#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
SAP130	79595	broad.mit.edu	37	2	128712656	128712656	+	Frame_Shift_Del	DEL	C	C	-	rs112429524		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:128712656delC	ENST00000259235.3	-	15	2428	c.2299delG	c.(2299-2301)gtgfs	p.V767fs	SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs|SAP130_ENST00000357702.5_Frame_Shift_Del_p.V802fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	767	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTGCCACCCACAGTGACTGAT	0.532																																						ENST00000259235.3	1.000000	0.980000	1.000000	0.990000	0.990000	0.998180	0.990000	1.000000																										0				45						c.(2299-2301)gtgfs		Sin3A-associated protein, 130kDa							159.0	132.0	141.0					2																	128712656		2203	4300	6503	SO:0001589	frameshift_variant	79595	0	0					g.chr2:128712656delC	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2299delG	chr2.hg19:g.128712656delC	ENSP00000259235:p.Val767fs	0					SAP130_ENST00000357702.5_Frame_Shift_Del_p.V802fs|SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs	p.V767fs	NM_024545.3	NP_078821.2	1	2	3	2.048955	Q9H0E3	SP130_HUMAN		15	2428	-	Colorectal(110;0.1)		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Del	DEL	ENST00000259235.3	0	1	hg19	c.2299delG	CCDS2153.1	1																																																																																								0.126337		TCGA-H6-A45N-01A-11D-A26I-08	0.532	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	1		2	2		0	0	0	0	64	0	64	63	1	2.030000	-20.000000	1	0.110000	NM_024545		0	38	40	0	487	479	0	0	1	0	0	0	0	64	0	0	1.000000	4.638714e-01	0	0	0	21	0	38	487
NBEAL1	65065	broad.mit.edu	37	2	204000806	204000807	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:204000806_204000807insTG	ENST00000449802.1	+	27	4466_4467	c.4133_4134insTG	c.(4132-4137)attgacfs	p.D1379fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1379										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGTGGAATTGACTCATGTG	0.436																																						ENST00000449802.1	1.000000	0.720000	1.000000	0.890000	0.990000	0.963028	0.990000	1.000000																										0				37						c.(4132-4137)attgacfs		neurobeachin-like 1																																				SO:0001589	frameshift_variant	65065	0	0					g.chr2:204000806_204000807insTG	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4134_4135dupTG	chr2.hg19:g.204000807_204000808dupTG	ENSP00000399903:p.Asp1379fs	0						p.D1379fs	NM_001114132.1	NP_001107604.1	1	2	3	2.046620	Q6ZS30	NBEL1_HUMAN		27	4466_4467	+			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	0	1	hg19	c.4133_4134insTG	CCDS46495.1	1																																																																																								0.125866		TCGA-H6-A45N-01A-11D-A26I-08	0.436	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1		2	2		0	0	0	0	30	0	30	30	1	2.030000	-20.000000	1	0.110000			0	24	25	0	395	395	0	0	1	0	0	0	0	30	0	0	1.000000	0	0	0	0	1	0	24	395
GAD2	2572	broad.mit.edu	37	10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A	rs376780859		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	447					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.G447R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTACAGTGCGGACGCCACGT	0.433																																						ENST00000376261.3	1.000000	0.390000	0.830000	0.510000	0.660000	0.677059	0.660000	1.000000																										2	Substitution - Missense(2)	p.G447R(2)	prostate(1)|pancreas(1)	48						c.(1339-1341)Gga>Aga		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	129.0	106.0	114.0		1339,1339	5.0	1.0	10		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GAD2	NM_000818.2,NM_001134366.1	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	447/586,447/586	26575376	1,13005	2203	4300	6503	SO:0001583	missense	2572	2	121412	36				g.chr10:26575376G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1339G>A	chr10.hg19:g.26575376G>A	ENSP00000365437:p.Gly447Arg	0					GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	p.G447R	NM_001134366.1	NP_001127838.1	0	1	1	1.981028	Q05329	DCE2_HUMAN		13	1842	+			Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	1	1	hg19	c.1339G>A	CCDS7149.1	0	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704299	0.88924	0.0	1.16E-4	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88340	0.2974	10	0.87932	D	0	-14.4635	18.27	0.90065	0.0:0.0:1.0:0.0	.	447	Q05329	DCE2_HUMAN	R	447	ENSP00000365437:G447R;ENSP00000259271:G447R	ENSP00000259271:G447R	G	+	1	0	0	GAD2	26615382	26615382	1.000000	0.71417	0.955000	0.39395	0.790000	0.44656	9.476000	0.97823	2.306000	0.77630	0.655000	0.94253	GGA	0.101101		TCGA-H6-A45N-01A-11D-A26I-08	0.433	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	0	1	2	2	2	2	0	0	0	0	46	46	46	45	1	2.030000	-2.448738	0	0.110000	NM_000818		0	16	16	0	423	420	0		1	0		0	0	46	0	0	0.999932	2.856059e-02	0	0	0	7	0	16	423
MAT1A	4143	broad.mit.edu	37	10	82036258	82036258	+	Silent	SNP	C	C	T	rs539772339		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	214					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		21287	0.0		0.0	False		,,,				2504	0.001					ENST00000372213.3	0.910000	0.440000	0.790000	0.540000	0.650000	0.670570	0.650000	0.650000																										0				26						c.(640-642)acG>acA		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						170.0	138.0	149.0					10																	82036258		2203	4300	6503	SO:0001819	synonymous_variant	4143	1	121412	33				g.chr10:82036258C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.642G>A	chr10.hg19:g.82036258C>T		0					MAT1A_ENST00000485270.1_5'Flank	p.T214T	NM_000429.2	NP_000420.1	0	1	1	1.988170	Q00266	METK1_HUMAN	Colorectal(32;0.229)	6	902	-			D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	1	1	hg19	c.642G>A	CCDS7365.1	0																																																																																								0.103094		TCGA-H6-A45N-01A-11D-A26I-08	0.587	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	0	0	1	2	20	2	2	1	1	1	1	120	120	120	120	1	2.030000	-3.757071	1	0.110000	NM_000429		0	27	26	0	715	709	0		1	0		1	0	120	0	0	0.874695	0	0	0	0	1	0	27	715
EBF3	253738	broad.mit.edu	37	10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:131665458G>C	ENST00000355311.5	-	10	1058	c.986C>G	c.(985-987)tCc>tGc	p.S329C	EBF3_ENST00000368648.3_Missense_Mutation_p.S320C			Q9H4W6	COE3_HUMAN	early B-cell factor 3	329	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGATTTGTAGGAGAGGGTCAC	0.577																																						ENST00000355311.5	0.910000	0.200000	0.690000	0.320000	0.480000	0.513621	0.480000	0.450000																										0				44						c.(985-987)tCc>tGc		early B-cell factor 3							93.0	81.0	85.0					10																	131665458		2203	4300	6503	SO:0001583	missense	253738	0	0					g.chr10:131665458G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.986C>G	chr10.hg19:g.131665458G>C	ENSP00000347463:p.Ser329Cys	0					EBF3_ENST00000368648.3_Missense_Mutation_p.S320C	p.S329C			0	1	1	1.988170	Q9H4W6	COE3_HUMAN		10	1058	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	0	1	hg19	c.986C>G		0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459324	0.84317	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.64989	-0.6277	10	0.87932	D	0	-19.8393	18.9221	0.92529	0.0:0.0:1.0:0.0	.	320	Q9H4W6-2	.	C	329;320	ENSP00000347463:S329C;ENSP00000357637:S320C	ENSP00000347463:S329C	S	-	2	0	0	EBF3	131555448	131555448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.716000	0.98752	2.632000	0.89209	0.655000	0.94253	TCC	0.103094		TCGA-H6-A45N-01A-11D-A26I-08	0.577	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	0	2	2	2	2	0	0	0	0	37	37	37	37	1	2.030000	-7.391680	1	0.110000	NM_001005463		0	6	6	0	228	227	0		1	0		0	0	37	0	0	0.965084	0	0	0	0	1	0	6	228
TRPC6	7225	broad.mit.edu	37	11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362330T>A	ENST00000344327.3	-	3	1509	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	362					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACGGCTGAGATTTGGGCGACC	0.428																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	0.900000	0.460000	0.790000	0.560000	0.660000	0.679530	0.660000	0.660000																										0				55						c.(1084-1086)aAt>aTt		transient receptor potential cation channel, subfamily C, member 6							134.0	138.0	136.0					11																	101362330		2203	4299	6502	SO:0001583	missense	7225	0	0					g.chr11:101362330T>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1085A>T	chr11.hg19:g.101362330T>A	ENSP00000340913:p.Asn362Ile	0					TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I	p.N362I	NM_004621.5	NP_004612.2	0	1	1	1.986533	Q9Y210	TRPC6_HUMAN		3	1509	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	1	1	hg19	c.1085A>T	CCDS8311.1	0	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786962	0.49997	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.65549	1.41;1.41;-0.16	6.14	5.02	0.67125	6.14	5.02	0.67125	.	0.176574	0.56097	D	0.000023	T	0.62332	0.2419	L	0.50333	1.59	0.35279	D	0.781152	P;P	0.40578	0.677;0.722	P;P	0.50970	0.655;0.534	T	0.72523	-0.4267	10	0.66056	D	0.02	-6.7914	3.5277	0.07765	0.0:0.2969:0.0:0.7031	.	362;362	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	362	ENSP00000340913:N362I;ENSP00000435574:N362I;ENSP00000353687:N362I	ENSP00000340913:N362I	N	-	2	0	0	TRPC6	100867540	100867540	1.000000	0.71417	0.968000	0.41197	0.850000	0.48378	2.065000	0.41442	2.367000	0.80283	0.529000	0.55759	AAT	0.102596		TCGA-H6-A45N-01A-11D-A26I-08	0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	0	0	1	2	2	2	2	0	0	0	0	71	71	71	70	1	2.030000	-20.000000	1	0.110000	NM_004621		0	33	33	0	858	845	0		1	0		0	0	71	0	0	1.000000	0	0	0	0	1	0	33	858
TRPC6	7225	broad.mit.edu	37	11	101362468	101362468	+	Splice_Site	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362468T>A	ENST00000344327.3	-	3	1371	c.947A>T	c.(946-948)aAt>aTt	p.N316I	TRPC6_ENST00000360497.4_Splice_Site_p.N316I|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site_p.N316I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	316					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGTAGTCATTCTAGGAAAA	0.368																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3	1.000000	0.360000	0.860000	0.490000	0.660000	0.679433	0.660000	1.000000																										0				55						c.(946-948)aAt>aTt		transient receptor potential cation channel, subfamily C, member 6							60.0	58.0	59.0					11																	101362468		2203	4299	6502	SO:0001630	splice_region_variant	7225	0	0					g.chr11:101362468T>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.946-1A>T	chr11.hg19:g.101362468T>A		0					TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site_p.N316I|TRPC6_ENST00000532133.1_Splice_Site_p.N316I	p.N316I	NM_004621.5	NP_004612.2	0	1	1	1.986533	Q9Y210	TRPC6_HUMAN		3	1371	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	SNP	ENST00000344327.3	0	1	hg19	c.947A>T	CCDS8311.1	0	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263387	0.80358	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.61980	0.06;0.06;0.06	6.14	6.14	0.99180	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80065	-0.1538	10	0.59425	D	0.04	-11.6271	16.806	0.85666	0.0:0.0:0.0:1.0	.	316;316	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	316	ENSP00000340913:N316I;ENSP00000435574:N316I;ENSP00000353687:N316I	ENSP00000340913:N316I	N	-	2	0	0	TRPC6	100867678	100867678	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.950000	0.87804	2.367000	0.80283	0.529000	0.55759	AAT	0.102596		TCGA-H6-A45N-01A-11D-A26I-08	0.368	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	0	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	2.030000	-13.050570	1	0.110000	NM_004621	Missense_Mutation	0	12	12	0	319	316	0		1			0	0	25	0	0	0.999110	0	0	0	0	0	0	12	319
PPFIBP2	8495	broad.mit.edu	37	11	7618802	7618802	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:7618802C>T	ENST00000299492.4	+	5	772	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PPFIBP2_ENST00000528883.1_Silent_p.L16L|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	128				L -> I (in Ref. 2; AAH21714). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGAGTGTCCTCACAGACCAAG	0.512																																						ENST00000299492.4	1.000000	0.270000	1.000000	0.450000	0.700000	0.710139	0.700000	1.000000																										0				32						c.(382-384)ctC>ctT		PTPRF interacting protein, binding protein 2 (liprin beta 2)							63.0	58.0	60.0					11																	7618802		2201	4296	6497	SO:0001819	synonymous_variant	8495	0	0					g.chr11:7618802C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.384C>T	chr11.hg19:g.7618802C>T		0					PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Silent_p.L16L	p.L128L	NM_003621.3	NP_003612	0	1	1	1.988690	Q8ND30	LIPB2_HUMAN		5	772	+			B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	0	1	hg19	c.384C>T	CCDS31419.1	0	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310160	0.23821	.	.	ENSG00000166387	ENST00000524548	.	.	.	5.5	2.39	0.29439	5.5	2.39	0.29439	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47341	-0.9125	4	.	.	.	-6.6607	5.1479	0.14994	0.1414:0.6167:0.1553:0.0866	.	.	.	.	L	83	.	.	S	+	2	0	0	PPFIBP2	7575378	7575378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.352000	0.34033	1.309000	0.44985	0.655000	0.94253	TCA	0.103094		TCGA-H6-A45N-01A-11D-A26I-08	0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	0	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	2.030000	-7.863672	1	0.110000	NM_003621		0	5	5	0	128	127	0		1	0		0	0	29	0	0	0.937519	8.930749e-02	0	0	0	11	0	5	128
ATL3	25923	broad.mit.edu	37	11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63398868G>C	ENST00000398868.3	-	12	1459	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	395					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAATGGTCCAGAGCAAGTTGT	0.408																																						ENST00000398868.3	0.620000	0.170000	0.490000	0.250000	0.360000	0.380468	0.360000	0.350000																										0				11						c.(1183-1185)Ctg>Gtg		atlastin GTPase 3							116.0	105.0	109.0					11																	63398868		1850	4099	5949	SO:0001583	missense	25923	0	0					g.chr11:63398868G>C		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1183C>G	chr11.hg19:g.63398868G>C	ENSP00000381844:p.Leu395Val	0					ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V	p.L395V	NM_015459.3	NP_056274.3	0	1	1	1.986533	Q6DD88	ATLA3_HUMAN		12	1459	-			Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	0	1	hg19	c.1183C>G	CCDS41663.1	0	.	.	.	.	.	.	.	.	.	.	G	7.325	0.617751	0.14129	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.01821	4.62;4.62;4.62	5.41	2.14	0.27477	5.41	2.14	0.27477	Guanylate-binding protein, C-terminal (3);	0.205916	0.42682	D	0.000665	T	0.01156	0.0038	N	0.16656	0.425	0.44036	D	0.996766	B	0.06786	0.001	B	0.22880	0.042	T	0.54323	-0.8311	10	0.14656	T	0.56	-9.5352	5.3927	0.16253	0.0828:0.1393:0.6348:0.143	.	395	Q6DD88	ATLA3_HUMAN	V	395;422;377	ENSP00000381844:L395V;ENSP00000329034:L422V;ENSP00000437593:L377V	ENSP00000329034:L422V	L	-	1	2	2	ATL3	63155444	63155444	0.006000	0.16342	1.000000	0.80357	0.961000	0.63080	0.057000	0.14279	1.273000	0.44346	0.655000	0.94253	CTG	0.102596		TCGA-H6-A45N-01A-11D-A26I-08	0.408	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	0	0	1	2	2	2	2	0	0	0	0	49	49	49	49	1	2.030000	-3.263015	1	0.110000	NM_015459		0	9	9	0	454	452	0		1	0		0	0	49	0	0	0.994200	9.055777e-02	0	1	0	21	0	9	454
MMP1	4312	broad.mit.edu	37	11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	62					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TTCAATTTTTCAACCACTGGG	0.433																																						ENST00000315274.6	1.000000	0.590000	1.000000	0.720000	0.870000	0.867533	0.870000	1.000000																										0				30						c.(184-186)Gaa>Aaa		matrix metallopeptidase 1 (interstitial collagenase)	Marimastat(DB00786)						117.0	116.0	116.0					11																	102668153		2203	4299	6502	SO:0001583	missense	4312	0	0					g.chr11:102668153C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.184G>A	chr11.hg19:g.102668153C>T	ENSP00000322788:p.Glu62Lys	0					WTAPP1_ENST00000525739.2_RNA	p.E62K	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	0	1	1	1.986533	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	2	251	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	P08156	Missense_Mutation	SNP	ENST00000315274.6	1	1	hg19	c.184G>A	CCDS8322.1	1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387343	0.25031	.	.	ENSG00000196611	ENST00000315274	T	0.38240	1.15	5.77	5.77	0.91146	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.186495	0.38058	N	0.001830	T	0.32615	0.0835	L	0.51853	1.615	0.35886	D	0.829282	B	0.19817	0.039	B	0.25140	0.058	T	0.27434	-1.0074	10	0.26408	T	0.33	.	10.6353	0.45560	0.0:0.7973:0.133:0.0696	.	62	P03956	MMP1_HUMAN	K	62	ENSP00000322788:E62K	ENSP00000322788:E62K	E	-	1	0	0	MMP1	102173363	102173363	0.566000	0.26618	0.796000	0.32109	0.615000	0.37417	1.787000	0.38704	2.884000	0.98904	0.655000	0.94253	GAA	0.102596		TCGA-H6-A45N-01A-11D-A26I-08	0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	1	0	1	2	2	2	2	0	0	0	0	49	49	49	49	1	2.030000	-5.048920	1	0.110000	NM_002421		0	28	28	0	546	540	1		1	1		0	0	49	0	0	1.000000	9.844187e-01	0	30	0	100	0	28	546
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.390000	1.000000	0.650000	0.990000	0.871696	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	1	2	3	2.004033	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.116801		TCGA-H6-A45N-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	2.030000	-4.444013	1	0.110000	NM_033360		998	5	5	7014	92	92	0	1	1	0	1	0	0	10	380	1	0.939226	6.845045e-02	9.999694e-01	0	36	7	601	5	92
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5	1.000000	0.160000	0.500000	0.230000	0.330000	0.405282	0.330000	0.300000																										0				14						c.(370-372)Gag>Aag		2'-5'-oligoadenylate synthetase-like							117.0	102.0	107.0					12																	121471375		2203	4300	6503	SO:0001583	missense	8638	1	121412	33				g.chr12:121471375C>T	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.370G>A	chr12.hg19:g.121471375C>T	ENSP00000257570:p.Glu124Lys	0					OASL_ENST00000339275.5_Missense_Mutation_p.E124K	p.E124K	NM_003733.3	NP_003724.1	1	2	3	2.004033	Q15646	OASL_HUMAN		2	640	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	0	1	hg19	c.370G>A	CCDS9211.1	0	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362354	0.24684	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.10192	2.9;2.9	4.67	-3.47	0.04753	4.67	-3.47	0.04753	.	.	.	.	.	T	0.08714	0.0216	M	0.64404	1.975	0.09310	N	1	B;B	0.24768	0.108;0.111	B;B	0.17433	0.018;0.008	T	0.44236	-0.9341	9	0.12103	T	0.63	0.0893	5.8603	0.18743	0.0:0.1968:0.4434:0.3599	.	124;124	Q15646-2;Q15646	.;OASL_HUMAN	K	124	ENSP00000257570:E124K;ENSP00000341125:E124K	ENSP00000257570:E124K	E	-	1	0	0	OASL	119955758	119955758	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.620000	0.00879	-0.768000	0.04626	-0.291000	0.09656	GAG	0.116801		TCGA-H6-A45N-01A-11D-A26I-08	0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	0	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	2.030000	-2.215800	0	0.110000	NM_003733		0	10	10	0	590	588	0		1	0		0	0	94	0	0	0.996867	1.191242e-01	0	0	0	32	0	10	590
VAC14	55697	broad.mit.edu	37	16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	344					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCTGCCCAGGTCTCAGCTC	0.612																																						ENST00000261776.5	1.000000	0.990000	1.000000	0.990000	0.990000	0.997523	0.990000	1.000000																										0				33						c.(1030-1032)cCt>cTt		Vac14 homolog (S. cerevisiae)							64.0	52.0	56.0					16																	70814758		2198	4300	6498	SO:0001583	missense	55697	0	0					g.chr16:70814758G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1031C>T	chr16.hg19:g.70814758G>A	ENSP00000261776:p.Pro344Leu	0						p.P344L	NM_018052.3	NP_060522.3	1	2	3	2.047018	Q08AM6	VAC14_HUMAN		9	1291	-		Ovarian(137;0.0699)	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	1	1	hg19	c.1031C>T	CCDS10896.1	1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218622	0.39201	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.69	4.74	0.60224	5.69	4.74	0.60224	Armadillo-type fold (1);	0.540041	0.19458	N	0.113776	T	0.41003	0.1140	L	0.40543	1.245	0.31982	N	0.605736	B	0.09022	0.002	B	0.06405	0.002	T	0.44390	-0.9331	9	0.24483	T	0.36	-0.7265	9.2593	0.37603	0.0739:0.0:0.7822:0.1439	.	344	Q08AM6	VAC14_HUMAN	L	344	.	ENSP00000261776:P344L	P	-	2	0	0	VAC14	69372259	69372259	0.968000	0.33430	0.008000	0.14137	0.008000	0.06430	1.662000	0.37418	1.414000	0.47017	0.561000	0.74099	CCT	0.126337		TCGA-H6-A45N-01A-11D-A26I-08	0.612	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1	2	2	2	2	0	0	0	0	26	26	26	25	1	2.030000	-19.999460	1	0.110000	NM_018052		0	17	16	0	182	181	1		1	1		0	0	26	0	0	0.999970	8.769981e-01	0	6	0	36	0	17	182
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:7577094G>C	ENST00000269305.4	-	8	1033	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Ggg	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						83.0	71.0	75.0					17																	7577094		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7577094G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>G	chr17.hg19:g.7577094G>C	ENSP00000269305:p.Arg282Gly	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron	p.R282G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	4	4	2.186706	P04637	P53_HUMAN		8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.844C>G	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743784	0.69418	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.75	1.49	0.22878	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89968	3.075	0.58432	D	0.999997	P;D;P;P	0.89917	0.826;1.0;0.856;0.483	P;D;P;P	0.79108	0.751;0.992;0.839;0.591	D	0.98579	1.0649	10	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	282;282;282;282;282;271;150	ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G	ENSP00000269305:R282G	R	-	1	2	2	TP53	7517819	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	0.198198		TCGA-H6-A45N-01A-11D-A26I-08	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	2.030000	-4.067568	1	0.110000	NM_000546		0	76	75	0	256	254	1		1	1	1	0	0	28	1173	0	1.000000	9.998870e-01	1	14	332	34	1694	76	256
CACNG5	27091	broad.mit.edu	37	17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	205				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAAGCGGTACACCGCGGAGGA	0.607																																						ENST00000533854.1	0.690000	0.160000	0.530000	0.250000	0.370000	0.400896	0.370000	0.360000																										0				24						c.(613-615)Acc>Gcc		calcium channel, voltage-dependent, gamma subunit 5							79.0	69.0	73.0					17																	64881142		2203	4300	6503	SO:0001583	missense	27091	0	0					g.chr17:64881142A>G	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.613A>G	chr17.hg19:g.64881142A>G	ENSP00000436836:p.Thr205Ala	0					CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A	p.T205A			0	0	0	1.925154	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)	6	850	+			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	0	1	hg19	c.613A>G	CCDS11665.1	0	.	.	.	.	.	.	.	.	.	.	A	3.029	-0.200130	0.06219	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.42900	0.96;0.96	3.42	3.42	0.39159	3.42	3.42	0.39159	.	.	.	.	.	T	0.14743	0.0356	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13602	-1.0503	9	0.06099	T	0.92	.	7.1109	0.25390	0.8954:0.0:0.1046:0.0	.	205	Q9UF02	CCG5_HUMAN	A	205	ENSP00000436836:T205A;ENSP00000303092:T205A	ENSP00000303092:T205A	T	+	1	0	0	CACNG5	62311604	62311604	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.519000	0.60517	1.815000	0.52974	0.491000	0.48974	ACC	0.071175		TCGA-H6-A45N-01A-11D-A26I-08	0.607	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	0	0	0	2	2	2	2	0	0	0	0	51	51	51	49	1	2.030000	-7.685066	1	0.110000	NM_014404, NM_145811		0	7	7	0	325	321	0		1			0	0	51	0	0	0.980039	0	0	0	0	0	0	7	325
PRKACA	5566	broad.mit.edu	37	19	14208284	14208284	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.K210K	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCCACGGCCTTGTTGTAGC	0.637																																						ENST00000308677.4	1.000000	0.740000	1.000000	0.920000	0.990000	0.970321	0.990000	1.000000																										0				16						c.(652-654)aaG>aaA		protein kinase, cAMP-dependent, catalytic, alpha							33.0	38.0	36.0					19																	14208284		2203	4300	6503	SO:0001819	synonymous_variant	5566	0	0					g.chr19:14208284C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.654G>A	chr19.hg19:g.14208284C>T		0					PRKACA_ENST00000589994.1_Silent_p.K210K|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	p.K218K	NM_002730.3	NP_002721.1	0	1	1	1.984457	P17612	KAPCA_HUMAN		8	850	-			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	1	1	hg19	c.654G>A	CCDS12304.1	1																																																																																								0.102098		TCGA-H6-A45N-01A-11D-A26I-08	0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	1	0	1	2	2	2	2	0	0	0	0	72	72	72	72	1	2.030000	-20.000000	1	0.110000	NM_002730		0	22	21	0	323	321	0		1	1		0	0	72	0	0	0.999999	9.610794e-01	0	10	0	71	0	22	323
BCKDHA	593	broad.mit.edu	37	19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000535632.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	243					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCAGCCAGTGAGGGGGACGC	0.642																																						ENST00000269980.2	1.000000	0.170000	1.000000	0.260000	0.400000	0.521864	0.400000	0.340000																										0				10						c.(727-729)Gag>Aag		branched chain keto acid dehydrogenase E1, alpha polypeptide							70.0	63.0	66.0					19																	41928149		2203	4300	6503	SO:0001583	missense	593	0	0					g.chr19:41928149G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.727G>A	chr19.hg19:g.41928149G>A	ENSP00000269980:p.Glu243Lys	0					BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR	p.E243K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	1	2	3	2.070874	P12694	ODBA_HUMAN		6	1095	+			B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	0	1	hg19	c.727G>A	CCDS12581.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.651384	0.96714	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.71	4.71	0.59529	4.71	4.71	0.59529	Dehydrogenase, E1 component (1);	0.104998	0.64402	D	0.000006	D	0.98115	0.9378	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;0.999;1.0	D;P;D;D	0.74674	0.984;0.893;0.981;0.967	D	0.99066	1.0832	10	0.87932	D	0	-44.8836	16.5958	0.84796	0.0:0.0:1.0:0.0	.	221;243;243;277	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	K	277;243;214;221;243	ENSP00000443246:E277K;ENSP00000269980:E243K;ENSP00000440345:E214K;ENSP00000416000:E221K	ENSP00000269980:E243K	E	+	1	0	0	BCKDHA;CTC-435M10.3	46619989	46619989	1.000000	0.71417	0.992000	0.48379	0.746000	0.42486	8.783000	0.91813	2.450000	0.82876	0.655000	0.94253	GAG	0.131029		TCGA-H6-A45N-01A-11D-A26I-08	0.642	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	0	0	0	2	2	2	2	0	0	0	0	62	62	62	61	1	2.030000	-4.394039	1	0.110000	NM_000709		0	8	8	0	434	427	0		1	0		0	0	62	0	0	0.988798	4.058640e-01	0	0	0	70	0	8	434
ZNF224	7767	broad.mit.edu	37	19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	650					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTGTAGAAAAGCCATACAAAT	0.448																																						ENST00000336976.6	1.000000	0.420000	1.000000	0.540000	0.700000	0.744377	0.700000	0.640000																										0				19						c.(1948-1950)aaG>aaC		zinc finger protein 224							97.0	92.0	94.0					19																	44612263		2203	4300	6503	SO:0001583	missense	7767	0	0					g.chr19:44612263G>C	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1950G>C	chr19.hg19:g.44612263G>C	ENSP00000337368:p.Lys650Asn	0					AC084219.4_ENST00000592946.1_RNA	p.K650N	NM_013398.2	NP_037530.2	1	2	3	2.078682	Q9NZL3	ZN224_HUMAN		6	2204	+		Prostate(69;0.0435)	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	1	1	hg19	c.1950G>C	CCDS33046.1	0	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822267	0.32237	.	.	ENSG00000186019	ENST00000336976	T	0.64085	-0.08	3.08	-3.07	0.05363	3.08	-3.07	0.05363	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62648	0.2445	L	0.46614	1.455	0.23851	N	0.996665	D	0.76494	0.999	P	0.60173	0.87	T	0.55560	-0.8122	9	0.72032	D	0.01	.	4.7512	0.13061	0.3991:0.0:0.454:0.147	.	650	Q9NZL3	ZN224_HUMAN	N	650	ENSP00000337368:K650N	ENSP00000337368:K650N	K	+	3	2	2	ZNF224	49304103	49304103	0.000000	0.05858	0.006000	0.13384	0.167000	0.22549	-2.564000	0.00918	-0.239000	0.09710	0.491000	0.48974	AAG	0.132892		TCGA-H6-A45N-01A-11D-A26I-08	0.448	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	0	0	1	2	2	2	2	0	0	0	0	86	86	86	85	1	2.030000	-3.731157	1	0.110000	NM_013398		0	21	21	0	589	582	0		1	0		0	0	86	0	0	0.999997	2.404526e-01	0	0	0	26	0	21	589
PPP1R12C	54776	broad.mit.edu	37	19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCACCAGGCCGGCGCTCCTTG	0.652																																						ENST00000263433.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				22						c.(1090-1092)Cgg>Tgg		protein phosphatase 1, regulatory subunit 12C							43.0	54.0	50.0					19																	55607482		2203	4300	6503	SO:0001583	missense	54776	1	121392	26				g.chr19:55607482G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1090C>T	chr19.hg19:g.55607482G>A	ENSP00000263433:p.Arg364Trp	0					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	1	2	3	2.078682			BRCA - Breast invasive adenocarcinoma(297;0.209)	8	1105	-				Missense_Mutation	SNP	ENST00000263433.3	1	1	hg19	c.1090C>T	CCDS12916.1	1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482775	0.63962	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69306	-0.2;-0.22;-0.39	4.59	2.28	0.28536	4.59	2.28	0.28536	.	0.915533	0.09111	N	0.847095	T	0.54822	0.1882	L	0.50333	1.59	0.32809	D	0.501195	B;B;B	0.33549	0.293;0.417;0.293	B;B;B	0.23716	0.012;0.048;0.021	T	0.59215	-0.7496	10	0.66056	D	0.02	.	5.3627	0.16098	0.0964:0.0:0.5419:0.3618	.	290;364;364	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	364;364;290	ENSP00000263433:R364W;ENSP00000365573:R364W;ENSP00000387833:R290W	ENSP00000263433:R364W	R	-	1	2	2	PPP1R12C	60299294	60299294	1.000000	0.71417	0.975000	0.42487	0.855000	0.48748	0.985000	0.29578	0.401000	0.25424	0.655000	0.94253	CGG	0.132892		TCGA-H6-A45N-01A-11D-A26I-08	0.652	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	1	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	2.030000	-3.221883	1	0.110000	NM_017607		0	74	74	0	639	626	1		1	1		0	0	93	0	0	1.000000	9.994806e-01	0	18	0	78	0	74	639
RANBP3	8498	broad.mit.edu	37	19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000591124.1_5'Flank|RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	231					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCACTGACCTCAAGTGCACAC	0.647																																						ENST00000340578.6	1.000000	0.300000	0.880000	0.450000	0.640000	0.662054	0.640000	1.000000																										0				18						c.(691-693)Gag>Aag		RAN binding protein 3							39.0	43.0	41.0					19																	5931417		2155	4252	6407	SO:0001583	missense	8498	0	0					g.chr19:5931417C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.691G>A	chr19.hg19:g.5931417C>T	ENSP00000341483:p.Glu231Lys	0					RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000591124.1_5'Flank|RANBP3_ENST00000591092.1_Intron	p.E231K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	0	1	1	1.984457	Q9H6Z4	RANB3_HUMAN		8	748	-			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	0	1	hg19	c.691G>A	CCDS42478.1	0	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028634	0.08054	.	.	ENSG00000031823	ENST00000340578;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T	0.29655	1.56;2.31;1.57	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.447428	0.23254	N	0.050220	T	0.18923	0.0454	N	0.12182	0.205	0.80722	D	1	P;P;P	0.40534	0.72;0.59;0.598	B;B;B	0.43536	0.423;0.423;0.243	T	0.02705	-1.1121	10	0.02654	T	1	-31.6799	14.2449	0.65981	0.0:1.0:0.0:0.0	.	103;163;231	F5H4C2;Q9H6Z4-3;Q9H6Z4	.;.;RANB3_HUMAN	K	231;163;162;103	ENSP00000341483:E231K;ENSP00000034275:E163K;ENSP00000445071:E103K	ENSP00000034275:E163K	E	-	1	0	0	RANBP3	5882417	5882417	0.973000	0.33851	0.966000	0.40874	0.055000	0.15305	3.054000	0.49908	2.820000	0.97059	0.650000	0.86243	GAG	0.102098		TCGA-H6-A45N-01A-11D-A26I-08	0.647	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	0	0	1	2	2	2	2	0	0	0	0	43	43	43	42	1	2.030000	-9.685932	1	0.110000	NM_007322		0	8	8	0	222	221	0		1	1		0	0	43	0	0	0.989548	3.356616e-01	0	4	0	27	0	8	222
ZBTB45	84878	broad.mit.edu	37	19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCTGCCCATTGAGGGTCTC	0.612											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1	1.000000	0.990000	1.000000	0.990000	0.990000	0.999884	0.990000	1.000000																										0				11						c.(70-72)aAt>aGt		zinc finger and BTB domain containing 45							58.0	64.0	62.0					19																	59028970		2203	4300	6503	SO:0001583	missense	84878	1	121410	29				g.chr19:59028970T>C	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.71A>G	chr19.hg19:g.59028970T>C	ENSP00000469089:p.Asn24Ser	0		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S	p.N24S			1	2	3	2.078682	Q96K62	ZBT45_HUMAN		2	551	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		Missense_Mutation	SNP	ENST00000594051.1	1	1	hg19	c.71A>G	CCDS12984.1	1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.514926	0.64634	.	.	ENSG00000119574	ENST00000354590	T	0.69806	-0.43	3.91	3.91	0.45181	3.91	3.91	0.45181	BTB/POZ (1);BTB/POZ fold (2);	0.162750	0.39407	U	0.001372	T	0.76758	0.4032	M	0.70595	2.14	0.30376	N	0.782376	D	0.65815	0.995	P	0.62382	0.901	T	0.76691	-0.2866	10	0.87932	D	0	.	10.9818	0.47499	0.0:0.0:0.0:1.0	.	24	Q96K62	ZBT45_HUMAN	S	24	ENSP00000346603:N24S	ENSP00000346603:N24S	N	-	2	0	0	ZBTB45	63720782	63720782	1.000000	0.71417	0.953000	0.39169	0.750000	0.42670	4.312000	0.59154	1.557000	0.49525	0.254000	0.18369	AAT	0.132892		TCGA-H6-A45N-01A-11D-A26I-08	0.612	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1	2	2	2	2	0	0	0	0	57	57	57	56	1	2.030000	-20.000000	1	0.110000	NM_032792		0	30	30	0	299	294	0		1	1		0	0	57	0	0	1.000000	5.902484e-01	0	7	0	14	0	30	299
RPRD2	23248	broad.mit.edu	37	1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:150444672C>G	ENST00000369068.4	+	11	3252	c.3248C>G	c.(3247-3249)gCc>gGc	p.A1083G	RPRD2_ENST00000401000.4_Missense_Mutation_p.A1057G|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1083						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAAGGGGGCCCCTATAGAA	0.532																																						ENST00000369068.4	1.000000	0.990000	1.000000	0.990000	0.990000	0.999684	0.990000	1.000000																										0				37						c.(3247-3249)gCc>gGc		regulation of nuclear pre-mRNA domain containing 2							37.0	39.0	39.0					1																	150444672		1882	4105	5987	SO:0001583	missense	23248	0	0					g.chr1:150444672C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3248C>G	chr1.hg19:g.150444672C>G	ENSP00000358064:p.Ala1083Gly	0					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.A1057G	p.A1083G	NM_015203.3	NP_056018.2	1	2	3	2.091038	Q5VT52	RPRD2_HUMAN		11	3252	+			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	1	1	hg19	c.3248C>G	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987202	0.53934	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.56275	0.47;0.48	5.03	4.11	0.48088	5.03	4.11	0.48088	.	0.071687	0.56097	D	0.000029	T	0.38134	0.1029	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.53224	0.53;0.721	T	0.45818	-0.9235	10	0.87932	D	0	-10.3322	12.9366	0.58319	0.0:0.9213:0.0:0.0787	.	1083;1057	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	G	1057;1083	ENSP00000383785:A1057G;ENSP00000358064:A1083G	ENSP00000358064:A1083G	A	+	2	0	0	RPRD2	148711296	148711296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	1.328000	0.45358	0.655000	0.94253	GCC	0.135209		TCGA-H6-A45N-01A-11D-A26I-08	0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	1	0	1	2	2	2	2	0	0	0	0	58	58	58	56	1	2.030000	-20.000000	1	0.110000	NM_015203		0	33	33	0	365	361	0		1	0		0	0	58	0	0	1.000000	6.310998e-01	0	1	0	24	0	33	365
BEND5	79656	broad.mit.edu	37	1	49208355	49208355	+	Silent	SNP	C	C	T	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	278						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						AATAGGACGACGTATTTGCTT	0.478																																						ENST00000371833.3	0.870000	0.360000	0.730000	0.460000	0.580000	0.605051	0.580000	0.580000																										0				8						c.(832-834)acG>acA		BEN domain containing 5		C	,	1,4405	2.1+/-5.4	0,1,2202	135.0	124.0	127.0		834,	4.5	1.0	1	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous,intron	BEND5,AGBL4	NM_024603.2,NM_032785.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	278/422,	49208355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79656	3	121412	38				g.chr1:49208355C>T	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.834G>A	chr1.hg19:g.49208355C>T		0					AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	p.T278T	NM_024603.2	NP_078879.2	0	1	1	1.992166	Q7L4P6	BEND5_HUMAN		4	920	-			D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	1	1	hg19	c.834G>A	CCDS552.2	0																																																																																								0.104087		TCGA-H6-A45N-01A-11D-A26I-08	0.478	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	2.030000	-3.129055	1	0.110000	NM_024603		0	19	19	0	567	566	0		1	0		0	0	93	0	0	0.999991	5.323251e-02	0	0	0	11	0	19	567
ZCCHC11	23318	broad.mit.edu	37	1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	802					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTTTGCTGGTAGAAAGAGA	0.363																																						ENST00000371544.3	1.000000	0.560000	0.910000	0.660000	0.770000	0.787600	0.770000	1.000000																										0				58						c.(2404-2406)aCc>aTc		zinc finger, CCHC domain containing 11							146.0	146.0	146.0					1																	52940826		2202	4300	6502	SO:0001583	missense	23318	0	0					g.chr1:52940826G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2405C>T	chr1.hg19:g.52940826G>A	ENSP00000360599:p.Thr802Ile	0					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I|ZCCHC11_ENST00000371541.1_5'UTR	p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	0	1	1	1.992166	Q5TAX3	TUT4_HUMAN		13	2667	-			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	1	1	hg19	c.2405C>T	CCDS30716.1	0	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785809	0.16189	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.89;0.89;0.88;0.88	5.49	4.54	0.55810	5.49	4.54	0.55810	.	1.017500	0.07834	N	0.961803	T	0.34716	0.0907	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.14023	0.008;0.01	T	0.02437	-1.1159	10	0.33141	T	0.24	.	15.6404	0.76997	0.0:0.0:0.862:0.138	.	561;802	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	802;802;731;561	ENSP00000257177:T802I;ENSP00000360599:T802I;ENSP00000433486:T731I;ENSP00000435256:T561I	ENSP00000257177:T802I	T	-	2	0	0	ZCCHC11	52713414	52713414	0.890000	0.30428	1.000000	0.80357	0.288000	0.27193	3.391000	0.52530	2.570000	0.86706	0.557000	0.71058	ACC	0.104087		TCGA-H6-A45N-01A-11D-A26I-08	0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1	2	2	2	2	0	0	0	0	75	75	75	74	1	2.030000	-4.880996	1	0.110000	XM_038288		0	39	39	0	864	860	0		1	0		0	0	75	0	0	1.000000	9.696337e-02	0	0	0	12	0	39	864
CD5L	922	broad.mit.edu	37	1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTCACAGCGGTGGAGGCCC	0.617																																						ENST00000368174.4	1.000000	0.560000	1.000000	0.680000	0.840000	0.843546	0.840000	1.000000																										0				52						c.(94-96)Cgc>Tgc		CD5 molecule-like							40.0	43.0	42.0					1																	157805907		2203	4300	6503	SO:0001583	missense	922	0	0					g.chr1:157805907G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.94C>T	chr1.hg19:g.157805907G>A	ENSP00000357156:p.Arg32Cys	0					CD5L_ENST00000484609.1_5'UTR	p.R32C	NM_005894.2	NP_005885.1	1	2	3	2.091038	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)	3	190	-	all_hematologic(112;0.0378)		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	1	1	hg19	c.94C>T	CCDS1171.1	0	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823367	0.50739	.	.	ENSG00000073754	ENST00000368174	T	0.37058	1.22	4.85	2.81	0.32909	4.85	2.81	0.32909	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.56396	0.1982	M	0.92219	3.285	0.35417	D	0.792925	D	0.89917	1.0	D	0.72075	0.976	T	0.68096	-0.5499	10	0.62326	D	0.03	.	11.5219	0.50555	0.0:0.0:0.6787:0.3213	.	32	O43866	CD5L_HUMAN	C	32	ENSP00000357156:R32C	ENSP00000357156:R32C	R	-	1	0	0	CD5L	156072531	156072531	0.000000	0.05858	0.555000	0.28281	0.326000	0.28443	-0.366000	0.07563	1.198000	0.43158	0.563000	0.77884	CGC	0.135209		TCGA-H6-A45N-01A-11D-A26I-08	0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	1	0	1	2	2	2	2	0	0	0	0	78	78	78	77	1	2.030000	-3.022063	1	0.110000	NM_005894		0	32	32	0	732	715	0		1			0	0	78	0	0	1.000000	0	0	0	0	0	0	32	732
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512																																						ENST00000397527.1	1.000000	0.370000	1.000000	0.510000	0.690000	0.718883	0.690000	1.000000																										0				45						c.(4549-4551)Cgg>Tgg		centrosomal protein 250kDa							60.0	64.0	63.0					20																	34090746		2203	4300	6503	SO:0001583	missense	11190	1	121412	29				g.chr20:34090746C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4549C>T	chr20.hg19:g.34090746C>T	ENSP00000380661:p.Arg1517Trp	0					CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	p.R1517W	NM_007186.3	NP_009117.2	1	2	3	2.025043	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)	30	5269	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	1	1	hg19	c.4549C>T	CCDS13255.1	0	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012870	0.54468	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50001	2.74;2.74;0.76	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.701912	0.12939	N	0.426736	T	0.66906	0.2837	M	0.81497	2.545	0.09310	N	1	D	0.71674	0.998	P	0.56916	0.809	T	0.61544	-0.7041	10	0.72032	D	0.01	.	16.2304	0.82332	0.0:1.0:0.0:0.0	.	1517	Q9BV73	CP250_HUMAN	W	1517;1461;5	ENSP00000380661:R1517W;ENSP00000341541:R1461W;ENSP00000395992:R5W	ENSP00000341541:R1461W	R	+	1	2	2	CEP250	33554160	33554160	0.001000	0.12720	0.463000	0.27130	0.698000	0.40448	1.499000	0.35671	2.420000	0.82092	0.561000	0.74099	CGG	0.121118		TCGA-H6-A45N-01A-11D-A26I-08	0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	0	0	1	2	2	2	2	0	0	0	0	72	72	72	71	1	2.030000	-3.182996	1	0.110000	NM_007186		0	14	14	0	392	385	0		1	0		0	0	72	0	0	0.999734	2.751882e-01	0	0	0	28	0	14	392
CDH22	64405	broad.mit.edu	37	20	44856262	44856262	+	Silent	SNP	C	C	T	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCATCACCGACGTGCCTGGGC	0.682																																						ENST00000372262.3	1.000000	0.560000	1.000000	0.830000	0.990000	0.940271	0.990000	1.000000																										0				44						c.(553-555)acG>acA		cadherin 22, type 2		C		1,4403	2.1+/-5.4	0,1,2201	33.0	28.0	30.0		555	0.6	1.0	20	dbSNP_134	30	0,8598		0,0,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		185/829	44856262	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	64405	1	121246	29				g.chr20:44856262C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.555G>A	chr20.hg19:g.44856262C>T		0					CDH22_ENST00000537909.1_Silent_p.T185T	p.T185T	NM_021248.1	NP_067071.1	1	2	3	2.025043	Q9UJ99	CAD22_HUMAN		3	955	-		Myeloproliferative disorder(115;0.0122)	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	1	1	hg19	c.555G>A	CCDS13395.1	1																																																																																								0.121118		TCGA-H6-A45N-01A-11D-A26I-08	0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	2.030000	-11.890100	1	0.110000	NM_021248		0	8	8	0	124	121	0		1	0		0	0	25	0	0	0.989099	2.678063e-01	0	0	0	15	0	8	124
CASS4	57091	broad.mit.edu	37	20	55033728	55033728	+	Silent	SNP	C	C	T	rs112583744		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:55033728C>T	ENST00000360314.3	+	7	2511	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	CASS4_ENST00000371336.3_Silent_p.A762A|CASS4_ENST00000434344.1_Silent_p.A325A|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	762					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGCCCTGCCGCGCTGGGGC	0.637																																						ENST00000360314.3	1.000000	0.390000	1.000000	0.600000	0.900000	0.834200	0.900000	1.000000																										0				54						c.(2284-2286)gcC>gcT		Cas scaffolding protein family member 4							44.0	36.0	38.0					20																	55033728		2203	4300	6503	SO:0001819	synonymous_variant	57091	10	121398	40				g.chr20:55033728C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2286C>T	chr20.hg19:g.55033728C>T		0					AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.A762A|CASS4_ENST00000434344.1_Silent_p.A325A	p.A762A	NM_001164116.1	NP_001157588.1	1	2	3	2.025043	Q9NQ75	CASS4_HUMAN		7	2511	+			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	0	1	hg19	c.2286C>T	CCDS33492.1	1																																																																																								0.121118		TCGA-H6-A45N-01A-11D-A26I-08	0.637	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	2.030000	-10.006480	1	0.110000	NM_020356		0	7	8	0	153	152	0		1	0		0	0	19	0	0	0.981350	1.506310e-02	0	0	0	4	0	7	153
CACNA1I	8911	broad.mit.edu	37	22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:40061961G>A	ENST00000402142.3	+	23	4054	c.4054G>A	c.(4054-4056)Gcc>Acc	p.A1352T	CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1358T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1352					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCATGGCCGCCAACTACCG	0.597																																						ENST00000402142.3	1.000000	0.490000	1.000000	0.630000	0.800000	0.806166	0.800000	1.000000																										0				60						c.(4054-4056)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)						104.0	112.0	109.0					22																	40061961		2150	4239	6389	SO:0001583	missense	8911	1	121182	30				g.chr22:40061961G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4054G>A	chr22.hg19:g.40061961G>A	ENSP00000385019:p.Ala1352Thr	0					CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1358T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T	p.A1352T	NM_021096.3	NP_066919.2	0	0	0	1.935226	Q9P0X4	CAC1I_HUMAN		23	4054	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	1	1	hg19	c.4054G>A	CCDS46710.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.371351	0.95923	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	4.3	4.3	0.51218	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	N	0.25144	0.715	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	D	0.99870	1.1095	10	0.72032	D	0.01	.	16.7468	0.85474	0.0:0.0:1.0:0.0	.	1317;1352;1317;1352	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	T	1352;1317;1352;1317;1358;1317	ENSP00000385019:A1352T;ENSP00000384093:A1317T;ENSP00000383887:A1352T;ENSP00000385680:A1317T;ENSP00000337829:A1358T;ENSP00000383028:A1317T	ENSP00000337829:A1358T	A	+	1	0	0	CACNA1I	38391907	38391907	1.000000	0.71417	0.942000	0.38095	0.990000	0.78478	9.749000	0.98871	1.915000	0.55452	0.462000	0.41574	GCC	0.076476		TCGA-H6-A45N-01A-11D-A26I-08	0.597	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	1	0	1	2	2	2	2	0	0	0	0	84	84	84	83	1	2.030000	-2.590710	1	0.110000	NM_001003406		0	18	18	0	370	368	0		1			0	0	84	0	0	0.999982	0	0	0	0	0	0	18	370
KCNH7	90134	broad.mit.edu	37	2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	465					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTAAAATATCTATGATAAAC	0.363																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5	1.000000	0.420000	1.000000	0.580000	0.800000	0.799446	0.800000	1.000000																										0				108						c.(1393-1395)Gat>Aat		potassium voltage-gated channel, subfamily H (eag-related), member 7	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						89.0	83.0	85.0					2																	163302689		2203	4300	6503	SO:0001583	missense	90134	0	0					g.chr2:163302689C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1393G>A	chr2.hg19:g.163302689C>T	ENSP00000331727:p.Asp465Asn	0					KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	p.D465N	NM_033272.3	NP_150375.2	1	2	3	2.048955	Q9NS40	KCNH7_HUMAN		7	1492	-			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	1	1	hg19	c.1393G>A	CCDS2219.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.297171	0.95574	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98120	-4.73;-4.73	5.85	5.85	0.93711	5.85	5.85	0.93711	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99402	1.0928	10	0.87932	D	0	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	458;465	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	465;458	ENSP00000331727:D465N;ENSP00000333781:D458N	ENSP00000333781:D458N	D	-	1	0	0	KCNH7	163010935	163010935	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.772000	0.95346	0.650000	0.86243	GAT	0.126337		TCGA-H6-A45N-01A-11D-A26I-08	0.363	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1	2	2	2	2	0	0	0	0	39	39	39	39	1	2.030000	-13.910770	1	0.110000	NM_033272		0	13	13	0	320	317	0		1			0	0	39	0	0	0.999531	0	0	0	0	0	0	13	320
MYL1	4632	broad.mit.edu	37	2	211179819	211179819	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAAAAGAACCTGTCAAAATG	0.463																																						ENST00000352451.3	1.000000	0.480000	1.000000	0.580000	0.700000	0.749400	0.700000	0.670000																										0				16								myosin, light chain 1, alkali; skeletal, fast																																						4632	0	0					g.chr2:211179819C>A		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992		chr2.hg19:g.211179819C>A		0							NM_079420.2	NP_524144.1	1	2	3	2.046620	P05976	MYL1_HUMAN		0	95	-			B2R4N6|B2R4T6|P06741|Q6IBD5	Translation_Start_Site	SNP	ENST00000352451.3	0	1	hg19		CCDS2390.1	0																																																																																								0.125866		TCGA-H6-A45N-01A-11D-A26I-08	0.463	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	0	0	1	2	2	2	2	0	0	0	0	65	65	65	65	1	2.030000	-2.717127	1	0.110000	NM_079420		0	37	37	0	986	973	0		1			0	0	65	0	0	1.000000	0	0	0	0	0	0	37	986
FN1	2335	broad.mit.edu	37	2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:216263993C>T	ENST00000359671.1	-	21	3600	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000354785.4_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1	1112	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AAAACCAATTCTTGGAGCAGG	0.493																																						ENST00000359671.1	1.000000	0.270000	1.000000	0.370000	0.520000	0.602323	0.520000	0.470000																									FN1/ALK(2)	0				109						c.(3334-3336)aGa>aAa		fibronectin 1	Ocriplasmin(DB08888)						164.0	157.0	159.0					2																	216263993		2203	4300	6503	SO:0001583	missense	2335	0	0					g.chr2:216263993C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3335G>A	chr2.hg19:g.216263993C>T	ENSP00000352696:p.Arg1112Lys	0					FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000354785.4_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K	p.R1112K			1	2	3	2.046620	P02751	FINC_HUMAN		21	3600	-		Renal(323;0.127)	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	0	1	hg19	c.3335G>A		0	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019242	0.75275	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.37630	1.12	0.50813	D	0.999892	D;B;P;D;D;B;D;P;D;P	0.65815	0.974;0.16;0.542;0.974;0.962;0.289;0.995;0.953;0.974;0.947	D;B;P;D;D;B;D;D;D;D	0.83275	0.977;0.132;0.493;0.977;0.987;0.279;0.996;0.977;0.977;0.977	T	0.56159	-0.8025	10	0.21540	T	0.41	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	1112;1112;1112;1112;1112;1112;1112;1112;1112;1112	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	1112	ENSP00000394423:R1112K;ENSP00000323534:R1112K;ENSP00000338200:R1112K;ENSP00000350534:R1112K;ENSP00000346839:R1112K;ENSP00000352696:R1112K;ENSP00000265312:R1112K;ENSP00000273049:R1112K;ENSP00000349509:R1112K;ENSP00000410422:R1112K;ENSP00000415018:R1112K;ENSP00000399538:R1112K;ENSP00000348285:R1112K	ENSP00000265313:R1112K	R	-	2	0	0	FN1	215972238	215972238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.928000	0.63447	2.716000	0.92895	0.655000	0.94253	AGA	0.125866		TCGA-H6-A45N-01A-11D-A26I-08	0.493	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	70	70	70	70	1	2.030000	-11.158620	1	0.110000	NM_212476		0	13	13	0	502	494	0		1	1		0	0	70	0	0	0.999493	9.994373e-01	0	8	0	492	0	13	502
C2orf71	388939	broad.mit.edu	37	2	29296606	29296606	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	174					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGGAAGTCCACTTTGCCTT	0.502																																						ENST00000331664.5	1.000000	0.350000	1.000000	0.470000	0.630000	0.687827	0.630000	0.570000																										0				60						c.(520-522)gtG>gtA		chromosome 2 open reading frame 71							127.0	127.0	127.0					2																	29296606		2088	4207	6295	SO:0001819	synonymous_variant	388939	0	0					g.chr2:29296606C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.522G>A	chr2.hg19:g.29296606C>T		0						p.V174V	NM_001029883.2	NP_001025054.1	1	2	3	2.048955	A6NGG8	CB071_HUMAN		1	521	-				Silent	SNP	ENST00000331664.5	1	1	hg19	c.522G>A	CCDS42669.1	0																																																																																								0.126337		TCGA-H6-A45N-01A-11D-A26I-08	0.502	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	0	0	1	2	2	2	2	0	0	0	0	53	53	53	52	1	2.030000	-3.025233	1	0.110000	NM_001029883		0	16	16	0	498	498	0		1			0	0	53	0	0	0.999935	0	0	0	0	0	0	16	498
PRKAG3	53632	broad.mit.edu	37	2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219694941A>T	ENST00000529249.1	-	4	708	c.393T>A	c.(391-393)gaT>gaA	p.D131E	PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D106E|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	131					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GCTCCACATCATCTGTGCTGG	0.647																																						ENST00000529249.1	1.000000	0.220000	1.000000	0.350000	0.550000	0.616767	0.550000	0.450000																										0				20						c.(391-393)gaT>gaA		protein kinase, AMP-activated, gamma 3 non-catalytic subunit	Acetylsalicylic acid(DB00945)						31.0	32.0	31.0					2																	219694941		2203	4300	6503	SO:0001583	missense	53632	0	0					g.chr2:219694941A>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.393T>A	chr2.hg19:g.219694941A>T	ENSP00000436068:p.Asp131Glu	0					PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D106E|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E	p.D131E			1	2	3	2.046620	Q9UGI9	AAKG3_HUMAN		4	708	-		Renal(207;0.0474)	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	1	1	hg19	c.393T>A	CCDS2424.1	0	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006801	0.74932	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098	T;D;T	0.81499	-1.49;-1.5;0.32	5.5	-3.3	0.05003	5.5	-3.3	0.05003	.	1.207880	0.05931	N	0.635284	T	0.73481	0.3592	L	0.29908	0.895	0.09310	N	1	D;B;B	0.63046	0.992;0.287;0.189	P;B;B	0.51385	0.668;0.143;0.107	T	0.64271	-0.6447	10	0.24483	T	0.36	-9.8613	6.8052	0.23774	0.4716:0.1295:0.3988:0.0	.	131;106;131	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	E	106;131;131	ENSP00000397133:D106E;ENSP00000436068:D131E;ENSP00000375947:D131E	ENSP00000233944:D131E	D	-	3	2	2	PRKAG3	219403185	219403185	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.591000	0.05753	-0.504000	0.06577	0.533000	0.62120	GAT	0.125866		TCGA-H6-A45N-01A-11D-A26I-08	0.647	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	0	0	1	2	2	2	2	0	0	0	0	36	36	36	35	1	2.030000	-8.884430	1	0.110000			0	7	7	0	272	272	0		1			0	0	36	0	0	0.980973	0	0	0	0	0	0	7	272
TPRG1	285386	broad.mit.edu	37	3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	94						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGAGACCATTCAAGGCTTCTG	0.483																																						ENST00000345063.3	1.000000	0.390000	1.000000	0.570000	0.810000	0.794544	0.810000	1.000000																										0				16						c.(280-282)Caa>Taa		tumor protein p63 regulated 1							73.0	67.0	69.0					3																	188933150		2203	4300	6503	SO:0001587	stop_gained	285386	0	0					g.chr3:188933150C>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.280C>T	chr3.hg19:g.188933150C>T	ENSP00000341031:p.Gln94*	0					TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	p.Q94*	NM_198485.3	NP_940887.1	1	2	3	2.027261	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	3	447	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)		Nonsense_Mutation	SNP	ENST00000345063.3	0	1	hg19	c.280C>T	CCDS3292.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844383|4.844383	0.91197|0.91197	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832|ENST00000425670	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.205984|.	0.52532|.	D|.	0.000067|.	.|T	.|0.65821	.|0.2728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69698	.|-0.5075	.|3	0.44086|.	T|.	0.13|.	-8.88|-8.88	14.7487|14.7487	0.69508|0.69508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	94|21	.|.	ENSP00000341031:Q94X|.	Q|S	+|+	1|2	0|0	0|0	TPRG1|TPRG1	190415844|190415844	190415844|190415844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.424000|2.424000	0.44714|0.44714	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CAA|TCA	0.121595		TCGA-H6-A45N-01A-11D-A26I-08	0.483	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	2.030000	-3.234426	1	0.110000	NM_198485		0	10	10	0	242	240	0		1	0		0	0	32	0	0	0.996924	2.667599e-02	0	0	0	6	0	10	242
SPATA5	166378	broad.mit.edu	37	4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:123855729C>T	ENST00000274008.4	+	5	1052	c.983C>T	c.(982-984)tCa>tTa	p.S328L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	328					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTATTTCTTCAACAACAAGA	0.343																																						ENST00000274008.4	0.940000	0.270000	0.740000	0.390000	0.550000	0.573230	0.550000	0.530000																										0				24						c.(982-984)tCa>tTa		spermatogenesis associated 5							38.0	39.0	39.0					4																	123855729		2202	4299	6501	SO:0001583	missense	166378	0	0					g.chr4:123855729C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.983C>T	chr4.hg19:g.123855729C>T	ENSP00000274008:p.Ser328Leu	0					SPATA5_ENST00000422835.2_3'UTR	p.S328L	NM_145207.2	NP_660208.2	0	1	1	1.990017	Q8NB90	SPAT5_HUMAN		5	1052	+			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	0	1	hg19	c.983C>T	CCDS3730.1	0	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509992	0.64522	.	.	ENSG00000145375	ENST00000274008	D	0.94613	-3.47	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.280274	0.35903	N	0.002902	D	0.92414	0.7592	L	0.31752	0.955	0.41954	D	0.990675	P;P	0.39376	0.67;0.616	B;B	0.42851	0.4;0.343	D	0.93179	0.6573	10	0.66056	D	0.02	-13.3745	18.9179	0.92513	0.0:1.0:0.0:0.0	.	328;328	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	328	ENSP00000274008:S328L	ENSP00000274008:S328L	S	+	2	0	0	SPATA5	124075179	124075179	0.982000	0.34865	1.000000	0.80357	0.990000	0.78478	1.715000	0.37971	2.705000	0.92388	0.655000	0.94253	TCA	0.103591		TCGA-H6-A45N-01A-11D-A26I-08	0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	2.030000	-9.815892	1	0.110000	NM_145207		0	9	9	0	294	292	0		1	0		0	0	19	0	0	0.994231	0	0	0	0	1	0	9	294
TMEM14B	81853	broad.mit.edu	37	6	10755436	10755436	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:10755436C>T	ENST00000379542.5	+	5	431	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000379530.3_Silent_p.F54F|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000467317.1_Silent_p.F88F|TMEM14B_ENST00000473276.1_Missense_Mutation_p.H29Y|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|RP11-637O19.3_ENST00000480294.1_Intron	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	88						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGAAAATTCATGCCTGTAG	0.368																																						ENST00000379542.5	1.000000	0.680000	1.000000	0.870000	0.990000	0.954257	0.990000	1.000000																										0				11						c.(262-264)ttC>ttT		transmembrane protein 14B							186.0	171.0	176.0					6																	10755436		2203	4300	6503	SO:0001819	synonymous_variant	81853	0	0					g.chr6:10755436C>T	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.264C>T	chr6.hg19:g.10755436C>T		0					TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000473276.1_Missense_Mutation_p.H29Y|TMEM14B_ENST00000481240.1_Silent_p.F54F|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Silent_p.F88F	p.F88F	NM_030969.3	NP_112231.3	1	2	3	2.053973	Q9NUH8	TM14B_HUMAN		5	431	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Silent	SNP	ENST00000379542.5	1	1	hg19	c.264C>T	CCDS4515.1	1	.	.	.	.	.	.	.	.	.	.	C	5.731	0.319266	0.10845	.	.	ENSG00000137210	ENST00000473276	T	0.40225	1.04	3.84	-5.39	0.02664	3.84	-5.39	0.02664	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47341	-0.9125	5	.	.	.	.	13.8756	0.63651	0.1176:0.7423:0.0:0.1401	.	.	.	.	Y	29	ENSP00000420580:H29Y	.	H	+	1	0	0	TMEM14B	10863422	10863422	0.156000	0.22821	0.899000	0.35326	0.435000	0.31806	-0.928000	0.03980	-1.139000	0.02881	-0.367000	0.07326	CAT	0.127280		TCGA-H6-A45N-01A-11D-A26I-08	0.368	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	0	0	1	2	2	2	2	0	0	0	0	33	33	33	33	1	2.030000	-5.415077	1	0.110000	NM_030969		0	21	20	0	355	352	0		1	1		0	0	33	0	0	0.999997	9.876232e-01	0	12	0	109	0	21	355
NRN1	51299	broad.mit.edu	37	6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	55				GL -> AW (in Ref. 3; AAP97232). {ECO:0000305}.	nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGTCCAGGCCCTGCGGGTAG	0.612																																						ENST00000244766.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999799	0.990000	1.000000																										0				8						c.(163-165)Ggc>Cgc		neuritin 1							158.0	132.0	141.0					6																	6002623		2203	4300	6503	SO:0001583	missense	51299	0	0					g.chr6:6002623C>G	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.163G>C	chr6.hg19:g.6002623C>G	ENSP00000244766:p.Gly55Arg	0					NRN1_ENST00000495850.1_5'UTR	p.G55R	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	1	2	3	2.053973	Q9NPD7	NRN1_HUMAN		2	380	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	1	1	hg19	c.163G>C	CCDS4495.1	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348508	0.61183	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	4.24	4.24	0.50183	.	0.313474	0.30285	N	0.009976	T	0.18130	0.0435	N	0.14661	0.345	0.41287	D	0.986956	B	0.32160	0.358	B	0.27608	0.081	T	0.07290	-1.0780	9	0.21014	T	0.42	-12.6147	13.9329	0.64007	0.0:1.0:0.0:0.0	.	55	Q9NPD7	NRN1_HUMAN	R	55	.	ENSP00000244766:G55R	G	-	1	0	0	NRN1	5947622	5947622	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.796000	0.62496	2.185000	0.69588	0.462000	0.41574	GGC	0.127280		TCGA-H6-A45N-01A-11D-A26I-08	0.612	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1	1	0	1	2	2	2	2	0	0	0	0	120	120	120	119	1	2.030000	-3.075755	1	0.110000			0	51	51	0	607	602	0		1	0		0	0	120	0	0	1.000000	1.553176e-01	0	0	0	9	0	51	607
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A	rs576225753		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.0					ENST00000257749.4	0.980000	0.530000	0.920000	0.650000	0.790000	0.791493	0.790000	0.810000																										0				45						c.(1585-1587)gCg>gTg		BTB and CNC homology 1, basic leucine zipper transcription factor 2							55.0	58.0	57.0					6																	90660239		2203	4300	6503	SO:0001583	missense	60468	2	121412	34				g.chr6:90660239G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1586C>T	chr6.hg19:g.90660239G>A	ENSP00000257749:p.Ala529Val	1					RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V	p.A529V	NM_021813.2	NP_068585.1	0	0	0	1.899093	Q9BYV9	BACH2_HUMAN		7	2293	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	1	1	hg19	c.1586C>T	CCDS5026.1	0	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288626	0.80914	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.45276	0.9;0.9;0.9	5.2	5.2	0.72013	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.51309	-0.8722	10	0.59425	D	0.04	-6.4783	18.7377	0.91761	0.0:0.0:1.0:0.0	.	529	Q9BYV9	BACH2_HUMAN	V	529	ENSP00000257749:A529V;ENSP00000437473:A529V;ENSP00000345642:A529V	ENSP00000257749:A529V	A	-	2	0	0	BACH2	90716960	90716960	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.230000	0.95299	2.435000	0.82474	0.460000	0.39030	GCG	0.058201		TCGA-H6-A45N-01A-11D-A26I-08	0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	2.030000	-3.225608	1	0.110000	NM_021813		0	24	23	0	468	467	0		1	0		0	0	57	0	0	1.000000	0	0	0	0	1	0	24	468
PSMB1	5689	broad.mit.edu	37	6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	142					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CCTTCTTCATCAAGTCCACCG	0.423																																						ENST00000262193.6	0.880000	0.350000	0.750000	0.460000	0.590000	0.608571	0.590000	0.580000																										0				5						c.(424-426)Gat>Cat		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)|Carfilzomib(DB08889)						109.0	101.0	104.0					6																	170852698		2203	4300	6503	SO:0001583	missense	5689	0	0					g.chr6:170852698C>G	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.424G>C	chr6.hg19:g.170852698C>G	ENSP00000262193:p.Asp142His	1					PSMB1_ENST00000462957.1_5'UTR	p.D142H	NM_002793.3	NP_002784.1	0	0	0	1.899093	P20618	PSB1_HUMAN		4	522	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	1	1	hg19	c.424G>C	CCDS34577.1	0	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559079	0.86335	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.59502	0.26	4.93	4.93	0.64822	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86008	0.1499	10	0.87932	D	0	-25.2937	18.5453	0.91044	0.0:1.0:0.0:0.0	.	142	P20618	PSB1_HUMAN	H	142;147	ENSP00000262193:D142H	ENSP00000262193:D142H	D	-	1	0	0	PSMB1	170694623	170694623	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	6.990000	0.76225	2.451000	0.82905	0.650000	0.86243	GAT	0.058201		TCGA-H6-A45N-01A-11D-A26I-08	0.423	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	0	0	1	2	2	2	2	0	0	0	0	53	53	53	52	1	2.030000	-3.295371	1	0.110000	NM_002793		0	16	17	0	442	434	1		1	1		0	0	53	0	0	0.999927	9.991468e-01	0	36	0	287	0	16	442
ANKMY2	57037	broad.mit.edu	37	7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	162						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTGCAGCGGGCCTGCCAACTT	0.428																																						ENST00000306999.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999432	0.990000	1.000000																										0				23						c.(484-486)gGc>gTc		ankyrin repeat and MYND domain containing 2							100.0	97.0	98.0					7																	16655415		2203	4300	6503	SO:0001583	missense	57037	0	0					g.chr7:16655415C>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.485G>T	chr7.hg19:g.16655415C>A	ENSP00000303570:p.Gly162Val	0						p.G162V	NM_020319.2	NP_064715.1	1	2	3	2.013976	Q8IV38	ANKY2_HUMAN		5	728	-	Lung NSC(10;0.103)|all_lung(11;0.204)		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	1	1	hg19	c.485G>T	CCDS5361.1	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633032	0.67015	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.65975	2.015	0.80722	D	1	P	0.35745	0.518	B	0.26770	0.073	T	0.69423	-0.5149	10	0.42905	T	0.14	-30.5635	20.2886	0.98538	0.0:1.0:0.0:0.0	.	162	Q8IV38	ANKY2_HUMAN	V	162	ENSP00000303570:G162V	ENSP00000303570:G162V	G	-	2	0	0	ANKMY2	16621940	16621940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.670000	0.68088	2.882000	0.98803	0.655000	0.94253	GGC	0.118725		TCGA-H6-A45N-01A-11D-A26I-08	0.428	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	2.030000	-20.000000	1	0.110000	NM_020319		0	25	25	0	256	252	1		1	1		0	0	28	0	0	1.000000	7.901044e-01	0	6	0	26	0	25	256
GARS	2617	broad.mit.edu	37	7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	524					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423																																						ENST00000389266.3	1.000000	0.510000	0.930000	0.600000	0.720000	0.749858	0.720000	0.700000																										0				24						c.(1570-1572)Gag>Aag		glycyl-tRNA synthetase	Glycine(DB00145)						219.0	205.0	210.0					7																	30662035		1948	4156	6104	SO:0001583	missense	2617	0	0					g.chr7:30662035G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1570G>A	chr7.hg19:g.30662035G>A	ENSP00000373918:p.Glu524Lys	0						p.E524K	NM_002047.2	NP_002038.2	1	2	3	2.013976	P41250	SYG_HUMAN		12	1811	+			B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	1	1	hg19	c.1570G>A	CCDS43564.1	0	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343682	0.61073	.	.	ENSG00000106105	ENST00000389266	D	0.85702	-2.02	5.65	5.65	0.86999	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.68952	2.095	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.78329	-0.2246	10	0.25751	T	0.34	-25.7312	17.5958	0.88011	0.0:0.0:1.0:0.0	.	524	P41250	SYG_HUMAN	K	524	ENSP00000373918:E524K	ENSP00000373918:E524K	E	+	1	0	0	GARS	30628560	30628560	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.783000	0.75078	2.836000	0.97738	0.655000	0.94253	GAG	0.118725		TCGA-H6-A45N-01A-11D-A26I-08	0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	1	2	2	2	2	0	0	0	0	113	113	113	113	1	2.030000	-3.122915	1	0.110000	NM_002047		0	42	42	0	1061	1053	0		1	1		0	0	113	0	0	1.000000	9.510365e-01	0	10	0	115	0	42	1061
MGAM	8972	broad.mit.edu	37	7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T	rs573145045	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:141759383C>T	ENST00000549489.2	+	32	4026	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000475668.2_Missense_Mutation_p.R1311W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				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)	TGATGGGATGCGGGTCATCCT	0.512													c|||	3	0.000599042	0.0	0.0043	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.0					ENST00000549489.2	1.000000	0.590000	1.000000	0.770000	0.990000	0.914907	0.990000	1.000000																										0				13						c.(3931-3933)Cgg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66.0	63.0	64.0					7																	141759383		2027	4187	6214	SO:0001583	missense	8972	5	120946	40				g.chr7:141759383C>T	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.3931C>T	chr7.hg19:g.141759383C>T	ENSP00000447378:p.Arg1311Trp	0					MGAM_ENST00000475668.2_Missense_Mutation_p.R1311W	p.R1311W	NM_004668.2	NP_004659.2	1	2	3	2.013976	O43451	MGA_HUMAN		32	4026	+	Melanoma(164;0.0272)		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	1	1	hg19	c.3931C>T	CCDS47727.1	1	.	.	.	.	.	.	.	.	.	.	c	15.79	2.938077	0.52972	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93859	-3.3	4.21	0.805	0.18703	4.21	0.805	0.18703	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97300	0.9117	H	0.96430	3.82	0.37421	D	0.913656	D	0.89917	1.0	D	0.87578	0.998	D	0.97840	1.0268	9	0.87932	D	0	.	11.2024	0.48749	0.5799:0.4201:0.0:0.0	.	1311	O43451	MGA_HUMAN	W	1311;1311;1188	ENSP00000447378:R1311W	ENSP00000316431:R1188W	R	+	1	2	2	MGAM	141405852	141405852	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.011000	0.29911	0.729000	0.32403	0.194000	0.17425	CGG	0.118725		TCGA-H6-A45N-01A-11D-A26I-08	0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3	1	0	1	2	2	2	2	0	0	0	0	61	61	61	64	1	2.030000	-3.008785	1	0.110000			0	17	17	0	310	298	0		1			0	0	61	0	0	0.999956	0	0	0	0	0	0	17	310
DLGAP2	9228	broad.mit.edu	37	8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	768					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTTTAAACGTTCTAACAG	0.557																																						ENST00000421627.2	1.000000	0.320000	1.000000	0.450000	0.630000	0.679162	0.630000	0.550000																										0				41						c.(2065-2067)Cgt>Tgt		discs, large (Drosophila) homolog-associated protein 2							50.0	54.0	52.0					8																	1626396		2077	4195	6272	SO:0001583	missense	9228	1	121000	31				g.chr8:1626396C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2065C>T	chr8.hg19:g.1626396C>T	ENSP00000400258:p.Arg689Cys	0						p.R689C	NM_004745.3	NP_004736.2	1	2	3	2.043533	Q9P1A6	DLGP2_HUMAN		9	2199	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	0	1	hg19	c.2065C>T	CCDS47760.1	0	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104697	0.77096	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22336	1.96	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60505	-0.7250	10	0.87932	D	0	-4.8866	17.9665	0.89100	0.0:1.0:0.0:0.0	.	754;768	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	C	720;689	ENSP00000400258:R689C	ENSP00000348366:R720C	R	+	1	0	0	DLGAP2	1613803	1613803	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	7.350000	0.79385	2.231000	0.72958	0.557000	0.71058	CGT	0.125393		TCGA-H6-A45N-01A-11D-A26I-08	0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	0	0	1	2	2	2	2	0	0	0	0	50	50	50	50	1	2.030000	-11.911440	1	0.110000	NM_004745		0	12	12	0	383	378	0		1			0	0	50	0	0	0.999078	0	0	0	0	0	0	12	383
UNC13B	10497	broad.mit.edu	37	9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	83					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCGCTGAAGACTATTCGTC	0.493																																						ENST00000378495.3	0.920000	0.450000	0.800000	0.550000	0.670000	0.684935	0.670000	0.670000																										0				63						c.(247-249)aaG>aaC		unc-13 homolog B (C. elegans)							305.0	261.0	276.0					9																	35236562		2203	4300	6503	SO:0001583	missense	10497	0	0					g.chr9:35236562G>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.249G>C	chr9.hg19:g.35236562G>C	ENSP00000367756:p.Lys83Asn	1					UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N	p.K83N	NM_006377.3	NP_006368.3	0	1	1	1.895247	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)	4	471	+	all_epithelial(49;0.212)		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	1	1	hg19	c.249G>C	CCDS6579.1	0	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897790	0.33535	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.70749	-0.51;-0.51;-0.51	5.21	3.33	0.38152	5.21	3.33	0.38152	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.256850	0.36893	N	0.002350	T	0.51805	0.1696	N	0.17474	0.49	0.40200	D	0.977502	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.48885	-0.8995	10	0.66056	D	0.02	-6.2976	7.8316	0.29347	0.1517:0.1359:0.7123:0.0	.	83;83;83	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	N	83	ENSP00000380006:K83N;ENSP00000367756:K83N;ENSP00000367757:K83N	ENSP00000367756:K83N	K	+	3	2	2	UNC13B	35226562	35226562	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.737000	0.26144	0.741000	0.32674	0.591000	0.81541	AAG	0.058201		TCGA-H6-A45N-01A-11D-A26I-08	0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	1	0	1	2	2	2	2	0	0	0	0	113	113	113	111	1	2.030000	-4.025389	1	0.110000	NM_006377		0	27	27	0	652	648	0		1	0		0	0	113	0	0	1.000000	4.104803e-02	0	1	0	7	0	27	652
SMARCA1	6594	broad.mit.edu	37	X	128599617	128599617	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	970	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATACAAATCAAGAATCTAT	0.363																																						ENST00000371122.4	0.720000	0.250000	0.590000	0.340000	0.450000	0.469413	0.450000	0.440000																										0				45						c.(2908-2910)ttG>ttA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							162.0	140.0	148.0					X																	128599617		2203	4300	6503	SO:0001819	synonymous_variant	6594	0	0					g.chrX:128599617C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2910G>A	chrX.hg19:g.128599617C>T							SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L	p.L970L	NM_003069.3	NP_003060.2	0	1	1		P28370	SMCA1_HUMAN		23	3039	-			Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	1	1	hg19	c.2910G>A	CCDS14612.1	0																																																																																								0.110000		TCGA-H6-A45N-01A-11D-A26I-08	0.363	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	0	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	2.030000	-3.456428	1	0.110000	NM_003069		0	13	13	0	519	516	0		1	0		0	0	32	0	0	0.999524	3.984842e-01	0	0	0	53	0	13	519
GPR112	139378	broad.mit.edu	37	X	135429571	135429571	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1236					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATCTGCCACATATCGTGT	0.473																																						ENST00000394143.1	0.990000	0.620000	0.900000	0.700000	0.790000	0.805581	0.790000	0.800000																										0				199						c.(3706-3708)Aca>Gca		G protein-coupled receptor 112							240.0	204.0	216.0					X																	135429571		2203	4300	6503	SO:0001583	missense	139378	0	0					g.chrX:135429571A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3706A>G	chrX.hg19:g.135429571A>G	ENSP00000377699:p.Thr1236Ala						GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A	p.T1236A	NM_153834.3	NP_722576.3	0	1	1		Q8IZF6	GP112_HUMAN		6	3997	+	Acute lymphoblastic leukemia(192;0.000127)		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	1	1	hg19	c.3706A>G	CCDS35409.1	0	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107852	0.37242	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.21;1.21;1.17;1.28;1.17	3.05	0.638	0.17742	3.05	0.638	0.17742	.	.	.	.	.	T	0.41811	0.1175	L	0.32530	0.975	0.09310	N	1	D;D;D	0.67145	0.99;0.996;0.993	D;D;D	0.75484	0.971;0.986;0.968	T	0.18935	-1.0321	9	0.87932	D	0	.	4.1682	0.10317	0.6502:0.0:0.3498:0.0	.	1173;1031;1236	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1236;1236;1031;1173;1031	ENSP00000377699:T1236A;ENSP00000359686:T1236A;ENSP00000416526:T1031A;ENSP00000287534:T1173A;ENSP00000377697:T1031A	ENSP00000287534:T1173A	T	+	1	0	0	GPR112	135257237	135257237	0.026000	0.19158	0.002000	0.10522	0.004000	0.04260	1.114000	0.31196	0.250000	0.21479	0.427000	0.28365	ACA	0.110000		TCGA-H6-A45N-01A-11D-A26I-08	0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	1	2	29	2	2	1	1	1	1	161	161	161	160	1	2.030000	-5.902686	1	0.110000			0	68	68	0	1477	1468	0		1			1	0	161	0	0	0.999984	0	0	0	0	0	0	68	1477
