#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
SLC45A4	57210	broad.mit.edu	37	8	142231785	142231785	+	Silent	SNP	A	A	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr8:142231785A>T	ENST00000024061.3	-	2	475	c.168T>A	c.(166-168)tcT>tcA	p.S56S	SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S|SLC45A4_ENST00000519067.1_Silent_p.S56S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCACTCGCAGACCCAATGA	0.632																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(166-168)tcT>tcA		solute carrier family 45, member 4							94.0	87.0	90.0					8																	142231785		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231785A>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.168T>A	8.37:g.142231785A>T						SLC45A4_ENST00000024061.3_Silent_p.S56S|SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S	p.S56S			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	471	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		107					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.168T>A	CCDS34948.1																																																																																				0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		11	88	0	0	0	0.105934	0	11	88				
GRM1	2911	broad.mit.edu	37	6	146351093	146351093	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:146351093T>C	ENST00000282753.1	+	1	675	c.440T>C	c.(439-441)cTc>cCc	p.L147P	GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000392299.2_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	147					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCCAGTCCCTCCCCCCAGGC	0.562																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(439-441)cTc>cCc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						69.0	71.0	71.0					6																	146351093		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351093T>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.440T>C	6.37:g.146351093T>C	ENSP00000282753:p.Leu147Pro					GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P|GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000282753.1_Missense_Mutation_p.L147P	p.L147P			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	910	+		Ovarian(120;0.0387)	147					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.440T>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193326	0.22037	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.69	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.464258	0.25014	N	0.033816	T	0.44095	0.1277	N	0.11560	0.145	0.52501	D	0.999958	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.37888	-0.9686	10	0.30854	T	0.27	.	3.6447	0.08180	0.3196:0.2016:0.0:0.4788	.	147;147;142;147	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	P	147	ENSP00000354896:L147P;ENSP00000376119:L147P;ENSP00000424095:L147P;ENSP00000282753:L147P;ENSP00000347437:L147P;ENSP00000425599:L147P	ENSP00000282753:L147P	L	+	2	0	GRM1	146392786	0.857000	0.29778	1.000000	0.80357	0.775000	0.43874	2.689000	0.46993	0.959000	0.37980	0.459000	0.35465	CTC		0.562	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	113	0	0	0	0.115264	0	3	113				
S100A6	6277	broad.mit.edu	37	1	153507784	153507784	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:153507784A>C	ENST00000368720.2	-	3	334	c.32T>G	c.(31-33)cTc>cGc	p.L11R	S100A6_ENST00000368719.4_Missense_Mutation_p.L11R|S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|BX470102.3_ENST00000420695.1_RNA			P06703	S10A6_HUMAN	S100 calcium binding protein A6	11					axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACGAGGAGGCCAATGGC	0.602																																						ENST00000368720.2																			0				ovary(1)	1						c.(31-33)cTc>cGc		S100 calcium binding protein A6							95.0	91.0	92.0					1																	153507784		2203	4300	6503	SO:0001583	missense	6277				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding	g.chr1:153507784A>C	BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10496	protein-coding gene	gene with protein product		114110	"""S100 calcium-binding protein A6 (calcyclin)"", ""S100 calcium binding protein A6 (calcyclin)"""	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.32T>G	1.37:g.153507784A>C	ENSP00000357709:p.Leu11Arg					S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|S100A6_ENST00000368719.4_Missense_Mutation_p.L11R	p.L11R			P06703	S10A6_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	334	-	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		11					D3DV39|Q5RHS4	Missense_Mutation	SNP	ENST00000368720.2	37	c.32T>G	CCDS1040.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192081	0.38707	.	.	ENSG00000197956	ENST00000368719;ENST00000368720	T;T	0.09445	2.98;2.98	4.94	-0.0395	0.13875	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.188416	0.35235	N	0.003351	T	0.02380	0.0073	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.43445	0.42	T	0.42816	-0.9429	9	0.42905	T	0.14	.	0.6905	0.00890	0.3505:0.3035:0.1806:0.1653	.	11	P06703	S10A6_HUMAN	R	11	ENSP00000357708:L11R;ENSP00000357709:L11R	ENSP00000357708:L11R	L	-	2	0	S100A6	151774408	0.000000	0.05858	0.199000	0.23439	0.810000	0.45777	0.267000	0.18552	0.681000	0.31386	0.459000	0.35465	CTC		0.602	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		6	81	0	0	0	0.021553	0	6	81				
PRG4	10216	broad.mit.edu	37	1	186276357	186276357	+	Silent	SNP	T	T	C	rs560151042	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:186276357T>C	ENST00000445192.2	+	7	1551	c.1506T>C	c.(1504-1506)acT>acC	p.T502T	PRG4_ENST00000367483.4_Silent_p.T461T|PRG4_ENST00000367485.4_Silent_p.T409T|PRG4_ENST00000367486.3_Silent_p.T459T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	502	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.647													-|||	9	0.00179712	0.0008	0.0014	5008	,	,		9415	0.001		0.0	False		,,,				2504	0.0061					ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1504-1506)acT>acC		proteoglycan 4							106.0	110.0	108.0					1																	186276357		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276357T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1506T>C	1.37:g.186276357T>C						PRG4_ENST00000367483.4_Silent_p.T461T|PRG4_ENST00000367485.4_Silent_p.T409T|PRG4_ENST00000367486.3_Silent_p.T459T|PRG4_ENST00000367484.3_Intron	p.T502T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1551	+			502			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1506T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	125	0	0	0	0.080935	0	6	125				
C1orf101	257044	broad.mit.edu	37	1	244724433	244724433	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:244724433A>T	ENST00000366534.4	+	10	1547	c.1493A>T	c.(1492-1494)cAt>cTt	p.H498L	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	498						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGCATTATTCATGAAGTTTTC	0.328																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1492-1494)cAt>cTt		chromosome 1 open reading frame 101							76.0	77.0	77.0					1																	244724433		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244724433A>T	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1493A>T	1.37:g.244724433A>T	ENSP00000355492:p.His498Leu					C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L	p.H498L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1547	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		498					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1493A>T	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599365	0.66332	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.95	4.95	0.65309	.	0.231178	0.30401	N	0.009720	T	0.36524	0.0970	L	0.59436	1.845	0.21675	N	0.999599	D;P;P;P	0.54047	0.964;0.902;0.952;0.782	P;B;P;B	0.52481	0.7;0.442;0.677;0.274	T	0.25950	-1.0117	10	0.87932	D	0	.	11.275	0.49161	1.0:0.0:0.0:0.0	.	418;498;498;347	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	L	498;498;498;418;347	ENSP00000355492:H498L;ENSP00000355491:H498L;ENSP00000395796:H418L;ENSP00000355489:H347L	ENSP00000355489:H347L	H	+	2	0	C1orf101	242791056	0.995000	0.38212	0.303000	0.25071	0.423000	0.31445	4.595000	0.61048	1.974000	0.57490	0.460000	0.39030	CAT		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		6	92	0	0	0	0.021553	0	6	92				
OR2M3	127062	broad.mit.edu	37	1	248367157	248367157	+	Missense_Mutation	SNP	C	C	T	rs373560980		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:248367157C>T	ENST00000456743.1	+	1	826	c.788C>T	c.(787-789)aCa>aTa	p.T263I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACGGCCCACATCTGATCGC	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(787-789)aCa>aTa		olfactory receptor, family 2, subfamily M, member 3							193.0	177.0	183.0					1																	248367157		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367157C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.788C>T	1.37:g.248367157C>T	ENSP00000389625:p.Thr263Ile						p.T263I	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	826	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		263					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.788C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.832	0.337759	0.11013	.	.	ENSG00000228198	ENST00000456743	T	0.00152	8.66	2.54	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	1.523810	0.04885	U	0.448477	T	0.00109	0.0003	N	0.25992	0.78	0.09310	N	1	B	0.14438	0.01	B	0.21151	0.033	T	0.41016	-0.9532	10	0.48119	T	0.1	.	1.111	0.01704	0.3457:0.3385:0.1806:0.1352	.	263	Q8NG83	OR2M3_HUMAN	I	263	ENSP00000389625:T263I	ENSP00000389625:T263I	T	+	2	0	OR2M3	246433780	0.000000	0.05858	0.012000	0.15200	0.024000	0.10985	-2.394000	0.01054	1.420000	0.47138	0.398000	0.26397	ACA		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		67	125	0	0	0	0.139131	0	67	125				
ANKRD20A2	441430	broad.mit.edu	37	9	42368593	42368593	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:42368593T>A	ENST00000377601.2	+	1	291	c.179T>A	c.(178-180)cTg>cAg	p.L60Q	RP11-216M21.7_ENST00000450520.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	60										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AGCGGAGACCTGGACGCCCTG	0.716																																						ENST00000377601.2																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						c.(178-180)cTg>cAg		ankyrin repeat domain 20 family, member A2							17.0	16.0	16.0					9																	42368593		2190	4250	6440	SO:0001583	missense	441430							g.chr9:42368593T>A		CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.179T>A	9.37:g.42368593T>A	ENSP00000366826:p.Leu60Gln						p.L60Q	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN			1	291	+			60						Missense_Mutation	SNP	ENST00000377601.2	37	c.179T>A	CCDS35028.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871554	0.33069	.	.	ENSG00000183148	ENST00000377601	T	0.68181	-0.31	1.23	1.23	0.21249	Ankyrin repeat-containing domain (8);	.	.	.	.	T	0.75162	0.3812	M	0.68593	2.085	0.09310	N	1	D;D	0.55800	0.973;0.973	D;D	0.75020	0.985;0.928	T	0.60352	-0.7280	9	0.87932	D	0	.	4.7373	0.12995	0.0:0.0:0.0:1.0	.	60;60	Q5CZ79;Q5SQ80	AN20B_HUMAN;A20A2_HUMAN	Q	60	ENSP00000366826:L60Q	ENSP00000366826:L60Q	L	+	2	0	ANKRD20A2	42358589	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.208000	0.32345	0.836000	0.34901	0.102000	0.15555	CTG		0.716	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129794.1	NM_001012421		4	99	0	0	0	0.014758	0	4	99				
C15orf43	145645	broad.mit.edu	37	15	45249168	45249168	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:45249168A>G	ENST00000340827.3	+	2	156	c.139A>G	c.(139-141)Acg>Gcg	p.T47A		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	47										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GCACCCAGACACGCTGAGGTA	0.552																																						ENST00000340827.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(139-141)Acg>Gcg		chromosome 15 open reading frame 43							51.0	46.0	48.0					15																	45249168		2198	4298	6496	SO:0001583	missense	145645							g.chr15:45249168A>G	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.139A>G	15.37:g.45249168A>G	ENSP00000340644:p.Thr47Ala						p.T47A	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	2	156	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	47						Missense_Mutation	SNP	ENST00000340827.3	37	c.139A>G	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	20.3	3.963289	0.74016	.	.	ENSG00000167014	ENST00000340827	T	0.61859	0.07	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	T	0.64204	0.2577	L	0.34521	1.04	0.34723	D	0.728974	D	0.67145	0.996	D	0.77557	0.99	T	0.74355	-0.3692	10	0.87932	D	0	.	10.9641	0.47401	1.0:0.0:0.0:0.0	.	47	Q8NHR7	CO043_HUMAN	A	47	ENSP00000340644:T47A	ENSP00000340644:T47A	T	+	1	0	C15orf43	43036460	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.637000	0.61346	2.153000	0.67306	0.523000	0.50628	ACG		0.552	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		3	62	0	0	0	0.009096	0	3	62				
ALPK3	57538	broad.mit.edu	37	15	85401117	85401117	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:85401117G>A	ENST00000258888.5	+	6	3921	c.3754G>A	c.(3754-3756)Gct>Act	p.A1252T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1252					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGGTGCAGGCTGGCCGCCA	0.682																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3754-3756)Gct>Act		alpha-kinase 3							30.0	21.0	24.0					15																	85401117		2198	4289	6487	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401117G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3754G>A	15.37:g.85401117G>A	ENSP00000258888:p.Ala1252Thr						p.A1252T	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3921	+			1252					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3754G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475416	0.63737	.	.	ENSG00000136383	ENST00000258888	T	0.64618	-0.11	5.21	4.2	0.49525	.	0.730379	0.13446	N	0.387243	T	0.43299	0.1241	N	0.19112	0.55	0.28159	N	0.929075	P	0.40970	0.734	B	0.37601	0.254	T	0.16541	-1.0399	10	0.12766	T	0.61	-4.6111	11.7231	0.51693	0.0:0.0:0.8117:0.1883	.	1252	Q96L96	ALPK3_HUMAN	T	1252	ENSP00000258888:A1252T	ENSP00000258888:A1252T	A	+	1	0	ALPK3	83202121	0.998000	0.40836	0.998000	0.56505	0.945000	0.59286	2.008000	0.40893	2.427000	0.82271	0.563000	0.77884	GCT		0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		3	27	0	0	0	0.115264	0	3	27				
SYNGAP1	8831	broad.mit.edu	37	6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(706-708)gCg>gTg		synaptic Ras GTPase activating protein 1							178.0	163.0	168.0					6																	33403335		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403335C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.707C>T	6.37:g.33403335C>T	ENSP00000403636:p.Ala236Val					SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V	p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			7	808	+			236			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.707C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223162	0.95139	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93366	-3.21;-3.21;-3.21	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.80746	2.51	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.979	B;P;P	0.53689	0.446;0.648;0.732	D	0.95111	0.8238	10	0.87932	D	0	.	15.0065	0.71516	0.0:1.0:0.0:0.0	.	236;236;236	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	V	236;236;236;177	ENSP00000293748:A236V;ENSP00000403636:A236V;ENSP00000412475:A177V	ENSP00000293748:A236V	A	+	2	0	SYNGAP1	33511313	1.000000	0.71417	0.958000	0.39756	0.962000	0.63368	7.651000	0.83577	2.391000	0.81399	0.591000	0.81541	GCG		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	198	0	0	0	0.014758	0	4	198				
ASXL1	171023	broad.mit.edu	37	20	31023131	31023131	+	Silent	SNP	C	C	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr20:31023131C>T	ENST00000375687.4	+	13	3040	c.2616C>T	c.(2614-2616)tgC>tgT	p.C872C	ASXL1_ENST00000306058.5_Silent_p.C867C	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	872					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTGGCTCATGCCCTCCTATGA	0.463			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2614-2616)tgC>tgT		additional sex combs like 1 (Drosophila)							162.0	165.0	164.0					20																	31023131		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023131C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2616C>T	20.37:g.31023131C>T						ASXL1_ENST00000306058.5_Silent_p.C867C	p.C872C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3040	+			872					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2616C>T	CCDS13201.1																																																																																				0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	187	0	0	0	0.014758	0	5	187				
DST	667	broad.mit.edu	37	6	56458993	56458993	+	Splice_Site	SNP	T	T	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:56458993T>C	ENST00000361203.3	-	44	11570		c.e44-2		DST_ENST00000370769.4_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000244364.6_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGTTGGGCCTATGTGAAAAC	0.473																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.e48-2		dystonin							156.0	147.0	150.0					6																	56458993		1988	4172	6160	SO:0001630	splice_region_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458993T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11563-2A>G	6.37:g.56458993T>C						DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000361203.3_Splice_Site				Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12102	-	Lung NSC(77;0.103)							B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	ENST00000361203.3	37			.	.	.	.	.	.	.	.	.	.	T	16.12	3.032452	0.54790	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.993	0.80220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56566952	1.000000	0.71417	0.872000	0.34217	0.513000	0.34164	7.616000	0.83018	2.236000	0.73375	0.528000	0.53228	.		0.473	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Intron	3	178	0	0	0	0.009096	0	3	178				
VPS13A	23230	broad.mit.edu	37	9	79867160	79867160	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:79867160G>C	ENST00000360280.3	+	22	2440	c.2180G>C	c.(2179-2181)tGg>tCg	p.W727S	VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S|VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	727					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTGATAATTGGAGAGAAGCA	0.343																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2179-2181)tGg>tCg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							174.0	165.0	168.0					9																	79867160		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867160G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2180G>C	9.37:g.79867160G>C	ENSP00000353422:p.Trp727Ser					VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S|VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S	p.W727S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			22	2440	+			727					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2180G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094153	0.76870	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.46	5.46	0.80206	.	0.068850	0.64402	D	0.000006	T	0.69106	0.3074	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.971;0.999;1.0;1.0	T	0.68849	-0.5300	10	0.33940	T	0.23	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	727;727;727;727	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	727	ENSP00000365821:W727S;ENSP00000365823:W727S;ENSP00000353422:W727S;ENSP00000349985:W727S	ENSP00000349985:W727S	W	+	2	0	VPS13A	79056980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.938000	0.87678	2.552000	0.86080	0.561000	0.74099	TGG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	104	0	0	0	0.014758	0	3	104				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	123	0	0	0	0.038147	0	4	123				
ZNF799	90576	broad.mit.edu	37	19	12502822	12502822	+	Silent	SNP	T	T	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:12502822T>C	ENST00000430385.3	-	4	590	c.390A>G	c.(388-390)ccA>ccG	p.P130P	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P|ZNF799_ENST00000419318.1_Silent_p.P98P	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GATACTCATATGGTTTGTGCC	0.443																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(292-294)ccA>ccG		zinc finger protein 799							169.0	155.0	159.0					19																	12502822		2203	4300	6503	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502822T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.390A>G	19.37:g.12502822T>C						CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.P130P	p.P98P			Q96GE5	ZN799_HUMAN			4	1043	-			130						Silent	SNP	ENST00000430385.3	37	c.294A>G	CCDS45989.1																																																																																				0.443	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	139	0	0	0	0.014758	0	5	139				
RHPN2	85415	broad.mit.edu	37	19	33493198	33493198	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:33493198C>A	ENST00000254260.3	-	9	1095	c.1060G>T	c.(1060-1062)Gcc>Tcc	p.A354S	RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	354	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGCCAGGGCCGCGTAGTGG	0.642																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1060-1062)Gcc>Tcc		rhophilin, Rho GTPase binding protein 2							49.0	46.0	47.0					19																	33493198		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493198C>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1060G>T	19.37:g.33493198C>A	ENSP00000254260:p.Ala354Ser					RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S	p.A354S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			9	1095	-	Esophageal squamous(110;0.137)		354			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1060G>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530200	0.45073	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.31510	1.49;1.49	4.61	4.61	0.57282	BRO1 domain (3);	0.049943	0.85682	D	0.000000	T	0.27594	0.0678	L	0.35593	1.075	0.58432	D	0.999994	B	0.31655	0.334	B	0.34385	0.181	T	0.05209	-1.0899	10	0.26408	T	0.33	-19.8851	17.8058	0.88600	0.0:1.0:0.0:0.0	.	354	Q8IUC4	RHPN2_HUMAN	S	354;84;203	ENSP00000254260:A354S;ENSP00000402244:A203S	ENSP00000254260:A354S	A	-	1	0	RHPN2	38185038	0.997000	0.39634	0.915000	0.36163	0.488000	0.33401	3.585000	0.53943	2.255000	0.74692	0.455000	0.32223	GCC		0.642	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		5	59	1	0	5.9392e-07	0.021553	8.48457e-07	5	59				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	58	0	0	0	0.064281	0	35	58				
IL22	50616	broad.mit.edu	37	12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr12:68646552C>T	ENST00000538666.1	-	3	314	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_ENST00000328087.4_Missense_Mutation_p.G82R			Q9GZX6	IL22_HUMAN	interleukin 22	82					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(244-246)Gga>Aga		interleukin 22							136.0	117.0	123.0					12																	68646552		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646552C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.244G>A	12.37:g.68646552C>T	ENSP00000442424:p.Gly82Arg					IL22_ENST00000328087.4_Missense_Mutation_p.G82R	p.G82R			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	3	314	-		Myeloproliferative disorder(1001;0.0255)	82						Missense_Mutation	SNP	ENST00000538666.1	37	c.244G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709901	0.48517	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.319863	0.26383	N	0.024685	T	0.60521	0.2275	M	0.72118	2.19	0.34206	D	0.673707	D	0.89917	1.0	D	0.97110	1.0	T	0.69785	-0.5051	9	.	.	.	-8.155	10.4182	0.44335	0.0:0.9088:0.0:0.0912	.	82	Q9GZX6	IL22_HUMAN	R	82	ENSP00000442424:G82R;ENSP00000329384:G82R	.	G	-	1	0	IL22	66932819	0.451000	0.25705	0.916000	0.36221	0.145000	0.21501	1.230000	0.32612	2.768000	0.95171	0.558000	0.71614	GGA		0.498	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		4	82	0	0	0	0.014758	0	4	82				
GALNT15	117248	broad.mit.edu	37	3	16254129	16254129	+	Silent	SNP	C	C	T	rs185944497	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr3:16254129C>T	ENST00000339732.5	+	6	1754	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	GALNT15_ENST00000437509.1_Silent_p.H417H	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	417	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGTAGGACACATCTACCAAA	0.532																																						ENST00000339732.5																			0											c.(1249-1251)caC>caT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							107.0	90.0	96.0					3																	16254129		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254129C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1251C>T	3.37:g.16254129C>T						GALNT15_ENST00000437509.1_Silent_p.H417H	p.H417H	NM_054110.4	NP_473451.3					6	1754	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1251C>T	CCDS33711.1																																																																																				0.532	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		21	43	0	0	0	0.049695	0	21	43				
CFD	1675	broad.mit.edu	37	19	860954	860954	+	Silent	SNP	C	C	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:860954C>A	ENST00000327726.6	+	3	543	c.306C>A	c.(304-306)ccC>ccA	p.P102P	CFD_ENST00000592860.1_Silent_p.P109P	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGTGCCCCACCCGGACA	0.721																																						ENST00000327726.6																			0											c.(304-306)ccC>ccA		complement factor D (adipsin)							21.0	19.0	20.0					19																	860954		2191	4282	6473	SO:0001819	synonymous_variant	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:860954C>A	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"""Complement system"""	2771	protein-coding gene	gene with protein product		134350	"""D component of complement (adipsin)"", ""properdin factor D"""	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.306C>A	19.37:g.860954C>A						CFD_ENST00000592860.1_Silent_p.P109P	p.P102P	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	543	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	102			Peptidase S1.		B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Silent	SNP	ENST00000327726.6	37	c.306C>A	CCDS12046.1																																																																																				0.721	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		3	20	1	0	0.00909568	0.009096	0.0121276	3	20				
MCC	4163	broad.mit.edu	37	5	112420872	112420872	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr5:112420872G>A	ENST00000302475.4	-	7	1527	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	MCC_ENST00000408903.3_Missense_Mutation_p.P512S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P259S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	322					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(964-966)Ccc>Tcc		mutated in colorectal cancers							178.0	167.0	171.0					5																	112420872		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112420872G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.964C>T	5.37:g.112420872G>A	ENSP00000305617:p.Pro322Ser					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000408903.3_Missense_Mutation_p.P512S	p.P322S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	7	1527	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	322					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.964C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726411	0.89298	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.54479	1.68;1.69;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.78314	0.968;0.968;0.991;0.968	T	0.59348	-0.7471	10	0.33141	T	0.24	-34.2366	19.8927	0.96935	0.0:0.0:1.0:0.0	.	322;284;512;322	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	S	322;259;512	ENSP00000305617:P322S;ENSP00000421615:P259S;ENSP00000386227:P512S	ENSP00000305617:P322S	P	-	1	0	MCC	112448771	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.562000	0.82300	2.711000	0.92665	0.655000	0.94253	CCC		0.612	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		28	124	0	0	0	0.125774	0	28	124				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	3						3	3	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		2	4						2	4	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs567241949|rs56076856|rs371501468|rs61593494|rs201948984|rs78942570|rs572952892	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244																																						ENST00000591758.1																			0																																																			0							g.chr16:61089302delC																													16.37:g.61089302delC														0	566	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			8	16						8	16	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			8	136						8	136	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59060278	59060279	+	Splice_Site	INS	-	-	T	rs111630223		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:59060278_59060279insT	ENST00000253024.5	+	11	1698		c.e11+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGTGAAACGGTAAGTATGGCA	0.564																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.e11+1		tripartite motif containing 28																																				SO:0001630	splice_region_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060278_59060279insT		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1409+1->T	19.37:g.59060279_59060279dupT						TRIM28_ENST00000341753.6_Splice_Site		NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	11	1698	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)						O00677|Q7Z632|Q93040|Q96IM1	Splice_Site	INS	ENST00000253024.5	37		CCDS12985.1																																																																																				0.564	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	Intron	15	80						15	80	---	---	---	---
