#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
C14orf159	80017	broad.mit.edu	37	14	91639743	91639743	+	Silent	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr14:91639743C>T	ENST00000523771.1	+	6	1155	c.552C>T	c.(550-552)ctC>ctT	p.L184L	C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000520328.1_Silent_p.L184L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000518868.1_Silent_p.L189L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000521077.2_Silent_p.L189L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	184						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCTGCTCCCTCGGAGGTGAGC	0.612											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(565-567)ctC>ctT		chromosome 14 open reading frame 159							49.0	42.0	44.0					14																	91639743		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91639743C>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.552C>T	14.37:g.91639743C>T			OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000523771.1_Silent_p.L184L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000521077.2_Silent_p.L189L|C14orf159_ENST00000520328.1_Silent_p.L184L	p.L189L			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1257	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	184					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.567C>T	CCDS32141.1																																																																																				0.612	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		11	21	0	0	0	1	0	11	21				
BMS1P20	96610	broad.mit.edu	37	22	22657646	22657646	+	RNA	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr22:22657646C>T	ENST00000426066.1	+	0	58					NR_027293.1				BMS1 pseudogene 20																		AAGGGAAAATCGGGCCCCGAT	0.507																																						ENST00000426066.1																			0																																																			96610							g.chr22:22657646C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22657646C>T								NR_027293.1						0	58	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.507	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	22	0	0	0	1	0	4	22				
MGAM	8972	broad.mit.edu	37	7	141730215	141730215	+	Silent	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr7:141730215T>C	ENST00000549489.2	+	11	1370	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	MGAM_ENST00000475668.2_Silent_p.Y425Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	425	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTCACTTATGATTCAGTGG	0.383																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1273-1275)taT>taC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						114.0	100.0	104.0					7																	141730215		1852	4101	5953	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141730215T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1275T>C	7.37:g.141730215T>C						MGAM_ENST00000549489.2_Silent_p.Y425Y	p.Y425Y			O43451	MGA_HUMAN			11	1329	+	Melanoma(164;0.0272)		425			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.1275T>C	CCDS47727.1																																																																																				0.383	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			18	17	0	0	0	1	0	18	17				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		21	28	0	0	0	1	0	21	28				
EYA3	2140	broad.mit.edu	37	1	28320051	28320051	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr1:28320051T>A	ENST00000373871.3	-	14	1403	c.1163A>T	c.(1162-1164)gAt>gTt	p.D388V	EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V|EYA3_ENST00000373863.3_Missense_Mutation_p.D342V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	388				D -> N (in Ref. 1; CAA71311). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACTGAAACCATCTGTTGAGAA	0.428																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1162-1164)gAt>gTt		eyes absent homolog 3 (Drosophila)							70.0	66.0	68.0					1																	28320051		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28320051T>A	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1163A>T	1.37:g.28320051T>A	ENSP00000362978:p.Asp388Val					EYA3_ENST00000373863.3_Missense_Mutation_p.D342V|EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V	p.D388V			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	14	1403	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	388	D -> N (in Ref. 1; CAA71311).				A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.1163A>T	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640166	0.87760	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.94138	-1.58;-1.58;-1.58;-3.32;-3.36;-3.26	5.78	5.78	0.91487	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.96928	0.9679	10	0.87932	D	0	-16.6893	16.1041	0.81209	0.0:0.0:0.0:1.0	.	342;342;388	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	388;262;231;342;335;342	ENSP00000362978:D388V;ENSP00000405587:D262V;ENSP00000362971:D231V;ENSP00000442558:D342V;ENSP00000442280:D335V;ENSP00000362970:D342V	ENSP00000362970:D342V	D	-	2	0	EYA3	28192638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	2.216000	0.71823	0.454000	0.30748	GAT		0.428	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		24	22	0	0	0	1	0	24	22				
BZW1	9689	broad.mit.edu	37	2	201686894	201686894	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr2:201686894G>T	ENST00000409600.1	+	12	1708	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	RP11-469M7.1_ENST00000568571.1_lincRNA|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V|BZW1_ENST00000409226.1_Missense_Mutation_p.G422V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCTGAAGAAGGTGACTGAATT	0.373																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(1252-1254)gGt>gTt		basic leucine zipper and W2 domains 1							85.0	75.0	78.0					2																	201686894		1829	4079	5908	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201686894G>T	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1253G>T	2.37:g.201686894G>T	ENSP00000386474:p.Gly418Val					BZW1_ENST00000409226.1_Missense_Mutation_p.G422V|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V	p.G418V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			12	1708	+			418					B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.1253G>T	CCDS56156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351933|3.351933	0.61183|0.61183	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790|ENST00000359893	T;T;T|.	0.78126|.	-1.1;-1.11;-1.15|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.245554|.	0.41605|.	D|.	0.000847|.	T|T	0.54806|0.54806	0.1881|0.1881	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;D|.	0.76494|.	0.32;0.999|.	B;D|.	0.71184|.	0.14;0.972|.	T|T	0.49698|0.49698	-0.8912|-0.8912	10|5	0.87932|.	D|.	0|.	-1.2981|-1.2981	18.3529|18.3529	0.90344|0.90344	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	450;418|.	B4DLZ8;Q7L1Q6|.	.;BZW1_HUMAN|.	V|L	418;422;450|134	ENSP00000386474:G418V;ENSP00000386837:G422V;ENSP00000394316:G450V|.	ENSP00000386837:G422V|.	G|V	+|+	2|1	0|0	BZW1|BZW1	201395139|201395139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	5.759000|5.759000	0.68785|0.68785	2.639000|2.639000	0.89480|0.89480	0.460000|0.460000	0.39030|0.39030	GGT|GTG		0.373	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		4	18	1	0	1.23904e-05	1	1.27081e-05	4	18				
ANK3	288	broad.mit.edu	37	10	61829127	61829127	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:61829127G>A	ENST00000280772.2	-	37	11703	c.11512C>T	c.(11512-11514)Cac>Tac	p.H3838Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3838					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						CTTACACAGTGTCCTTGTAGT	0.398																																						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.(11512-11514)Cac>Tac		ankyrin 3, node of Ranvier (ankyrin G)							261.0	259.0	259.0					10																	61829127		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829127G>A	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.11512C>T	10.37:g.61829127G>A	ENSP00000280772:p.His3838Tyr					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.H3838Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11703	-			3838					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11512C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224436	0.22457	.	.	ENSG00000151150	ENST00000280772	T	0.41400	1.0	5.07	5.07	0.68467	.	0.159293	0.29403	N	0.012246	T	0.30135	0.0755	N	0.19112	0.55	0.80722	D	1	B	0.32573	0.376	B	0.21917	0.037	T	0.16394	-1.0404	10	0.56958	D	0.05	.	18.8003	0.92013	0.0:0.0:1.0:0.0	.	3838	Q12955	ANK3_HUMAN	Y	3838	ENSP00000280772:H3838Y	ENSP00000280772:H3838Y	H	-	1	0	ANK3	61499133	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	4.947000	0.63583	2.511000	0.84671	0.650000	0.86243	CAC		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		55	138	0	0	0	1	0	55	138				
ZNF148	7707	broad.mit.edu	37	3	125032328	125032328	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr3:125032328G>A	ENST00000360647.4	-	4	642	c.157C>T	c.(157-159)Cct>Tct	p.P53S	ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	53					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCCTGGTGAGGCATACTTCGA	0.453																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(157-159)Cct>Tct		zinc finger protein 148							279.0	240.0	253.0					3																	125032328		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:125032328G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.157C>T	3.37:g.125032328G>A	ENSP00000353863:p.Pro53Ser					ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S|ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	p.P53S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			4	642	-			53					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.157C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323898	0.24080	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763;ENST00000495019	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.0	5.0	0.66597	.	0.246709	0.40064	N	0.001200	T	0.07007	0.0178	N	0.14661	0.345	0.80722	D	1	B	0.18741	0.03	B	0.23018	0.043	T	0.30268	-0.9984	10	0.62326	D	0.03	-13.2603	15.5613	0.76249	0.0:0.2033:0.7967:0.0	.	53	Q9UQR1	ZN148_HUMAN	S	53	ENSP00000353863:P53S;ENSP00000420335:P53S;ENSP00000419322:P53S;ENSP00000420448:P53S	ENSP00000353863:P53S	P	-	1	0	ZNF148	126515018	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.714000	0.54889	2.582000	0.87167	0.650000	0.86243	CCT		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		4	76	0	0	0	1	0	4	76				
TMEM98	26022	broad.mit.edu	37	17	31260234	31260234	+	Silent	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr17:31260234G>A	ENST00000579849.1	+	4	605	c.174G>A	c.(172-174)gaG>gaA	p.E58E	TMEM98_ENST00000578289.1_Silent_p.E58E|TMEM98_ENST00000394642.3_Silent_p.E58E	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	58						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCCAGTCTGAGCCCTCTGAGT	0.532																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(172-174)gaG>gaA		transmembrane protein 98							131.0	115.0	120.0					17																	31260234		2203	4300	6503	SO:0001819	synonymous_variant	26022					endoplasmic reticulum|integral to membrane		g.chr17:31260234G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.174G>A	17.37:g.31260234G>A						TMEM98_ENST00000394642.3_Silent_p.E58E|TMEM98_ENST00000578289.1_Silent_p.E58E	p.E58E	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		4	605	+		Ovarian(249;0.182)|Breast(31;0.244)	58					E1P631|Q9UFK2	Silent	SNP	ENST00000579849.1	37	c.174G>A	CCDS11274.1																																																																																				0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		17	33	0	0	0	1	0	17	33				
HSPA1L	3305	broad.mit.edu	37	6	31779452	31779452	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:31779452C>T	ENST00000375654.4	-	2	487	c.298G>A	c.(298-300)Gga>Aga	p.G100R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	100					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCTTGCCTCCTTCATTAATC	0.413																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(298-300)Gga>Aga		heat shock 70kDa protein 1-like							112.0	112.0	112.0					6																	31779452		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779452C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.298G>A	6.37:g.31779452C>T	ENSP00000364805:p.Gly100Arg					HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R	p.G100R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	487	-			100					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.298G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450430	0.43531	.	.	ENSG00000204390	ENST00000375654;ENST00000417199	T;T	0.03982	3.74;3.74	4.36	4.36	0.52297	.	.	.	.	.	T	0.04048	0.0113	M	0.69463	2.115	0.54753	D	0.999984	B	0.11235	0.004	B	0.16289	0.015	T	0.08351	-1.0726	9	0.87932	D	0	.	14.4415	0.67321	0.0:1.0:0.0:0.0	.	100	P34931	HS71L_HUMAN	R	100	ENSP00000364805:G100R;ENSP00000387691:G100R	ENSP00000364805:G100R	G	-	1	0	HSPA1L	31887431	0.004000	0.15560	0.981000	0.43875	0.932000	0.56968	2.103000	0.41806	2.239000	0.73571	0.460000	0.39030	GGA		0.413	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	121	0	0	0	1	0	4	121				
TFAP2D	83741	broad.mit.edu	37	6	50683256	50683256	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:50683256T>A	ENST00000008391.3	+	2	695	c.467T>A	c.(466-468)aTg>aAg	p.M156K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGTATGGAATGCACCCAGAT	0.617																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(466-468)aTg>aAg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							59.0	65.0	63.0					6																	50683256		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683256T>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.467T>A	6.37:g.50683256T>A	ENSP00000008391:p.Met156Lys						p.M156K	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	695	+	Lung NSC(77;0.0334)		156						Missense_Mutation	SNP	ENST00000008391.3	37	c.467T>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795143	0.70452	.	.	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.06	5.06	0.68205	.	0.091627	0.64402	D	0.000001	D	0.88340	0.6410	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	D	0.85012	0.0906	10	0.39692	T	0.17	-14.3432	15.1213	0.72443	0.0:0.0:0.0:1.0	.	156	Q7Z6R9	AP2D_HUMAN	K	156	ENSP00000008391:M156K	ENSP00000008391:M156K	M	+	2	0	TFAP2D	50791215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.766000	0.85320	2.031000	0.59945	0.533000	0.62120	ATG		0.617	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		49	53	0	0	0	1	0	49	53				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	29	0	0	0	1	0	5	29				
ANK3	288	broad.mit.edu	37	10	62039370	62039370	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:62039370C>T	ENST00000280772.2	-	2	333	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ANK3_ENST00000373827.2_Missense_Mutation_p.A42T|ANK3_ENST00000503366.1_Missense_Mutation_p.A31T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	48					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						GCTCGAGCTGCTCTTAAGTAA	0.343																																						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.(142-144)Gca>Aca		ankyrin 3, node of Ranvier (ankyrin G)							106.0	115.0	112.0					10																	62039370		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62039370C>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.142G>A	10.37:g.62039370C>T	ENSP00000280772:p.Ala48Thr					ANK3_ENST00000373827.2_Missense_Mutation_p.A42T|ANK3_ENST00000503366.1_Missense_Mutation_p.A31T	p.A48T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			2	333	-			48					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.142G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493426	0.96339	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000503925	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.22	5.22	0.72569	Ankyrin repeat-containing domain (3);	0.000000	0.41938	D	0.000798	D	0.92120	0.7502	M	0.91972	3.26	0.80722	D	1	P;D;D	0.89917	0.912;0.994;1.0	P;D;D	0.91635	0.507;0.973;0.999	D	0.93455	0.6805	10	0.87932	D	0	.	18.974	0.92728	0.0:1.0:0.0:0.0	.	31;42;48	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	48;42;31;10;31;22	ENSP00000280772:A48T;ENSP00000362933:A42T;ENSP00000425236:A31T;ENSP00000426011:A22T	ENSP00000280772:A48T	A	-	1	0	ANK3	61709376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.834000	0.69361	2.713000	0.92767	0.655000	0.94253	GCA		0.343	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		37	71	0	0	0	1	0	37	71				
USP17L2	377630	broad.mit.edu	37	8	11995945	11995945	+	Silent	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:11995945G>A	ENST00000333796.3	-	1	641	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	109	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCCCGGGACAGCATGTAGTTG	0.567																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(325-327)Ctg>Ttg		ubiquitin specific peptidase 17-like family member 2							24.0	27.0	26.0					8																	11995945		1192	2523	3715	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995945G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.325C>T	8.37:g.11995945G>A						FAM66D_ENST00000434078.2_RNA	p.L109L	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	641	-			109						Silent	SNP	ENST00000333796.3	37	c.325C>T	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		17	41	0	0	0	1	0	17	41				
STAC3	246329	broad.mit.edu	37	12	57642487	57642487	+	Splice_Site	SNP	A	A	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr12:57642487A>C	ENST00000332782.2	-	4	634		c.e4+1		STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3						intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CAGCCTACTCACGATCTTGCC	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.e4+1		SH3 and cysteine rich domain 3							511.0	458.0	476.0					12																	57642487		2203	4300	6503	SO:0001630	splice_region_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642487A>C	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.432+1T>G	12.37:g.57642487A>C						STAC3_ENST00000554578.1_Splice_Site|STAC3_ENST00000546246.2_Intron		NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	634	-								B4DUK9|Q96HU5	Splice_Site	SNP	ENST00000332782.2	37		CCDS8936.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313399	0.81358	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6487	0.68780	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAC3	55928754	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.725000	0.91468	2.162000	0.67917	0.533000	0.62120	.		0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064	Intron	9	405	0	0	0	1	0	9	405				
IDE	3416	broad.mit.edu	37	10	94223489	94223489	+	Splice_Site	SNP	T	T	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:94223489T>A	ENST00000265986.6	-	21	2816	c.2760A>T	c.(2758-2760)agA>agT	p.R920S	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365S	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	920					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TTACCTTACCTCTGTCAAAAT	0.373																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.e21+1		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	123.0	124.0					10																	94223489		2203	4300	6503	SO:0001630	splice_region_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223489T>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2761+1A>T	10.37:g.94223489T>A						IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365_splice	p.R920_splice	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			21	2816	-			920					B2R721|B7ZAU2|D3DR35|Q5T5N2	Splice_Site	SNP	ENST00000265986.6	37	c.2761_splice	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989708	0.74589	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.37058	1.26;1.22	5.61	5.61	0.85477	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.69320	-0.5176	10	0.37606	T	0.19	-17.3606	16.0994	0.81158	0.0:0.0:0.0:1.0	.	920;365	P14735;B3KSB8	IDE_HUMAN;.	S	920;365	ENSP00000265986:R920S;ENSP00000360637:R365S	ENSP00000265986:R920S	R	-	3	2	IDE	94213469	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.806000	0.62569	2.261000	0.74972	0.533000	0.62120	AGA		0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	Missense_Mutation	9	110	0	0	0	1	0	9	110				
DAB2IP	153090	broad.mit.edu	37	9	124530814	124530814	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:124530814C>T	ENST00000408936.3	+	10	1983	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F|DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	601					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCGAGACCCTCTCCAATAC	0.597																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1801-1803)Ctc>Ttc		DAB2 interacting protein							108.0	102.0	104.0					9																	124530814		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124530814C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1801C>T	9.37:g.124530814C>T	ENSP00000386183:p.Leu601Phe					DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F|DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F	p.L601F			Q5VWQ8	DAB2P_HUMAN			10	1983	+			601					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1801C>T		.	.	.	.	.	.	.	.	.	.	C	17.37	3.373381	0.61624	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.82	-4.47	0.03525	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.278726	0.39759	N	0.001263	T	0.18882	0.0453	L	0.50333	1.59	0.31689	N	0.642167	P;D	0.53745	0.682;0.962	B;P	0.53518	0.204;0.728	T	0.09100	-1.0690	10	0.51188	T	0.08	.	6.7775	0.23628	0.3797:0.4083:0.212:0.0	.	601;573	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	F	573;601;510;477	ENSP00000259371:L573F;ENSP00000386183:L601F;ENSP00000362887:L510F;ENSP00000310827:L477F	ENSP00000259371:L573F	L	+	1	0	DAB2IP	123570635	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	1.663000	0.37429	-1.090000	0.03069	-0.319000	0.08680	CTC		0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		68	33	0	0	0	1	0	68	33				
VSIG4	11326	broad.mit.edu	37	X	65253674	65253674	+	Splice_Site	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chrX:65253674T>C	ENST00000374737.4	-	2	164		c.e2-2		VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000455586.2_Splice_Site	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGACGGCCTGAAGAGGCGG	0.512																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e2-2		V-set and immunoglobulin domain containing 4							66.0	49.0	55.0					X																	65253674		2203	4300	6503	SO:0001630	splice_region_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253674T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.56-2A>G	X.37:g.65253674T>C						VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000374737.4_Splice_Site		NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	182	-								Q6UXI4	Splice_Site	SNP	ENST00000374737.4	37		CCDS14383.1	.	.	.	.	.	.	.	.	.	.	T	0.766	-0.767678	0.02974	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	.	.	.	4.93	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3335	0.32200	0.0:0.0:0.215:0.7849	.	.	.	.	.	-1	.	.	.	-	.	.	VSIG4	65170399	0.503000	0.26115	0.102000	0.21198	0.006000	0.05464	0.684000	0.25364	1.623000	0.50342	0.481000	0.45027	.		0.512	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268	Intron	10	8	0	0	0	1	0	10	8				
RAB6A	5870	broad.mit.edu	37	11	73388973	73388973	+	Silent	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:73388973T>C	ENST00000336083.3	-	8	1052	c.597A>G	c.(595-597)caA>caG	p.Q199Q	RAB6A_ENST00000536566.1_Silent_p.Q166Q|RAB6A_ENST00000310653.6_Silent_p.Q199Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	199					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						CACTGACTGGTTGCTCCTGAG	0.418																																						ENST00000310653.6																			0				large_intestine(2)|lung(2)	4						c.(595-597)caA>caG		RAB6A, member RAS oncogene family							147.0	137.0	140.0					11																	73388973		2200	4293	6493	SO:0001819	synonymous_variant	5870				minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding	g.chr11:73388973T>C	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.597A>G	11.37:g.73388973T>C						RAB6A_ENST00000336083.3_Silent_p.Q199Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q|RAB6A_ENST00000536566.1_Silent_p.Q166Q	p.Q199Q	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN			8	1098	-			199					A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Silent	SNP	ENST00000336083.3	37	c.597A>G	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	T	5.332	0.246567	0.10130	.	.	ENSG00000175582	ENST00000541973	.	.	.	5.69	-4.2	0.03823	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	-0.009	5.653	0.17627	0.2604:0.4463:0.0:0.2933	.	.	.	.	S	192	.	.	N	-	2	0	RAB6A	73066621	0.946000	0.32159	0.909000	0.35828	0.564000	0.35744	0.034000	0.13776	-0.818000	0.04329	-0.344000	0.07964	AAC		0.418	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			4	77	0	0	0	1	0	4	77				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			645752							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	36	0	0	0	1	0	3	36				
GABRR1	2569	broad.mit.edu	37	6	89926980	89926980	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:89926980G>A	ENST00000454853.2	-	1	172	c.62C>T	c.(61-63)gCc>gTc	p.A21V	GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000435811.1_Missense_Mutation_p.A21V	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	21					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCTTTCAGTGGCCAAAACCCA	0.463																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(61-63)gCc>gTc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						90.0	77.0	82.0					6																	89926980		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89926980G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.62C>T	6.37:g.89926980G>A	ENSP00000412673:p.Ala21Val					GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.A21V	p.A21V	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	1	516	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	21					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.62C>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578032	0.45902	.	.	ENSG00000146276	ENST00000454853;ENST00000435811	T;T	0.40225	1.04;1.04	5.75	0.853	0.19001	.	0.752976	0.12053	N	0.503913	T	0.08537	0.0212	N	0.24115	0.695	0.23903	N	0.996517	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37361	-0.9709	9	.	.	.	-1.6306	4.7953	0.13269	0.2048:0.0:0.5362:0.259	.	21;21	P24046-2;P24046	.;GBRR1_HUMAN	V	21	ENSP00000412673:A21V;ENSP00000394687:A21V	.	A	-	2	0	GABRR1	89983699	0.998000	0.40836	0.200000	0.23457	0.991000	0.79684	1.407000	0.34657	-0.133000	0.11537	-0.188000	0.12872	GCC		0.463	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			3	34	0	0	0	1	0	3	34				
VPS37A	137492	broad.mit.edu	37	8	17123483	17123483	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:17123483A>G	ENST00000324849.4	+	2	867	c.193A>G	c.(193-195)Att>Gtt	p.I65V	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	65					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GACAATTAACATTAATATGTG	0.284																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(193-195)Att>Gtt		vacuolar protein sorting 37 homolog A (S. cerevisiae)							95.0	96.0	96.0					8																	17123483		2203	4295	6498	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17123483A>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.193A>G	8.37:g.17123483A>G	ENSP00000318629:p.Ile65Val					VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V	p.I65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	2	867	+			65					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.193A>G	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282261	0.40394	.	.	ENSG00000155975	ENST00000324849;ENST00000324815	T	0.56103	0.48	4.77	4.77	0.60923	Ubiquitin-conjugating enzyme/RWD-like (2);	0.050743	0.85682	D	0.000000	T	0.37705	0.1013	N	0.16656	0.425	0.38679	D	0.952493	B	0.21753	0.06	B	0.12837	0.008	T	0.31336	-0.9947	10	0.42905	T	0.14	-20.1891	14.9938	0.71415	1.0:0.0:0.0:0.0	.	65	Q8NEZ2	VP37A_HUMAN	V	65	ENSP00000318629:I65V	ENSP00000318173:I65V	I	+	1	0	VPS37A	17167854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.084000	0.62774	0.528000	0.53228	ATT		0.284	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		10	72	0	0	0	1	0	10	72				
CLEC18B	497190	broad.mit.edu	37	16	74443772	74443772	+	Missense_Mutation	SNP	C	C	T	rs139908030	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr16:74443772C>T	ENST00000339953.5	-	11	1337	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	406	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGCCACACCAGCCTGTGG	0.627																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1216-1218)Gtg>Atg		C-type lectin domain family 18, member B		C	MET/VAL	7,4387	6.2+/-15.9	0,7,2190	36.0	40.0	39.0		1216	-4.1	0.0	16	dbSNP_134	39	35,8565	13.3+/-46.6	0,35,4265	no	missense	CLEC18B	NM_001011880.2	21	0,42,6455	TT,TC,CC		0.407,0.1593,0.3232	benign	406/456	74443772	42,12952	2197	4300	6497	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443772C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1216G>A	16.37:g.74443772C>T	ENSP00000341051:p.Val406Met						p.V406M	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			11	1337	-			406			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1216G>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	4.478	0.088598	0.08583	0.001593	0.00407	ENSG00000140839	ENST00000339953	T	0.24350	1.86	2.51	-4.06	0.03986	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	B	0.31125	0.309	B	0.32342	0.144	T	0.23154	-1.0196	9	0.56958	D	0.05	.	12.9518	0.58405	0.0:0.2236:0.7764:0.0	.	406	Q6UXF7	CL18B_HUMAN	M	406	ENSP00000341051:V406M	ENSP00000341051:V406M	V	-	1	0	CLEC18B	73001273	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.214000	0.09292	-0.745000	0.04772	-0.690000	0.03725	GTG		0.627	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		4	38	0	0	0	1	0	4	38				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	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	38	0	0	0	1	0	4	38				
MCUR1	63933	broad.mit.edu	37	6	13794127	13794127	+	Splice_Site	SNP	A	A	G			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:13794127A>G	ENST00000379170.4	-	7	1046	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	303					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											GTTTCTTACCAATGCCACTAT	0.373																																						ENST00000379170.4																			0											c.e7+1		mitochondrial calcium uniporter regulator 1							199.0	175.0	183.0					6																	13794127		2202	4299	6501	SO:0001630	splice_region_variant	63933							g.chr6:13794127A>G	BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.909+1T>C	6.37:g.13794127A>G							p.L303_splice	NM_001031713.3	NP_001026883.1					7	1046	-								Q96JS7|Q9H7F8	Splice_Site	SNP	ENST00000379170.4	37	c.909_splice	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568903	0.45798	.	.	ENSG00000050393	ENST00000379170	T	0.36520	1.25	4.94	4.94	0.65067	.	0.495359	0.20954	N	0.082700	T	0.21590	0.0520	M	0.63428	1.95	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.05632	-1.0873	10	0.26408	T	0.33	-0.675	13.925	0.63958	1.0:0.0:0.0:0.0	.	303	Q96AQ8	CC90A_HUMAN	S	303	ENSP00000368468:L303S	ENSP00000368468:L303S	L	-	2	0	CCDC90A	13902106	1.000000	0.71417	0.940000	0.37924	0.976000	0.68499	7.026000	0.76455	1.982000	0.57802	0.529000	0.55759	TTG		0.373	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102	Missense_Mutation	11	31	0	0	0	1	0	11	31				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	284802							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	132	0	0	0	1	0	5	132				
UBXN6	80700	broad.mit.edu	37	19	4446365	4446365	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr19:4446365C>A	ENST00000301281.6	-	9	1090	c.966G>T	c.(964-966)atG>atT	p.M322I	UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I|CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	322						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTTCTCCCGCATGGCCTTGG	0.711																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(964-966)atG>atT		UBX domain protein 6							19.0	17.0	18.0					19																	4446365		2189	4290	6479	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446365C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.966G>T	19.37:g.4446365C>A	ENSP00000301281:p.Met322Ile					UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I	p.M322I	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			9	1090	-			322					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.966G>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628100	0.87560	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.41065	1.01;1.01	5.14	2.91	0.33838	.	0.110450	0.85682	N	0.000000	T	0.68192	0.2974	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.79784	0.993;0.787	T	0.74340	-0.3697	10	0.54805	T	0.06	-46.7968	14.7016	0.69160	0.0:0.7239:0.2761:0.0	.	269;322	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	I	322;269	ENSP00000301281:M322I;ENSP00000378246:M269I	ENSP00000301281:M322I	M	-	3	0	UBXN6	4397365	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	7.245000	0.78237	0.630000	0.30394	0.561000	0.74099	ATG		0.711	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		3	6	1	0	6.4e-05	1	6.4e-05	3	6				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	43	0	0	0	1	0	6	43				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val					HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	39	0	0	0	1	0	3	39				
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC	rs572236007	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:157100396_157100397insCGC	ENST00000350026.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcg>gCGCcg	p.450_451insP	RP11-230C9.2_ENST00000603191.1_lincRNA|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_In_Frame_Ins_p.450_451insP|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000346085.5_In_Frame_Ins_p.450_451insP|ARID1B_ENST00000275248.4_In_Frame_Ins_p.392_393insP	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.		P -> PP. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787														126	0.0251597	0.0068	0.0519	5008	,	,		3321	0.0		0.0676	False		,,,				2504	0.0133					ENST00000346085.5																			1	Insertion - In frame(1)	p.P392_S393insP(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1333-1335)gcc>CGCgcc		AT rich interactive domain 1B (SWI1-like)			,	13,1303		3,7,648					,	2.2	1.0			4	150,3080		29,92,1494	no	coding,coding	ARID1B	NM_020732.3,NM_017519.2	,	32,99,2142	A1A1,A1R,RR		4.644,0.9878,3.5856	,	,		163,4383				SO:0001652	inframe_insertion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100396_157100397insCGC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1346_1348dupCGC	6.37:g.157100403_157100405dupCGC	ENSP00000055163:p.Pro450_Pro450dup					ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR	p.444_445insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1334_1335	+		Breast(66;0.000162)|Ovarian(120;0.0265)	444			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	ENST00000350026.5	37	c.1333_1334insCGC	CCDS5251.2																																																																																				0.787	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	5						4	5	---	---	---	---
TPM2	7169	broad.mit.edu	37	9	35683161	35683161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:35683161delG	ENST00000360958.2	-	9	954	c.850delC	c.(850-852)ctcfs	p.L284fs	TPM2_ENST00000378292.3_Intron|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	284					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCTCAGAGGGAGGTGATG	0.577																																						ENST00000360958.2																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(850-852)tcfs		tropomyosin 2 (beta)							229.0	158.0	182.0					9																	35683161		2192	4267	6459	SO:0001589	frameshift_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35683161delG		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.850delC	9.37:g.35683161delG	ENSP00000354219:p.Leu284fs					TPM2_ENST00000378292.3_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron	p.L284fs	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	954	-	all_epithelial(49;0.121)		284					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Frame_Shift_Del	DEL	ENST00000360958.2	37	c.850delC	CCDS6587.1																																																																																				0.577	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		2	4						2	4	---	---	---	---
