	598_599	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.466_467insACCC	CCDS11118.1																																																																																				0.614	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	78						11	78	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096680	41096681	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41096680_41096681delTG	ENST00000291842.5	+	17	1862_1863	c.1813_1814delTG	c.(1813-1815)tgtfs	p.C605fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.C580fs|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	605					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGAACACTGTGAGCTGGCC	0.668																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1813-1815)tfs		SH3KBP1 binding protein 1																																				SO:0001589	frameshift_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096680_41096681delTG	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1813_1814delTG	19.37:g.41096682_41096683delTG	ENSP00000291842:p.Cys605fs					SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.C580fs	p.C605fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1862_1863	+			605					Q8N2I6|Q8WY93|Q96IB8	Frame_Shift_Del	DEL	ENST00000291842.5	37	c.1813_1814delTG	CCDS12560.1																																																																																				0.668	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		83	147						83	147	---	---	---	---
LINC01272	100506115	broad.mit.edu	37	20	48886549	48886549	+	lincRNA	DEL	C	C	-			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:48886549delC	ENST00000425497.1	+	0	178																											GCAGTGACCTCCCTCCTCCTG	0.607																																						ENST00000425497.1																			0																																																			100506115							g.chr20:48886549delC																													20.37:g.48886549delC														0	178	+									RNA	DEL	ENST00000425497.1	37																																																																																						0.607	RP11-290F20.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079681.1			2	4						2	4	---	---	---	---
