#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PROSER3	148137	broad.mit.edu	37	19	36259088	36259088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:36259088C>G	ENST00000544099.1	+	10	1315	c.1252C>G	c.(1252-1254)Cgt>Ggt	p.R418G	C19orf55_ENST00000396908.4_Silent_p.P416P|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGACGATCCCGTGCTGCAGG	0.632																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(1252-1254)Cgt>Ggt		chromosome 19 open reading frame 55							32.0	38.0	36.0					19																	36259088		1966	4166	6132	SO:0001583	missense	148137							g.chr19:36259088C>G																												ENST00000544099.1:c.1252C>G	19.37:g.36259088C>G	ENSP00000467267:p.Arg418Gly					C19orf55_ENST00000396908.4_Silent_p.P416P	p.R418G			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1315	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		0					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.1252C>G																																																																																					0.632	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			4	35	0	0	0	1	0	4	35				
OBSCN	84033	broad.mit.edu	37	1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:228557666C>T	ENST00000422127.1	+	91	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A7621V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(22861-22863)gCc>gTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							70.0	72.0	71.0					1																	228557666		2037	4186	6223	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557666C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19991C>T	1.37:g.228557666C>T	ENSP00000409493:p.Ala6664Val					OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6664V	p.A7621V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			102	22936	+		Prostate(94;0.0405)	6664			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22862C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841748	0.51057	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66099	-0.19;-0.19	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57858	0.2082	L	0.33137	0.985	0.80722	D	1	P	0.48089	0.905	P	0.45794	0.493	T	0.63594	-0.6602	9	0.62326	D	0.03	.	16.174	0.81840	0.0:1.0:0.0:0.0	.	6664	Q5VST9	OBSCN_HUMAN	V	6664;4298	ENSP00000409493:A6664V;ENSP00000355668:A4298V	ENSP00000355668:A4298V	A	+	2	0	OBSCN	226624289	0.988000	0.35896	0.804000	0.32291	0.141000	0.21300	2.536000	0.45693	2.495000	0.84180	0.455000	0.32223	GCC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	124	0	0	0	1	0	4	124				
KCNB1	3745	broad.mit.edu	37	20	47990733	47990733	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr20:47990733G>A	ENST00000371741.4	-	2	1530	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	455					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AATGCTCCGGGCAAAAGCATC	0.458																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1363-1365)gCc>gTc		potassium voltage-gated channel, Shab-related subfamily, member 1							172.0	159.0	163.0					20																	47990733		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990733G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1364C>T	20.37:g.47990733G>A	ENSP00000360806:p.Ala455Val						p.A455V	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1530	-			455					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1364C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590162	0.66105	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96967	-4.19	5.77	5.77	0.91146	.	0.241259	0.40640	N	0.001044	D	0.97936	0.9321	M	0.75264	2.295	0.53005	D	0.999967	D	0.69078	0.997	D	0.66847	0.947	D	0.98162	1.0447	10	0.72032	D	0.01	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	455	Q14721	KCNB1_HUMAN	V	455;410	ENSP00000360806:A455V	ENSP00000360806:A455V	A	-	2	0	KCNB1	47424140	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.411000	0.59781	2.884000	0.98904	0.655000	0.94253	GCC		0.458	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		4	131	0	0	0	1	0	4	131				
MTOR	2475	broad.mit.edu	37	1	11199368	11199368	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:11199368G>A	ENST00000361445.4	-	36	5199	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1708	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GACCTTGCGGGCACTCTTCCA	0.507																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5122-5124)gCc>gTc		mechanistic target of rapamycin (serine/threonine kinase)							194.0	192.0	193.0					1																	11199368		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11199368G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5123C>T	1.37:g.11199368G>A	ENSP00000354558:p.Ala1708Val					MTOR_ENST00000495435.1_5'UTR	p.A1708V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			36	5199	-			1708			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5123C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748551	0.49257	.	.	ENSG00000198793	ENST00000361445	T	0.67171	-0.25	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.283502	0.40222	N	0.001158	T	0.58061	0.2096	N	0.19112	0.55	0.80722	D	1	B	0.19583	0.037	B	0.22152	0.038	T	0.54741	-0.8248	10	0.87932	D	0	-13.0658	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1708	P42345	MTOR_HUMAN	V	1708	ENSP00000354558:A1708V	ENSP00000354558:A1708V	A	-	2	0	MTOR	11121955	0.978000	0.34361	0.036000	0.18154	0.477000	0.33069	6.113000	0.71553	2.793000	0.96121	0.655000	0.94253	GCC		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	116	0	0	0	1	0	4	116				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	17	0	0	0	1	0	3	17				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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)	ENST00000311936.3	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		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""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)	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						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	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>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	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	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	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		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	8	0	0	0	1	0	14	8				
SLIT1	6585	broad.mit.edu	37	10	98761065	98761065	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:98761065A>G	ENST00000266058.4	-	37	4654	c.4409T>C	c.(4408-4410)gTc>gCc	p.V1470A	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1470	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCCCTCTGGACCTGGTGAAA	0.677																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4408-4410)gTc>gCc		slit homolog 1 (Drosophila)							44.0	53.0	50.0					10																	98761065		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761065A>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4409T>C	10.37:g.98761065A>G	ENSP00000266058:p.Val1470Ala					SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.V1470A	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4654	-		Colorectal(252;0.162)	1470			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4409T>C	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.671702|2.671702	0.47781|0.47781	.|.	.|.	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|T	0.81247|0.80909	-1.47|-1.43	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Cystine knot, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75946|0.75946	0.3919|0.3919	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P	.|0.38195	.|0.622	.|B	.|0.35182	.|0.197	T|T	0.74420|0.74420	-0.3671|-0.3671	7|10	0.66056|0.23302	D|T	0.02|0.38	.|.	15.0149|15.0149	0.71576|0.71576	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1470	.|O75093	.|SLIT1_HUMAN	P|A	1429|1470	ENSP00000360109:S1429P|ENSP00000266058:V1470A	ENSP00000360109:S1429P|ENSP00000266058:V1470A	S|V	-|-	1|2	0|0	SLIT1|SLIT1	98751055|98751055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.800000|2.800000	0.47900|0.47900	2.139000|2.139000	0.66308|0.66308	0.459000|0.459000	0.35465|0.35465	TCC|GTC		0.677	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		50	20	0	0	0	1	0	50	20				
UBA2	10054	broad.mit.edu	37	19	34936017	34936017	+	Silent	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:34936017T>C	ENST00000246548.4	+	8	832	c.762T>C	c.(760-762)ctT>ctC	p.L254L	UBA2_ENST00000439527.2_Silent_p.L158L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	254					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTTAAACTTTTTACCAAGG	0.328																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(472-474)ctT>ctC		ubiquitin-like modifier activating enzyme 2							77.0	79.0	78.0					19																	34936017		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34936017T>C	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.762T>C	19.37:g.34936017T>C						UBA2_ENST00000246548.4_Silent_p.L254L	p.L158L			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	972	+	Esophageal squamous(110;0.162)		254					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.474T>C	CCDS12439.1																																																																																				0.328	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		35	33	0	0	0	1	0	35	33				
SCN2B	6327	broad.mit.edu	37	11	118038953	118038953	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:118038953C>T	ENST00000278947.5	-	3	536	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	99	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGAACTCCACGCGGTCTTGA	0.542																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(295-297)Gtg>Atg		sodium channel, voltage-gated, type II, beta subunit							108.0	85.0	93.0					11																	118038953		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118038953C>T	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.295G>A	11.37:g.118038953C>T	ENSP00000278947:p.Val99Met						p.V99M	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	3	536	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	99			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.295G>A	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055732	0.75960	.	.	ENSG00000149575	ENST00000278947	D	0.95171	-3.63	4.9	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.87038	2.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.71870	0.975	D	0.96671	0.9496	10	0.87932	D	0	-15.5159	9.3694	0.38246	0.0:0.7726:0.1474:0.08	.	99	O60939	SCN2B_HUMAN	M	99	ENSP00000278947:V99M	ENSP00000278947:V99M	V	-	1	0	SCN2B	117544163	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.468000	0.66743	1.255000	0.44051	0.655000	0.94253	GTG		0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		34	4	0	0	0	1	0	34	4				
FASN	2194	broad.mit.edu	37	17	80040213	80040213	+	Silent	SNP	G	G	T	rs200041873		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:80040213G>T	ENST00000306749.2	-	35	6215	c.5997C>A	c.(5995-5997)acC>acA	p.T1999T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1999	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCAGGTTCAGGGTGCCGCTGT	0.632																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5995-5997)acC>acA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						68.0	69.0	69.0					17																	80040213		2203	4300	6503	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040213G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5997C>A	17.37:g.80040213G>T						FASN_ENST00000579758.1_5'UTR	p.T1999T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		35	6215	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1999			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5997C>A	CCDS11801.1																																																																																				0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		18	57	1	0	3.52763e-06	1	3.78894e-06	18	57				
LYZL2	119180	broad.mit.edu	37	10	30901770	30901770	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:30901770T>C	ENST00000375318.2	-	4	552	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	120					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTTGTGTCTCTTTAACA	0.418																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(496-498)Aca>Gca		lysozyme-like 2							134.0	111.0	119.0					10																	30901770		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30901770T>C	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.496A>G	10.37:g.30901770T>C	ENSP00000364467:p.Thr166Ala						p.T166A	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			4	552	-		Prostate(175;0.151)	120					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.496A>G	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752743	0.31046	.	.	ENSG00000151033	ENST00000375318	T	0.74315	-0.83	2.06	2.06	0.26882	.	0.219933	0.38605	N	0.001630	T	0.55114	0.1900	N	0.20685	0.6	0.26002	N	0.982108	B	0.20052	0.041	B	0.20955	0.032	T	0.50915	-0.8771	10	0.59425	D	0.04	-4.9869	6.0971	0.20027	0.0:0.0:0.0:1.0	.	166	Q7Z4W2-2	.	A	166	ENSP00000364467:T166A	ENSP00000364467:T166A	T	-	1	0	LYZL2	30941776	1.000000	0.71417	0.660000	0.29694	0.589000	0.36550	2.052000	0.41316	1.188000	0.43014	0.397000	0.26171	ACA		0.418	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		5	33	0	0	0	1	0	5	33				
TULP4	56995	broad.mit.edu	37	6	158923393	158923393	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:158923393G>T	ENST00000367097.3	+	13	4055	c.2698G>T	c.(2698-2700)Gtg>Ttg	p.V900L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	900					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGTGGAGGAGGTGTGCCGGCC	0.642																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2698-2700)Gtg>Ttg		tubby like protein 4							71.0	75.0	73.0					6																	158923393		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923393G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2698G>T	6.37:g.158923393G>T	ENSP00000356064:p.Val900Leu					TULP4_ENST00000367094.2_Intron	p.V900L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4055	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	900					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2698G>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673417	0.88445	.	.	ENSG00000130338	ENST00000367097	T	0.69561	-0.41	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.80377	-0.1408	10	0.87932	D	0	-23.3113	18.5327	0.90999	0.0:0.0:1.0:0.0	.	900	Q9NRJ4	TULP4_HUMAN	L	900	ENSP00000356064:V900L	ENSP00000356064:V900L	V	+	1	0	TULP4	158843381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.192000	0.77771	2.379000	0.81126	0.561000	0.74099	GTG		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		13	129	1	0	2.32078e-09	1	2.58857e-09	13	129				
CEP70	80321	broad.mit.edu	37	3	138290180	138290180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:138290180C>A	ENST00000264982.3	-	4	354	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	30					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTATGCTTTCCCATTCTGCT	0.328																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(88-90)Gaa>Taa		centrosomal protein 70kDa							76.0	74.0	75.0					3																	138290180		2201	4296	6497	SO:0001587	stop_gained	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138290180C>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.88G>T	3.37:g.138290180C>A	ENSP00000264982:p.Glu30*					CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*	p.E30*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			4	354	-			30					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	ENST00000264982.3	37	c.88G>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575152	0.65878	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	.	.	.	4.99	3.18	0.36537	.	0.114925	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.8388	6.762	0.23546	0.0:0.7271:0.1783:0.0946	.	.	.	.	X	30;10;30;12;30;9;10;30;30	.	ENSP00000264982:E30X	E	-	1	0	CEP70	139772870	1.000000	0.71417	0.990000	0.47175	0.253000	0.25986	2.597000	0.46214	0.675000	0.31264	-0.882000	0.02950	GAA		0.328	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		3	27	1	0	0.115264	1	0.117286	3	27				
SCN3A	6328	broad.mit.edu	37	2	165969452	165969452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:165969452A>T	ENST00000360093.3	-	21	4277	c.3786T>A	c.(3784-3786)taT>taA	p.Y1262*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1262					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGAAATCCATAAGCAACCC	0.318																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3784-3786)taT>taA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						174.0	192.0	186.0					2																	165969452		2203	4297	6500	SO:0001587	stop_gained	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165969452A>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3786T>A	2.37:g.165969452A>T	ENSP00000353206:p.Tyr1262*					SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*	p.Y1262*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			21	4277	-			1262					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37	c.3786T>A		.	.	.	.	.	.	.	.	.	.	A	46	12.817879	0.99698	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	5.62	5.62	0.85841	.	0.000000	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8159	0.78599	1.0:0.0:0.0:0.0	.	.	.	.	X	1262;1262;1213;1213	.	ENSP00000283254:Y1262X	Y	-	3	2	SCN3A	165677698	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.406000	0.44557	2.133000	0.65898	0.482000	0.46254	TAT		0.318	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		114	112	0	0	0	1	0	114	112				
PLCXD3	345557	broad.mit.edu	37	5	41382479	41382479	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:41382479C>A	ENST00000377801.3	-	2	335	c.261G>T	c.(259-261)caG>caT	p.Q87H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	87	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCTCCTAGCTGGCCAGTAA	0.443																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(259-261)caG>caT		phosphatidylinositol-specific phospholipase C, X domain containing 3							60.0	65.0	64.0					5																	41382479		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382479C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.261G>T	5.37:g.41382479C>A	ENSP00000367032:p.Gln87His					PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H	p.Q87H			Q63HM9	PLCX3_HUMAN			2	335	-			87			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.261G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591246	0.66219	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.64618	-0.11;-0.11	6.07	5.21	0.72293	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	H	0.95004	3.61	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	D	0.89027	0.3439	10	0.87932	D	0	-10.1406	15.1361	0.72566	0.0:0.9327:0.0:0.0673	.	87	Q63HM9	PLCX3_HUMAN	H	87	ENSP00000367032:Q87H;ENSP00000333751:Q87H	ENSP00000333751:Q87H	Q	-	3	2	PLCXD3	41418236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.837000	0.27558	1.571000	0.49722	0.655000	0.94253	CAG		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		16	56	1	0	6.72482e-11	1	7.96e-11	16	56				
CRYGC	1420	broad.mit.edu	37	2	208994374	208994374	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:208994374G>C	ENST00000282141.3	-	2	80	c.43C>G	c.(43-45)Cgc>Ggc	p.R15G		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	15	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCGTAGCTGCGGCCCTGGAAG	0.522																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(43-45)Cgc>Ggc		crystallin, gamma C							129.0	141.0	137.0					2																	208994374		2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994374G>C		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.43C>G	2.37:g.208994374G>C	ENSP00000282141:p.Arg15Gly						p.R15G	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	80	-			15			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.43C>G	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602811	0.66445	.	.	ENSG00000163254	ENST00000282141	T	0.78246	-1.16	4.98	4.98	0.66077	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.98542	4.26	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	D	0.95220	0.8333	10	0.87932	D	0	.	16.1101	0.81259	0.0:0.0:1.0:0.0	.	15	P07315	CRGC_HUMAN	G	15	ENSP00000282141:R15G	ENSP00000282141:R15G	R	-	1	0	CRYGC	208702619	0.997000	0.39634	1.000000	0.80357	0.338000	0.28826	4.785000	0.62418	2.468000	0.83385	0.462000	0.41574	CGC		0.522	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		6	306	0	0	0	1	0	6	306				
PLCL2	23228	broad.mit.edu	37	3	17051510	17051510	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:17051510G>T	ENST00000418129.2	+	2	759	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	224					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E98D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATATGGAGAGAATTATGAGT	0.418																																						ENST00000418129.2																			1	Substitution - Missense(1)	p.E98D(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(292-294)gaG>gaT		phospholipase C-like 2							121.0	121.0	121.0					3																	17051510		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051510G>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.294G>T	3.37:g.17051510G>T	ENSP00000409637:p.Glu98Asp					PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D	p.E98D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	759	+			224					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.294G>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226413	0.01518	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.61510	0.1;0.1;0.1	5.33	1.98	0.26296	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.045321	0.85682	D	0.000000	T	0.31918	0.0812	.	.	.	0.45867	D	0.998722	B;B	0.06786	0.001;0.001	B;B	0.12156	0.005;0.007	T	0.05338	-1.0891	9	0.10111	T	0.7	.	5.2822	0.15682	0.368:0.0:0.5014:0.1305	.	224;98	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	D	98;225;98;98	ENSP00000409637:E98D;ENSP00000379979:E98D;ENSP00000412836:E98D	ENSP00000285094:E225D	E	+	3	2	PLCL2	17026514	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.019000	0.30014	0.402000	0.25451	-0.258000	0.10820	GAG		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			16	87	1	0	1.15088e-07	1	1.25945e-07	16	87				
CNTNAP1	8506	broad.mit.edu	37	17	40839788	40839788	+	Silent	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40839788C>T	ENST00000264638.4	+	8	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	365					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATCAACTTCGGAGGCCCTC	0.617																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1093-1095)ttC>ttT		contactin associated protein 1							131.0	114.0	120.0					17																	40839788		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839788C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1095C>T	17.37:g.40839788C>T						CTD-3193K9.3_ENST00000592440.1_RNA	p.F365F	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1312	+		Breast(137;0.000143)	365						Silent	SNP	ENST00000264638.4	37	c.1095C>T	CCDS11436.1																																																																																				0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		66	5	0	0	0	1	0	66	5				
FBXO30	84085	broad.mit.edu	37	6	146127324	146127324	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:146127324C>T	ENST00000237281.4	-	2	384	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	73							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTTTATTTCGGGCCATGGT	0.418																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(217-219)cGa>cAa		F-box protein 30							234.0	217.0	223.0					6																	146127324		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127324C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.218G>A	6.37:g.146127324C>T	ENSP00000237281:p.Arg73Gln						p.R73Q	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	384	-		Ovarian(120;0.0776)	73					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.218G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471356	0.84533	.	.	ENSG00000118496	ENST00000237281	T	0.29397	1.57	5.67	5.67	0.87782	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61603	-0.7029	10	0.87932	D	0	-10.9501	19.7586	0.96304	0.0:1.0:0.0:0.0	.	73	Q8TB52	FBX30_HUMAN	Q	73	ENSP00000237281:R73Q	ENSP00000237281:R73Q	R	-	2	0	FBXO30	146169017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.663000	0.90544	0.585000	0.79938	CGA		0.418	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			106	105	0	0	0	1	0	106	105				
NCDN	23154	broad.mit.edu	37	1	36023792	36023792	+	Start_Codon_SNP	SNP	A	A	G	rs141726468		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:36023792A>G	ENST00000373243.2	+	1	384	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	NCDN_ENST00000373253.3_Intron|KIAA0319L_ENST00000325722.3_5'Flank|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Start_Codon_SNP_p.M1V	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	1					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTTCATCAATGTCGTGTTG	0.587																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1-3)Atg>Gtg		neurochondrin		A	VAL/MET,,VAL/MET	0,4406		0,0,2203	193.0	150.0	165.0		1,,1	3.6	1.0	1	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	NCDN	NM_001014839.1,NM_001014841.1,NM_014284.2	21,,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,,benign	1/730,,1/730	36023792	1,13005	2203	4300	6503	SO:0001582	initiator_codon_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36023792A>G	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1A>G	1.37:g.36023792A>G	ENSP00000362340:p.Met1Val					NCDN_ENST00000356090.4_Start_Codon_SNP_p.M1V|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Intron	p.M1V	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			1	384	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Translation_Start_Site	SNP	ENST00000373243.2	37	c.1A>G	CCDS392.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560179	0.27827	0.0	1.16E-4	ENSG00000020129	ENST00000356090;ENST00000373243	.	.	.	4.68	3.57	0.40892	.	0.580077	0.18007	N	0.154694	T	0.45175	0.1329	.	.	.	0.42527	D	0.993028	B	0.12630	0.006	B	0.17722	0.019	T	0.49762	-0.8905	8	0.59425	D	0.04	.	6.4058	0.21664	0.8924:0.0:0.1076:0.0	.	1	Q9UBB6	NCDN_HUMAN	V	1	.	ENSP00000348394:M1V	M	+	1	0	NCDN	35796379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.414000	0.44627	2.091000	0.63221	0.459000	0.35465	ATG		0.587	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	Missense_Mutation	98	5	0	0	0	1	0	98	5				
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502																																						ENST00000352083.6																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(364-366)Cgc>Tgc		SRY (sex determining region Y)-box 6							196.0	183.0	187.0					11																	16340073		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340073G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.364C>T	11.37:g.16340073G>A	ENSP00000339876:p.Arg122Cys					SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C	p.R122C			P35712	SOX6_HUMAN			3	441	-			122					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.126131	0.94429	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	D;D;D;D;D;D	0.98947	-5.26;-5.22;-5.26;-4.94;-4.94;-5.22	5.28	5.28	0.74379	.	0.063248	0.64402	D	0.000006	D	0.99067	0.9680	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.995	D	0.99875	1.1102	10	0.87932	D	0	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	122;122;122;122;125	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	C	122;122;122;122;125;122;122;122	ENSP00000324948:R122C;ENSP00000339876:R122C;ENSP00000379644:R122C;ENSP00000432134:R122C;ENSP00000434455:R125C;ENSP00000433233:R122C	ENSP00000324948:R122C	R	-	1	0	SOX6	16296649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.341000	0.97041	2.632000	0.89209	0.591000	0.81541	CGC		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		88	6	0	0	0	1	0	88	6				
FAM102B	284611	broad.mit.edu	37	1	109171385	109171385	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:109171385T>A	ENST00000370035.3	+	9	1269	c.929T>A	c.(928-930)aTa>aAa	p.I310K	FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	310										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTAGAGAAAATATTACAAAGT	0.408																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(928-930)aTa>aAa		family with sequence similarity 102, member B							89.0	80.0	83.0					1																	109171385		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109171385T>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.929T>A	1.37:g.109171385T>A	ENSP00000359052:p.Ile310Lys					FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	p.I310K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	9	1269	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	310					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.929T>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926630	0.92319	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.61274	0.12;0.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79130	-0.1930	10	0.87932	D	0	-21.8579	16.2421	0.82418	0.0:0.0:0.0:1.0	.	310	Q5T8I3	F102B_HUMAN	K	310	ENSP00000359052:I310K;ENSP00000386084:I310K	ENSP00000359052:I310K	I	+	2	0	FAM102B	108972908	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	ATA		0.408	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		21	39	0	0	0	1	0	21	39				
CYB5D2	124936	broad.mit.edu	37	17	4058097	4058097	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:4058097C>T	ENST00000301391.3	+	3	1021	c.521C>T	c.(520-522)cCg>cTg	p.P174L	CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	174					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ACATTCCCGCCGTGCAACGCG	0.612																																						ENST00000301391.3																			0				breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						c.(520-522)cCg>cTg		cytochrome b5 domain containing 2							51.0	51.0	51.0					17																	4058097		2203	4300	6503	SO:0001583	missense	124936				nervous system development	extracellular region	heme binding	g.chr17:4058097C>T	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.521C>T	17.37:g.4058097C>T	ENSP00000301391:p.Pro174Leu					CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L	p.P174L	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN			3	1021	+			174					B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	c.521C>T	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164538	0.57476	.	.	ENSG00000167740	ENST00000301391	T	0.77877	-1.13	5.74	5.74	0.90152	.	0.176609	0.50627	D	0.000106	T	0.80798	0.4692	M	0.85542	2.76	0.80722	D	1	D	0.56287	0.975	B	0.39660	0.306	D	0.85420	0.1142	10	0.72032	D	0.01	-16.2388	18.4818	0.90815	0.0:1.0:0.0:0.0	.	174	Q8WUJ1	NEUFC_HUMAN	L	174	ENSP00000301391:P174L	ENSP00000301391:P174L	P	+	2	0	CYB5D2	4004846	0.451000	0.25705	0.206000	0.23566	0.027000	0.11550	4.286000	0.58995	2.716000	0.92895	0.561000	0.74099	CCG		0.612	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		34	2	0	0	0	1	0	34	2				
DLGAP2	9228	broad.mit.edu	37	8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	rs34274599		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					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)		TTCTAACAGCGTCACGGCCGC	0.557																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2077-2079)Gtc>Atc		discs, large (Drosophila) homolog-associated protein 2							53.0	58.0	56.0					8																	1626408		2091	4193	6284	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626408G>A	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.2077G>A	8.37:g.1626408G>A	ENSP00000400258:p.Val693Ile						p.V693I	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2211	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	772					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2077G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077811	0.94000	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.20738	2.05	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.81942	2.565	0.48135	D	0.999596	D;D	0.76494	0.999;0.999	D;D	0.72075	0.96;0.976	T	0.57619	-0.7780	10	0.72032	D	0.01	-13.8981	17.9665	0.89100	0.0:0.0:1.0:0.0	rs34274599	758;772	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	I	724;693	ENSP00000400258:V693I	ENSP00000348366:V724I	V	+	1	0	DLGAP2	1613815	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	9.260000	0.95568	2.231000	0.72958	0.557000	0.71058	GTC		0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		24	78	0	0	0	1	0	24	78				
TNMD	64102	broad.mit.edu	37	X	99852508	99852508	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:99852508A>G	ENST00000373031.4	+	5	648	c.431A>G	c.(430-432)gAa>gGa	p.E144G	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	144	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGAATGAAGAAATTACCACA	0.358																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(430-432)gAa>gGa		tenomodulin							64.0	61.0	62.0					X																	99852508		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99852508A>G	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.431A>G	X.37:g.99852508A>G	ENSP00000362122:p.Glu144Gly					TNMD_ENST00000485971.1_3'UTR	p.E144G	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN			5	648	+			144			BRICHOS.		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.431A>G	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248892	0.39797	.	.	ENSG00000000005	ENST00000373031	T	0.78707	-1.2	5.98	4.75	0.60458	BRICHOS (2);	0.361069	0.31188	N	0.008098	T	0.70518	0.3233	L	0.44542	1.39	0.50632	D	0.999885	P	0.38300	0.626	B	0.37650	0.255	T	0.72984	-0.4125	10	0.51188	T	0.08	-31.7208	11.9047	0.52703	0.8568:0.1432:0.0:0.0	.	144	Q9H2S6	TNMD_HUMAN	G	144	ENSP00000362122:E144G	ENSP00000362122:E144G	E	+	2	0	TNMD	99739164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.719000	0.47244	2.002000	0.58637	0.486000	0.48141	GAA		0.358	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		20	19	0	0	0	1	0	20	19				
NPAS4	266743	broad.mit.edu	37	11	66191699	66191699	+	Silent	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66191699C>G	ENST00000311034.2	+	7	1514	c.1338C>G	c.(1336-1338)acC>acG	p.T446T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	446					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTTCCAGACCCATTTGCCCA	0.557																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1336-1338)acC>acG		neuronal PAS domain protein 4							191.0	189.0	189.0					11																	66191699		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191699C>G	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1338C>G	11.37:g.66191699C>G							p.T446T	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1514	+			446					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1338C>G	CCDS8138.1																																																																																				0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		17	179	0	0	0	1	0	17	179				
AREG	374	broad.mit.edu	37	4	75312484	75312484	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr4:75312484G>C	ENST00000395748.3	+	2	507	c.295G>C	c.(295-297)Gat>Cat	p.D99H	AREG_ENST00000502307.1_Missense_Mutation_p.D99H|AREG_ENST00000264487.2_Missense_Mutation_p.D99H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	99					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			CTATATTGTCGATGATTCAGT	0.448																																						ENST00000395748.3																			0				lung(4)	4						c.(295-297)Gat>Cat		amphiregulin							113.0	128.0	123.0					4																	75312484		2200	4298	6498	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312484G>C	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.295G>C	4.37:g.75312484G>C	ENSP00000379097:p.Asp99His					AREG_ENST00000502307.1_Missense_Mutation_p.D99H|AREG_ENST00000264487.2_Missense_Mutation_p.D99H	p.D99H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	Lung(101;0.196)		2	507	+			99					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.295G>C	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846514	0.51164	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.17528	2.27;2.27;2.44	5.23	5.23	0.72850	.	0.389678	0.28659	N	0.014570	T	0.42607	0.1210	M	0.76574	2.34	0.37372	D	0.91166	D	0.89917	1.0	D	0.91635	0.999	T	0.48681	-0.9014	10	0.72032	D	0.01	-37.9977	14.6651	0.68901	0.0:0.0:1.0:0.0	.	99	P15514	AREG_HUMAN	H	99	ENSP00000379097:D99H;ENSP00000264487:D99H;ENSP00000421414:D99H	ENSP00000264487:D99H	D	+	1	0	AREG	75531348	1.000000	0.71417	0.969000	0.41365	0.377000	0.30045	5.215000	0.65241	2.602000	0.87976	0.557000	0.71058	GAT		0.448	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			33	108	0	0	0	1	0	33	108				
TMEM5	10329	broad.mit.edu	37	12	64173847	64173847	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:64173847C>G	ENST00000261234.6	+	1	265	c.107C>G	c.(106-108)cCg>cGg	p.P36R	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	36						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		cgccaggcgccggccgggtcc	0.716																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(106-108)cCg>cGg		transmembrane protein 5							15.0	17.0	17.0					12																	64173847		2193	4278	6471	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64173847C>G	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.107C>G	12.37:g.64173847C>G	ENSP00000261234:p.Pro36Arg					RP11-415I12.3_ENST00000509615.2_RNA	p.P36R	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	265	+		Myeloproliferative disorder(1001;0.0255)	36					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.107C>G	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	6.680	0.493977	0.12702	.	.	ENSG00000118600	ENST00000261234	T	0.29397	1.57	3.39	1.48	0.22813	.	0.379952	0.25708	N	0.028823	T	0.12732	0.0309	N	0.11427	0.14	0.09310	N	0.999991	B	0.30914	0.3	B	0.31547	0.132	T	0.18524	-1.0334	9	.	.	.	-16.7751	4.5572	0.12141	0.2145:0.6665:0.0:0.119	.	36	Q9Y2B1	TMEM5_HUMAN	R	36	ENSP00000261234:P36R	.	P	+	2	0	TMEM5	62460114	0.001000	0.12720	0.001000	0.08648	0.527000	0.34593	0.774000	0.26675	0.406000	0.25560	0.462000	0.41574	CCG		0.716	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		8	12	0	0	0	1	0	8	12				
ABCA13	154664	broad.mit.edu	37	7	48411971	48411971	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:48411971A>G	ENST00000435803.1	+	33	11034	c.11010A>G	c.(11008-11010)gcA>gcG	p.A3670A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3670					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGAGTGCATTTTTCAGCC	0.423																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11008-11010)gcA>gcG		ATP-binding cassette, sub-family A (ABC1), member 13							252.0	243.0	246.0					7																	48411971		2009	4196	6205	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411971A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11010A>G	7.37:g.48411971A>G							p.A3670A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	11034	+			3670					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11010A>G	CCDS47584.1																																																																																				0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		89	96	0	0	0	1	0	89	96				
CD300A	11314	broad.mit.edu	37	17	72473654	72473654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:72473654C>T	ENST00000360141.3	+	4	901	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	205					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAGGATGTTTCAGAAATGGAT	0.597																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(613-615)Cag>Tag		CD300a molecule							97.0	77.0	84.0					17																	72473654		2203	4300	6503	SO:0001587	stop_gained	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72473654C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.613C>T	17.37:g.72473654C>T	ENSP00000353259:p.Gln205*					CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*	p.Q205*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			4	901	+			205					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Nonsense_Mutation	SNP	ENST00000360141.3	37	c.613C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135673	0.37728	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	.	.	.	3.94	-0.72	0.11195	.	2.911800	0.01535	N	0.018957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	0.8053	0.01083	0.1914:0.3995:0.1867:0.2223	.	.	.	.	X	205;92;92	.	ENSP00000308188:Q92X	Q	+	1	0	CD300A	69985249	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.179000	0.09768	0.033000	0.15463	-0.362000	0.07510	CAG		0.597	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		21	55	0	0	0	1	0	21	55				
FAM92B	339145	broad.mit.edu	37	16	85143873	85143873	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:85143873C>G	ENST00000539556.1	-	2	369	c.214G>C	c.(214-216)Gct>Cct	p.A72P		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	72										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGGTCCTCAGCGAAGCCCCTC	0.667																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(214-216)Gct>Cct		family with sequence similarity 92, member B							47.0	51.0	50.0					16																	85143873		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85143873C>G		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.214G>C	16.37:g.85143873C>G	ENSP00000443411:p.Ala72Pro						p.A72P	NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			2	369	-			72						Missense_Mutation	SNP	ENST00000539556.1	37	c.214G>C	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607180	0.87157	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.52983	0.64	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	T	0.72755	0.3500	M	0.85197	2.74	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.77319	-0.2632	10	0.87932	D	0	-24.6175	16.8584	0.86011	0.0:1.0:0.0:0.0	.	72	Q6ZTR7	FA92B_HUMAN	P	72	ENSP00000443411:A72P	ENSP00000376937:A72P	A	-	1	0	FAM92B	83701374	0.999000	0.42202	0.219000	0.23793	0.663000	0.39108	4.313000	0.59160	2.582000	0.87167	0.561000	0.74099	GCT		0.667	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		21	17	0	0	0	1	0	21	17				
GABRA6	2559	broad.mit.edu	37	5	161128593	161128593	+	Silent	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:161128593G>T	ENST00000274545.5	+	9	1609	c.1176G>T	c.(1174-1176)acG>acT	p.T392T	GABRA6_ENST00000523217.1_Silent_p.T382T			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	392					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTGCTCACGAGAGCGCCCA	0.463										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1144-1146)acG>acT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	106.0	108.0					5																	161128593		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128593G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1176G>T	5.37:g.161128593G>T		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.T392T	p.T382T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1388	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	392					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1146G>T	CCDS4356.1																																																																																				0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			9	90	1	0	9.70103e-10	1	1.10325e-09	9	90				
ANK1	286	broad.mit.edu	37	8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:41530024C>A	ENST00000347528.4	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000396942.1_Missense_Mutation_p.E1648D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGCAGCTTCTCTTCTGACC	0.537																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4942-4944)gaG>gaT		ankyrin 1, erythrocytic							238.0	217.0	224.0					8																	41530024		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530024C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4944G>T	8.37:g.41530024C>A	ENSP00000339620:p.Glu1648Asp					ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	p.E1648D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5027	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1648			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4944G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266106	0.80358	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.202601	0.32401	N	0.006152	T	0.15262	0.0368	N	0.08118	0	0.27895	N	0.939179	P;B;P;B	0.41848	0.739;0.435;0.763;0.417	B;B;B;B	0.38500	0.275;0.073;0.153;0.215	T	0.09997	-1.0649	10	0.18710	T	0.47	.	11.7187	0.51670	0.0:0.9191:0.0:0.0809	.	1689;1648;1648;1648	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	D	1648;1648;1648;1648;1648;1648;1689	ENSP00000339620:E1648D;ENSP00000289734:E1648D;ENSP00000369082:E1648D;ENSP00000380149:E1648D;ENSP00000380147:E1648D;ENSP00000309131:E1648D;ENSP00000265709:E1689D	ENSP00000265709:E1689D	E	-	3	2	ANK1	41649181	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.413000	0.44618	2.635000	0.89317	0.552000	0.68991	GAG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		9	304	1	0	0.00448238	1	0.00464247	9	304				
POTEA	340441	broad.mit.edu	37	8	43147752	43147752	+	RNA	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:43147752A>T	ENST00000522175.2	+	0	127							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAAGAACAACATGGGTGCT	0.607																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							61.0	65.0	63.0					8																	43147752		2203	4300	6503			340441							g.chr8:43147752A>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147752A>T										Q6S8J7	POTEA_HUMAN			0	127	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.607	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		8	123	0	0	0	1	0	8	123				
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(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						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	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.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	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.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	2	0	0	0	1	0	43	2				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	51	0	0	0	1	0	3	51				
ASH2L	9070	broad.mit.edu	37	8	37993284	37993284	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:37993284G>A	ENST00000343823.6	+	14	2028	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	ASH2L_ENST00000545394.1_Splice_Site_p.T434T|ASH2L_ENST00000428278.2_Splice_Site_p.T479T|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000250635.7_Intron	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	573	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGAGCTGCACGGTACGTACAT	0.423																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.e14+1		ash2 (absent, small, or homeotic)-like (Drosophila)							61.0	60.0	60.0					8																	37993284		2203	4300	6503	SO:0001630	splice_region_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37993284G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1719+1G>A	8.37:g.37993284G>A						ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Splice_Site_p.T434_splice|ASH2L_ENST00000428278.2_Splice_Site_p.T479_splice	p.T573_splice	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			14	2028	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	573			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Splice_Site	SNP	ENST00000343823.6	37	c.1719_splice	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194190	0.38707	.	.	ENSG00000129691	ENST00000524247	.	.	.	5.88	3.99	0.46301	.	.	.	.	.	T	0.56529	0.1991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53732	-0.8397	4	.	.	.	.	7.199	0.25871	0.1397:0.0:0.7222:0.1381	.	.	.	.	S	169	.	.	G	+	1	0	ASH2L	38112441	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.935000	0.40173	1.488000	0.48433	0.655000	0.94253	GGT		0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	Silent	12	27	0	0	0	1	0	12	27				
TRPV4	59341	broad.mit.edu	37	12	110246256	110246256	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:110246256G>A	ENST00000418703.2	-	2	498	c.404C>T	c.(403-405)cCc>cTc	p.P135L	TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L|TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	135					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCTTTGGGGCTCTGCGG	0.647																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(403-405)cCc>cTc		transient receptor potential cation channel, subfamily V, member 4							31.0	33.0	32.0					12																	110246256		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246256G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.404C>T	12.37:g.110246256G>A	ENSP00000406191:p.Pro135Leu					TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L	p.P135L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			2	498	-			135					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.404C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	g	12.17	1.857513	0.32791	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89123	-2.43;-2.43;-2.25;-2.47;-2.25;-2.47;-2.25;-2.43	3.66	2.73	0.32206	.	0.706131	0.12399	U	0.472252	T	0.75903	0.3913	N	0.08118	0	0.27773	N	0.943423	B;B;B;B;B	0.18461	0.028;0.013;0.0;0.022;0.022	B;B;B;B;B	0.15484	0.013;0.004;0.0;0.008;0.008	T	0.64859	-0.6308	10	0.27082	T	0.32	-28.8619	9.5606	0.39366	0.11:0.0:0.89:0.0	.	135;135;135;135;101	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	135;135;135;135;135;135;135;101	ENSP00000406191:P135L;ENSP00000261740:P135L;ENSP00000376480:P135L;ENSP00000319003:P135L;ENSP00000443611:P135L;ENSP00000442738:P135L;ENSP00000442167:P135L;ENSP00000444336:P101L	ENSP00000261740:P135L	P	-	2	0	TRPV4	108730639	0.941000	0.31946	1.000000	0.80357	0.971000	0.66376	1.343000	0.33930	1.780000	0.52325	0.459000	0.35465	CCC		0.647	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		23	14	0	0	0	1	0	23	14				
NME1	4830	broad.mit.edu	37	17	49237345	49237345	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:49237345C>T	ENST00000393196.3	+	3	262	c.131C>T	c.(130-132)tCc>tTc	p.S44F	NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000511355.1_Missense_Mutation_p.S44F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F|NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.S69F|NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.S44F	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	44					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GAATAGGCTTCCGAAGATCTT	0.463																																					GBM(176;1298 2890 6639 30062)	ENST00000511355.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(130-132)tCc>tTc		NME/NM23 nucleoside diphosphate kinase 1							152.0	138.0	143.0					17																	49237345		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49237345C>T	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.131C>T	17.37:g.49237345C>T	ENSP00000376892:p.Ser44Phe					NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F|NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000393196.3_Missense_Mutation_p.S44F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F	p.S44F					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		3	217	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.131C>T	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131469	0.56828	.	.	ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000393196;ENST00000336097;ENST00000480143;ENST00000511355;ENST00000013034;ENST00000376392;ENST00000555572;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.45	5.45	0.79879	.	.	.	.	.	D	0.94089	0.8105	H	0.98295	4.195	0.54753	D	0.999985	D;D;P;D	0.89917	0.995;1.0;0.75;0.998	D;D;B;D	0.68353	0.924;0.957;0.272;0.937	D	0.96052	0.9032	9	0.87932	D	0	-8.5278	19.6385	0.95748	0.0:1.0:0.0:0.0	.	69;69;44;69	E7ERL0;Q32Q12;P15531;P15531-2	.;.;NDKA_HUMAN;.	F	44;69;69;44;69;44;69;44;69	ENSP00000376892:S44F;ENSP00000337060:S69F;ENSP00000429318:S69F;ENSP00000428553:S44F;ENSP00000013034:S69F;ENSP00000365572:S44F;ENSP00000451932:S69F;ENSP00000376889:S44F	ENSP00000013034:S69F	S	+	2	0	NME2;NME1-NME2;NME1	46592344	0.998000	0.40836	0.998000	0.56505	0.057000	0.15508	4.835000	0.62781	2.703000	0.92315	0.655000	0.94253	TCC		0.463	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		59	152	0	0	0	1	0	59	152				
MRPL11	65003	broad.mit.edu	37	11	66204693	66204693	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66204693C>T	ENST00000310999.7	-	4	448	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K|MRPL11_ENST00000524576.1_5'UTR	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	119					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGGGCAATCTCATACACATGC	0.567																																						ENST00000310999.7																			0				endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						c.(355-357)Gag>Aag		mitochondrial ribosomal protein L11							101.0	93.0	96.0					11																	66204693		2200	4295	6495	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66204693C>T	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.355G>A	11.37:g.66204693C>T	ENSP00000308897:p.Glu119Lys					MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K|MRPL11_ENST00000524576.1_5'UTR	p.E119K	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN			4	448	-			119					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.355G>A	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254294	0.95336	.	.	ENSG00000174547	ENST00000310999;ENST00000430466;ENST00000528272;ENST00000329819	.	.	.	5.79	5.79	0.91817	Ribosomal protein L11, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	0.99;0.992;1.0	D;D;D	0.91635	0.959;0.976;0.999	T	0.77523	-0.2556	9	0.87932	D	0	-32.8538	17.5412	0.87848	0.0:1.0:0.0:0.0	.	93;119;119	Q9Y3B7-2;Q9Y3B7;A6NLT0	.;RM11_HUMAN;.	K	119;93;1;119	.	ENSP00000308897:E119K	E	-	1	0	MRPL11	65961269	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.813000	0.62620	2.722000	0.93159	0.655000	0.94253	GAG		0.567	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		37	0	0	0	0	1	0	37	0				
GRM3	2913	broad.mit.edu	37	7	86468807	86468807	+	Silent	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:86468807G>A	ENST00000361669.2	+	4	3076	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000546348.1_Silent_p.L251L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	659					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACTCAGCCCTGCTGACCAAGA	0.527																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1975-1977)ctG>ctA		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						148.0	134.0	139.0					7																	86468807		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468807G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1977G>A	7.37:g.86468807G>A						GRM3_ENST00000546348.1_Silent_p.L251L|GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	p.L659L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3076	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		659					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1977G>A	CCDS5600.1																																																																																				0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			99	88	0	0	0	1	0	99	88				
SLC10A5	347051	broad.mit.edu	37	8	82606828	82606828	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:82606828T>C	ENST00000518568.1	-	1	1581	c.380A>G	c.(379-381)aAa>aGa	p.K127R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	127						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTCTTTTTGTTTGAGCACTTT	0.353																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(379-381)aAa>aGa		solute carrier family 10, member 5							140.0	131.0	134.0					8																	82606828		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606828T>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.380A>G	8.37:g.82606828T>C	ENSP00000428612:p.Lys127Arg						p.K127R	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1581	-			127					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.380A>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	1.131	-0.652297	0.03480	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-4.64	0.03349	.	2.031170	0.02395	N	0.080050	T	0.03011	0.0089	N	0.02539	-0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42899	-0.9424	10	0.06494	T	0.89	-4.4111	9.3935	0.38388	0.0:0.5332:0.1343:0.3325	.	127	Q5PT55	NTCP5_HUMAN	R	127	ENSP00000428612:K127R	ENSP00000428612:K127R	K	-	2	0	SLC10A5	82769383	0.000000	0.05858	0.000000	0.03702	0.535000	0.34838	-0.456000	0.06754	-0.860000	0.04099	-0.264000	0.10439	AAA		0.353	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		27	40	0	0	0	1	0	27	40				
SOWAHA	134548	broad.mit.edu	37	5	132150842	132150842	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:132150842C>A	ENST00000378693.2	+	1	1810	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	510																	AGCGCCTCGCCCATGGCTCCA	0.582																																						ENST00000378693.2																			0											c.(1528-1530)cCc>cAc		sosondowah ankyrin repeat domain family member A							43.0	48.0	47.0					5																	132150842		2203	4300	6503	SO:0001583	missense	134548							g.chr5:132150842C>A	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1529C>A	5.37:g.132150842C>A	ENSP00000367965:p.Pro510His						p.P510H	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1810	+			510					Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	c.1529C>A	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742445	0.69418	.	.	ENSG00000198944	ENST00000378693	T	0.25414	1.8	6.15	6.15	0.99193	.	0.552403	0.16129	N	0.228298	T	0.53012	0.1770	M	0.62723	1.935	0.39876	D	0.973574	D	0.89917	1.0	D	0.75484	0.986	T	0.48281	-0.9049	10	0.72032	D	0.01	-26.3032	20.4338	0.99088	0.0:1.0:0.0:0.0	.	510	Q2M3V2	ANR43_HUMAN	H	510	ENSP00000367965:P510H	ENSP00000367965:P510H	P	+	2	0	ANKRD43	132178741	0.718000	0.27976	0.991000	0.47740	0.496000	0.33645	4.814000	0.62627	2.932000	0.99384	0.643000	0.83706	CCC		0.582	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		10	45	1	0	9.70103e-10	1	1.10325e-09	10	45				
CLTC	1213	broad.mit.edu	37	17	57721745	57721745	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:57721745G>A	ENST00000269122.3	+	2	425	c.151G>A	c.(151-153)Gta>Ata	p.V51I	CLTC_ENST00000579456.1_Missense_Mutation_p.V51I|CLTC_ENST00000393043.1_Missense_Mutation_p.V51I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	51	Globular terminal domain.|WD40-like repeat 1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGCCCAGGTGGTAATCATTGA	0.443			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(151-153)Gta>Ata		clathrin, heavy chain (Hc)							90.0	83.0	85.0					17																	57721745		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57721745G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.151G>A	17.37:g.57721745G>A	ENSP00000269122:p.Val51Ile					CLTC_ENST00000393043.1_Missense_Mutation_p.V51I|CLTC_ENST00000579456.1_Missense_Mutation_p.V51I	p.V51I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			2	425	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		51			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.151G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524222	0.64747	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.40756	1.02;1.02	5.65	5.65	0.86999	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.64567	1.98	0.38908	D	0.95746	B;B	0.33379	0.41;0.008	B;B	0.39660	0.306;0.064	T	0.48703	-0.9012	10	0.37606	T	0.19	.	19.7153	0.96115	0.0:0.0:1.0:0.0	.	51;51	Q00610;Q00610-2	CLH1_HUMAN;.	I	51	ENSP00000269122:V51I;ENSP00000376763:V51I	ENSP00000269122:V51I	V	+	1	0	CLTC	55076527	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	9.864000	0.99589	2.647000	0.89833	0.655000	0.94253	GTA		0.443	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		16	94	0	0	0	1	0	16	94				
AC009120.6	0	broad.mit.edu	37	16	74366447	74366447	+	RNA	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:74366447G>T	ENST00000565313.1	-	0	47				AC009120.6_ENST00000561921.1_RNA																							gggaggggaggggaggggGCC	0.622																																						ENST00000565313.1																			0																																																			0							g.chr16:74366447G>T																													16.37:g.74366447G>T						AC009120.6_ENST00000561921.1_RNA								0	47	-									RNA	SNP	ENST00000565313.1	37																																																																																						0.622	AC009120.6-003	KNOWN	basic	antisense	antisense	OTTHUMT00000434677.1			6	4	1	0	3.59834e-05	1	3.79461e-05	6	4				
DAB2	1601	broad.mit.edu	37	5	39377323	39377323	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:39377323A>G	ENST00000320816.6	-	12	2033	c.1566T>C	c.(1564-1566)aaT>aaC	p.N522N	DAB2_ENST00000339788.6_Silent_p.N304N|DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000545653.1_Silent_p.N501N	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	522					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGGGGACTGATTGAAGACCA	0.483																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1564-1566)aaT>aaC		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							91.0	89.0	90.0					5																	39377323		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377323A>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1566T>C	5.37:g.39377323A>G						DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000545653.1_Silent_p.N501N|DAB2_ENST00000339788.6_Silent_p.N304N	p.N522N	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2033	-	all_lung(31;0.000197)		522					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1566T>C	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		54	64	0	0	0	1	0	54	64				
LARS2	23395	broad.mit.edu	37	3	45583357	45583357	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:45583357A>T	ENST00000415258.1	+	20	2582	c.2441A>T	c.(2440-2442)tAc>tTc	p.Y814F	LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	814					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGTGCCCACTACACTTGGGAT	0.597																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2440-2442)tAc>tTc		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						76.0	65.0	69.0					3																	45583357		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45583357A>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2441A>T	3.37:g.45583357A>T	ENSP00000408576:p.Tyr814Phe					LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F	p.Y814F			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	20	2582	+			814						Missense_Mutation	SNP	ENST00000415258.1	37	c.2441A>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989328	0.35131	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.13196	2.61;2.61;2.61	5.67	5.67	0.87782	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.280120	0.36268	N	0.002692	T	0.16938	0.0407	L	0.47716	1.5	0.32521	N	0.536256	P;P	0.43231	0.801;0.801	B;B	0.40741	0.339;0.339	T	0.10989	-1.0606	10	0.87932	D	0	-20.4508	15.9098	0.79463	1.0:0.0:0.0:0.0	.	771;814	E9PHM2;Q15031	.;SYLM_HUMAN	F	814;814;771	ENSP00000265537:Y814F;ENSP00000408576:Y814F;ENSP00000412893:Y771F	ENSP00000265537:Y814F	Y	+	2	0	LARS2	45558361	1.000000	0.71417	0.753000	0.31225	0.323000	0.28346	6.783000	0.75078	2.158000	0.67659	0.455000	0.32223	TAC		0.597	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		3	38	0	0	0	1	0	3	38				
PLA2R1	22925	broad.mit.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(37-39)del		phospholipase A2 receptor 1, 180kDa			,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0.0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160918876_160918878delCAG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del					PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			1	243_245	-			13					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	ENST00000283243.7	37	c.37_39delCTG	CCDS33309.1																																																																																				0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			3	5						3	5	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G	rs201480883		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		catgcgcaacaggggactgtaa	0.366																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690462_195690463insG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690466_195690466dupG								NR_003264.2						0	2203	-									RNA	INS	ENST00000427841.1	37																																																																																						0.366	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80390692	80390693	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:80390692_80390693delGT	ENST00000265080.4	+	12	1703_1704	c.1636_1637delGT	c.(1636-1638)gtgfs	p.V546fs		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	546	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCTGGGCAAGTGTTTGGGCAC	0.436																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1636-1638)gfs		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001589	frameshift_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80390692_80390693delGT	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1636_1637delGT	5.37:g.80390694_80390695delGT	ENSP00000265080:p.Val546fs						p.V546fs	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	12	1703_1704	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	546			PH 2.		B9EG89|Q9UK56	Frame_Shift_Del	DEL	ENST00000265080.4	37	c.1636_1637delGT	CCDS4052.1																																																																																				0.436	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		30	45						30	45	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891delT																													7.37:g.88269891delT														0	57	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.313	AC006988.1-201	NOVEL	basic	miRNA	miRNA				3	5						3	5	---	---	---	---
LOC101929066	101929066	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	T	rs146025812|rs115192608|rs34486852	byFrequency	TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:17947397_17947398insT	ENST00000505114.2	+	0	902				CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000521775.1_RNA																							TAATGCTAttcttttttttttt	0.376													|||unknown(LONG_INSERTION)	2520	0.503195	0.5847	0.4986	5008	,	,		16529	0.3343		0.5517	False		,,,				2504	0.5204					ENST00000499554.2																			0																																																			0							g.chr8:17947397_17947398insT																													8.37:g.17947408_17947408dupT						CTD-2547L16.1_ENST00000521775.1_RNA								0	483	+									RNA	INS	ENST00000505114.2	37																																																																																						0.376	CTD-2547L16.1-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000375014.1			2	4						2	4	---	---	---	---
SLC31A2	1318	broad.mit.edu	37	9	115913263	115913265	+	De_novo_Start_InFrame	DEL	GCG	GCG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr9:115913263_115913265delGCG	ENST00000259392.3	+	0	42_44				SLC31A2_ENST00000490809.1_3'UTR	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2						cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	GGTAGCTATCgcggcggcggcgg	0.744																																						ENST00000259392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7								solute carrier family 31 (copper transporter), member 2				5,639		2,1,319						1.9	0.0			1	13,2361		4,5,1178	no	utr-5	SLC31A2	NM_001860.2		6,6,1497	A1A1,A1R,RR		0.5476,0.7764,0.5964				18,3000						1318					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:115913263_115913265delGCG		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037		9.37:g.115913272_115913274delGCG						SLC31A2_ENST00000490809.1_3'UTR		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN			0	42_44	+									Translation_Start_Site	DEL	ENST00000259392.3	37		CCDS6788.1																																																																																				0.744	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055509.2	NM_001860		2	4						2	4	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			10	0						10	0	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71918250	71918250	+	Frame_Shift_Del	DEL	A	A	-	rs371640496		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:71918250delA	ENST00000266674.5	+	3	660	c.349delA	c.(349-351)aaafs	p.K117fs	LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs|LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	117					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTACAGTCTTAAAGTTCTGTA	0.408																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(349-351)aafs		leucine-rich repeat containing G protein-coupled receptor 5							168.0	163.0	164.0					12																	71918250		2203	4300	6503	SO:0001589	frameshift_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71918250delA	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.349delA	12.37:g.71918250delA	ENSP00000266674:p.Lys117fs					LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs|LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs	p.K117fs			O75473	LGR5_HUMAN			3	660	+			117					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Frame_Shift_Del	DEL	ENST00000266674.5	37	c.349delA	CCDS9000.1																																																																																				0.408	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		9	67						9	67	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85083188	85083188	+	RNA	DEL	T	T	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr15:85083188delT	ENST00000339094.1	-	0	1593					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		aggccaagagtttgaaaccag	0.522																																						ENST00000339094.1																			0																																																			0							g.chr15:85083188delT			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85083188delT								NR_003661.2						0	1593	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.522	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		4	5						4	5	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40489876	40489876	+	Splice_Site	DEL	C	C	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40489876delC	ENST00000264657.5	-	7	863		c.e7-1		STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000404395.3_Splice_Site	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)						acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTTGCATGTCTGCGAAGGAA	0.507									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e7-1		signal transducer and activator of transcription 3 (acute-phase response factor)							81.0	70.0	74.0					17																	40489876		2203	4300	6503	SO:0001630	splice_region_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40489876delC	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.551-1G>-	17.37:g.40489876delC						STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site		NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	7	863	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)						A8K7B8|K7ENL3|O14916|Q9BW54	Splice_Site	DEL	ENST00000264657.5	37		CCDS32656.1																																																																																				0.507	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	Intron	24	0						24	0	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106846478	106846480	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:106846478_106846480delCAG	ENST00000276185.4	+	16	5308_5310	c.5308_5310delCAG	c.(5308-5310)cagdel	p.Q1776del				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1776	Gln-rich.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						gcaacaacaacagcagcagcagc	0.586																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(5308-5310)del		FERM and PDZ domain containing 3				51,2272		9,27,6,1017,211						0.5	0.8			2	74,3975		18,26,12,1566,817	no	coding	FRMPD3	XM_042978.7		27,53,18,2583,1028	A1A1,A1R,A1,RR,R		1.8276,2.1954,1.9617				125,6247				SO:0001651	inframe_deletion	84443					cytoskeleton		g.chrX:106846478_106846480delCAG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.5308_5310delCAG	X.37:g.106846487_106846489delCAG	ENSP00000276185:p.Gln1776del						p.Q1776del			Q5JV73	FRPD3_HUMAN			16	5308_5310	+			1776			Gln-rich.		Q96JK8	In_Frame_Del	DEL	ENST00000276185.4	37	c.5308_5310delCAG																																																																																					0.586	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		2	4						2	4	---	---	---	---
